Regional Genetics Resource Directory

New England Regional Genetics Gr

oup, Inc.

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egional dir geneticsa r r FOR MORE INFORMATION, COMMENTS OR QUESTIONS, PLEASE CONTACT:

New England Regional Genetics Group, Inc. Mary-Frances Garber M.S., C.G.C Executive Assistant P.O. Box 920288 Needham, MA 02492-0288 Phone: 781-444-0126 Fax: 781-444-0127 Email: [email protected] Web site: www.nergg.org

This resource directory is a supplement to and not a substitute for medical advice. Patients with specific questions about genetic counseling or testing should contact their healthcare provider or a genetics clinic.

i. NERGG, Inc. Continuing the mission of the NEW ENGLAND REGIONAL GENETICS GROUP

Thomas Brewster, MD Mary-Frances Garber M.S., C.G.C Project Director NERGG, Inc, Executive Assistant Regional Genetics Services and NBS Collaborative P.O. Box 920288 Needham, MA 02492-0288 Phone: 781-444-0126

NEW ENGLAND REGIONAL GENETICS AND NEWBORN SCREENING COLLABORATIVE HRSA GRANT # 1U22MC03959 09/01/2004-05/31/2007 Thomas Brewster, MD Project Director

Dear Reader:

I am pleased to present the New England Regional Genetics Group, Inc.’s latest endeavor, Genetics Resources: A Regional Directory.

Advances in genetics hold the promise of great benefits to the health of New England residents. Yet there is a growing need for enhanced genetics knowledge among physicians, other health care providers, and the general public. To help meet this need, the Department of Public Health in Connecticut developed a genetics resources directory, and the health departments within our region supplemented it with their information. By joining forces, this wealth of information was created for accessing local, regional, and national genetics resources. This directory was developed to help New England residents and their medical caregivers access information about the significant role that genes play in human health and disease, and locate services such as genetic testing, treatment, and follow-up.

The Directory begins with an overview of basic genetics and provides listings for national genetics organizations. It also includes support groups for various conditions and lists specialized resources and supports for each condition whenever possible.

Each state has a listing of its genetic services, including clinical, public health and laboratory.

We hope you find this Directory a useful tool in your search for genetics information. We welcome your feedback on its utilization and your suggestions regarding future public education efforts in genetics.

Sincerely,

Thomas Brewster, MD

ii. ACKNOWLEDGEMENTS

Contributors: New Hampshire Department of Public Connecticut Department of Public Health Health

Genetics Planning Team: Marcia Lavochkin, R.N., B.S.N., Program Coordinator, Newborn Screening Program Beverly Burke, M.S.W., Lead Planner Joan Foland, M.H.S.,M.Phil., Epidemiologist Rhode Island Department of Public Health Meg A. Hooper, M.P.A.,Project Director Fay Larson, R.N., M.S., Genetic Newborn Screening Program Ellen Amore, M.S., Manager, Newborn Screening Lloyd Mueller, Ph.D., Supervising Epidemiologist Programs Carol Stone, Ph.D., M.S., M.A.S., Epidemiologist Barbara McNeilly, R.N., M.S., Community Health Nurse Kristi Zonno, M.S, C.G.C., Newborn Screening Training and Quality Improvement Coordinator Maine Department of Public Health

Eleanor Mulcahy, R.N.C., Director of the Genetics Program Vermont Department of Public Health

Massachusetts Department of Public Health Cindy Ingham, R.N., Newborn Screening Program Chief

Connie Carroll, R.N., M.P.H.,Interim Director of Care

Coordination Division for Perinatal, Early Childhood Original Draft Prepared by: and Special Health Needs Leslie Ciarleglio, M.S., C.G.C., NERGG, Inc. Regional Draft Prepared by: Meagan Krasner, M.S., C.G.C., NERGG, Inc. Edited by: Lisa Tuttle, M.S., C.G.C., NERGG, Inc.

Carol E. Bower, Lead Planning Analyst, CT D.P.H. Layout and Design by: Jon Krasner, M.F.A., Jon Krasner Design, co. Funding for this Directory was provided by the U.S. Department of Health and Human Services, Health Resources and Services Administration. iii.

PREFACE

Rapid developments in genetics research have led This second draft of Genetics Resources: A Regional increasingly to the integration of genetics into Directory, will require revision and updating with medical practice. The communication of genetic new resources as the “genomics revolution” information between medical providers and patients, continues to expand, creates new challenges and patients and their medical providers, and genetic necessitates the creation of new resources in services and the public will require special caution response to them. and counseling because genetics and genetic information affect people in unique ways. Such As planning and preparation continue to address the information can predict events that occur years in impact of genetic developments on public health in the future, or not at all. It may predict the future of New England, the need for sharing timely, other family members, and has the potential to accurate and useful information will grow. Public challenge, and even stigmatize both individuals health departments will continue to play a critical and families. role in addressing these challenges.

Genetics Resources: A Regional Directory, is the product of a multi-year genetics planning initiative at the Connecticut Department of Public Health. Its development was prompted by concern that a lack of general, current genetics knowledge among the public and medical professionals could result in missed health promotion opportunities. The expansion of the directory to include resources outside Connecticut was undertaken by the New England Public Health Genetics Education Collaborative of the NERGG, Inc. Updating this directory is an important part of a strategy to increase genetics literacy for all.

This directory is intended to help the general public, affected families, and the medical community to further their knowledge of genetics, genetic conditions, services, and supports and to make it easier to locate and access resources. The information and resources in this Directory extend beyond those related to traditional public health efforts in screening newborns for inherited disorders. Rather they encompass the impact of genetics across the entire lifespan. Wherever possible, additional sources of published information accompany listings related to a particular diagnosis or genetic condition.

*Preface originally prepared by the CT Department of Public Health, 2004 iv.

TABLE OF CONTENTS

Preface

Section I: Genetics Throughout the Lifespan 1-4

Section II: Umbrella Organizations and References 5-12

Section III: Support Organizations and Resources 13-66 (alphabetically by condition) Section IV: Common Genetics Terms 67-78

Section V: Genetics Services: Connecticut 79-84

Section VI: Genetics Services: Maine 85-88

Section VII: Genetics Services: Massachusetts 89-94

Section VIII: Genetics Services: New Hampshire 95-96

Section IX: Genetics Services: Rhode Island 97-100

Section X: Genetics Services: Vermont 101-102 I. GENETICS THROUGHOUT THE LIFESPAN 2 Human genetics. Understanding ourselves and our make- serious genetic disorder, but may also determine our up from the most basic perspective can be overwhelming. chances of developing a chronic disease or our susceptibil- The study of genetics (single genes and their effects), once ity to an infectious disease. considered obscure has now been confounded by genomics--the study of all the genes in an individual and Traditionally, genetic testing and counseling have how they interact with each other and with the environ- centered on prenatal and pediatric genetic diagnoses. ment to create the complexity of life. Even today, with This is changing: genetics is rapidly expanding into other the completion of the Human Genome Project and the medical fields, including adult medicine. However, there related media exposure, the risk for birth defects or are key times throughout the lifespan that genetic issues genetic disease is often viewed as a “one in-a-million” are more likely to be encountered. possibility. Many people believe that genomics is unrelated to their daily lives. The reality, however, is that Historically, pregnant women 35 years of age or older at genomic medicine-- using genetic information to diagnose the time of expected delivery were the typical prenatal and treat disease--is here to stay and most people will genetics referral. Now, with the benefit from genetic testing and information at some time growing list of prenatal testing in their lives. options, all pregnant women and women planning a preg- Genetics is the study of heredity. It concerns the transfer nancy are potential candidates of qualities or traits from one generation to the next. The for genetic counseling, basic units of heredity are genes. Genes are made of DNA regardless of their age. Parental (deoxyribonucleic acid) and come in pairs, and are carrier testing is routinely packaged in structures called chromosomes, which available for a variety of genetic collectively form an organism's genome. diseases that are more common in specific racial and ethnic Most cells in an individual contain every gene in its entire groups. Sperm and egg donors genome. It was originally believed that humans had are often asked to submit to a approximately 100,000 genes; however, it is now known variety of genetic tests. When couples are known to be at that the human genome contains only about 20,000- risk for a baby with genetic disease, pre-implantation 25,000 genes. Humans have a total of 46 chromosomes genetic diagnosis affords the option of testing fertilized representing 23 pairs. We get 23 chromosomes from our eggs in-vitro prior to transfer to the uterus. mother, via the egg, and 23 chromosomes from our father, via the sperm. The joining of egg and sperm at conception Each year, millions of newborns receive newborn results in a fertilized egg with its full complement of screening for various genetic, metabolic, and infectious chromosomes. Of the 23 pairs of chromosomes, 22 pairs disorders. The goal of State newborn screening programs are called the autosomes. The 23rd pair consists of the is to identify affected newborns before the onset of sex chromosomes. Females have two “X” chromosomes, symptoms. Medical treatment can be promptly initiated to and males have one “X” chromosome and one “Y” prevent irreversible medical problems or even death. chromosome. Information about each state's newborn screening program is available on its health department's web site, Most things about us, including, in part, our health, are (see Genetic Services section of this directory). determined by our genes. Our genetic blueprint not only determines whether or not our children might have a 3 The identification of susceptibility genes for common adult-onset genetic diseases is moving the field of genetics in a new and demanding direction. Diabetes, certain cancers, and Alzheimer's disease are a few conditions for which a genetic component has been identified. Of the top ten leading causes of death in the U.S., all but one (injuries) has a genetic component.

Pre-symptomatic and susceptibility genetic testing have created an entirely new concept-- Healthy individuals who are expected to develop or have an increased risk to develop a disorder. The psychosocial implications of this information represent a continuing challenge to the genetics profession.

Genetics professionals have valid ethical concerns about genetic testing and genomic medicine. They worry about the possible misuse of information about genetic traits as a basis for denial of health coverage or employment. Other ethical issues in the field of genetics include: gene patents, the storage of DNA samples, and testing minors for adult-onset conditions. Given these concerns, detailed counseling, informed consent, and confidentiality are essential components of the genetic testing process.

Prepared by the CT Department of Public Health

4 II. UMBRELLA ORGANIZATIONS & REFERENCES 6

A. Umbrella Organizations GENETIC ALLIANCE and References: 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008 Phone: 800-336-4363or 202-966-5557 Fax: 202-966-8553 Email: [email protected] www.geneticalliance.org The Genetic Alliance is an international coalition comprising millions of individuals with genetic conditions and over 600 advocacy, research and health care organizations. The staff and board work together to empower individuals and families living with genetic conditions.

MARCH OF DIMES 1275 Mamaroneck Avenue White Plains, NY 10605 Phone: 888-663-4637or 914-428-7100 Fax: 914-997-4763 Email: [email protected] www.modimes.org The mission of the foundation is to improve the health of babies by preventing birth defects and infant mortality. The March of Dimes funds programs of research, community services, education, and advocacy.

Connecticut Chapters: 255 Pitkin Street East Hartford, CT 06108 Phone: 860-290-5440 Fax: 860-290-5433 Email: [email protected] www.marchofdimes.com/connecticut

South Division: 11 Belden Avenue Norwalk, CT 06850 Phone: 203-849-9800 Fax: 203-847-8060 Email: [email protected] www.marchofdimes.com/connecticut

7 Maine Chapters: Vermont Chapter: 60 Gray Road, Unit #8 107 N Main Street Falmouth, ME 04105-2024 Barre, VT 05641 Phone: 207-878-1199 Phone: 802-479-3265 Fax: 207-878-1166 Fax: 802-479-0957 Email: [email protected] Email: [email protected] www.marchofdimes.com/maine/ www.marchofdimes.com/vermont/

Maine Satellite: NEW ENGLAND REGIONAL 51 Fern Street GENETICS GROUP, INC. Turner, ME 04282 PO Box 920288 Phone: 207-225-6155 Needham, MA 02492 Fax: 207-225-6156 Phone: 781-444-0126 Fax: 781-444-0127 Northern Division: Email: [email protected] 12 Acme Road www.nergg.org Brewer, ME 04412 NERGG, Inc., formerly known as the New Phone: 207-989-3376 England Regional Genetics Group, is a Fax: 207-989-5500 consortium of genetic health services providers, representatives of the New Massachusetts Chapter: England public health community, and 114 Turnpike Road, Suite 202 support groups and individuals with interest Westborough, MA 01581 in genetics. NERGG, Inc.'s purpose is to Phone: 508-366-9066 promote the health of both children and Fax: 508-366-6634 adults by increasing the awareness of Email: [email protected] genetic concerns, the understanding of www.marchofdimes.com/ the role of genetics in health care, and massachusetts/ the availability of appropriate services. NERGG, Inc. has a particular interest in Southeastern Division: programs with regional perspectives and 895 Mary Dunn Rd. activities. NERGG, Inc. is committed to, Hyannis, MA 02601 and actively involved in: public and pro- Phone: 508-790-1093 fessional education, data collection and Fax: 508-790-1094 dissemination, quality improvement in clinical care, application of new technolo- New Hampshire Chapter: gies, and the social and ethical issues 22 Bridge Street associated with human genetics. Concord, NH 03301 Phone: 603-228-0317 Fax: 603-228-0318 Email: [email protected] www.marchofdimes.com/ newhampshire/

Rhode Island Chapter: 260 West Exchange Street, Suite 002 Providence, RI 02903 Phone: 401-454-1911 Fax: 401-454-1970 Email: [email protected] www.marchofdimes.com/rhodeisland/

8 NATIONAL HEALTHY MOTHERS, U.S. NATIONAL NEWBORN HEALTHY BABIES COALITION SCREENING STATUS REPORT 121 North Washington Street www.genes-rus.uthscsa.edu/ Suite 300 nbsdisorders.pdf Alexandria, VA 22314 Lists status of newborn screening in the Phone: 703-836-6110 United States, state by state, including Fax: 703-836-3470 links to additional conditions states are Email: [email protected] screening for using tandem mass spec- www.hmhb.org trometry. Part of National Newborn Focuses attention on raising public aware- Screening and Genetics Resource Center, a ness of the basic components of prenatal cooperative agreement between the care – early care, good nutrition, avoidance Maternal and Child Health Bureau Genetic of drugs (e.g., tobacco and alcohol), and Services Branch and the University of promotion of breastfeeding. Texas Health Science Center at San Antonio Department of Pediatrics. NATIONAL ORGANIZATION FOR RARE DISORDERS (NORD) NATIONAL INSTITUTES OF HEALTH 55 Kenosia Avenue www.nih.gov P.O. Box 1968 U.S. Department of Health and Human Danbury CT 06813 Services A-Z index of NIH health resources, Phone: 800-999-6673 or 203-744-0100 clinical trials, health hotlines, MEDLINE plus, Fax: 203-798-2291 and drug information. Email: [email protected] www.rarediseases.org NATIONAL LIBRARY OF MEDICINE www.nlm.nih.gov NORD is a unique federation of voluntary health organizations dedicated to helping Part of the NIH, the world’s largest medical people with rare “orphan” diseases and library. Search on health topics, drug assisting the organizations that serve them. information, medical encyclopedia and NORD is committed to the identification, dictionary, news, directories, and other treatment, and cure of rare disorders, resources. Includes a link to “Genetics through programs of education, advocacy, Home Reference”, a web site for support research, and service. information about genetic conditions, disease summaries, gene and chromosome summaries, and a glossary of genetics B. On-Line Resources and medical terminology.

ON- LINE MENDELIAN INHERITANCE NATIONAL HUMAN GENOME IN MAN (OMIM) RESEARCH INSTITUTE www.ncbi.nlm.nih.gov/entrez/query/ www.genome.gov fcgi?db=OMIM An on-line listing of information for This database is a catalog of human genes researchers, consumers, support and and genetic disorders authored and edited advocacy groups, health professionals, and by Dr. Victor A. McKusick and his colleagues. policy makers. Includes links to clinical genetics resources, search engines and family GENETESTS history tools, support resources, support www.genetests.org groups, legal and ethical issues in genetics, and educational and genetic resources for Information for health professionals about health professionals such as primary care hundreds of genetic tests. Also includes providers and nurses. links to disease information and geographic listings of genetic services. 9 INFORMATION FOR GENETIC is composed of researchers, academicians, PROFESSIONALS clinicians, laboratory professionals, genetic www.kumc.edu/gec/geneinfo.html counselors, and nurses with the objectives of sharing research, informing health This comprehensive on-line service, based professionals, legislators, health policy at University of Kansas Medical Center, makers and the public about human provides clinical, research, and educational genetics, and facilitating interactions resources for genetic counselors, clinical amongst these groups. geneticists and medical geneticists. This site includes Human Genome Project NATIONAL SOCIETY OF GENETIC resources, centers, news and other online COUNSELORS (NSGC) sites; educational resources including Executive Office curricula, lesson plans and activities, courses, 401 N. Michigan AVenue books and other publications, videotapes, Chicago, IL 60611 and computer programs; listings of upcom- Phone: 312-321-6834 ing professional meetings in genetics; and Fax: 312-673-6972 information on careers in human genetics. Email: [email protected] www.nsgc.org C. Professional Genetics The NSGC is the leading voice, authority Societies and advocate for the genetic counseling profession, with the aim of promoting the AMERICAN COLLEGE OF MEDICAL genetic counseling profession as a recog- GENETICS (ACMG) nized and integral part of health care 9650 Rockville Pike delivery, education, research and public Bethesda, MD 20814 policy. In addition, the NSGC promotes Phone: 301-634-7127 the professional interests of genetic Fax: 301-634-7275 counselors and provides a network for Email: [email protected] professional communications. www.acmg.net ACMG is an organization composed of NATIONAL COALITION FOR HEALTH biochemical, clinical, cytogenetic, medical PROFESSIONAL EDUCATION IN and molecular geneticists, genetic coun- GENETICS (NCHPEG) selors and other health care professionals 2360 West Joppa Road, Suite 320 committed to the practice of medical Lutherville, MD 21093 genetics. The ACMG provides education, Phone: 410-583-0600 resources and a voice for the medical Fax: 410-583-0520 genetics profession. To make genetic Email: [email protected] services available to and improve the www.nchpeg.org health of the public, the ACMG promotes NCHPEG is a national effort to promote the development and implementation of health professional education and access methods to diagnose, treat and prevent to genetic disease. information about advances in human genetics. NCHPEG members are an inter- AMERICAN SOCIETY FOR HUMAN disciplinary group of leaders from health GENETICS professional organizations, support and 9650 Rockville Pike voluntary groups, government agencies, Bethesda, MD 20814 private industry, managed care organiza- Phone: 866-HUM-GENE or 301-634-7300 tions and genetics professional societies Email: [email protected] seeking to capitalize on the collective www.ashg.org expertise and experience of members and to reduce duplication of effort. 10 The American Society for Human Genetics D. Reference Texts Practical Genetic Counseling Emery and Rimoin’s Principles and by Harper, P. S. Practices of Medical Genetics Arnold Publishers, 6th Edition, 2004 by Connor, J. M., Pyeritz, R., Korf, B., This book provides up to date guidance and Rimoin, D. through the profusion of new genetic Churchhill Livingstone, 4th Edition, information and the associated psychoso- 2001 cial and ethical considerations and concerns. Extensive reference on the basic science and clinical applications of medical A Guide to Genetic Counseling genetics. For primary care physicians, by Baker, D. L., Schuette, J. L., specialists, and students. and Uhlmann, W. R. John Wiley & Sons, 1998 Management of Genetic Syndromes Defines theory, goals, and core by Cassidy, S. B. and Allanson, J. E. competencies associated with the Wiley-Liss, 2001 practice of genetic counseling. Covers 30 common genetic syndromes. Structural Fetal Abnormalities: Information on incidence, etiology and The Total Picture pathogenesis, natural history, diagnostic by Sanders, R., Blackmon, L. and criteria, spectrum of variation, recurrence Rosenatien, B. risk in siblings and offspring, and availability Textbook paperback, 2002 of prenatal diagnosis and diagnostic testing. Reference text of ultrasound Smith’s Recognizable Patterns of diagnosed fetal anomalies. Human Malformation by Jones, K. L. Ultrasound of Fetal Syndromes W. B. Saunders Company, 5th by Benacerraf, B. R. Edition, 1996 Churchhill Livingstone, 1998 Clinical atlas of malformations. Discusses Thorough quick reference volume of morphogenesis, genetics, genetic coun- ultrasound anomalies and possible seling and clinical diagnosis. syndromic etiologies, juxtaposed with ultrasound findings in specific syndromes. The Metabolic and Molecular Bases of Inherited Disease by Scriver, C. R., Sly W. S., Childs, B., Beaudet, A. L., Valle, D., Kinzler, K. W., and Vogelstein, B. McGraw-Hill, 8th Edition, 2000 The undisputed authority on genetic inheritance. Information about every known inherited disease.

The Practical Guide to the Genetic Family History by Bennett, R. L. Wiley-Liss, 1999 Thorough and well-organized with a complete index and references; especially useful for the primary care physician. 11 12 III. SUPPORT ORGANIZATIONS & RESOURCES ACHONDROPLASIA

This section lists contact information Little People of America for support groups, including New 5289 NE Elam Young Parkway England state chapters where appro- Suite F-700 priate. If your state of interest does Hillsboro, OR 97124 not appear to have a chapter for a Phone: 888-LPA-2001 or 503-846-1562 particular group, we suggest contact- Fax: 503-846-1590 ing that group's national office for Email: [email protected] assistance. www.lpaonline.org

District 1 (CT, ME, MA, NH, RI, VT) Director, Casey Hubelbank Phone: 203-641-9760 Email: [email protected] www.lpad1.org

ADDITIONAL WEB RESOURCES:

International Skeletal Dysplasia Registry at Cedars-Sinai Health System www.csmc.edu/medgenetics/3086.asp A referral center for research into the diagnosis, management, and etiology of skeletal dysplasias.

ADDITIONAL LITERATURE:

Little People: Learning to See the World Through My Daughter’s Eyes by Kennedy, D. Rodale Books, 2003 Written by the father of a child with achondroplasia, this book confronts the deepest of parental fears: What if my child is different? His search for an answer provides a penetrating look at how our culture of diversity clashes with the reality of disability and the belief that we have a right to the so-called perfect child.

Stones from the River by Hegi, U. Simon & Schuster, 1994 Fictional story of a woman with a skeletal dysplasia, coming of age just as Hitler’s pronouncements begin to threaten the Jewish residents of her town, and all of Germany.

14 Mendel’s Dwarf diagnosis, treatment, and prognosis of by Mawer, S. Alagille syndrome. Penguin Books, 1999 ALBINISM AND HYPOPIGMENTATION This novel tells the story of Benedict Lambert, a distant relative of Gregor National Organization for Albinism Mendel. Like Mendel, Lambert is a and Hypopigmentation (NOAH) brilliant geneticist. Unlike Mendel, P.O. Box 959 Lambert is a dwarf. The story is a mix East Hampstead, NH 03826 of humor and philosophy. Phone: 800-473-2310 or 603-887-2310 Fax: 800-648-2310 ADRENAL DISORDERS Email: [email protected] www.albinism.org National Adrenal Diseases For local resources, call national office. Foundation 505 Northern Boulevard Hermansky-Pudlak Syndrome Great Neck, NY 11021 Network, Inc. Phone: 516-487-4992 1 South Road Fax: 516-829-5710 Oyster Bay, NY 11771 Email: [email protected] Contact: Donna Appell www.medhelp.org/www/nadf.htm Phone: 800-789-9477 or 516-922-4022 Fax: 516-624-0640 Connecticut Contact: Eileen Corey Email: [email protected] Phone: 203-283-3546 www.hermansky-pudlak.org Email: [email protected] www.hpsnetwork.org

Maine Contact: Rachel Bennett Chediak Higashi Syndrome Association Phone: 207-549-5583 A division of the Hermansky-Pudlak Email: [email protected] Syndrome Network. www.chediak-higashi.org ADDITIONAL WEB RESOURCES: ADDITIONAL WEB RESOURCES: Your Adrenal Glands www.endocrineweb.com/adrenal.htm International Albinism Center at the Information on the anatomy and physiol- University of Minnesota ogy of the adrenal glands. www.sbs.umn.edu/iac Web page of a multidisciplinary group of ALAGILLE SYNDROME researchers with interests in clinical genetics, molecular biology, ophthalmol- Alagille Syndrome Alliance ogy, dermatology, and biochemistry, all 10500 SW Starr Drive with the goal of understanding the causes Tualatin, OR 97062 and effects of albinism and other forms of Phone: 503-885-0455 pigment loss in humans. Email: [email protected] www.alagille.org ADDITIONAL LITERATURE:

ADDITIONAL WEB RESOURCES: Too White to be Black and Too Cincinnati Children’s Hospital Medical Black to be White Center page on Alagille syndrome by Edwards, L.G.; Authorhouse, 2001 www.cincinnatichildrens.org/svc/pro/ Expresses the true emotion and life liver/diseases/alagille-syndrome.htm experiences of the author, an African Information on genetics, signs and symptoms, American with albinism. 15

ALZHEIMER S DISEASE Alzheimer’s Foundation of America 322 8th Avenue, 6th floor Alzheimer’s Association New York, NY 10001 225 North Michigan Avenue Phone: 866-232-8484 Suite 1700 Fax: 646-638-1546 Chicago, IL 60601 Email: [email protected] Phone: 800-272-3900 or 312-335-8700 www.alzfdn.org Fax: 312-335-1110 (Members section links to local support Email: [email protected] groups by state) www.alz.org ADDITIONAL WEB RESOURCES: Connecticut Chapter: 279 New Britain Road Alzheimer’s Disease Education and P.O. Box 454 Referral Center (ADEAR) Kensington, CT 06037 www.alzheimers.org Phone numbers: A service of the National Institute on Aging, Helpline: 866-363-6679 the ADEAR center is a site that can be used Business line: 860-282-2828 to find current, comprehensive Alzheimer’s Fax: 860-828-2417 Disease information and resources. www.alzct.org (links to 98 support groups) ADDITIONAL LITERATURE: Maine Chapter: 163 Lancaster St; Suite 160B Alzheimer’s Early Stages: First Steps Portland, ME 04101 for Family, Friends, and Caregivers Helpline: 800-660-2871 by Kuhn, D. and Bennett, D.A. Business Line: 207-772-0115 Hunter House, 2nd Edition, 2003 Fax: 207-772-0354 Information on risk factors, treatment, www.mainealz.org prevention, medications, financial aspects, and reflections by family members. Massachusetts Chapter: 311 Arsenal Street Learning to Speak Alzheimer’s: A Watertown, MA 02472 Groundbreaking Approach for Helpline(s): 800-548-2111 Everyone Dealing with the Disease Business Line: 617-868-6718 by Coste, J.K. Fax: 617-868-6720 Houghton Mifflin, 2003 www.alzmass.org Provides hundreds of practical tips to ease life for everyone coping with Rhode Island Chapter: Alzheimer’s disease. 245 Waterman Street, Suite 306 Providence, RI 02906 AMYOTROPHIC LATERAL SCLEROSIS Helpline(s): 800-244-1428 Business Line: 401-421-0008 ALS Association Fax: 401-421-0115 27001 Agoura Road www.alz-ri.org Suite 150 Calabasas Hills, CA 91301 Vermont and New Hampshire Chapter: Phone: 800-782-4747 or 818-880-9007 10 Ferry Street Suite 42B Fax: 818-880-9006 Concord, NH 03301 Email: [email protected] Helpline(s): 800-272-3900 www.alsa.org Business Line: 802-477-7000 Fax: 802-477-7003 www.alzvtnh.org 16 Connecticut Chapter: American Lung Association 4 Oxford Road 61 Broadway, 6th floor Unit D1 New York, NY 10006 Milford, CT 06460 Phone: 800-586-4872 or 212-315-8700 Phone: 877-257-2281 or 203-874-5050 Fax: 212-315-8800 Fax: 203-874-7070 Email: [email protected] Email: [email protected] www.lungusa.org Contact Person - Joan Argento www.alsact.org Connecticut Chapter: American Lung Association of Massachusetts Chapter: Connecticut 75 McNeil Way, Ste. 310 45 Ash Street Dedham, MA 02026 East Hartford, CT 06108 Phone: 781-326-8884 Phone: 800-586-4872 or 860-289-5401 Fax: 781-326-4940 FAX: 860-289-5405 Contact Person - Judy Teplow Email: [email protected] Emails: [email protected] www.alact.org www.als-ma.org

Northern New England Chapter: (covers Maine, Vermont and New Hampshire) The Concord Center 10 Ferry St., Ste. 438 Box 314 Concord, NH 03301 Phone: 603-226-8855 Goldfish have more... Fax: 603-226-8890 chromosomes than Contact Person - Cheryl Flanders Email: [email protected] humans. www.alsanne.org

Rhode Island Chapter: Gateway Plaza 1637 Warwick Ave. Massachusetts Chapters: Warwick, RI 02889 American Lung Association of Phone: 401-732-1609 Massachusetts Fax: 401-732-2577 460 Totten Pond Road, Suite 400 Contact Person - Lynn McGovern Waltham, MA 02451-1991 Email: [email protected] Phone: 781-890-4262 www.alsari.org Fax: 781-890-4280 Email: [email protected] ASTHMA www.lungusa2.org/massachusetts/ index.html Allergy and Asthma Network — Mothers of Asthmatics, Inc. American Lung Association of 2751 Prosperity Avenue Massachusetts (Western Area) Suite 150 393 Maple Street Fairfax, VA 22031 Springfield, MA 01105-1954 Phone: 800-878-4403 or 703-641-9595 Phone: 413-737-3506 Fax: 703-573-7794 Fax: 413-737-3511 Email: [email protected] Email: [email protected] www.breatherville.org www.lungusa2.org/massachusetts/ index.html 17

Maine Chapter: Asthma and Allergy American Lung Association of Maine Foundation of America, Inc. 122 State Street 1233 20th Street NW Augusta, ME 04330 Suite 402 Phone: 207-622-6394 Washington, DC 20036 Fax: 639-426-2919 Phone: 800-727-8462 or 202-466-7643 EMail: [email protected] Fax: 202-466-8940 www.mainelung.org Email: [email protected] www.aafa.org New Hampshire Chapter: American Lung Association of New New England Chapter: Hampshire 220 Boylston Street 9 Cedarwood Drive, Unit 12 Chestnut Hill, MA 02467 Bedford, NH 03110 Phone: 877-2-ASTHMA or 617-965-7771 Phone: 603-669-2411 Fax: 617-965-8886 Fax: 603-645-6220 Email: [email protected] Email: [email protected] www.asthmaandallergies.org www.nhlung.org/ ADDITIONAL WEB RESOURCES: Rhode Island Chapter: Global Initiative for Asthma (GINA) American Lung Association of Rhode www.ginasthma.com Island 298 West Exchange Street Objectives of GINA include: increase Providence, RI 02903-3700 awareness of asthma and its public health Phone: 401-421-6487 consequences, reduce morbidity and Fax: 401-331-5266 mortality, improve management, and Email: [email protected] increase the availability and accessibility www.lungusa2.org/rhodeisland/ of effective asthma therapy. index.html ADDITIONAL LITERATURE: Vermont Chapter: The Harvard Medical School Guide to American Lung Association of Vermont Taking Control of Asthma: A 30 Farrell Street Comprehensive Prevention and South Burlington, VT 05403-6196 Treatment Plan for You and Your Phone: 802-863-6817 Family Fax: 802-863-6818 by Fanta, C.H., Cristiano L.M., and Email: [email protected] Haver, K. www.lungusa2.org/vermont/ Simon & Schuster, 2003 American Academy of Discusses diagnosis, symptoms, individual Allergy Asthma and Immunology management plans, current therapies, 555 East Wells Street and pros and cons of medications. Suite 110 Milwaukee, WI 53202 ATAXIA TELANGIECTASIA Phone: 800-822-2762 or 414-272-6071 Fax: 414-272-6070 Ataxia Telangiectasia Childrens Project Email: [email protected] 6685 Military Trail www.aaaai.org Deerfield Beach, FL 33442 Phone: 800-543-5728 or 954-481-6611 Fax: 954-725-1153 Email: [email protected] www.atcp.org 18 For local resources, call national office. A-T Medical Research Foundation Massachusetts Chapter: 5241 Round Meadow Road 47 Walnut Street Hidden Hills, CA 91302 Wellesley Hills, MA 02481 Phone: 818-704-8146 Phone: 781-237-0272 Fax: 818-704-8310 Email: [email protected] Email: [email protected] www.geocities.com/asamasschapter/ Contact: Pamela Smith New Hampshire Chapter: ADDITIONAL WEB RESOURCES: PO Box 68 Concord, NH 03302 Ataxia Telangiectasia Mutation Phone: 603-679-2424 Database Email: [email protected] www.vmresearch.org/bri_investiga- www.nhautism.com/ tors/atm.htm Scientific site containing listings of AT Rhode Island Chapter: mutations associated with cancer, AT PO Box 16603 polymorphisms and variants, and Rumford, RI 16603 nucleotide sequence of AT gene. Phone: 401-595-3241 Includes clinical information on AT. Vermont Chapter: AUTISM PO Box 978 White River Junction, VT 05001 Autism Research Institute Phone: 800-559-7398 4182 Adams Avenue San Diego, CA 92116 National Alliance for Autism Phone: 619-281-7165 Research Fax: 619-563-6840 Research Park www.autismresearchinstitute.com 99 Wall Street Princeton, NJ 08540 Autism Society of America Phone: 888-777-6227 or 609-430-9160 7910 Woodmont Avenue Fax: 609-430-9163 Suite 300 Email: [email protected] Bethesda, MD 20814 www.naar.org Phone: 800-3AUTISM or 301-657-0881 Fax: 301-657-0869 NAAR — New England Chapter www.autism-society.org 124 Watertown Street Suite 3B, Box 6 Connecticut Chapter: Watertown, MA 02472 P.O. Box 1404 Phone: 617-924-3300 Guilford, CT 06437 Fax: 617-924-3311 Phone: 888-453-4975 Email: [email protected] Email: [email protected] www.autismsocietyofct.org ADDITIONAL WEB RESOURCES:

Maine Chapter: Exploring Autism: A Look at the 72B Main Street Genetics of Autism Winthrop, ME 04364 www.exploringautism.org Phone: 800-273-5200 A web site dedicated to helping families Email: [email protected] who are living with the challenges of www.asmonline.org/ autism. A collaborative effort of Autism Genetics Cooperative, a group of researchers and clinicians working to find the genetic causes of autism. 19 ADDITIONAL LITERATURE: BATTEN DISEASE Children with Autism: A Parents Batten Disease Support and Guide Research Association by Powers, M.D. and Grandin, T. 120 Humphries Drive Woodbine House, 2nd Edition, 2000 Suite 2 Includes chapters on diagnosis and treat- Reynoldsburg, OH 43068 ment, adjusting to life with an autistic Phone: 800-448-4570 or 740-927-4298 child, finding good education programs, Fax: 614-445-4191 legal rights of the autistic child, becom- Email: [email protected] ing an advocate for a child and special www.bdsra.org problems and needs of the adult with autism. Provides a list of resources for New England Chapter: autistic individuals in the United States. Diane Burl 22 Carver Street Facing Autism: Giving Parents Reasons Granby, MA 01033 for Hope and Guidance for Help Phone: 413-467-2294 By Hamilton, L.M. Waterbrook Press, 2000 A treasury of detailed, helpful information from a mother who carefullly investigated all promising treatment approaches.

Family Pictures: A Novel by Miller, S. Perennial, 1999 If typed, the genetic code A fictional story told through the eyes of of a human would fill about 134 four family members. The complexity of family relationships is illustrated through complete sets of the their reactions to a family member with Encyclopedia Brittanica. autism.

Nobody Nowhere: The Extraordinary Autobiography of an Autistic ADDITIONAL WEB RESOURCES: by Williams, D. The Natalie Fund Crown, 1992 www.nataliefund.org The author details what it is like to grow Striving to find a treatment and cure for up autistic and the price one pays for Batten Disease. Goals include raising being “high-functioning.” funds for research, enhancing community Somebody Somewhere: Breaking Free awareness, and providing information from the World of Autism and support for families with affected by Williams, D. children. Crowns, 1994 Sequel to “Nobody Nowhere,” the BECKWITH-WIEDEMANN author describes her life as a published SYNDROME author and graduate student. Beckwith-Wiedemann Support Network www.beckwith-wiedemann.org 20 CANAVAN DISEASE CANCER

Canavan Foundation American Cancer Society 450 West End Avenue #10C 1599 Clifton Road, NE New York, NY 10024 Atlanta, GA 30329 Phone: 877-4-CANAVAN or 212-873-4640 Phone: 800-227-2345 or 404-320-3333 Fax: 212-873-7892 Email available through web site only. Email: [email protected] www.cancer.org www.canavanfoundation.org CONNECTICUT CHAPTERS National Tay-Sachs and Allied 372 Danbury Road Diseases Association Wilton, CT 06897 2001 Beacon Street Phone: 203-563-0740 Suite 204 Fax: 203-563-0738 Brighton, MA 02135 Phone: 800-906-8723 238 West Town Street Fax: 617-277-0134 Norwich, CT 06360 Email: [email protected] Phone: 860-887-2547 www.ntsad.org Fax: 860-885-0820

Connecticut Chapter: Meriden Executive Park (Serving Connecticut, New Jersey and 538 Preston Avenue New York) Meriden, CT 06450 1202 Lexington Avenue #288 Phone: 203-379-4700 New York, NY 10028 Fax: 203-379-5060 Phone: 888-354-7788 or 212-431-0431 Fax: 888-354-4884 Maine Chapter: Email: [email protected] One Main Street; Suite 300 www.ntsad-ny.org Topsham, ME 04086 Phone: 207-373-3700 ADDITIONAL WEB RESOURCES: Fax: 207-725-6680 Center for Jewish Diseases Mt. Sinai School of Medicine Massachusetts Chapters: www.mssm.edu/jewish_genetics/ 18 Tremont St diseases/canavan.shtml Suite 700 Boston, MA 02108 Includes disease description, natural Phone: 617-556-7400 history, genetics and testing information. Fax: 617-263-6825 Medical College of Wisconsin 1115 W Chestnut St HealthLink: The Facts about Canavan Brockton, MA 02301 Disease Phone: 508-584-9600 www.healthlink.mcw.edu/article/ Fax: 508-584-9699 921391101.htm Provides disease description, including 59 Bobala Rd screening and diagnosis, signs and Holyoke, MA 01040 symptoms, and research, and links to Phone: 413-734-6000 other informative sites. Fax: 413-493-2199

9 Riverside Rd ADDITIONAL WEB RESOURCES: Weston, MA 02493 Phone: 781-894-6633 National Cancer Institutes CancerNet Fax: 781-314-2699 www.cancer.gov/cancerinfo/prevention-genetics-causes 350 Plantation St Authoritative information about cancer Worcester, MA 01604 genetics. Phone: 508-270-4600 Fax: 508-751-8095 Harvard Center for Cancer Prevention www.yourcancerrisk.harvard.edu New Hampshire Chapter: Personalized estimation of cancer risk 360 Route 101, Unit #8 and tips for prevention. The Gail Singer Memorial Building Bedford, NH 03110 Guide to Internet Resources for Cancer Phone: 603-472-8899 www.cancerindex.org Fax: 603-472-7093 Nonprofit guide containing over 100 pages Rhode Island Chapter: and over 4000 links to cancer related 222 Richmond St. information. Site is regularly updated. Suite 200 ADDITIONAL LITERATURE: Providence, RI 02903 Phone: 401-722-8480 A Practical Guide to Human Cancer Fax: 401-421-0535 Genetics by Hodgson, S.V. and Maher, E.R. Vermont Chapter: Cambridge University Press, 2nd 121 Connor Way, Ste 240 Edition, 1999 Williston, VT 05495 Phone: 802-872-6300 An essential overview of human Fax: 802-872-6399 cancer genetics.

Candlelighters Childhood Cancer Counseling About Cancer: Strategies Foundation for Genetic Counseling P.O. Box 498 by Schneider, K. Kensington, MD 20895 Wiley-Liss, 2nd Edition, 2001 Phone: 800-366-2223 or 301-962-3520 A comprehensive resource including Fax: 301-962-3521 medical and psychological issues, cancer Email: [email protected] risk counseling, predisposition testing, www.candlelighters.org and essential references.

New Hampshire Chapter: Healing Lessons Childhood Cancer Lifeline of New by Winawer, S.J. and Taylor, N. Hampshire Rutledge, 1999 P.O. Box 395 Hillsboro, NH 03244 The story of Dr. Sidney Winawer, chief of Contact: Sylvia Pelletier, President gastroenterology at Memorial Sloan- Phone: 603-645-1489 Kettering Cancer Center, and his wife, [email protected] Andrea, dealing with her diagnosis of metastatic stomach cancer. Services: Candlelighters national books, support group meetings, in-hospital visits. It s Not About the Bike; My Journey Back to Life by Armstrong, L. and Jenkins, S. Berkley Publishing Group, 2001 22

The story of Lance Armstrong, a world- UCP of Greater Hartford class athlete nearly struck down by cancer, 80 Whitney Street only to recover and win the grueling and Hartford, CT 06105 intense Tour de France. Phone: 860-236-6201 Fax: 860-236-6205 Staying Alive — A Family Memoir Email: [email protected] by Reibstein, J. www.ucpect.org Bloomsbury Publishing PLC, 2002 UCP of Southern Connecticut Follows a successful, ethnically mixed 94-96 South Turnpike Road American family typical only in the Wallingford, CT 06492 diagnosis of breast cancer that hangs like Phone: 203-269-3511 a dark cloud over all its women. Fax: 203-269-7411 Email: [email protected] The Truth About Breast Cancer Risk www.ucpasouthernet.com Assessment by Hollingsworth, A.B. Massachusetts Chapters; National Writers Press, 2000 UCP of Berkshire County Learn how risk factors are assembled into 208 West Street a personal profile. Pittsfield, MA 01201 Phone: 413-442-1562 CARBOHYDRATE-DEFICIENT Fax: 413-499-4077 GLYCOPROTEIN SYNDROME E-mail: [email protected] www.ucpberkshire.org CDG Family Network Foundation P.O. Box 860847 UCP of MetroBoston Plano, TX 75086 71 Arsenal Street Phone: 800-250-5273 Watertown, MA 02472 Fax: 972-633-8088 Phone: 617-926-5480 Email: [email protected] Fax: 617-926-3059 www.cdgs.com E-mail: [email protected] www.ucpboston.org CEREBRAL PALSY Maine Chapter: United Cerebral Palsy Association UCP of Northeastern Maine 1660 L Street NW 700 Mt. Hope Avenue, Suite 320 Suite 700 Bangor, ME 04401 Washington, DC 20036 Phone: 207-941-2952 Phone: 800-872-5827 or 202-776-0406 Fax: 207-941-2955 Fax: 202-776-0414 E-mail: [email protected] Email: [email protected] www.ucpofmaine.org www.ucp.org Rhode Island Chapter: Connecticut Chapters: UCP of Rhode Island UCP of Eastern Connecticut 200 Main Street, Suite 210 42 Norwich Road P.O. Box 36 Quaker Hill, CT 06375 Pawtucket, RI 02862 Phone: 860-443-3800 Phone: 401-728-1800 Fax: 860-443-8272 Fax: 401-728-0182 Email: [email protected] E-mail: [email protected] www.ucpect.org www.ucpri.org

ADDITIONAL WEB RESOURCES: CHROMOSOME ABNORMALITIES

National Disability Sports Alliance (See also Down syndrome, Klinefelter www.ndsaonline.org syndrome, Turner syndrome, Fragile X Servicing all individuals with physical syndrome) disabilities in the areas of sports, fitness, and recreation. Also known as the Chromosome Deletion Outreach United States Cerebral Palsy Athletic P.O. Box 724 Association. Boca Raton, FL 33429 Phone: 561-395-4252 The Cerebral Palsy Network Fax: 561-395-4252 call first www.geocities.com/Heartland/Plains/ Email: [email protected] 8950 www.chromodisorder.org A resource for information, sharing, and 4p- Support Group support. P.O. Box 1676 Gresham, OR 97030 ADDITIONAL LITERATURE: Phone: 503-661-7546 Cerebral Palsy: A Complete Guide for Email: [email protected] Caregiving www.4p-supportgroup.org by Miller, F. and Bachrach, S.J. Johns Hopkins University Press, 1998 5p- Society P.O. Box 268 This overview of CP explains medical Lakewood, CA 90714 procedures and medical and psychological Phone: 888-970-0777or 562-804-4506 implications, discusses advocacy, provides Fax: 562-920-5240 recommended reading and a list of resources. Email: [email protected] www.fivepminus.org or CHARCOT-MARIE-TOOT H www.criduchat.org

Charcot-Marie-Tooth Association Northeastern Regional 2700 Chestnut Street Family Support Coordinator: Chester, PA 19013 Contact Ruthie Liberman Phone: 800-606-2682 Lexington, MA Fax: 610-499-9267 Phone: 781-861-3962 Email: [email protected] www.charcot-marie-tooth.org 8p Duplication Support Group www.cmtinfo.org The Genetics Center 1 Children’s Plaza Connecticut Chapater: Dayton, OH 45404 Contact Beverly Wurzel Phone: 937-641-3800 Phone: 845-783-2815 New patient: 937-641-4000 Email: [email protected] Fax: 937-463-5325 Email: [email protected] ADDITIONAL WEB RESOURCES: www.cmc-dayton.org

CMTnet Chromosome 9p- Network www.users.rcn.com/smith.ma.ultr- P.O. Box 54 ranet/CMTneto.html Stanley, ID 83278 Repository of information on research Phone: 435-574-1121 and treatment of CMT for both the med- Fax: 435-574-2000 ical and non-medical community. Email: [email protected] 24 www.9pminus.org

11q Research and Resource Group New Hampshire contact: 83 Lantern Hill Road Marie Primeau Mystic, CT 06355 19 West Ridge Drive Phone: 860-599-4015 Peterborough, NH 03458 Fax: 860-441-6159 Phone: 603-924-3603 http://web.ukonline.co.uk/c.jones/11q/ Email: [email protected] contents.htm Trisomy 18 Support Foundation, Inc. Trisomy 12p Parent Support 4491 Cheshire Station Plaza Organization Suite 157 175 Lawndale Road Dale City, VA 22193 Mansfield, MA 02048 Phone: 703-878-7013 Phone: 508-339-1680 Fax: 703-878-7013 Fax: 508-339-0504 Email: [email protected] Email: [email protected] www.trisomy18support.org

IDEAS (Isodicentric 15 Exchange, Advocacy, and Support) Chromosome 18 Registry and 18 Kings Road Research Society Canton, MA 02021 7155 Oakridge Drive Phone: 508-253-2872 San Antonio, TX 78229 Email: [email protected] Phone: 210-657-4968 www.idic15.org Fax: 210-657-4968 Email: [email protected] Disorders of Chromosome 16 www.chromosome18.org Foundation 1321 Marcy Street New England Regional Coordinator: Iowa City, IA 52240 Deb Ammann Email: [email protected] Phone: 631-223-3039 www.trisomy16.org Email: [email protected] Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) 2982 South Union Street Rochester, NY 14624 Phone: 800-716-7638 or 585-594-4621 Fax: 716-594-1957 Email: [email protected] www.trisomy.org

Connecticut contact: Lisa and Robert Handel Sometimes genes “jump” 1473 Forbes Street East Hartford, CT 06118 around on a chromosome. Phone: 860-568-0171 Email: [email protected]

Massachusetts and Maine contact: Michael and Pamela Healey 18 Richard Rd. Lexington, MA 02421 Phone: 781-862-8273 Email: [email protected] 25 22q and You Center Email: [email protected] The Department of Clinical Genetics www.aboutfaceusa.org The Children’s Hospital of Philadelphia Call main office or check web site for 34th Street and Civic Center Boulevard local support groups. Philadelphia, PA 19104 Phone: 215-590-2920 American Cleft Palate — Craniofacial Fax: 215-590-3298 Association Email: [email protected] 1504 East Franklin Street www.chop.edu/consumer/jsp/ Suite 102 division/generic.jsp?id=74631 Chapel Hill, NC 27514 Phone: 919-933-9044 Maine Contact: Fax: 919-933-9604 Sharon Smith Email: [email protected] RR 2 Box 8780 www.cleftpalate-craniofacial.org Canaan, ME 04924 Phone: 207-474-5374 Childrens Craniofacial Association Email: [email protected] 13140 Coit Road Suite 307 New Hampshire Contact: Dallas, TX 75240 Maureen Anderson Phone: 800-535-3643 Fax: 214-570-8811 2 Lansing Drive Email: [email protected] Salem, NH 03079 www.ccakids.com Phone: 613- 898-6332 Email: [email protected] Cleft Palate Foundation 1504 East Franklin Street Ring Chromosome 22 Email Suite 102 Discussion List Chapel Hill, NC 27514 14 Westwood Acres Phone: 800-242-5338 Morris, MN 56267 Fax: 919-933-9044 Phone: 320-589-1050 Email: [email protected] Email: [email protected] www.cleftline.org www.maelstrom.stjohns.edu/archives/r2 2.htm F.A.C.E. (Families Advancing Craniofacial Excellence) ADDITIONAL LITERATURE: P.O. Box 185 Unionville, CT 06085 Chromosome Abnormalities and Phone: 860-673-1829 Genetic Counseling Fax: 860-673-1829 by Gardner, RT.J.M. and Sutherland, G.R. Email: [email protected] Oxford University Press, 3rd Edition, 2003 www.smilesforchildren.org A textbook/reference for genetic counselors FACES: The National Craniofacial and cytogenetic laboratory workers. Presents Association the theoretical basis of clinical cytogenetics. P.O. Box 11082 Chattanooga, TN 37401 CLEFT LIP/PALATE AND Phone: 800-332-2373 CRANIOFACIAL DISORDERS Fax: 423-267-3124 Email: [email protected] AboutFace USA www.faces-cranio.org P.O. Box 158 Let s Face It South Beloit, IL 61080-0158 P.O. Box 29972 Phone: 888-486-1209 Bellingham, WA 98228 Fax: 630-761-2985 Phone: 360-676-7325 26 Fax: contact office for faxing information COFFIN-LOW RY SYNDROME Email: [email protected] www.faceit.org Coffin-Lowry Syndrome Foundation 3045 255th Avenue SE ADDITIONAL WEB RESOURCES: Sammamish, WA 98075 Phone: 425-427-0939 Smiles Email: [email protected] www.cleft.org www.clsf.info A group of dedicated families who have developed a first-hand understanding of Maine Contact: the needs of children with cleft lip, cleft Mark & Lynn Richards palate and craniofacial abnormalities. 90 Hunts Meadow Road Whitefield, ME 04353 Wide Smiles Phone: 207-549-5511 www.widesmiles.org Email: [email protected] Offers support, inspiration, information and networking for families dealing Massachusetts Contact: with the challenges associated with cleft- Ronald and Deborah Gallagher ing. 45 Harrison Avenue Williamstown, MA 01267 ADDITIONAL LITERATURE: Phone: 413-458-2213 Email: [email protected] A Parents Guide to Cleft Lip and Palate CONGENITAL ADRENAL by Moller, K.T., Starr, C.D. and HYPERPLASIA Johnson, S.A. University of Minnesota Press, 1990 CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, One parent has said that this book Education and Support) should be required reading for every 189 Main Street new parent of a child with a cleft lip or 2nd floor palate. Available used or at libraries. Millburn, NJ 07041 Babyface: A Story of Heart and Bones Phone: 866-227-3737 or 973-912-3895 by McDermott, J. Fax: 973-912-3894 Penquin Books, 2002 Email: [email protected] www.caresfoundation.org The story of a child with Apert syndrome. Available used or at libraries. Connecticut contact: Lynn Torony Cleft Lip and Palate: From Origin to Phone: 203-264-6898 Treatment Fax: 203-264-0529 by Wyszynski, D.F. Email: [email protected] Oxford University Press, 2002 Addressing issues that are relevant to Maine contact: clinicians, researchers and family members, Jeff & Jody Spear this book is a comprehensive, well- Phone: 207-832-2006 illustrated and up-to-date account of the Email: [email protected] many facets of this common disorder.

ADDITIONAL WEB RESOURCES: ADDITIONAL WEB RESOURCES:

CAH Education and Support Network CDLS Online Support Group www.congenitaladrenalhyperplasia.org www.cdls-support.org This online group focuses on parents, Includes: “What Is CAH?”, message boards, caregivers and families, friends, teachers medical links, glossary, and Frequently and other professionals. Includes email Asked Questions. group for siblings, and Spanish speaking members. CONGENITAL HYPOTHYROIDISM

American Foundation of Thyroid CROHN S DISEASE AND COLITIS Patients Crohns and Colitis Foundation of P.O. Box 4914 America Odessa, TX 79760 386 Park Avenue South Email: [email protected] 17th floor www.thyroidfoundation.org New York, NY 10016 Thyroid Foundation of America, Inc. Phone: 800-932-2423 or 212-685-3440 1 Longfellow Place Fax: 212-779-4098 Suite 1518 Email: [email protected] Boston, MA 02114 www.ccfa.org Phone: 800-832-8321 Fax: 617-534-1515 Email: [email protected] www.allthyroid.org

ADDITIONAL WEB RESOURCES:

Educating Parents of Extra-Special Children www.epeconline.com/Congenital Humans are 99.9% Hypothyroidism.html identical - only 0.1% of our Information for adults with special needs genetic makeup differs. and parents of special needs children. Overview of congenital hypothyroidism with links to American Academy of Pediatrics. Connecticut Chapters: CORNELIA DE LANGE SYNDROME

Cornelia de Lange Syndrome Central Connecticut Chapter Foundation P.O. Box 185431 302 West Main Street Hamden, CT 06518 Suite 100 Phone: 203-393-8964 Avon, CT 06001 Fax: 203-248-7832 Phone: 800-223-8355 or 860-676-8166 Email: [email protected] Fax: 860-676-8337 Email: [email protected] Fairfield/Westchester Chapter www.cdlsusa.org 200 Bloomingdale Road White Plains, NY 10605 Phone: 914-328-2874 Fax: 914-328-2946 28 Email: [email protected]

Northern Connecticut Affiliate Connecticut Chapter: P.O. Box 370614 185 Silas Deane Highway West Hartford, CT 06137 Wethersfield, CT 06109 Phone: 800-841-2828 or 860-257-6907 New England Chapter: Fax: 860-257-6903 Contact: Stacey Snyder Email: [email protected] Phone: 800-314-3459 ext. 13 www.cff.org/connecticut.htm or 781-449-0324 Fax: 781-449-0325 Massachusetts/Rhode Island Chapter: Email: [email protected] Natick, MA Phone: 508-655-6000 ADDITIONAL WEB RESOURCES: Email: [email protected] www.cff.org/Chapters/massachusetts/ Crohns Disease Resource Center www.healingwell.com/ibd Northern New England Chapter: (Maine, This site includes a resource directory, New Hampshire and Vermont) message boards, chat rooms, and links to Nashua, NH other organizations. Phone: 603-598-8191 Email: [email protected] ADDITIONAL LITERATURE: www.cff.org/Chapters/newengland/

The First Year — Crohns Disease and ADDITIONAL WEB RESOURCES: Ulcerative Colitis: An Essential Guide for the Newly Diagnosed Cystic Fibrosis Mutational Database by Sklar, J. and Sklar, M. www.genet.sickkids.on.ca/cftr Marlowe & Company, 2002 This database of mutations in CFTR gene Covers strategies for necessary lifestyle provides CF researchers and related profes- changes, guidelines and tips for modifying sionals with up-to-date information about diet, choosing a medical team, discussing individual mutations. the condition with family, current medical research, support resources, and more. Cystic Fibrosis.com www.cysticfibrosis.com The Crohns Disease and Ulcerative This site incudes CF information, Colitis Fact Book frequently asked questions, a “Just for by the Crohn’s and Colitis Foundation Kids” section, and links to CF associations Banks, P.A., Present, D.H. and Steiner, P. and clinical trials. John Wiley & Sons, 1983 An older text but a good general Cystic Fibrosis Foundation introduction to the diseases. Genotyping Center www.hopkinsmedicine.org/ CYSTIC FIBROSIS cfgenotyping Their mission is to detect CFTR mutations The Cystic Fibrosis Foundation in patients with unusual forms of CF, 6931 Arlington Road coordinate collection of genotype/pheno- Suite 200 type information, and increase and facili- Bethesda, MD 20814 tate communication between CF Phone: 800-344-4823 or 301-951-4422 researchers and clinicians working with Fax: 301-951-6378 patients with non-classical CF. Email: [email protected] www.cff.org

The CF Pharmacy ADDITIONAL WEB RESOURCES: www.cfpharmacy.com Cystinosis Central Dedicated to research and development www.medicine.ucsd.edu/cystinosis/ of new cost-effective pharmacological INDEX.htm approaches to care and treatment of CF. Up-to-date site with general information, ADDITIONAL LITERATURE: links to other resources, physician information, and research. Alex: The Life of a Child by Deford, F. DEAFNESS/HEARING IMPAIRMENT Rutledge Hill Press, 1997 Alexander Graham Bell Association Sportswriter Deford’s story of his coura- for the Deaf and Hard of Hearing, Inc. geous daughter who died at age 8 due 3417 Volta Place, NW to complications of cystic fibrosis. Washington, DC 20007 Alive at 25: How Im Beating Cystic Phone: 800-432-7543 or 202-337-5220 Fibrosis Fax: 202-337-8314 by Lipman, A. Email: [email protected] Longstreet Press, 2002 www.agbell.org With links to state representatives and Candid, honest, inspiring personal web sites. account. Available used and at libraries. American Hearing Research Cystic Fibrosis: Foundation A Guide for Patient and Family 8 South Michigan Avenue by Orenstein, D.M. Suite 814 Lippincott, Williams and Wilkins, Chicago, IL 60603 3rd Edition, 2003 Phone: 312-726-9670 Fax: 312-726-9695 Clear advice on day-to-day management, Email: [email protected] school, travel, exercise, nutrition, medica- www.american-hearing.org tions, psychological effects, treatment, complications, long-term issues, and National Association of the Deaf prospects for a cure. 8630 Fenton Street Suite 820 CYSTINOSIS Silver Spring, MD 20910-3819 Phone: 301-587-1788 Cystinosis Foundation, Inc. Fax: 301-587-1791 604 Vernon Street Email: [email protected] Oakland, CA 94610 www.nad.org Phone: 800-392-8458 Has email links to current presidents of Fax: 559-222-7997 each state affiliate. Email: [email protected] www.cystinosisfoundation.org Connecticut Association of the Deaf Cystinosis Research Network http://www.deafct.org/ 10 Pine Avenue Burlington, MA 01803 Massachusetts Association of the Deaf Phone: 866-276-3669 or 781-229-6182 http://www.msad.org/ Fax: 781-229-6030 Email: [email protected] Rhode Island Association of the Deaf www.cystinosis.org http://www.riadeaf.org/

ADDITIONAL WEB RESOURCES: Fax: call for faxing information Email: [email protected] Finding Genes for Non-syndromic www.diabetes.org Deafness www.people.vcu.edu/~nance/index Connecticut Chapter: Provided by Gallaudet University and the 306 Industrial Park Road, Suite 105 Medical college of Virginia, this site Middletown, CT 06457 includes information on: causes of deaf- Phone: 203-639-0385 ness, patterns of inheritance, syndromic Fax: 860-632-5098 deafness gene mapping and molecular characterization of genetic deafness, Maine Chapter: treatment, and research. 163 Lancaster Street, Suite 98R Portland, ME 04101 ADDITIONAL LITERATURE: Phone: 207-774-7717 Fax: 207-774-7714 Genetics and Auditory Disorders by Keats, B.J.B., Popper, A.N. and Fay, Massachusetts Chapter: R.R. 330 Congress Street, 5th Floor Springer-Verlag, 2002 Boston, MA 02210 Informs reader about many clinical forms Phone: 617-482-4580 of genetic hearing loss, the mutations Fax: 617-482-1824 responsible and the function of proteins encoded by mutant genes. New Hampshire Chapter: 249 Canal Street Hereditary Hearing Manchester, NH 03101 Loss and Its Syndromes Phone: 603-627-9579 by Gorlin, R.J., Toriello, H.V. and Fax: 603-669-1477 Reardon, W. Oxford University Press, 2nd Edition, Rhode Island Chapter: 2004 222 Richmond St., Suite 204 Providence, RI 02903 Comprehensive and organized resource. Phone: 401-351-0498 Im Deaf and Its Okay Fax: 401-351-1674 by Aseltine, L., Mueller, E. and Tait, M. Albert Whitman & Company, 1986 Vermont Chapter: 1 Kennedy Drive, Suite L8 For children ages 4-8. South Burlington, VT 05403 Phone: 802-654-7716 My Sense of Silence: Memoirs of a Fax: 802-658-9145 Childhood with Deafness by Davis, L.J. Juvenile Diabetes Research Foundation University of Illinois Press, 2000 120 Wall Street, 19th floor Growing up as a hearing child of deaf New York, NY 10005 parents, the author has written a candid, Phone: 800-533-2873 affecting, and often funny memoir. Fax: 212-785-9595 Email: [email protected] DIABETES www.jdrf.org

American Diabetes Association 1701 North Beauregard Street Alexandria, VA 22311 Phone: 800-DIABETES or 888-DIABETES (for local contact) 31

Connecticut Chapters: ADDITIONAL WEB RESOURCES: North Central Connecticut and Western Massachusetts Chapter Children with Diabetes 18 North Main Street www.childrenwithdiabetes.com 3rd floor An online community for kids, families West Hartford, CT 06107 and adults with diabetes. Phone: 860-561-1153 Fax: 860-561-3440 Joslin Diabetes Center Email: [email protected] www.joslin.org www.jdrf.org/CT/North-Central-CT- Western-MA A Harvard Medical School affiliate and internationally recognized treatment, Fairfield County Chapter research, and education institution 200 Connecticut Avenue, Suite 5H headquartered in Boston, Massachusetts. Norwalk, CT 06854 American Association of Diabetes Phone: 203-854-0658 Educators Fax: 203-854-0798 www.aadenet.org Email: [email protected] www.jdrf.org/chapters/ct/ A multidisciplinary professional member- fairfield-county ship organization dedicated to advancing the practice of diabetes self-management, Greater New Haven Chapter training, and care. 2969 Whitney Avenue Hamden, CT 06518 ADDITIONAL LITERATURE: Phone: 203-248-1880 American Diabetes Association Fax: 203-248-1820 Complete Guide to Diabetes Email: [email protected] by the American Diabetes Association, www.jdrf.org/chapters/ct/ McGraw-Hill/Contemporary Greater-New-Haven Distributed Products, 3rd Edition, 2002 New England/Maine Chapter: 33 Silver St. A one volume comprehensive home Portland, ME 04101 reference on the best self-care techniques, Phone: 207-761-0133 latest medical breakthroughs, and all the Fax: 207-761-1687 information needed to live an active, Email: [email protected] healthy life with diabetes. www.jdrf.org/maine Diabetes for Dummies New England/New Hampshire Chapter: by Rubin, A.L. 2 Wellman Ave., Suite 340 For Dummies, 2nd edition,2004 Nashua, NH 03064 Addresses Type 1 and Type 2 diabetes, Phone: 603-595-2595 including: causes, symptoms, treatment, Email: [email protected] importance of diet and exercise, finding www.jdrf.org/newhampshire the right practitioner, building a support team, and finding help online. New England/Rhode Island Chapter: 2374 Post Road, Suite 203 Living with Juvenile Diabetes: A Warwick, RI 02886 Practical Guide for Parents and Phone: 401-738-9898 Caregivers Fax: 401-738-7162 by Puerrung, V. Email: [email protected] Hatherleigh Press, 2001 www.jdrf.org/rhodeisland 32 Written by a mother of two children with Rhode Island Chapter: diabetes, this book provides information Down Syndrome Congress of Rhode about exercise and nutrition, recipes, Island supplies, research trends, and more. 99 Bald Hill Road Cranston, RI 02920 DOWN SYNDROME Phone: 401-463-5751 www.dssri.org National Down Syndrome Congress 1370 Center Drive Suite 102 Atlanta, GA 30338 Phone: 800-232-6372 or 770-604-9500 Fax: 212-979-2873 or 770-604-9898 Email: [email protected] www.ndsccenter.org

Connecticut Chapter: Scientists have been able to Connecticut Down Syndrome Congress study the DNA of 30-million- 263 Farmington Avenue year-old and a MC-6222 termites Farmington, CT 06030 Neanderthal. Phone: 888-486-8537 Email: [email protected] www.ctdownsyndrome.org National Down Syndrome Society Maine Affiliate (serving all of Maine): 666 Broadway Sourthern Maine Down Syndrome Family Suite 810 Network New York, NY 10012 P.O. Box 705 Phone: 800-221-4602 or 212-460-9330 Windham, ME 04062 Fax: 212-979-2873 Phone: 866-571-2223 Email: [email protected] Fax: 866-571-2223 www.ndss.org Email: [email protected] Mulitple resources listed by state. www.downsyndromemaine.org Association for Children with Down Syndrome Massachusetts Down Syndrome Congress 4 Fern Place P.O. Box 866 Plainview, NY 11803 Melrose, MA 02176 Phone: 516-933-4700 Phone: 800-664-6372 Fax: 516-933-9524 Email: [email protected] Email: [email protected] www.mdsc.org www.acds.org New Hampshire Chapter: ADDITIONAL WEB RESOURCES: Northern New England Down Syndrome Congress Growth Charts for Children with P.O. Box 1234 Down Syndrome Concord, NH 03302 www.growthcharts.com Phone: 603-622-6904 www.nnedsc.org This web site includes a brief history of the genetic basis of Down syndrome and growth charts for children with and without Down syndrome. 33 Down Syndrome: Health Issues Expecting Adam: A True Story of www.ds-health.com Birth, Rebirth, and Everyday Magic by Beck, M. News and information for parents and Crown, 1999 professionals, provided by a pediatrician who is the father of a child with Down Autobiographical tale of an academically syndrome. oriented Harvard couple who discover pre- natally that their baby has Down syndrome. www.ds-health.com/ds_sites.htm Choosing Naia: A Familys Journey Includes a list of useful links to a wealth by Zuckoff, M. of resources about Down syndrome. Beacon Press, 2003 Compiled by a physician. Follows the story of a couple struggling ADDITIONAL LITERATURE: with grief and confusion and the decisions they face when faed with by abnormal Babies with Down Syndrome: a New prenatal test results. Parents Guide by Stray-Gundersen, K. Understanding Down Syndrome: An Woodbine House, 2nd Edition, 1995 Introduction for Parents A book designed to answer most by Cunningham, C. questions new parents have. Brookline Books, 1996 An excellent overview for new parents A Parents Guide to Down Syndrome: and professionals. Toward a Brighter Future by Pueschel, S.M. DYSTONIA Paul H. Brooks Publishing Co., 2nd Edition, 2000 Dystonia Medical Research Foundation Reference book written by a physician 1 East Wacker Drive parent of a child with Down syndrome. Suite 2430 Chicago, IL 60601 Keys to Parenting a Child with Phone: 800-377-3978 or 312-755-0198 Down Syndrome Fax: 312-803-0138 by Brill, M.T. Email: [email protected] Barron’s Educational Series, 1993 www.dystonia-foundation.org

Front cover: The child with Down syndrome Connecticut Chapters: very often can be raised to become inde- Central Connecticut Support Group pendent. This book offers parents and Contact Larry Stahl guardians sound advice on managing 11 Hammick Road healthcare, dealing with siblings, coping West Hartford, CT 06107 with finances, and choosing education, Phone: 860-565-2564 recreation, adult living, and employment Fax: 860-565-1629 options. Available used and in libraries. Email: [email protected]

Teaching the Infant with Down Stratford Support Group Syndrome: A Guide for Parents and Contact Barbara Benowitz Professionals Phone: 203-386-1982 by Hanson, M.J. Pro-Ed, 2nd Edition, 1996 Massachusetts Chapter: Lahey Clinic Support Group A comprehensive curriculum for children Contact: Ann Lebrun with Down syndrome from birth to 24 Phonel: 978-688-2789 months. Includes helpful advice. Email: [email protected] 34 New Hampshire Chapter: Phone: 213-368-3800 New Hampshire Support Group Fax: 213-427-0057 Diane Dinsmoor Email: [email protected] Phone: 603-524-7861 www.ednf.org Email: [email protected] Local support group information is accessible through web site. Vermont Chapter: Vermont Support Group EDS Today Marcia Kenworthy P.O. Box 88814 Phone: 802-223-2526 Seattle, WA 98138 Email: [email protected] Phone: 253-835-1735 Fax: 253-835-1735 ADDITIONAL WEB RESOURCES: Email: [email protected] International Dystonia On-line www.edstoday.org Support Group ADDITIONAL WEB RESOURCES: www.dystonia-support.org Created by affected individuals,this site Ehlers-Danlos Syndrome includes medical information, personal www.orthop.washington.edu/arthri- accounts, chat rooms, information for tis/types/ehlersdanlos/01 parents, and a children’s email club. Web site of the University of Washington Orthopedics and Sports Medicine Group, ADDITIONAL LITERATURE: with information about incidence, risk Holding the Hope: a Parents Guide to factors, causes, symptoms, diagnosis, Living with Dystonia management, treatment, and coping by Ross, K.K. with Ehlers-Danlos syndrome. The Dystonia Foundation, 1996

A guide book for families coping with EPILEPSY dystonia. Addresses the impact a child’s chronic condition may have on the Epilepsy Foundation of America entire family. 4351 Garden City Drive Landover, MD 20785 The Official Patients Sourcebook on Phone: 800-332-1000 or 301-459-3700 Dystonia Disorders: A Revised and Fax: 301-577-2684 Updated Directory for the Internet Age Email: [email protected] by Icon Health Publications www.epilepsyfoundation.org Icon Health, 2002 Created for patients doing their own Connecticut Affiliate: education and research. A reference Epilepsy Foundation CT, Inc. book organized into 3 main parts: 386 Main Street research techniques to find general infor- Middletown, CT 06457 mation, research techniques for Phone: 800-899-3745 or 860-346-1924 specific topics in dystonia, and a guide to Fax: 860-346-1928 the latest scientific research. Email: [email protected] www.epilepsyfoundation.org/ EHLERS-DANLOS SYNDROME connecticut

Ehlers-Danlos National Foundation 3200 Wilshire Boulevard Suite 1601, South Tower Los Angeles, CA 90010 35 Massachusetts and Rhode Island Affiliate: Academy of Neurology and the American Epilepsy Foundation Massachusetts & Epilepsy Society. Rhode Island 540 Gallivan Boulevard, 2nd Floor FAMILIAL DYSAUTONOMIA Boston, MA 02124-5401 Phone: 888-576-9996 or 617-506-6041 Dysautonomia Foundation, Inc. www.epilepsyfoundation.org/massri/ 315 West 39th Street Suite 701 Vermont Affiliate: New York, NY 10018 Epilepsy Foundation Vermont Phone: 212-279-1066 PO Box 6292 Fax: 212-279-2066 Rutland, VT 05702-6292 Email: [email protected] Phone: 800-565-0972 or 802-775-1686 www.familialdysautonomia.org www.epilepsyvt.org National Dysautonomia Research ADDITIONAL WEB RESOURCES: Foundation P.O.Box 301 American Epilepsy Society Red Wing, MN 55066 www.aesnet.org Phone: 651-267-0525 Neurological professional organization Fax: 651-267-0524 seeking to promote interdisciplinary Email: [email protected] communication, scientific investigation www.ndrf.org and exchange of clinical information. ADDITIONAL WEB RESOURCES:

Epilepsy.com Center for Jewish Diseases www.epilepsy.com Mt. Sinai School of Medicine Information on diagnosis, treatment, www.mssm.edu/jewish_genetics living with epilepsy, news and other Follow links to familial dysautonomia. resources. Includes disease description, natural

ADDITIONAL LITERATURE: history, genetics and testing information.

Growing Up with Epilepsy: A Practical Guide For Parents by Blackburn, L.B. Demos Medical Publishing, 2003 Provides advice on discipline, social development, education, medications and side effects, psychological concerns, 2003 marked the 50th and other issues. anniversary of the Handbook of Epilepsy discovery of the structure of by Brown, T.R. and Holmes, G.L. . Lippincott, Williams and Wilkins, DNA 3rd Edition, 2003 Pocket-sized reference book contains concise up-to-date, clinically oriented information on diagnosis and treatment. Includes guidelines and classification of epilepsy syndromes from the American 36

FANCONI ANEMIA FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Fanconi Anemia Research Fund, Inc. 1801 Willamette Street International FOP Association Suite 200 P.O. Box 196217 Eugene, OR 97401 Winter Springs, FL 32719 Phone: 541-687-4658 Phone: 407-365-4194 Fax: 541-687-0548 Fax: 407-365-3213 Email: [email protected] Email: [email protected] www.fanconi.org www.ifopa.org

ADDITIONAL WEB RESOURCES: FRAGILE X SYNDROME

Fanconi Anemia Mutation Database National Fragile X Foundation www.rockefeller.edu/fanconi/mutate/ P.O. Box 190488 San Francisco, CA 94119 Established as a cooperative effort to Phone: 800-688-8765 or 925-938-9300 accelerate the availability of information. Fax: 925-938-9315 Divided into a public section listing muta- Email: [email protected] tions that have already been reported in www.fragileX.org the literature, and a private section with unpublished data. Connecticut Affiliate: FA: Hemotology 101 Fragile X Society of Connecticut www.dceg.cancer.gov/clinicalhema- Contact: Tammy Selinger tology101.html Phone: 860-233-1904 Email: [email protected] Powerpoint slide show on Fanconi Anemia by Dr. Blanche Alter of the Maine Affiliate: National Cancer Institute. Maine Fragile X Resource Group Cheryl Peterson ADDITIONAL LITERATURE: Home Phone: 207-224-2035 Molecular Mechanisms of Fanconi Anemia Julie Gosselin by Ahmad, S. Home Phone: 207-657-2395 Eurekan.com Inc., 2004 Email: [email protected] www.fragilex.org/html/maine.htm Medical textbook. Massachusetts Affiliates: FATT Y ACID OXIDATION DISORDERS Fragile X Resource Group of Western Massachusetts FOD Family Support Group Denise Devine 1559 New Garden Road, 2E Phone: 413-584-1859 Greensboro, NC 27410 Email: [email protected] Phone: 336-547-8682 Fax: call for faxing information FraX'em (FX Resource Group of E. MA) Email: [email protected] Contact: Sandra Morse www.fodsupport.org Phone: 978-927-3669 Email: [email protected] Ihttp://communities.msn.com/ TheWorldofFragileX

37 New Hampshire Affiliate: GALACTOSEMIA New Hampshire Fragile X Resource Group Contact: Debbie White Parents of Galactosemic Children, Inc. Phone: 603-329-4632 1519 Magnolia Bluff Drive Email: [email protected] Gautier, MS 39553 www.fragilex.org/html/new_ Phone: 775-626-0885 hampshire.htm Email: [email protected] www.galactosemia.org Rhode Island Affiliate: Rhode Island Fragile X Resource Group ADDITIONAL WEB RESOURCES: Contact: Robert & Anne McInerney Galactosemia Resources and Phone: 401-467-5135 Information Fax: 401-467-5135 www.galactosemia.com Email: [email protected] Includes general information on galac- FRAXA Research Foundation, Inc. tosemia, galactose content in foods, and 45 Pleasant Street contact information for other affected Newburyport, MA 01950 families. Phone: 978-462-1866 Fax: 978-463-9985 GAUCHER DISEASE Email: [email protected] National Gaucher Foundation, Inc. www.fraxa.org 61 General Early Drive ADDITIONAL LITERATURE: Harpers Ferry, WV 25425 Phone: 800-925-8885 Children with Fragile X Syndrome: Fax: 304-725-6429 A Parents Guide Email: [email protected] by Weber, J.D. www.gaucherdisease.org Woodbine House, 2000

A comprehensive book for parents. Topics Childrens Gaucher Research Fund include diagnosis, parents’ emotions, P.O. Box 2123 daily care, family life, education, and Granite Bay, CA 95746 seeking further help and expertise. Phone: 916-797-3700 Fragile X Syndrome: Fax: 916-797-3707 Diagnosis, Treatment, and Research Email: [email protected] by Hagerman, R.J. and Hagerman, P.J. www.childrensgaucher.org Johns Hopkins University Press, OTHER WEB RESOURCES: 3rd edition, 2002 Textbook discusses clinical approaches to Gaucher Disease Summary www.gaucher.mgh.harvard.edu/ diagnosis, epidemiology, molecular summary.html genetics, neuropsychology, treatment, genetic counseling, pharmacotherapy, A guide for patients, parents, relatives, and gene therapy. and friends provided by the Neurology Service at Massachusetts General Hospital. Includes links to diagnosis, evaluation and treatment summaries, a section on living with Gaucher disease, and questions and answers about therapies.

38 Center for Jewish Diseases Fax: 203-234-1386 Mt. Sinai School of Medicine Email: [email protected] www.mssm.edu/jewish_genetics www.ctalf.org Follow links to Gaucher disease. Includes New England Chapter: disease description, natural history, 88 Winchester Street genetics and testing information. Newton, MA 02461 Phone: 800-298-6766 or 617-527-5600 ADDITIONAL LITERATURE: Email: [email protected] The Official Parents Sourcebook on www.liverfoundation-ne.org Gauchers Disease: A Revised and ROWTH ISORDERS Updated Directory for the Internet G D Age Human Growth Foundation by Parker, P.M. and Parker, J.N. (eds.) 997 Glen Cove Avenue Icon Health, 2002 Glen Head, NY 11545 Informs parents about where and how to Phone: 800-451-6434 or 516-671-4041 look for information. Also useful for Fax: 516-671-4055 doctors, caregivers, and other health Email: [email protected] professionals. www.hgfound.org

GLYCOGEN STORAGE DISEASES MAGIC Foundation for Childrens Growth Association for Glycogen Storage 6645 West North Avenue Disease Oak Park, IL 60302 P.O. Box 896 Phone: 800-362-4432 or 708-383-0808 Durant, IA 52747 Fax: 708-383-0899 Phone: 563-785-6038 Email: [email protected] Fax: 563-785-6038 www.magicfoundation.org Email: [email protected] www.agsdus.org HEART DISORDERS

American Heart Association The Childrens Fund for Glycogen 7272 Greenville Avenue Storage Disease Research Dallas, TX 75231 917 Bethany Mountain Road Phone: 800-242-8721 or 214-373-6300 Cheshire, CT 06416 Fax: 214-373-0268 Phone: 203-272-CURE or 203-272-7744 Email: [email protected] Email: [email protected] www.americanheart.org www.curegsd.org Connecticut Chapter: American Liver Foundation 5 Brookside Drive 75 Maiden Lane P.O. Box 5022 Suite 603 Wallingford, CT 06492 New York, NY 10038 Phone: 203-294-0088 Phone: 800-465-4837 or 212-688-1000 Fax: 203-294-3577 Fax: 212-483-8179 Email: [email protected] Maine Chapter: www.liverfoundation.org 51 US Route 1 Connecticut Chapter: Suite M 127 Washington Avenue Scarborough, ME 04074 North Haven, CT 06473 Phone: 207-879-5700 Fax: 207-879-5918 Phone: 203-234-2022 39 Massachusetts Chapters: Childrens Heart Information 20 Speen Street Network Framingham, MA 01701 1561 Clark Drive Phone: 508-620-1700 Yardley, PA 19067 Fax: 508-620-6157 Phone: 215-493-3068 Fax: 215-493-3068 1111 Elm Street, Suite 9A Email: [email protected] West Springfield, MA 01089 www.tchin.org Phone: 413-827-0400 Fax: 413-827-9390 Little Hearts, Inc. P.O. Box 171 2 White's Path Cromwell, CT 06416 South Yarmouth, MA 02664 Phone: 860-635-0006 or 866-435-4673 Phone: 508-760-6818 Fax: 860-635-0006 Fax: 508-760-6824 Email: [email protected] www.littlehearts.net New Hampshire Chapter: ADDITIONAL WEB RESOURCES: 2 Wall Street Manchester, NH 03101 Texas Heart Institute Phone: 603-669-5833 www.texasheartinstitute.org Fax: 603-669-6745 Information about the heart institute at St. Rhode Island Chapter: Luke’s Episcopal Hospital in Houston, Texas. 222 Richmond Street, Suite 108 Providence, RI 02903 Congenital Heart Disease Center Phone: 401-330-1700 www.heartcenteronline.com Fax: 401-330-1720 Provides patient guides on many congenital heart anomalies, includes animated Vermont Chapter: videos showing how the heart works. 434 Hurricane Lane Williston, VT 05495 ADDITIONAL LITERATURE: Phone: 802-878-7700 Fax: 802-878-7850 Cardiac Kids: A Book for Families Who have a Child with Heart Disease Congenital Heart Anomalies Support, by Elder, V. and King, A. Education, and Research Tenderhearts Publishing Company, 2112 North Wilkins Road 1994 Swanton, OH 43558 For parents and children to read together, Phone: 419-825-5575 this book explains many of the medical Fax: 419-825-2880 tests a child will experience after being Email: [email protected] diagnosed with heart disease. It also www.csun.edu/~hcmth011/chaser/cha touches on some of the stress siblings ser-news.html may feel. Mended Hearts Inc. 7272 Greenville Avenue Heart Defects in Children: Dallas, TX 75231 What Every Parent Should Know Phone: 888-432-7899 or 214-360-6149 by Wild, C.J. Fax: 214-360-6145 Wiley, 1998 Email: [email protected] A resource that succinctly addresses and www.mendedhearts.org provides answers for these complex disorders. Also explains infections, tests, 40 treatments, and risk factors. The Heart of a Child: What Families Phone: 800-465-4837 or 212-688-1000 Need to Know about Heart Disorders Fax: 212-483-8179 in Children Email: [email protected] by Clark, E.B., Clark, C. and Neill, C.A. www.liverfoundation.org Johns Hopkins University Press, 2nd Edition, 2001 Written by two professors in pediatric cardiology, along with pediatric nurse. The authors have included how the heart develops in a child and show what can go wrong during the growing process. They also discuss the risk factors for heart defects, explain how heart problems are recognized, and cover treatment options. 12,000 letters of DNA The Parents Guide to Childrens were decoded by the Human Congenital Heart Defects: What they Genome Project every Are, How to Treat Them, How to Cope with Them second. by Kramer, G.F. and Maurer, S. Three Rivers Press, 2001 Connecticut Chapter: Designed for parents whose child has 127 Washington Avenue been recently diagnosed with a congeni- North Haven, CT 06473 tal heart defect (CHD). The authors Phone: 203-234-6304 knowledgeably discuss both the medical Fax: 203-234-1386 and the emotional issues to be addressed, Email: [email protected] from diagnosis through surgery (if needed) www.ctalf.org to recovery on to adulthood. Includes an illustrated overview of 16 of the most New England Chapter: common defects. 88 Winchester Street Newton, MA 02461 Fetal Echocardiography Phone: 800-298-6766 or 617-527-5600 by Drose, J.A. Email: [email protected] W. B. Saunders Company, 1998 www.liverfoundation-ne.org

An essential reference for anyone ADDITIONAL WEB RESOURCES: involved in fetal echocardiography. Hemochromatosis Information Society HEMOCHROMATOSIS www.hemoinfo.org Information on the condition, its American Hemochromatosis Society treatment, getting an at-home test kit, 4044 West Lake Mary Boulevard and links for further information. Suite 104, PMB 416 Lake Mary, FL 32746 ADDITIONAL LITERATURE: Phone: 888-655-4766 or 407-829-4488 Fax: 407-333-1284 Living with Hemochromatosis Email: [email protected] by Everson, G. and Weinberg, H. www.americanhs.org Hatherleigh Press, 2003

American Liver Foundation Patient guide covers signs, symptoms, 75 Maiden Lane diagnosis, treatment options, and new Suite 603 areas of research, as well as physical, New York, NY 10038 emotional, nutritional and financial issues. 41

The Iron Disorders Institute Guide to Suite 202 Hemochromatosis Framingham, MA 01701 by Garrison, C.D., Phatak, D.D., Phone: 888-872-8102 or 508-872-8102 Weinber, E.D., and Burke, W. Fax: 508-872-8103 Cumberland House Publishing, 2001 Email: [email protected] www.hdsa-ne.org Valuable information on diagnosis, treatment, lifestyle, nutrition and genetics. Hereditary Disease Foundation The Official Patients Sourcebook on (focuses on Huntingtons Disease) Hemochromatosis 1303 Pico Boulevard by Parker, J.N. and Parker, P.M. Santa Monica, CA 90405 Icon Health, 2002 Phone: 310-450-9913 Fax: 310-450-9532 Informs patients, caregivers and health Email: [email protected] professionals about looking for informa- www.hdfoundation.org tion on hemochromatosis. ADDITIONAL WEB RESOURCES: HEMOPHILIA The Huntington s Disease Association National Hemophilia Foundation Online 116 West 32nd Street, 11th floor www.hda.org.uk New York, NY 10001 Offers news and information about Phone: 800-424-2634 or 212-328-3700 Huntington’s disease for people affected, Fax: 212-328-3777 their families, friends, and health care Email: [email protected] professionals. www.hemophilia.org Huntington s Disease Advocacy Center New England Hemophilia Foundation www.hdac.org 347 Washington Street, Suite 402 Dedham, MA 02026 Chat rooms, research updates, and infor- Phone: 781-326-7645 mation on living with Huntington’s dis- Fax: 781-329-5122 ease, managing symptoms, caregiving, Email: [email protected] finances, and nursing homes. www.newenglandhemophilia.org ADDITIONAL LITERATURE: ADDITIONAL WEB RESOURCES: Huntington s Disease: The Facts BloodLine by Quarrell, O. www.bloodline.net Oxford University Press, 1999 Resource for hematology education & news. Pocket guide that offers practical advice, discusses medical facts, genetic aspects HUNTINGTONS DISEASE and counseling, neuropathology, and support organizations. Huntington s Disease Society of America 505 Eighth Avenue, Suite 902 Faces of Huntingtons New York, NY 10018 by Leal-Pock, C. Phone: 800-345-4372 or 212-242-1968 Living Hope Inc., 1998 Fax: 212-239-3430 A unique collection of writings which Email: [email protected] illuminates the many facets of www.hdsa.org Huntington’s Disease. New England Chapter: 1253 Worchester Road 42

Mapping Fate: A Memoir of Family, Listing of resources on hydrocephalus Risk, and Genetic Research compiled by the U.S. National LIbrary of by Wexler, A. Medicine and the National Institutes of University of California Press, 1996 Health.

Personal account of a family dealing with ADDITIONAL LITERATURE: Huntington’s Disease. Hydrocephalus: A Guide for Patients, HYDROCEPHALUS Families and Friends by Toporek, C. Robinson, K. and National Hydrocephalus Foundation Lamb, L. 12413 Centralia Road Patient Center Guide, Inc., 1999 Lakewood, CA 90715 Addresses: selecting a skilled neurosur- Phone: 888-857-3434 or 562-402-3523 geon, treatments, and support. Fax: 562-924-6666 Email: [email protected] Pediatric Hydrocephalus www.nhfonline.org by Cinalli, G., Maixner, W.J. and Sainte-Rose, C. Hydrocephalus Association Springer-Verlag, 2006 870 Market Street, Suite 705 San Francisco, CA 94102 Medical reference text for health care Phone: 888-598-3789 or 415-732-7040 professionals including classification, Fax: 415-732-7044 etiology, pathophysiology, genetics, and Email: [email protected] recent advances. www.hydroassoc.org JEWISH GENETIC DISEASES Guardians of Hydrocephalus Research Foundation 2618 Avenue Z Jewish Genetic Disease Consortium Brooklyn, NY 11235 315 West 39th Street, Suite 701 Phone: 718-743-4473 New York, NY 10018 Fax: 718-743-1171 Phone: 866-370-4363 Email: [email protected] Email: [email protected] www.ghrf.homestead.com/ghrf.html www.jewishgeneticdiseases.org

Hydrocephalus Foundation The Jewish Genetic Disease Consortium 910 Rear Broadway, Route 1 was created as a means by which smaller, Saugus, MA 01906 individual organizations could join together Phone: 781-942-1161 to heighten awareness of Jewish genetic Email: [email protected] diseases. The target audience includes www.hydrocephalus.org medical professionals, rabbis, and the Ashkenazi Jewish population at large. ADDITIONAL WEB RESOURCES: KLINEFELTER SYNDROME The Hydrocephalus Center www.patientcenters.com/ hydrocephalus American Association for Klinefelter Syndrome Information and Support Comprehensive site with links to resources 2945 West Farwell Avenue for families with children with hydrocephalus. Chicago, IL 60645 Phone: 888-466-5747 or 773-761-5298 NIH Hydrocephalus links Fax: 773-761-5298 www.nlm.nih.gov/medlineplus/hydro Email: [email protected] cephalus.html www.aaksis.org 43

Northeast/Boston area Regional Support LESCH-NYHAN SYNDROME Group: Co-chairs of the Support Group Lesch-Nyhan Syndrome Registry Dalene Basden New York University School of Medicine Phone: 781-599-9288 Department of Psychiatry Email: [email protected] New Bellevue 18 18E13 Bellevue Hospital Bill Mulkern New York, NY 10016 Phone: 617-742-4247 Phone: 212-263-6458 Fax: 212-629-9523 Klinefelter Syndrome and Associates Email: [email protected] 11 Keats Court www.lndinfo.org Coto De Caza, CA 92679 Phone: 888-999-9428 Lesch-Nyhan Syndrome Fax: 949-858-3443 Childrens Research Foundation Email: [email protected] 210 South Green Bay Road www.genetic.org Lake Forest, IL 60045 Phone: 847-234-3154 ADDITIONAL WEB RESOURCES: Fax: 847-234-3136 Klinefelter Syndrome Support Group Home Page www.klinefeltersyndrome.org Includes links to prenatal diagnosis information, support group information, research studies, medical conferences, Scientists estimate that humans and other useful web sites. have only 1/3 more ADDITIONAL LITERATURE: genes than the simple Klinefelters Syndrome: A Medical roundworm! Dictionary, Bibliography, and Annotated Research Guide to ADDITIONAL WEB RESOURCES: Internet References by Icon Health Publications National Institute of Neurological Icon Health, 2004 Disorders and Stroke; Lesch-Nyhan Syndrome Information Page Complete medical dictionary, lists of www.ninds.nih.gov/disorders/ bibliographic citations, and information lesch_nyhan/lesch_nyhan.htm on Internet resources. Designed for physicians, medical students, medical Includes a description of Lesch-Nyhan researchers, and patients. syndrome, treatment options, prognosis and information on research. KLIPPEL-TRENAUNAY-WEBER LEUKODYSTROPHY Klippel-Trenaunay Support Group 5404 Dundee Road United Leukodystrophy Foundation Edina, MN 55436 2304 Highland Drive Phone: 952-925-2596 Sycamore, IL 60178 Fax: 612-677-1338 Phone: 800-728-5483 or 815-895-3211 Email: [email protected] Fax: 815-895-2432 www.k-t.org Email: [email protected] www.ulf.org 44 ADDITIONAL LITERATURE: New Hampshire and Vermont Chapter: 21st Century Complete Medical Guide Waterbury, VT to Leukodystrophies: Authoritative Phone: 802-244-5988 Government Documents, Clinical References, and Practical Information ADDITIONAL WEB RESOURCES: for Patients and Physicians by PM Medical Health News Lupus Suite 101 Progressive Management, 2004 www.suite101.com/welcome.cfm/lupus Electronic, thoroughly-researched collection Written by a nurse who is also a lupus patient. on CD-ROM. For patients, practical Provides information, support and help. information is provided in clearly written educational documents. For medical The Lupus Site professionals, reference tools and texts www.uklupus.co.uk have detailed technical information. Information on lupus including symptoms, diagnosis, tests, medications, and email list. LUPUS

ADDITIONAL LITERATURE: American Autoimmune Related Diseases Association, Inc. Coping with Lupus: A Guide to Living 22100 Gratiot Avenue With Lupus for You and Your Family East Detroit, MI 48021 by Phillips, R.H. Phone: 586-776-3900 Avery Publishing Group, 3rd Edition, 2001 Fax: 586-776-3903 Includes new research, treatments, and Email: [email protected] information. www.aarda.org The Lupus Handbook for Women SLE Foundation, Inc. by Dibner, R. 149 Madison Avenue Fireside, 1994 Suite 205 New York, NY 10016 “Must-read” book of common sense advice Phone: 212-685-4118 and tips for daily living, as well as an entire Fax: 212-545-1843 chapter on pregnancy. Email: [email protected] www.lupusny.org MARFAN SYNDROME

Lupus Foundation of America, Inc. National Marfan Foundation 2000 L Street, NW 22 Manhassett Avenue Washington, DC 20036 Port Washington, NY 11050 Phone: 800-558-0121 or 202-349-1155 Phone: 800-862-7326 or 516-883-8712 Fax: 202-349-1156 Fax: 516-883-8040 Email: [email protected] Email: [email protected] or www.lupus.org [email protected] www.marfan.org Connecticut and Rhode Island Chapter: 97 South Street Connecticut Contact: Suite 110 Richard Paul West Hartford, CT 06110 Phone: 203-268-7559 Phone: 800-699-6967 or 860-953-0387 Email: [email protected] Fax: 860-953-0483 Email: [email protected] www.lupusct.org 45

Maine Contact: Connecticut chapters: Merrill Henderson Sarah Seneca Residential Services Phone: 207-839-8637 11 Business Park Drive, Suite 1 Email: [email protected] Branford, CT 06405 Massachusetts Contacts: Phone: 203-315-3770 Suzanne Kouri (Lexington) Email: [email protected] Phone: 781-862-6398 or 781-248-8743(Cell) Farmington Valley ARC, Inc. Email: [email protected] 225 Commerce Drive Sandra La Pan P.O. Box 1099 Phone: 413-739-2950 Canton, CT 06019 Phone: 860-693-6662 Rhode Island Contact: Email: [email protected] Adrienne Shafer www.favarh.org Phone: 401-658-1719 Email: [email protected] Tri-County ARC, CT 65 Route 66 East ADDITIONAL WEB RESOURCES: Columbia, CT 06237 Phone: 860-228-2070 X103 National Institute of Arthritis and Musculoskeletal and Skin diseases WeCAHR www.niams.nih.gov/hi/topics/marfan/ 211 Main Street marfan.htm Danbury, CT 06810 Answers general questions about Marfan Phone: 203-792-3540 syndrome. It describes the characteristics www.wecahr.org of the disorder, the diagnostic process, and ways to manage symptoms. The ARC of Quinebaug Valley 687 Cook Hill Road ADDITIONAL LITERATURE: Danielson, CT 06239 Phone: 860-774-2827 Connective Tissue and Its Heritable Disorders: Molecular, Genetic and The ARC of Greater Enfield Medical Aspects 75 Hazard Avenue by Royce, P.M. and Steinmann, B. Unit E Wiley-Liss, 2nd Edition, 2002 Enfield, CT 06082 Reference text which provides up to date Phone: 860-763-5411 clinical and scientific information for medical specialists treating affected SARAH, Inc. individuals. 246 Goose Lane, Suite 101 Guilford, CT 06437 MENTAL RETARDATION Phone: 203-458-4040 www.sarah-inc.org The ARC (formerly known as The Sarah Tuxis Residential Services, Inc. Association for Retarded Citizens) 45 Boston Street 1010 Wayne Avenue Guilford, CT 06437 Silver Spring, MD 20910 Phone: 203-458-8532 Phone: 800-433-5255 or 301-565-3842 Email: [email protected] Fax: 301-565-5342 www.sarah-tuxis.org Email: [email protected] www.thearc.org

MARC, Inc. of Manchester Marc Community Resources, Ltd. 376R West Middle Turnpike 12 Fairview Street Manchester, CT 06040 P.O. Box 126 Phone: 860-646-5718 Portland, CT 06480 Email: [email protected] Phone: 860-342-0700 www.marcct.org Email: [email protected] www.marcweb.org The ARC of Meriden-Wallingford, Inc. 224-226 Cook Avenue Litchfield County ARC Meriden, CT 06451 314 Main Street Phone: 203-237-9975 Torrington, CT 06790 Email: [email protected] Phone: 860-482-9364 www.mwsinc.org Email: [email protected] www.litchfieldarc.org Directions, Inc. 62 Washington Street Waterbury ARC Middletown, CT 06457 1929 East Main Street Phone: 860-347-5099 Waterbury, CT 06705 Email: [email protected] Phone: 203-575-0707 Email: [email protected] Options Unlimited, Inc. 584 West Hill Road Family Options New Hartford, CT 06057 51 Depot Road Phone: 860-738-1410 Watertown, CT 06795 Email: [email protected] Phone: 860-274-0757

Friends of New Milford, Inc. The ARC of Connecticut 238 Chesnutland Road 1030 New Britain Avenue New Milford, CT 06776 Suite 102 Phone: 860-355-5343 West Hartford, CT 06110 STAR, Inc., Lighting the Way Phone: 860-953-8335 P.O. Box 470 Email: [email protected] Norwalk, CT 06851 www.arcct.com Phone: 203-846-9581 www.starinc-lightingtheway.org Maine Chapters: (listed alphabetically by town) ARC of New London County 125 Sachem Street DEH Operating Co. Norwich, CT 06360 d/b/a Downeast Horizons Phone: 860-889-4435 1200 State Highway 3 Email: [email protected] Bar Harbor, ME 04609 Phone: 207-288-4234 The ARC of Plainville Email: [email protected] 367 New Britain Avenue www.dehi.org Plainville, CT 06062 Phone: 860-747-1560 Independence Association P.O. Box 642 The ARC of Southington, Inc. Brunswick, ME 04011 201 West Main Street Phone: 207-725-4371 Plantsville, CT 06479 Email: [email protected] Phone: 860-628-9220 www.independenceassociation.org Email: [email protected] www.arcsouthington.org 47

Work First, Inc. Massachusetts Chapters (listed P.O. Box 86 alphabetically by town): Farmington, ME 04938 Phone: 207-778-3200 The Arc of Northern Bristol County Community Living Association 141 Park Street 45 School Street Attleboro, MA 02703 Houlton, ME 04730 Phone: 508-226-1445 Phone: 207-532-9446 Email: [email protected] www.cla-maine.org/ www.arcnbc.org/

Green Valley Arc Greater Boston Arc PO Box 127 221 North Beacon Street Island Falls, ME 04747 2nd Floor Phone: 207-463-2156 Brighton, MA 02135 Phone: 617- 783-3900 Katahdin Friends Inc. Email: [email protected] 1024 Central Street, Suite A www.gbarc.org/ Millinocket, ME 04462-2111 Phone: 207-723-9466 Brockton Area Arc www.kfimaine.org 1250 West Chestnut Street Brockton, MA 02301 Central Aroostook Arc Phone: 508-583-8030 26 Lombart Street Email: [email protected] P.O. Box 1245 www.brocktonareaarc.org Presque Isle, ME 04769 Phone: 207-764-0134 Minute Man Arc for Human Services 1269 Main Street Arc - Oxford County Concord, MA 01742 85 Lincoln Avenue Phone: 978-287-7932 Rumford, ME 04276 Email: [email protected] Phone: 207-369-0141 www.minutemanarc.org/

Arc - Waban Projects, Inc. North Shore Arc 5 Dunaway Drive 64 Holten Street Sanford, ME 04073 Danvers, MA 01923 Phone: 207-324-7955 Phone: 978-762-4878 www.nsarc.org Sebasticook Farms Arc P.O. Box 65 The Arc of Greater Fall River St Albans, ME 04971 P.O. Box 1943 Phone: 207-938-4615 Fall River, MA 02722 Phone: 508-679-0001 Arc - Northern Aroostook Email: [email protected] 267 Main Street Van Buren, ME 04785 ARC Community Services Phone: 207-868-5203 564 Main Street Email: [email protected] Fitchburg, MA 01420 Phone: 978-343-6662 Ext 131 Ken-A-Set Arc Email: [email protected] P.O. Box 334 www.arccommunityservices.org Waterville, ME 04903-0334 Phone: 207-872-6484 48 The United Arc of Franklin & Hampshire The Arc of Greater Plymouth, Inc. Counties Cordage Commerce Center 111 Summer Street 10 Cordage Park Circle, Suite 208 Greenfield, MA 01301 Plymouth, MA 02360 Phone: 413-774-5558 Phone: 508-732-9292 Email: [email protected] The Arc of Northern Essex County, Inc. www.thearcofgp.com 57 Wingate Street, Suite 301 Haverhill, MA 01832 East Middlesex Arc Phone: 978-373-0552 20 Gould Street Email: [email protected] Reading, MA 01867-2927 Phone: 781-942-4888 The Arc of Cape Cod www.theemarc.org/ P.O. Box 428 Hyannis, MA 02601 Southern Worcester County Arc Phone: 508-790-3667 P.O. Box 66 Email: [email protected] 100 Foster 1N Street www.arcofcapecod.org Southbridge, MA 01550 Phone: 508-764-4085 The Arc of Greater Lawrence One Parker Street The Arc of Massachusetts Lawrence, MA 01843 217 South Street Phone: 978-975-8587 Waltham, MA 02453-2710 Email: [email protected] Phone: 781-891-6270 www.classinc.org/arc_page.htm Email: [email protected] www.arcmass.org Charles River Arc 59 East Militia Heights Drive Needham, MA 02492-1313 Phone: 781-444-4347 Email: [email protected] www.crarc.org/

The Arc of The South Shore 371 River Street Identical twins do North Weymouth, MA 02191 NOT have identical Phone: 781-335-3023 Email: [email protected] fingerprints. www.arcsouthshore.org

Berkshire County Arc 395 South Street Pittsfield, MA 01201 Greater Waltham ARC Phone: 413-499-4241 56 Chestnut Street Email: [email protected] Waltham, MA 02453 www.bcarc.org/ Phone: 781-899-1344 Email: [email protected] www.gwarc.org

South Norfolk County Arc Rhode Island Arc (RIARC) 789 Clapboardtree Street 99 Bald Hill Road Westwood, MA 02090 Cranston, RI 02920 Phone: 781-762-4001 Phone: 401-463-9191 www.sncarc.org/ Email: [email protected]

Central Middlesex Arc Newport County Arc 147 New Boston Street P.O. Box 4390 Woburn, MA 01801 Middletown, RI 02842 Phone: 781-935-7057 Phone: 401-846-4600

New Hampshire Chapters: (listed Greater Providence Arc alphabetically by town) 220 Woonasquatucket Avenue North Providence, RI 02911 Concord Regional Arc, Inc. Phone: 401-353-7000 P.O. Box 1173 www.fogartycenter.org Concord, NH 03302-1173 Phone: 603-228-8279 The Arc of Blackstone Valley 115 Manton Street The Arc of Greater Manchester Pawtucket, RI 02861 P.O. Box 3363 Phone: 401-727-0150 Manchester, NH 03105-3363 Email: [email protected] Phone: 603-434-2738 www.bvcriarc.org Email: [email protected] www.arcmanchester.org The Arc South County Chapter 238 Robinson Street Salem Arc, Inc. Wakefield, RI 02879 8 Centerville Drive Phone: 401-789-4386 Salem, NH 03079 Phone: 603-893-9889 Kent County Arc 3445 Post Road Rhode Island Chapters: Warwick, RI 02886 (listed alphabetically by town) Phone: 401-739-2700 www.kentcountyarc.org Bristol County Chapter Arc P.O. Box 711 Westerly - Chariho Chapter Bristol, RI 02809 Frank A. Olean Center Phone: 401-253-5900 93 Airport Road Westerly, RI 02891 Arc - Down Syndrome Society of Rhode Phone: 401-596-2091 Island 99 Bald Hill Road The Arc of Northern Rhode Island Cranston, RI 02920 320 Main Street Phone: 401-463-5751 Woonsocket, RI 02895 Email: [email protected] Phone: 401-765-3700 www.dssri.org Email: [email protected] www.arcofnri.org Cranston Arc, Inc. 111 Comstock Parkway Cranston, RI 02921 Phone: 401-941-1112 www.cranstonarc.org 50 American Association on Mental Mitochondria Research Society Retardation P.O. Box 1952 444 North Capitol Street NW Buffalo, NY 14221 Suite 846 Phone: see web site for individual contacts. Washington, DC 20001 Email: [email protected] Phone: 800-424-3688 or 202-387-1968 www.mitoresearch.org Fax: 202-387-2193 Email: [email protected] ADDITIONAL WEB RESOURCES: www.aamr.org Connecticut Contact: Mitochondrial Disease in Perspective: David B. Scott Symptoms, Diagnosis and Hope for Email: [email protected] the Future www.mitoresearch.org/ Maine Contact: treatmentdisease.html Scott Jones Online lecture covering symptoms, diagno- Email: [email protected] sis, management, research and potential treatments. Massachusetts Contact: Jean M. Phelps ADDITIONAL LITERATURE: Email: [email protected] Mitochondrial Disease: Models and New Hampshire Contact: Methods Deborah G. Larochelle by Lestienne, P. Email: [email protected] Springer-Verlag, 1999 Covers molecular aspects of mitochondrial Rhode Island Contact: disorders, diagnosis and mutations; Donna Martin discusses role of mitochondria in apoptosis Email: [email protected] and aging.

Vermont Contact: MOEBIUS SYNDROME Diane Blais Email: [email protected] Moebius Syndrome Foundation P.O. Box 147 MITOCHONDRIAL DISORDERS Pilot Grove, MO 65276 Phone: 660-834-3406 United Mitochondrial Disease Fax: 660-834-3407 Foundation Email: [email protected] or 8085 Saltsburg Road [email protected] Suite 201 www.moebiussyndrome.com Pittsburgh, PA 15239 Phone: 412-793-8077 ADDITIONAL WEB RESOURCES: Fax: 412-793-6477 Email: [email protected] Moebius Syndrome www.umdf.org www.moebius1.org

New England Chapter of UMDF Information, resource links and support. 39 Bay Farm Drive Plymouth, MA 02360 Phone: 508-224-7165 Email: [email protected]

51 ADDITIONAL LITERATURE: Central New England (Massachusetts and New Hampshire) My Face 101A First Avenue, Suite 6 by Abbott, M. and Abbott, B. Waltham, MA 02451-1115 Forward Face, 1998 Phone: 800-493-9255 or 781-890-4990 Children’s book written by the mother Email:[email protected] of an affected child. www.msnewengland.org

MUCOPOLYSACCHARIDOSIS

National MPS Society, Inc. P. O. Box 736 Bangor, ME 04402 Phone: 207-947-1445 Fax: 207-990-3074 Email: [email protected] www.mpssociety.org Most leading causes of death MULTIPLE SCLEROSIS have a genetic component.

National Multiple Sclerosis Society 733 3rd Avenue New York, NY 10017 Phone: 800-344-4867 or 212-986-3240 Fax: 212-986-7981 Rhode Island Chapter: Email: [email protected] 205 Hallene Road, Suite 209 www.nationalmssociety.org Warwick, RI 02886 Phone: 1-800-FIGHT-MS or 401-738-8383 Connecticut Chapters: Email: [email protected] www.nationalmssociety.org/rir Greater Connecticut Chapter 705 North Mountain Road Vermont Chapter: Newington, CT 06111 75 Talcott Road Phone: 860-953-0601 Williston, VT 05495 Email: [email protected] Phone: 1-800-344-4867 or 802-862-0912 www.ctnmss.org Email: [email protected] www.nationalmssociety.org/vtn Western Connecticut Chapter 1 Selleck Street Multiple Sclerosis Association of Suite 500 America Norwalk, CT 06855 706 Haddonfield Road Phone: 203-838-1033 Cherry Hill, NJ 08002 Email: [email protected] Phone: 800-532-7667 www.msswct.org Fax: 856-661-9797 Email: [email protected] Maine Chapter: www.msaa.com 170 US Route One, Suite 200 Falmouth, ME 04105 Rhode Island Contact: Phone: 1-800-FIGHT MS Brenda Berube Email: [email protected] West Warwick, RI www.msmaine.org Phone: 401-823-0216

ADDITIONAL WEB RESOURCES: ADDITIONAL WEB RESOURCES:

All About Multiple Sclerosis Parent Project Muscular Dystrophy www.mult-sclerosis.org www.parentprojectmd.org Accurate and comprehensive medical Founded by parents of children with data about multiple sclerosis written by Duchenne and Becker muscular dystrophies, people living with the disease. Includes this group funds research and disseminates archives of stories and personal accounts. information on research, supports an ADDITIONAL LITERATURE: international conference, and provide a newsletter. Site includes links to informa- Multiple Sclerosis Q & A: Reassuring tion, resources, breaking news, and treat- Answers to Frequently Asked Questions ments, and addresses emotional issues. by Hill, B.A. and Wojcieszek, J. Avery Publishing Group, 2003 ADDITIONAL LITERATURE: This insightful, informative, and empathic Muscular Dystrophy in Children: A resource discusses traditional and com- Guide for Families plementary therapies, explains medical by Siegel, I.M. terminology and diagnosis, and addresses Demos Medical Publishing, 1999 lifestyle issues. A text for families, including information MUSCULAR DYSTROPHY on symptoms, medical treatments, psychosocial issues, probable disease Muscular Dystrophy Association course and therapies. 3300 East Sunrise Drive Tucson, AZ 85718 Muscular Dystrophy: The Facts Phone: 800-572-1717 or 520-529-2000 by Emery, A.E.H. Fax: 520-529-5300 Oxford University Press, 2nd Edition, Email: [email protected] 2000 www.mdausa.org Easy to understand book explains the complexities of muscular dystrophy, Connecticut contact: including daily life issues. Phone: 860-633-4466 Moonrise: One Family, Genetic Maine/New Hampshirecontact: Identity, and Muscular Dystrophy Phone: 207-854-3749 by Wolfson, P. St. Martin’s Press, 2004 Massachusetts contact: Phone: 781-575-1881 Personal account, written by the mother of a son with Duchenne muscular dystrophy. Rhode Island contact: Explores special education, prenatal diag- Phone: 401-732-1910 nosis, and genetics. Used or in libraries. NEUROFIBROMATOSIS Vermont contact (in Albany, NY): Phone: 518-489-5495 The Childrens Tumor Foundation 95 Pine Street, 16th floor Muscular Dystrophy Family Foundation New York, NY 10005 3951 North Meridian Street, Suite 100 Phone: 800-323-7938 or 212-344-6633 Indianapolis, IN 46208 Fax: 212-747-0004 Phone: 800-544-1213 or 317-923-6333 Email: [email protected] Fax: 317-923-6334 www.ctf.org Email: [email protected] www.mdff.org 53

Northern New England Chapter (serves NIEMANN-PICK DISEASE CT, ME, MA, NH, RI, VT) 75 McNeil Way National Niemann-Pick Disease Suite 201 Foundation, Inc. Dedham, MA 02026 P.O. Box 49 Phone: 888-585-5316 or 508-879-5638 401 Madison Avenue, Suite B Fax: 781-326-4940 Fort Atkinson, WI 53538 Email: [email protected] Phone: 877-287-3672 or 920-563-0930 Neurofibromatosis, Inc. Fax: 920-563-0931 P.O. Box 18246 Email: [email protected] Minneapolis, MN 55148 www.nnpdf.org Phone: 800-942-6825 or 301-918-4600 Email: [email protected] ADDITIONAL WEB RESOURCES: www.nfinc.org International Center for Types A and NF Inc. New England B Niemann-Pick Diseases 9 Bedford Street Mt. Sinai School of Medicine Burlington, MA 01803 www.mssm.edu/niemann-pick/ Phone: 781-272-9936 Email: [email protected] Includes information on the disease, its www.nfincne.org natural history, genetics.

DDITIONAL LITERATURE ADDITIONAL WEB RESOURCES: A :

Neurofibromatosis Resources The Official Parents Sourcebook on www.neurosurgery.mgh.harvard.edu/NFR Niemann-Pick Disease: A Revised and Updated Directory for the Listing of neurofibromatosis information Internet Age on the web, including general information, by Parker, J.N. and Parker, P.M., (eds) genetics, support, news groups, home- Icon Health, 2002 pages, and information for children and adolescents. Guide to looking for information online, finding a doctor, and locating the latest research. ADDITIONAL LITERATURE:

Living with A Genetic Disorder: The ORGANIC ACIDEMIAS Impact of Neurofibromatosis I by Ablon, J. Organic Acidemia Association Auburn House, 1999 13210 35th Avenue North Plymouth, MN 55441 A chronicle of the life experiences of Phone: 763-559-1797 adults with Neurofibromatosis I. Fax: 763-694-0017 Email: [email protected] Neurofibromatosis Type I: www.oaanews.org From Genotype to Phenotype by Upadhyaya, M. and Cooper, D.N. OSTEOGENESIS IMPERFECTA Academic Press, 1998 Medical reference text written for students Osteogenesis Imperfecta Foundation, Inc. and professionals. Includes: Clinical aspects; 804 West Diamond Avenue Suite 210 gene structure, expression, and mutation; Gaithersburg, MD 20878 animal models; and disease treatment Phone: 800-981-2663 or 301-947-0083 and prevention. Fax: 301-947-0456 Email: [email protected] www.oif.org 54 Massachusetts contact: Email: [email protected] Cheryl & Richard Manduca Alt. Email: [email protected] Phone: 781-545-2521 www.apdama.org See Massachusetts site for > 15 local contacts. Childrens Brittle Bone Foundation 7701 95th Street New Hampshire Chapter: Pleasant Prairie, WI 53158 P.O. Box 6212 Phone: 866-694-2223 Nashua, NH 03063 Fax: 262-947-0724 George McHugh, President Email: [email protected] Phone: 603-305-0398 or 603-459-8040 www.cbbf.org Email: [email protected]

ADDITONAL WEB RESOURCES: Rhode Island Chapter: The Bones Page P.O. Box 41659 www.geocities.com/dr_plotkin Providence, RI 02940-1659 Athol Cochrane, President Basic information & links to other resources. Phone: 401-823-5700 Email: [email protected] PARKINSONS DISEASE www.parkinsonsdisease-rhodeisland.org

American Parkinson Disease Vermont Chapter: Association Fletcher Allen Health Care 135 Parkinson Avenue 1 South Prospect Street Staten Island, NY 10305 Burlington, VT 05401 Phone: 800-223-2732 or 718-981-8001 Phone: 802-847-3366 or 888-763-3366 Fax: 718-981-4399 Email: [email protected] Email: [email protected] www.parkinsonsvt.org www.apdaparkinson.org See Vermont web site for > 15 local contacts. Parkinsons Disease Foundation, Inc. Connecticut Chapter: 1359 Broadway, Suite 1509 27 Allendale Drive New York, NY 10018 North Haven, CT 06473 Phone: 800-457-6676 or 212-923-4700 Phone: 888-400-2732 or 203-789-3936 Fax: 212-923-4778 Fax: 203-288-0546 Email: [email protected] Email: [email protected] www.pdf.org www.ctapda.com See Connecticut web site for >15 local con- ADDITIONAL WEB RESOURCES: tacts. Parkinsons Information Maine Chapter: www.parkinsonsinfo.com 17 Blueberry Lane, Cottage 21 Information about Parkinson’s disease, a Falmouth, ME 04105 directory of resources, and frequently Carl Barker, President asked questions. Phone: 207-781-3070 Email: [email protected] Michael J. Fox Foundation www.michaeljfox.org Massachusetts Chapter: 715 Albany Street, C329 Dedicated to ensuring the development Boston, MA 02118 of a cure for Parkinson’s disease within Keith Ciccone, President this decade. Phone: 800-651-8466 or 617-638-8466 Fax: 617-638-5354 55 ADDITIONAL LITERATURE: treatment, and management of PKU and allied disorders. 300 Tips for Making Life with Parkinsons Disease Better ADDITIONAL LITERATURE: by Schwarz, S.P. Demos Medical Publishing, 2002 Low Protein Cookery for Phenylketonuria Tips, techniques, and shortcuts learned by Schuett, V.E. from personal experience, arranged in University of Wisconsin Press, 3rd categories of daily activities. Available Edition, 1997 used and in libraries. Provides recipes for American style cook- Parkinsons Disease: A Guide for ing, instructions for calculating nutrient Patient and Family content, and tips on handling special by Duvoisin, R.C. and Sage, J. circumstances such as kid’s parties. Lippincott, Williams & Wilkins, 5th Edition, 2001 PORPHYRIA In depth information on diagnosis, med- American Porphyria Foundation ications, management, and genetics. 4900 Woodway Suite 780 PHENYLKETONURIA Houston, TX 77056 Phone: 713-266-9617 Childrens PKU Network Fax: 713-840-9552 3970 Via de la Valle Email: [email protected] Suite 120 E www.porphyriafoundation.com Del Mar, CA 92014 Phone: 858-509-0767 PRADER-WILLI SYNDROME Fax: 858-509-0768 Email: [email protected] Prader-Willi Syndrome Association www.pkunetwork.org 5700 Midnight Pass Road, Suite 6 Sarasota, FL 34242 ADDITIONAL WEB RESOURCES: Phone: 800-926-4797 or 941-312-0400 National PKU News Fax: 941-312-0142 www.pkunews.org Email: [email protected] www.pwsausa.org News and information about PKU including: personal stories, information for students In Connecticut: writing papers, support information, and Prader-Willi Syndrome Association information on relevant legislation and Connecticut Chapter, Inc. policies. 35 Ansonia Drive North Haven, CT 06473 Low Protein Recipes Phone: 203-239-9902 www.lowprotein.com Email: [email protected] Delicious low protein recipes created by a mother of a child with homocystinuria. Prader-Willi Association of New England New England Region (ME, MA, RI, NH, VT) National Coalition for PKU and Allied Sherie Bombardier Disorders 2 Ernest Street www.pku-allieddisorders.org Webster, MA 01570 Phone: 508-943-1400 Organization composed of individuals, metabolic support groups and professionals seeking to improve the identification, 56 ADDITIONAL WEB RESOURCES: PXE New England Regional Office Gordon & Wendy Wood Hubbard Uniparental Disomy: Prader-Willi 73 Marnoch Drive Syndrome, Angelman Syndrome Seekonk, MA 02771 www.lpch.org/DiseaseHealthInfo/Heal Phone: 508-336-7461 thLibrary/genetics/uniparen.html Email: [email protected] Brief overview provided by the Lucile Packard Children’s Hospital at Stanford. RARE CONDITIONS

ADDITIONAL LITERATURE: Rare Kids, Inc. PO Box 69 Prader-Willi Syndrome: East Walpole, MA 02320 Development and Manifestations Phone: 508-668-2850 by Whittington, J. and Holland, T. Email: [email protected] Cambridge University Press, 2004 www.Rarekids.org Based on the largest cohort of studies on Nonprofit organization established to support Prader Willi syndrome, this book provides children afflicted with rare diseases. Rare information on the condition and its Kids has also supported many charitable management including medical, nutri- organizations which provide support and tional, psychological, educational, social, research for those afflicted with rare diseases and therapeutic issues. including Families of SMA, The A-T Children’s Project, Foundation for Ichthyosis and more. PRUNE BELLY SYNDROME RETINITIS PIGMENTOSA Prune Belly Syndrome Network, Inc. P.O. Box 154 Retinitis Pigmentosa International Beloit, WI 53512 P.O. Box 900 Email: [email protected] Woodland Hills, CA 91365 www.prunebelly.org Phone: 818-992-0500 Fax: 818-992-3265 Email: [email protected] PSEUDOXANTHOMA ELASTICUM www.rpinternational.org National Association for Foundation Fighting Blindness Pseudoxanthoma Elasticum, Inc. 11435 Cronhill Drive 8764 Manchester Road Owings Mills, MD 21117 Suite 200 Phone: 888-394-3937 or 410-568-0150 St. Louis, MO 63144 Fax: 410-363-2393 Phone: 314-962-0100 Email: [email protected] Fax: 314-962-0100 www.blindness.org Email: [email protected] www.pxenape.org Massachusetts - Chapter: PXE, International Lynn E. Donnelly, President 4301 Connecticut Avenue NW, Suite 404 232 Winchester Street # 2 Washington, DC 20008 Brookline, MA 02446-2767 Phone: 202-362-9599 Phone: 617-739-3169 Fax: 202-966-8553 Email: [email protected] Email: [email protected] www.pxe.org Massachusetts – Support Group: Contact: Tina Kurys Email: [email protected] 57

American Council of the Blind, Inc. ADDITIONAL LITERATURE: 1155 15th Street, NW, Suite 1004 Washington, DC 20005 Ordinary Daylight: Portrait of an Phone: 800-424-8666 or 202-467-5081 Artist Going Blind Fax: 202-467-5085 by Potok, A. Email: [email protected] Bantam, 2003 www.acb.org Story of a gifted painter with retinitis pigmentosa who loses his sight. Depressed and Connecticut Council of the Blind: angry, he ultimately discovers it is not the Alice Jackson end of the world; it is the beginning. 191 Centrebrook Road Hamden, CT 06518 Amazing Grace: Autobiography of a Email: [email protected] Survivor members.tripod.com/~dmclean/ccb.html by Halloran, G. North Star Publications, 1993 Maine Chapter: Personal account of a blind mother and her Mel Clarrage, President son, her unconventional therapies, challenges 221 Longfellow Street, Unit 2 and triumphs. Westbrook, ME 04092 Email: [email protected] RETT SYNDROME

Bay State Council of the Blind International Rett Syndrome Jerry Berrier, President Association 108 Bumble Bee Circle 9121 Piscataway Road, 2B Shrewsbury, MA 01545 Clinton, MD 20735 Email: [email protected] Phone: 800-818-7388 or 301-856-3334 www.acb.org/baystate/ Fax: 301-856-3336 Email: [email protected] Vermont Council of the Blind: www.rettsyndrome.org Harriet G. Hall, President 95 Pine Grove Cemetery Road Rett Syndrome Research Foundation Newport, VT 05855 4600 Devitt Drive Email: [email protected] Cincinnati, OH 45246 Phone: 513-874-3020 American Foundation for the Blind Fax: 513-874-2520 11 Penn Plaza, Suite 300 Email: [email protected] New York, NY 10001 www.rsrf.org Phone: 800-232-5463 or 212-502-7600 Fax: 212-502-7777 Connecticut contact: Email: [email protected] Monica Coenraads www.afb.org 67 Under Cliff Road Trumbull, CT 06611 ADDITIONAL WEB RESOURCES: Phone: 203-445-9233 Email: [email protected] Visionchannel www.visionchannel.net/retinitis ADDITIONAL WEB RESOURCES: Includes overview of retinitis pigmentosa including symptoms, risk factors, treatment, The DRM WebWatcher: Rett syndrome and diagnosis. www.disabilityresources.org/RETT.html Links to sites pertaining to Rett syndrome.

ADDITIONAL LITERATURE: ADDITIONAL WEB RESOURCES:

Grief Dancers: A Journey into the Scleroderma From A to Z Depths of the Soul www.sclero.org by Zimmerman, S. Resource available in multiple languages Nemo Press, 1996 with links to medical information, support Mother’s story of raising a daughter with groups, personal accounts, books, message Rett Syndrome. boards, and news.

SCLERODERMA ADDITIONAL LITERATURE: The Scleroderma Book: A Guide for Scleroderma Foundation Patients and Families 300 Rosewood Drive by Mayes, M.D. Suite 105 Oxford University Press, 1999 Danvers, MA 01923 Phone: 800-722-4673 or 978-463-5843 Practical information provided by a Fax: 978-463-5809 leading expert in the field. Email: [email protected] www.scleroderma.org Scleroderma: A New Role for Patients and Families Connecticut Chapter: by Brown, M. Tri-State Chapter (Connecticut, Northern Scleroderma Press, 2nd Edition, 2002 New Jersey, South Central and Eastern Written from the perspective of a patient New York) and family, this is a useful resource for 59 Front Street both medical and non-medical issues. Binghamton, NY 13905 Phone: 800-867-0885 or 607-723-2239 SICKLE CELL ANEMIA FAX: 607-723-2039 Email: [email protected] Sickle Cell Disease Association of America www.scleroderma.org/chapter/tristate/ 165 South Calvert Street, Suite 600 Baltimore, MD 21202 New England Chapter (includes MA, ME, NH, Phone: 800-421-8453 or 410-528-1555 VT, RI): Fax: 410-528-1495 462 Boston Street, Suite 1-1 Email: [email protected] Topsfield, MA 01983 www.sicklecelldisease.org Tom Curran, Executive Director Phone: 978-887-0658 or 888-525-0658 Connecticut Chapters: Email: [email protected] Southern Regional www.scleroderma.org/chapter/ Sickle Cell Association, Inc. newengland/ 177 State Street, 3rd floor Bridgeport, CT 06604 Scleroderma Research Foundation Phone: 888-745-2327 or 203-366-8710 220 Montgomery Street Fax: 203-368-9071 Suite 1411 Email: [email protected] San Francisco, CA 94104 Phone: 800-441-2873 or 415-834-9444 SCDAA- Connecticut Chapter Fax: 415-834-9177 The Urban League Building Email: [email protected] 140 Woodland St., Suite 102 www.srfcure.org/srf/home.htm Hartford, CT 06511 Phone: 800-379-0119 or 860-527-0147 x145 Email: [email protected] www.sicklecellct.org 59 Satellite Offices: In Connecticut: 226 Dixwell Avenue, 2nd Floor State support leader; Isabel Lopez New Haven, CT 06511 Norwalk, CT Phone: 203-498-4051 Phone: 203-846-1031 Fax: 203-498-4054 Email: [email protected] In Massachusetts: Greater Boston Support Group Leader; Citizens for Quality Sickle Cell Care Lynn Epstein, MD P.O. Box 702 Phone: 617-636-3932 (through Dr. Athena 100 Arch Street Papas’ office) New Britain, CT 06050 Phone: 860-223-7222 ADDITIONAL WEB RESOURCES: Email: [email protected] SjS World www.CQSCC.org www.sjsworld.org Massachusetts Chapter: Online community that offers patients and Community Sickle Cell Support Group, Inc. families a place to meet and share expe- 1542 Tremont St. riences, books, and, medical information. Roxbury, MA 02120 Includes and email groups and chat rooms. Phone: 617-427-4100 Fax: 617-262-3190 ADDITIONAL LITERATURE: Email: [email protected] The New Sjogren Syndrome www.cscsginc.org Handbook by Wallace, D.J., Bromet, E.J., and ADDITIONAL WEB RESOURCES: the Sjogren Syndrome Foundation Sickle Cell Information Center, Oxford University Press, 2005 Atlanta, GA www.scinfo.org A comprehensive and authoritative guide that has been extensively revised from Provides both the patient and the profes- their original edition. Designed for people sional with information on news, research with Sjogren syndrome and for physicians, it updates, and world wide sickle cell resources. provides readers with the best medical and practical information available on Information Center for Thalassemia this disorder. Includes information on and Sickle Cell Disease symptoms, diagnosis, and treatment www.sickle.bwh.harvard.edu options and offers tips for daily living. Source of current information on sickle cell, thalassemia, and disorders of iron A Body Out of Balance: Understanding metabolism. Includes overviews of basic and Treating Sjogren Syndrome and clinical research, disease management , by Fremes, R., Carteron, N. and Grayzel, A. and new developments in the field. Avery Publishing Group, 2003 A comprehensive guide that covers all JOGREN S YNDROME S S aspects of living with Sjogren syndrome.

Sjogrens Syndrome Foundation The Sjogren Syndrome Survival Guide 8120 Woodmont Avenue by Rumpf, T.P. and Hammitt, K.M. Suite 530 New Harbinger Publications, 2003 Bethesda, MD 20814 Phone: 800-475-6473 or 301-718-0300 Detailed information on how to cope Fax: 301-718-0322 with this condition. Email: [email protected] www.sjogrens.org 60 SMITH-LEMLI-OPITZ SYNDROME Massachusetts Spina Bifida Association 733 Turnpike Street, #282 Smith-Lemli-Opitz/RSH Syndrome North Andover, MA 01845 Foundation Phone: 888-479-1900 or 617-742-2574 P.O. Box 212 Fax: 978-649-8725 Georgetown, MA 01833 Email: [email protected] Phone: 978-352-5885 www.msbaweb.org Contact: Cynthia Gold Email: [email protected] or ADDITIONAL WEB RESOURCES: [email protected] www.smithlemliopitz.org Children with Spina Bifida: A Resource Page for Parents SOTOS SYNDROME www.waisman.wisc.edu/~rowley/sb- kids/sb-awareness.html Sotos Syndrome Support Association Links to spina bifida organizations, articles, P.O. Box 4626 web sites, online discussion group. Wheaton, IL 60189 Information about related diagnoses, Phone: 888-246-7772 learning issues, family support, tests, Email: [email protected] surgeries and treatments, prenatal www.well.com/user/sssa diagnosis and fetal surgery, and genetics. Email support groups available. ADDITIONAL LITERATURE: ADDITIONAL LITERATURE: Views from Our Shoes: Growing Up Sotos Syndrome: A Handbook for Families with a Brother or Sister with Special by Anderson, R.R. and Buehler, B.A. Needs Sotos Syndrome Support Association by Meyer, D.J. and Pillo, C. Includes description of the condition, Woodbine House, 1997 medical and developmental evaluations, About using a wheelchair. Recommended and glossary. Order through the Sotos by a girl with spina bifida. Syndrome Support Association. Children With Spina Bifida: A SPINA BIFIDA Parents Guide by Lutkenhoff, M. Spina Bifida Association of America Woodbine House, 1999 4950 MacArthur Boulevard NW, Suite 250 Provides parents with information, guidance Washington, DC 20007 and support to help meet their child’s often Phone: 800-621-3141 or 202-944-3285 intensive needs from birth through childhood. Fax: 202-944-3295 Email: [email protected] Spinabilities: A Young Persons Guide www.sbaa.org to Spina Bifida by Lutkenhoff, M. and Oppenheimer, Spina Bifida Association of Connecticut S.G. P.O. Box 2545 Woodbine House, 1997 Hartford, CT 06146 This book helps young people who have Phone: 800-574-6274 or 860-653-1976 spina bifida attain as much control over Fax: 860-345-2600 their own care and achieve as much Email: [email protected] independence as possible. www.sbac.org

TAY-SACHS DISEASE Massachusetts Contact: Rudi Viscomi National Tay-Sachs and Allied Phone: 617-332-5952 Diseases Association ADDITIONAL WEB RESOURCES: 2001 Beacon Street, Suite 204 Brighton, MA 02135 Information Center for Thalassemia Phone: 800-906-8723 and Sickle Cell Disease Fax: 617-277-0134 www.sickle.bwh.harvard.edu Email: [email protected] www.ntsad.org Source of current information on sickle cell, thalassemia, and disorders of iron In Connecticut metabolism. Includes overviews of basic (Serving CT, NJ and NY) and clinical research, disease management, 1202 Lexington Avenue #288 and new developments in the field. New York, NY 10028 Northern California Comprehensive Phone: 888-354-7788 or 212-431-0431 Thalassemia Center Fax: 888-354-4884 www.thalassemia.com Email: [email protected] www.ntsad-ny.org Information for patients, families, health professionals and interested community ADDITIONAL WEB RESOURCES: members to improve the quality of life and survival of thalassemia patients. Center for Jewish Diseases Mt. Sinai School of Medicine ADDITIONAL LITERATURE: www.mssm.edu/jewish_genetics The Thalassemia Syndromes Follow links to Tay-Sachs Disease. Includes by Weatherall, D.J. and Clegg, J,B, disease description and information about Blackwell Publishers, 4th Edition, 2001 natural history, genetics and testing. New edition that summarizes the ADDITIONAL LITERATURE: evidence suggesting that the clinical picture of this disorder may result from Tay-Sachs Disease several different inherited defects of by Desnick, R.J. and Kaback, M.M. globin synthesis. Includes historical Academic Press, 2001 background on the field. Medical reference text written and edited by recognized leaders in the field. TOURETTE SYNDROME

THALASSEMIA Tourette Syndrome Association, Inc. 42-40 Bell Boulevard Bayside, NY 11361 Cooley s Anemia Foundation, Inc. Phone: 800-237-0717 or 718-224-2999 129-09 26th Avenue Fax: 718-279-9596 Suite 203 Email: [email protected] Flushing, NY 11354 www.tsa-usa.org Phone: 800-522-7222 or 718-321-2873 Fax: 718-321-3340 Connecticut Chapter: Email: [email protected] Phone: 203-912-7310 www.cooleysanemia.org Email: [email protected] Connecticut Contact: Maine and New Hampshire Chapter: Peter Chieco Phone: 877-368-9800 Phone: 914-232-1808 Email [email protected] Email: [email protected] 62 www.thezac.com/tourette

Massachusetts Chapter: ADDITIONAL WEB RESOURCES: Phone: 617-277-7589 Email [email protected] Reflections on Treacher Collins www.tsamass.org Syndrome www.treachercollins.org Rhode Island Chapter: Web site written by a pediatric resident Phone: 401-301-9980 with Treacher Collins syndrome. Includes Email: [email protected] many resource links. www.ri.net/tsari TUBEROUS SCLEROSIS For Vermont info. contact National TSA. Tuberous Sclerosis Alliance ADDITIONAL WEB RESOURCES: 801 Roeder Road Suite 750 Tourette-Syndrome.com Silver Spring, MD 20910 www.tourette-syndrome.com Phone: 800-225-6872 or 301-562-9890 Comprehensive online community devoted to Fax: 301-562-9870 children and adults with Tourette syndrome. Email: [email protected] www.tsalliance.org ADDITIONAL LITERATURE: Contact main office for support contacts in Connecticut, Massachusetts, New Tourette Syndrome: Hampshire, and Rhode Island. Finding Answers and Getting Help by Waltz, M. ADDITIONAL WEB RESOURCES: Patient Center Guides, 2001 A support guide offering help to families The Cardiff-Rotterdam Tuberous living and dealing with Tourette syndrome. Sclerosis Mutation Database www.archive.uwcm.ac.uk/uwcm/mg/tsc_db Icy Sparks Contains published mutations and poly- by Rubio, G.H. morphisms in the TSC2 gene. Penguin Books, 2001 This book is about a young girl who has ADDITIONAL LITERATURE: Tourette, but doesn’t know it. She grows Tuberous Sclerosis Complex: From up in the back hills of Kentucky, and no Basic Science to Clinical Phenotypes one knows what to make of her. by Curatolo, P., editor MacKeith Press, 2003 TREACHER COLLINS SYNDROME Discusess correlation between new Treacher Collins Connection genetic and basic science data and the P.O. Box 156 clinical presentation. Boston, MA 02131 Contact Person: Judy (located in North TURNER SYNDROME Carolina) Phone: 704-545-1921 Turner Syndrome Society of the United Email: [email protected] or States [email protected] 14450 TC Jester www.tcconnection.org Suite 260 Houston, TX 77014 Phone: 800-365-9944 or 832-249-9988 Fax: 832-249-9987 Email: [email protected] www.turner-syndrome-us.org 63

In Connecticut: VELO-CARDIO-FACIAL SYNDROME Connecticut Turner Syndrome Society Contact Sandra Gittleman Velo-Cardio-Facial Syndrome 57 Cianci Drive Educational Foundation, Inc. Southington, CT 06489 P.O. Box 874 Phone: 860-628-8729 Milltown, NJ 08850 Email: [email protected] Phone: 866-823-7335 or 732-238-8803 Fax: 315-464-6593 Massachusetts and Southern New Email: [email protected] England Turner Syndrome Society www.vcfsef.org Contact: Beth Wheeler Contact main office for local chapters. 1034 Maple Street Mansfield, MA 02048 Northeast VCFS Support Group Phone: 508-339-3022 Contact Maureen Anderson Email: [email protected] 2 Lansing Drive Salem, NH 03079 Northern New England Turner Society Phone: 603-898-6332 (serving New Hampshire, Maine and Email: [email protected] Vermont) Contact: Lori-Ann Pawlowski VON HIPPEL-LINDAU SYNDROME 38 Beaman Street VHL Family Alliance Laconia, New Hampshire 03246 171 Clinton Road Phone: 603-524-6011 Brookline, MA 02445 Email: [email protected] Phone: 800-767-4845 or 617-277-5667 Fax: 858-712-8712 Rhode Island Chapter: Email: [email protected] Contact: Debbie Pomerantz www.vhl.org 24 Turner St. Unit 3 Warwick, Rhode Island 02886 In Connecticut: Phone: 401-732-2136 Email: [email protected] Email: [email protected] In Maine: UREA CYCLE DISORDERS Email: [email protected]

National Urea Cycle Disorders Foundation In Massachusetts: 4841 Hill Street Email: [email protected] La Canada, CA 91011 Phone: 800-386-8233/818-790-2460 In New Hampshire, Rhode Island and Fax: 818-952-2184 Vermont: Email: [email protected] Email: [email protected] www.nucdf.org WILLIAMS SYNDROME ADDITIONAL WEB RESOURCES: Williams Syndrome Association Urea Cycle Disorders P.O. Box 297 www.meadjohnson.com/metabolics/ Clawson, MI 48017 ureacycle.html Phone: 800-806-1871 or 248-244-229 Detailed overview of the conditions and Fax: 248-244-2230 therapies. Email: [email protected] www.williams-syndrome.org

64 Connecticut contact: ADDITIONAL WEB RESOURCES: Holly Weston 495 Route 87 Wilsons Disease Resources and Columbia, CT 06237 Information Phone: 2860-228-1020 www.acsu.buffalo.edu/~drstall/ Email: [email protected] wilsons.html Web site written by physician who has ADDITIONAL WEB RESOURCES: Wilson’s disease. The Williams Syndrome LOW COPPER DIET FOR WILSON S DISEASE Comprehensive Web Site www.gicare.com/pated/edtgs17.htm www.wsf.org Gastroenterologist’s web site with Includes medical and general information detailed nutritional information for on behavioral issues and research. Wilson’s disease patients.

ADDITIONAL LITERATURE: ADDITIONAL LITERATURE:

Understanding Williams Syndrome: Wilsons Disease: A Clinicians Guide A Guide to Behavioral Patterns and to Recognition, Diagnosis, and Interventions Management By Semel, E. and Rosner, S.R. by Brewer, G.J. Lawrence Erlbaum Associates, Inc., 2003 Kluwer Academic Publishers, 2001 Includes basic information on the disorder A guide for the physician with informa- including neurogenetic implications, chal- tion about symptoms, diagnosis and lenges and interventions. treatment options for patients with Journey from Cognition to Brain to Wilson’s disease. Gene: Perspectives from Williams Wilsons Disease for the Patient and Syndrome Family: A Patients Guide to Wilsons by Bellugi, U. and St. George, M.I. Disease and Frequently Asked MIT Press, 2001 Questions about Copper Presents the work of a team of scientists by Brewer, G.J. linking genes with human behavior. George J. Brewer, MD through Xlibris Publishing Services Provider, 2001 WILSONS DISEASE A guide for individuals with Wilson’s Wilsons Disease Association disease. Helpful advice about diagnosis, International treatment and quality of life issues. 1802 Brookside Drive Wooster, OH 44691 Phone: 800-399-0266 or 330-264-1450 Fax: 509-757-6418 Email: [email protected] www.wilsonsdisease.org

Connecticut contact: Lenore and Russell Sillery 152 Cheese Spring Road Wilton, CT 06897 Phone: 203-762-2372 or 203-961-9993 Fax: 203-961-9993 Email: [email protected] 65 66 IV. COMMON GENETIC TERMS ALLELE: order to express observable phenotype; Variant forms of the same gene. specifically refers to genes on one of Different alleles produce variations in the 22 pairs of non-sex chromosomes. inherited characteristics such as eye color or blood type. AUTOSOMAL RECESSIVE: Describes a trait or disorder requiring ALLELIC HETEROGENEITY: the presence of two copies of a gene A single disorder, trait, or pattern of mutation at a particular locus in order traits caused by different mutations to express observable phenotype; within a gene. specifically refers to genes on one of the 22 pairs of non-sex chromosomes. ALLELIC VARIANT: An alteration in the normal sequence BACKGROUND RISK: of a gene, the significance of which The proportion of individuals in the may be unclear. Complete gene general population who are affected sequencing often identifies numerous with a particular disorder or who allelic variants (sometimes hundreds) carry a certain gene; often discussed for a given gene. in the genetic counseling process as a comparison to the patient's personal AMINO ACID: risk given his or her family history or Any of a class of 20 molecules that are other circumstances. combined to form proteins in living things. The sequence of amino acids in BAND LEVEL: a protein, and therefore protein function, Terminology used in reference to cyto- is determined by the genetic code. genetic analysis. Refers to the total number of stripes, or bands, elicited ANEUPLOIDY: on each chromosome with staining The occurrence of one or more extra techniques. Band level is the total or missing chromosomes leading to an number of bands estimated to be unbalanced chromosome complement. present in a haplotype set (23) of chromosomes. When analysis is per- ANTICIPATION: formed at an early stage of mitosis The tendency in certain genetic (prometaphase), chromosomes appear disorders for individuals in successive longer, with approximately 700-1200 generations to present at an earlier bands. At a later stage of mitosis age and/or with more severe manifes- (metaphase), chromosomes are more tations; often observed in disorders condensed, with approximately 300- resulting from the expression of a 600 bands. At higher band levels, the trinucleotide repeat mutation that greater resolution increases the ability tends to increase in size and have a to identify more subtle chromosomal more significant effect when passed abnormalities and their breakpoints. from one generation to the next. BASE PAIR: AUTOSOMAL: In DNA, two complementary, nitrogen- Any of the chromosomes other than the rich molecules held together by weak sex-determining chromosomes (X and Y) chemical bonds. Two strands of DNA or the genes on these chromosomes. are held together in the shape of a double helix by the bonds between AUTOSOMAL DOMINANT: their base pairs. Describes a trait or disorder requiring the presence of only one copy of a gene mutation at a particular locus in 68

CARRIER: amino acid or signals the termination An individual who has a recessive, of translation (stop or termination disease-causing allele at a particular codon). locus on one chromosome of a pair and a normal allele at that locus on COMPOUND HETEROZYGOTE: the other chromosome. Carriers are An individual who has two different usually asymptomatic. abnormal alleles at a particular locus, one on each chromosome of a pair; CARRIER DETECTION OR CARRIER usually refers to individuals affected TESTING: with an autosomal recessive disorder. Testing used to identify usually asymptomatic individuals who have a gene CONGENITAL: mutation for an autosomal recessive or Present from birth, not necessarily X-linked recessive disorder. genetic.

CARRIER FREQUENCY: CONSULTAND: The proportion of individuals in a The individual (not necessarily affected) population who have inherited a who presents for genetic counseling single copy of a specific recessive and through whom a family with an gene mutation. inherited disorder comes to medical attention. CELL CYCLE: The complete series of events from CROSS OVER (MEIOSIS): one cell division to the next. A specialized cell division in which a single diploid cell undergoes two CENTROMERE: nuclear divisions following a single The constricted portion of the chromo- round of DNA replication in order to some at which the chromatids are produce four daughter cells, each with joined and to which the spindle half the number of chromosomes as attaches during mitosis and meiosis. the original diploid cell. Meiosis occurs during the formation of gametes from CHROMOSOME: diploid organisms and at the beginning Structure found in the nucleus of a of haplophase in those organisms that cell, which contains the genes. alternate between diploid and haploid Chromosomes come in pairs, and a generations. normal human cell contains 46 chromosomes (23 pairs). CROSSING OVER: The exchange of a segment of DNA CODING REGION: between two homologous chromo- Sequence of DNA consisting of a series somes during meiosis leading to a of nucleotide bases (code) giving rise novel combination of genetic material to the mature messenger RNA that in the offspring. will be translated into the specific amino acids of the protein product. CYTOGENETICS: The study of the structure, function, and CODOMINANCE: abnormalities of human chromosomes. Situation in which two different alleles for a genetic trait are both expressed. DE NOVO GENE MUTATION: Alteration in a gene present for the first CODON: time in one family member as a result In DNA or RNA, a sequence of three of a mutation in the egg or sperm cell nucleotides that codes for a certain leading to that person’s conception. 69 DELETION: future testing; done when a specific Absence of a segment of DNA; may be test is not presently available or when as small as a single base or large the decision to have testing has not enough to encompass one or more been made. entire genes. Large deletions involving a whole segment of a chromosome DOUBLE HETEROZYGOTE: may be detected by routine examina- An individual who has two different tion of the chromosomes; intermediate gene mutations at two separate deletions involving a few genes may genetic loci. be detected by using fluorescent in situ hybridization (FISH); smaller dele- EMBRYO: tions involving a portion of a gene may An animal in the early prenatal stages only be detected through DNA analysis. of growth and differentiation, specifically refers to the developing human DEOXYRIBONUCLEIC ACID: during the first trimester of pregnancy. DNA. The molecules inside cells that make up the genes, that carry genetic EUPLOID: information from one generation to Any chromosome number that is a the next. multiple of the haploid number.

DERIVATIVE CHROMOSOME: EXON: Term used to denote an abnormal The protein-coding DNA sequence of a chromosome consisting of segments gene. Each exon codes for a specific from two or more chromosomes portion of the complete protein. In joined together as the result of a some species (including humans), a translocation, insertion, or other gene's exons are separated by long rearrangement. regions of DNA (called introns) that have no apparent function. DIPLOID: The normal number of chromosomes FALSE PATERNITY: in a somatic cell; in humans, 46 chro- The situation in which the alleged mosomes (22 pairs of autosomes plus father of a particular individual is not two sex chromosomes). the biological father.

DIRECT DNA ANALYSIS: FALSE POSITIVE: Molecular genetic testing used to A test result which indicates that an detect a genetic alteration associated individual is affected and/or has a with a specific disorder; direct DNA certain gene mutation when he or she analysis is possible only when the is actually unaffected and/or does not gene, genes, or genomic region have the mutation; i.e., a positive test associated with a disorder is known. result in a truly unaffected individual.

DISEASE CAUSING MUTATION: FAMILIAL: A gene alteration that causes or Describes a trait that is observed with predisposes an individual to a specific higher frequency within the same disease. family, whether the etiology is genetic or environmental, or a combination of DNA BANKING: the two. The process through which DNA is extracted from any of a number of possible cell sources and stored indefi- nitely by freezing or refrigerating for 70 FAMILY HISTORY: ova (eggs) and spermatogenesis to The genetic relationships and medical the production of sperm. history of a family; when represented in diagram form using standardized GENE: symbols and terminology, usually The functional and physical unit of referred to as a pedigree. A record of heredity passed from parent to off- a person's current and past illnesses, spring. Genes are pieces of DNA, and and those of his or her parents, broth- most genes contain the information ers, sisters, children, and other family for making a specific protein. members. A family history shows the pattern of certain diseases in a family, GENE EXPRESSION: and helps to determine risk factors for The detectable effect of a gene. those and other diseases. GENE PRODUCT: FERTILITY: Genes are transcribed into segments The capacity to conceive or to induce of RNA (ribonucleic acid), which are conception. May refer to either the translated into proteins. Both RNA male or female. and proteins are products of the expression of the gene. FETUS: An animal in the early prenatal stages GENE THERAPY: of growth and differentiation; specifi- Treatment of a genetic disorder cally refers to the developing human usually by the insertion of genetically during the second and third trimesters altered genes into cells especially to of pregnancy. replace defective genes or to provide a specialized disease fighting function FIBROBLAST: (as the destruction of tumor cells). A connective tissue cell that makes and secretes collagen proteins. GENETIC PREDISPOSITION: Increased susceptibility to a particular FIRST- DEGREE RELATIVE: disease due to the presence of one or Parent, sibling, or offspring of an indi- more gene mutations, and/or a combi- vidual. A relative that shares one half nation of alleles (haplotype), not of the person’s genes. necessarily abnormal, that is associated with an increased risk for the disease. FLANKING MARKER: Also refers to a family history that An identifiable, polymorphic region of suggests an increased risk for the disease. DNA located to the side of a gene, but not within the gene itself. Used in GENETIC TESTING: linkage analysis to track the coinheri- Analysis of DNA to look for a genetic tance of the gene in question. alteration.

FLUORESCENT IN SITU GENOMICS: HYBRIDIZATION: (FISH) The study of the sequence, structure, A cytogenetic technique used to iden- and function of the genome. The com- tify the presence of specific chromo- plete DNA sequence in an individual somes or chromosomal regions. or species.

GAMETOGENESIS: GENOTYPE: The meiotic process by which mature The genetic constitution of an organ- eggs and sperm are formed. Oogenesis ism or cell; also refers to the specific refers specifically to the production of set of alleles inherited at a locus. 71 GENOTYPE- PHENOTYPE CORRELATION: maternally and paternally derived The association between the presence chromosomes are uniquely chemically of a certain mutation or mutations modified leading to different expres- (genotype) and the resulting physical sion of a certain gene or genes on trait, (phenotype). those chromosomes depending on their parental origin. GERMLINE: The cell line from which egg or sperm INFERTILITY: cells (gametes) are derived. Incapable of or unsuccessful in achiev- ing pregnancy over a considerable GERMLINE MOSAICISM: period of time (as a year) in spite of Two or more genetic or cytogenetic determined attempts. cell lines confined to the precursor cells of the egg or sperm; also called INHERITANCE PATTERN: gonadal mosaicism. The manner in which a particular genetic trait or disorder is passed GERMLINE MUTATION: from one generation to the next. The presence of an altered gene with- Autosomal dominant, autosomal in the egg or sperm (germ cell) such recessive, X-linked dominant, X-linked that the altered gene can be passed to recessive, multifactorial, and mito- subsequent generations. chondrial inheritance are examples.

HAPLOID: INSERTION: Half the diploid or normal number of A chromosome abnormality in which chromosomes in a somatic cell; the material from one chromosome is number of chromosomes in a gamete inserted into another chromosome; or (egg or sperm) cell, which in humans a mutation in which a segment of is 23. DNA is inserted into a gene or other segment of DNA, potentially disrupting HETEROZYGOTE: the coding sequence. With respect to a particular trait or condition, an individual who has INTRAFAMILIAL VARIABILITY: inherited two different alleles, usually Variation in clinical presentation of a one normal and the other abnormal, particular disorder among affected at a particular locus. individuals within the same family.

HOMOLOGOUS CHROMOSOMES: INTRON: A pair of particular chromosomes, nor- Non-coding sequence of DNA removed mally one inherited from the mother from mature messenger RNA prior to and one from the father, containing translation, leaving only the exons to the same genetic loci in the same order. ultimately encode the amino acid product.

HOMOZYGOTE: INVERSION: With respect to a particular trait or A chromosomal rearrangement in which condition, an individual who has a segment of genetic material is broken inherited identical alleles at a away from the chromosome, inverted particular locus. from end to end, and re-inserted into the chromosome at the same breakage IMPRINTING: site. These may be balanced, with no A phenomenon in which the disease loss or gain of genetic material, or phenotype depends on which parent unbalanced, with missing or extra passed on the disease gene. This is genetic material. 72 determined by the process by which KARYOTYPE: MARKER: A photographic representation of the An identifiable segment of DNA with chromosomes of a single cell, enough variation between individuals arranged in pairs based on their that its inheritance and co-inheritance banding pattern and size according to with alleles of a given gene can be a standard classification. traced; used in linkage analysis.

KINDRED: MARKER CHROMOSOME: An extended family; term often used A small chromosome, usually contain- in linkage studies to refer to large ing a centromere, occasionally seen in families. tissue culture, often in a mosaic state. A marker chromosome may be of little LINKAGE ANALYSIS: clinical significance or may create an Indirect DNA analysis. The use of sev- imbalance for whatever genes are eral DNA sequence polymorphisms present. Clinical significance, particu- (normal variants) that are near or larly if found in a fetal karyotype, is within a gene of interest to track the often difficult to assess. inheritance of a disease-causing mutation in that gene within a family. MATERNAL CONTAMINATION: The situation in which a fetal sample LINKAGE DISEQUILIBRIUM: becomes contaminated with maternal In a population, co-occurrence of a cells, which can confound interpreta- specific DNA marker and a tion of the results of genetic analysis. disease at a higher frequency than would be predicted by chance alone. MEIOSIS: Specialized cell division in which a LOCUS: single diploid cell undergoes two The physical site or location of a nuclear divisions following a single specific gene on a chromosome. round of DNA replication in order to produce four daughter cells, each LOCUS HETEROGENEITY: containing half the number of chro- A single disorder, trait, or pattern of mosomes as the original diploid cell. traits caused by mutations in genes Meiosis occurs during the formation at different chromosomal loci. of gametes from diploid organisms.

LYONIZATION: MESSENGER RNA: In females, the phenomenon in which RNA that serves as a template for one X chromosome (either maternally protein synthesis. or paternally derived) is randomly inactivated in early embryonic cells, MICRODELETION SYNDROME: with fixed inactivation in all descen- A syndrome caused by a chromoso- dant cells; first described by the mal deletion spanning several genes geneticist Mary Lyon. that is too small to be detected under the microscope using conventional MAPPED GENE: cytogenetic techniques. Other meth- A gene or phenotype whose relative ods of DNA analysis can sometimes position on a segment of DNA or on be employed to identify the deletion. a chromosome has been established.

73 MITOCHONDRIAL INHERITANCE: NUCLEOTIDE: Mitochondria, cytoplasmic organelles A molecule consisting of a nitroge- that produce the energy source ATP nous base (adenine, guanine, thymine, for most chemical reactions in the or cytosine in DNA; adenine, guanine, body, contain their own distinct uracil, or cytosine in RNA), a phos- genome; mutations in mitochondrial phate group, and a sugar (deoxyribose genes are responsible for several in DNA; ribose in RNA). DNA and RNA recognized syndromes and are always are polymers of many nucleotides. maternally inherited. OBLIGATE CARRIER OR OBLIGATE MONOSOMY: HETEROZYGOTE: The presence of only one chromosome An individual who may be clinically from a pair; partial monosomy refers unaffected but who must carry a gene to the presence of only one copy of a mutation based on analysis of the segment of a chromosome. family history; usually applies to disorders inherited in an autosomal MOSAICISM: recessive or X-linked recessive manner. The post-fertilization occurrence of two or more cell lines with different ONCOGENE: genetic or chromosomal constitutions A gene that normally directs cell within a single individual or tissue. growth. If altered, an oncogene can promote or allow the uncontrolled MULTIFACTORIAL INHERITANCE: growth of cancer. Alterations can be The combined contribution of one or inherited or caused by an environmental more often unspecified genes and exposure to carcinogens. environmental factors, in the causa- tion of a particular trait or disease. ONCOSUPPRESSOR GENE: Also called a tumor suppressor gene. MUTATION: Genes in the body that can suppress Any alteration in a gene from its natural or block the development of cancer. state; may be disease causing or a benign, normal variant. PARACENTRIC INVERSION: A chromosomal inversion in which the NEW MUTATION: breakpoints are confined to one arm An alteration in a gene that is present of a chromosome; the inverted seg- for the first time in one family member ment does not span the centromere. as a result of a mutation in a germ cell (egg or sperm) of one of the parents or PARENTAGE TESTING: in the fertilized egg itself. The process through which DNA sequences from a particular child and NON- DISJUNCTION: a particular adult are compared to The failure of homologous chromo- estimate the likelihood that the two somes or chromatids to segregate individuals are related; DNA testing during mitosis or meiosis, with the can reliably exclude but cannot result that one daughter cell has both absolutely confirm an individual as a of a pair of parental chromosomes or biological parent. chromatids, and the other has none. PEDIGREE: NONSENSE MUTATION: A diagram of the genetic relationships A single base pair substitution that and medical history of a family using prematurely codes for a stop in amino standardized symbols and terminology. acid translation (stop codon). 74

PENETRANCE: POLYMORPHISM: The proportion of individuals with a A natural variation in a gene, DNA mutation causing a particular disorder sequence, or chromosome that has no who exhibit clinical symptoms of that adverse effect and occurs with fairly high disorder; a condition is said to have frequency in the general population. complete penetrance if clinical symptoms are present in all individuals POLYPLOIDY: who have the disease-causing mutation, An increase in the number of haploid and to have reduced or incomplete pen- sets (23) of chromosomes in a cell. etrance if clinical symptoms are not Triploidy refers to three whole sets of always present in individuals who chromosomes in a single cell (in humans, have the disease-causing mutation. a total of 69 chromosomes per cell); tetraploidy refers to four whole sets PERICENTRIC INVERSION: of chromosomes in a single cell (in A chromosomal inversion in which the humans, a total of 92 chromosomes breakpoints occur on both arms of a per cell). chromosome and therefore the inverted segment spans the centromere. PREIMPLANTATION DIAGNOSIS: A procedure used to genetically test PHENOTYPE: one cell removed from early embryos The observable physical and/or biochemical conceived by in vitro fertilization. characteristics of the expression of a gene; Typically performed to identify specific the clinical presentation of an individual genetic abnormalities, before transfer- with a particular genotype. ring to the mother's uterus only those embryos determined not to have PLEIOTROPY: inherited the abnormality in question. Multiple, often seemingly unrelated, physical effects caused by a single PREMUTATION: altered gene or pair of altered genes. In disorders caused by trinucleotide repeat expansions, an abnormally POINT MUTATION: large allele that is not associated with An alteration in DNA sequence caused clinical symptoms but that can expand by a single nucleotide base change, into a full mutation when transmitted insertion, or deletion. to offspring (full mutations are associated with clinical symptoms of the disorder). POLYGENIC: Genetic condition resulting from the PRENATAL DIAGNOSIS: combined action of alleles of more Testing performed during pregnancy than one gene (e.g. heart disease, to determine if a fetus is affected diabetes, and some cancers). with a particular disorder. Chorionic Although such disorders are at least villus sampling (CVS), amniocentesis, partly inherited, they depend on the periumbilical blood sampling (PUBS), simultaneous presence of several ultrasound, and fetoscopy are exam- alleles; thus the hereditary patterns ples of procedures used either to usually are more complex than those obtain a sample for testing or to eval- of single-gene disorders. uate fetal anatomy.

POLYMERASE CHAIN REACTION (PCR): A method of creating copies of specific fragments of DNA. PCR rapidly amplifies a single DNA molecule into many billions of molecules. 75 PRESYMPTOMATIC TESTING: REFLEX TESTING: Testing of an asymptomatic individual Follow-up testing automatically in whom the identification of a gene initiated when certain test results are mutation indicates the development observed in the laboratory; used to of a specific condition at some future clarify or elaborate on primary test point in time. A negative result results. excludes the diagnosis. RESTRICTION FRAGMENT LENGTH PRIVATE MUTATION: POLYMORPHISM (RFLP) ANALYSIS: A distinct gene alteration observed in Fragment of DNA of predictable size a single family. resulting from cutting of a strand of DNA by a given restriction enzyme. PROBAND: DNA sequence mutations that destroy The affected individual through whom or create the sites at which a restriction a family with a genetic disorder is enzyme cuts DNA change the size and ascertained; may or may not be the number of DNA fragments resulting consultand (the individual presenting from digestion by a given restriction for genetic counseling). enzyme.

REARRANGEMENT: RING CHROMOSOME: A structural alteration in a chromo- Abnormal chromosomes in a circular some, usually involving breakage and configuration. reattachment of a segment of chromosome material, and resulting in an RISK ASSESSMENT: abnormal configuration which may be Calculation of an individual's chance balanced or unbalanced. Examples of having inherited a certain gene include inversion and translocation. mutation, of developing a particular disorder, or of having a child with a RECESSIVE: certain disorder based upon analysis A gene which will be expressed only if of multiple factors including genetic there are 2 copies or, for a male, if one test results, family medical history, copy is present on the X chromosome. and/or ethnic background.

RECIPROCAL TRANSLOCATION: ROBERTSONIAN TRANSLOCATION: A chromosomal rearrangement in The joining of two acrocentric chromo- which a segment of one chromosome is somes at the centromeres with loss of exchanged with a segment of another their short arms to form a single chromosome of a different pair. abnormal chromosome; acrocentric chromosomes are the Y chromosomes RECOMBINATION: and the acrocentric chromosomes 13, The exchange of a segment of DNA 14, 15, 21, and 22. between two homologous chromosomes during meiosis leading to a SCREENING: novel combination of genetic material Testing designed to identify individuals in the offspring. in a given population who are at higher risk of having or developing a particular RECURRENCE RISK: disorder, or carrying a gene for a par- The likelihood that a trait or disorder ticular disorder. present in one family member will occur again in other family members.

76 SECOND- DEGREE RELATIVE: TELOMERE: A relative with whom one quarter of The segment at the end of each chromo- an individual's genes are shared (i.e., some which has a specialized structure grandparent, grandchild, uncle, aunt, and is involved in chromosomal repli- nephew, niece, half-sibling). cation and stability.

SEGREGATION: TRANSCRIPT: The separation of the homologous A sequence of RNA produced by tran- chromosomes and their random scription from a DNA template. distribution to the gametes at meiosis. TRANSCRIPTION FACTOR: A protein that binds to regulatory SENSITIVITY: regions and helps control gene The frequency with which a test yields expression. a positive result when the gene muta- TRANSFER RNA: tion in question is actually present in Small RNA molecules that bond with the individual being tested. amino acids and transfer them to the ribosomes, where proteins are assem- SOMATIC MUTATION: bled according to the genetic code Alterations in DNA that occur after carried by messenger RNA. conception. Somatic mutations can occur in any of the cells of the body TRANSLATION: except the germ cells (sperm and egg) The process of forming a protein mol- and therefore are not passed on to ecule at a ribosomal site of protein children. synthesis from information contained in messenger RNA. SPECIFICITY: The frequency with which a test yields TRANSLOCATION: a negative result when the gene A chromosome alteration in which a mutation in question is not present in whole chromosome or segment of a the individual being tested. chromosome becomes attached to or interchanged with another whole SPORADIC: chromosome or segment. These may Denoting either a genetic disorder be balanced, with no loss or gain of that occurs for the first time in a family genetic material, or unbalanced, with due to a new mutation or the chance extra or missing genetic material. occurrence of a disorder or abnormality that is not likely to recur in a family. TRINUCLEOTIDE REPEAT: Sequences of three nucleotides STEM CELLS: repeated in tandem on the same Relatively undifferentiated cells from chromosome a number of times. A which other types of cells can develop. normal, polymorphic variation in repeat number with no clinical signifi- SUBSTITUTION: cance commonly occurs between indi- A type of mutation due to replace- viduals; however, repeat numbers ment of one nucleotide in a DNA over a certain threshold can, in some sequence by another nucleotide or cases, lead to adverse effects on the replacement of one amino acid in a function of the gene, resulting in protein by another amino acid. genetic disease.

77 TRISOMY: X-LINKED LETHAL: The presence of a single extra A disorder caused by a dominant chromosome, yielding a total of three mutation in a gene on the X chromo- chromosomes of that particular type some that is observed almost exclu- instead of a pair. Partial trisomy refers sively in females because it is almost to the presence of an extra copy of a always lethal in males. segment of a chromosome. X-LINKED RECESSIVE: TRISOMY RESCUE: A mode of inheritance in which a The phenomenon in which a fertilized mutation in a gene on the X chromo- ovum initially contains 47 chromosomes some causes the phenotype to be but loses one of the trisomic chromo- expressed in males who are hemizy- somes in the process of cell division gous for the gene mutation or in such that the resulting daughter cells females who are homozygous for the and their descendants contain the gene mutation. Carrier females, who normal number of chromosomes. have only one copy of the mutation, do not usually express the phenotype, UNIPARENTAL DISOMY (UPD): although differences in X-chromosome The situation in which both members inactivation can lead to varying of a chromosome pair, or segments of degrees of clinical expression. a chromosome pair, are inherited from one parent and neither is inherited ZYGOSITY TESTING: from the other parent. Uniparental The process through which DNA disomy can result in an abnormal sequences are compared to assess phenotype in some cases. whether individuals born from a multiple gestation (twins, triplets, UPD TESTING: etc.) are monozygotic (identical) or Testing used to identify whether dizygotic (fraternal); often used to specific chromosomes are maternally identify a suitable donor for organ or paternally derived; can aid in transplantation or to estimate disease confirming the clinical diagnosis of susceptibility risk if one sibling is certain disorders for which UPD is a affected. possible underlying etiology.

VARIABLE EXPRESSION: Variation in clinical features (type and SOURCES: severity) of a genetic disorder between individuals with the same Genetics Home Reference — Your Guide to gene alteration, even within the Understanding Genetic Conditions same family. A service of the U.S. National Library of Medicine Available at www.ghr.nlm.nih.gov. Accessed X-LINKED DOMINANT: September 2004. Describes a dominant trait or disorder caused by a mutation in a gene on the GeneTests: Medical Genetics Information X chromosome. Resource (database online) Educational materials: Glossary. Copyright, University of Washington, Seattle. 1993-2004. Updated weekly. Available at http://www.genetests.org. Accessed September 2004.

Prepared by the CT Department of Public Health 78 V. GENETIC SERVICES:CONNECTICUT

BRIDGEPORT HOSPITAL YALE UNIVERSITY SCHOOL OF MEDICINE 267 Grant Street Yale Department of Pediatric Bridgeport, CT 06610 Endocrinology www.bridgeporthospital.com 3103, LMP P.O. Box 208064 Maternal Fetal Medicine/Genetics New Haven, CT 06520-8064 Phone: 203-384-3049 or 203-384-4724 Phone: 203-764-9199 Fax: 203-384-3574 Fax: 203-764-9149 An outreach site of Yale University CT NEWBORN SCREENING DESIGNATED School of Medicine SICKLE CELL REGIONAL CONNECTICUT DEPARTMENT OF TREATMENT CENTERS PUBLIC HEALTH CT CHILDREN’S MEDICAL CENTER NEWBORN SCREENING PROGRAM Comprehensive Hemoglobin 410 Capitol Avenue Disorders Treatment Center P.O. Box 340308 282 Washington Street Hartford, CT 06134-0308 Hartford, CT 06106 Phone: 860-509-8081 Phone: 860-545-9630 Fax: 860-509-7720 Fax: 860-545-9622 www.dph.state.ct.us YALE SICKLE CELL SERVICE Commissioner: J. Robert Galvin, MD, MPH Yale University School of Medicine Deputy Commissioner: Norma Gyle, RN, PhD 333 Cedar Street Connecticut state law mandates that all LMP 4089 newborns delivered in Connecticut be P.O. Box 208064 screened for selected genetic and meta- New Haven, CT 06520 bolic disorders. The Newborn Screening Phone: 203-785-6662 Program consists of three components: Fax: 860-737-2461 testing, tracking, and treatment. The aim of this program is to screen all babies GREENWICH HOSPITAL prior to hospital discharge or within the 5 Perryridge Road first 4 days of life. The goal is early Greenwich, CT 06830 identification of infants at increased risk Phone: 203-863-3000 for disorders so that medical treatment www.greenhosp.org can be promptly initiated to prevent Perinatal Genetic Counseling irreversible problems ordeath. Phone: 203-863-3917 (CT Newborn Screening Designated Fax: 203-863-3467 Genetic Treatment Centers will be NORWALK HOSPITAL indicated by ** in listings.) Maple Street CT NEWBORN SCREENING DESIGNATED Norwalk, CT 06856 ENDOCRINOLOGY REGIONAL www.norwalkhosp.org TREATMENT CENTERS Perinatology Phone: 203-852-3354 CONNECTICUT CHILDREN’S MEDICAL CENTER Fax: 203-852-3610 Pediatric Endocrinology Department 282 Washington Street STAMFORD HOSPITAL Hartford, CT 06106 30 Shelburne Road Phone: 860-545-9370 Stamford, CT 06904 Fax: 860-545-9371 www.stamhealth.org

80 Maternal Fetal Medicine OTHER COLLABORATIVE PROGRAMS Phone: 203-325-7060 Hemophilia Fax: 203-325-7908 Huntington Disease Neurogenetics Program UNIVERSITY OF CONNECTICUT Neuromuscular Disorders HEALTH CENTER Newborn Cystic Fibrosis Screening Program DIVISION OF HUMAN GENETICS UConn Health Partners EDUCATION 65 Kane Street, First Floor Certified residency in medical genetics; West Hartford, CT 06106 clinical electives/rotations for medical stu- Phone: 860-523-6464 dents, residents, genetic counseling stu- Administrative Phone: 860-523-6499 dents, and graduate fellows; undergradu- Fax: 860-523-6465 ate, graduate and continuing education. www.uchc.edu/genetics PRENATAL GENETICS PROGRAM GENERAL GENETICS CONSULTATION SERVICE ** Provides information about the inheritance Provides: up-to-date information about of genetic conditions, the cause for various the heritability and cause of genetic birth defects, and the tests available to disorders, such as birth defects, mental detect whether an individual or couple is retardation and late onset adult diseases; at risk have a child with such a condition. evaluation, diagnosis and management Offers tests to determine whether a preg- of persons with genetic disorders; infor- nancy may be affected by a birth defect or mation about the recurrence risk to genetic condition. families with a genetic disorder; and supportive counseling to patients and their families.

HEREDITARY CANCER PROGRAM A referral/consultation service, which evaluates families with multiple members with cancer, to assess the likelihood for hereditary cancer. Genetic testing is offered to families with appropriate histories. Patients also seen at:

MIDDLESEX HOSPITAL 28 Crescent Street Middletown, CT 06457 www.midhosp.org

GAUCHER DISEASE CENTER Established through the National Gaucher Foundation (www.gaucherdisease.org), to work with patients and doctors in diagnosis, management and treatment of Gaucher Disease.

GENETIC INBORN ERRORS OF METABOLISM SERVICE Provides diagnostic evaluation of metabolic disorders that are detected by the Connecticut State Newborn Screening Program or by other evaluations. 81

Patients also seen at: transplant, pharmacological therapy, and multidisciplinary management. Middlesex Hospital 28 Crescent Street Patients also seen at: Middletown, CT 06457 www.midhosp.org Bridgeport Hospital 267 Grant Street OCCUPATIONAL AND ENVIRONMENTAL Bridgeport, CT 06610 REPRODUCTIVE HAZARDS CLINIC Phone: 203-384-3049 UConn Health Center www.bridgeporthospital.com Dowling North Building, 3rd floor Farmington, CT 06032 Danbury Hospital Phone: 800-325-5391 or 860-523-6419 24 Hospital Avenue www.oehc.uchc.edu/clinser/reprohaz.htm Danbury, CT 06810 Phone: 203-797-7124 LABORATORY SERVICES www.danhosp.org Human Genetics Laboratories UConn Health Center GENETIC INBORN ERRORS OF 263 Farmington Avenue METABOLISM SERVICE Butler Building #5 Diagnosis, management and clinical care for Farmington, CT 06030-6140 patients with inborn errors of amino acid, Phone: 860-679-2469 organic acid, fatty acid metabolism and Fax: 860-679-3616 mitochondrial disorders. Newborn screening follow-up and assessment with rapid labora- CONNECTICUT PREGNANCY EXPOSURE tory assessment and collaborative manage- INFORMATION SERVICE ment with primary care physicians. Lysosomal Phone: 800-325-5391 or 860-523-6419 storage disorders diagnosis and manage- Fax: 860-523-6465 ment. Molecular genetic testing with wwwdocdb.uchc.edu/genetics/ assessment of family members at risk. PregnancyExposure.htm EDUCATION A state-funded program that provides Certified residency in medical genetics, information on all types of exposures clinical electives/rotations for medical during pregnancy for Connecticut resi- students, residents, genetic counseling dents or women with Connecticut physi- students, and graduate fellows; under- cians. This service is a member of The graduate, graduate and continuing Organization of Teratology Information education. Laboratory training in clinical Services. Located in West Hartford. molecular genetics, clinical biochemical genetics, and clinical cytogenetics. YALE UNIVERSITY SCHOOL OF MEDICINE PRENATAL SERVICE DEPARTMENT OF GENETICS Appointment Phone: 203-785-5682 333 Cedar Street Administrative & Consult line: 203-785-2661 New Haven, CT 06520 Fax: 203-785-7673 Phone: 203-785-2660 Fax: 203-785-3404 Provides a full array of prenatal genetic www.info.med.yale.edu/genetics testing services.

GENETIC CONSULTATION SERVICE ** Patients also seen at: Diagnosis, management and genetic counseling for a broad range of heredi- Lawrence and Memorial Hospital tary and genetic-influenced conditions. 365 Montauk Avenue Ongoing treatment including nutritional New London, CT 06320 82 treatment, bone marrow and stem cell www.lmhospital.org Waterbury Hospital LABORATORY SERVICES 64 Robbins Street Biochemical Disease Detection Laboratory Waterbury, CT 06721 Yale University School of Medicine www.waterburyhospital.org Department of Genetics 333 Cedar Street OTHER COLLABORATIVE PROGRAMS: WWW 313 P.O. Box 208005 Craniofacial Genetics New Haven, CT 06520 Phone: 203-737-2049 Phone: 203-785-2662 Fax: 203-785-5714 FAX: 203-785-3535 Huntington Disease http://info.med.yale.edu/genetics/ Phone: 203-785-2661 BDD/index.php Fax: 203-785-7673 Studies include amino acid analysis, total homocysteine, organic acid analysis Neurofibromatosis Program (GC/MS), carnitine and acylcarnitine profiles Phone: 203-785-2660 (electrospray tandem MS), screening for Fax: 203-785-3404 fatty acid oxidation disorders (urine Neurogenetics Clinic acylglycine profile) and others. Phone: 203-785-4085 or 203-401-4300 Fax: 203-785-5694

CANCER GENETIC COUNSELING PROGRAM Yale Cancer Center 55 Church Street Suite 402 New Haven, CT 06510 Phone: 203-764-8400 Fax: 203-764-8401 www.yalecancercenter.org/genetics/

Patients also seen at:

Praxair Cancer Center CYTOGENETICS (INCLUDING MOLECULAR Danbury Hospital CYTOGENETICS) 24 Hospital Avenue http://info.med.yale.edu/genetics/ Danbury, CT 06810 cytogenetics/cytogenetics.php www.danhosp.org Laboratory Director: 203-785-6317 Bendheim Cancer Center Administrative Assistant: 203-785-2146 Greenwich Hospital Prenatal laboratory: 203-785-5140 77 Lafayette Place Bone Marrow and Blood laboratory: Greenwich, CT 06830 203-785-2656 www.greenhosp.org Research Cytogenetics: 203-785-6523

Whittingham Cancer Center DNA DIAGNOSTICS LABORATORY Norwalk Hospital Phone: 203-785-5745 Maple Street Fax: 203-785-7227 Norwalk, CT 06856 Testing for fragile X syndrome, Duchenne www.norwalkhosp.org and Becker muscular dystrophies, Gorlin syndrome, Hemophilia A, MCAD , multiple endocrine neoplasia, and OTC. 83 84 VI. GENETIC SERVICES:MAINE MAINE GENETICS PROGRAM (MGP) Inborn Errors of Metabolism

Ellie Mulcahy, RNC, Director Spina Bifida Division of Family Health 11 State House Station Cystic Fibrosis Augusta, ME 04333-0011 Phone: 207-287-5357 or 1-800-698-3624 Cleft Lip and Palate Fax: 207-287-4743 Hemophilia The Maine Genetics Program (MGP) is a statewide program that provides grants Muscular Dystrophy to agencies to assure the availability of comprehensive genetic services for the The Genetics Program also provides citizens of Maine. Services include risk Medical Genetics consultations and assessment, laboratory and clinical diag- prenatal and preconception counseling nosis, counseling, case management and for area physicians and women’s health referral, and education and training to programs, including the Maternal Fetal providers and consumers. The MGP also Medicine Program at EMMC, as well as coordinates the Newborn Bloodspot and Developmental Evaluation Clinics. Newborn Hearing Screening Programs. The Newborn Bloodspot Screening All clients are seen regardless of ability to Program screens all newborns for 28 pay for services. conditions, which if left untreated, would In addition to clinical services, the cause mental retardation, other serious Genetics Program offers education and health problems or death. The Newborn training to health professionals and Hearing Screening Program tests all new- other groups throughout the state. borns for possible hearing loss. Both the Newborn Bloodspot Screening Program CANCERCARE OF MAINE and the Newborn Hearing Screening 417 State Street, Suite 20 Program make referrals for treatment Bangor, ME 04401-6600 and comprehensive follow-up care. Phone: 207- 973-7476 or 1-800-987-3005 EASTERN MAINE MEDICAL The Cancer Risk Counseling Clinic CENTER GENETICS PROGRAMS provides assessment for individuals and PEDIATRIC SPECIALTY CLINICS families at risk for a variety of hereditary 417 State Street cancer syndromes. Genetic testing Webber East Suite 305 options, screening and preventative Bangor, ME 04401 strategies are reviewed. An oncologist is Appointment Phone: 207-973-7559 available for consultation. or 1-877-366-3662 x7559 Administrative Phone: 207-973-7553 MAINE MEDICAL CENTER, THE or 1-877-366-3662 x7553 DIVISION OF GENETICS AT THE http://emmc.org/Patient+Services/Child BARBARA BUSH CHILDREN S +and+Adolescent+Care+Center/ HOSPITAL default.htm MAINE PEDIATRIC SPECIALTY GROUP AND The Genetics Program provides consulta- ENDOCRINOLOGY tion and management services through a 887 Congress Street, Suite 320 number of specialty clinics at EMMC. The Portland, ME 04102 Program provides initial genetic evaluation, Phone: 207-662-5522 or 1-800-860-6277 assessment and ongoing management. In Fax: 207-662-5528 addition to the general Genetics Clinic, http://www.mmc.org/mmc_bush/clini- the Genetics Program coordinates specialty cal_services_prog_genetics.htm 86 clinics for the following conditions: The Division of Genetics at the Barbara possible hereditary cancer susceptibility Bush Children’s Hospital provides Genetics disorders (HCSDs). The genetic counselor services for individuals from primarily explains genetics, inheritance, genetic southern Maine and New Hampshire. syndrome differentials, available testing, Consultative and management services possible testing outcomes, and research include dysmorphology evaluations, ongo- possibilities. A visit continues with the ing management of complex medical care physician who provides a personalized for individuals with known diagnoses; risk assessment. While direct patient care family risk assessment; provision of genetic is the main focus, the Cancer Genetics testing,; genetic counseling; evaluation, Program also provides essential services diagnosis and management of inborn and education to primary care physicians errors of metabolism; enzyme replace- and other subspecialists at MMC, as well ment therapy services for lysosomal stor- as throughout the states of Maine and age diseases; and prenatal consultations New Hampshire. in complex cases. The Division of Genetics also provides essential education to primary care physicians and other subspecialists at MMC, as well as throughout the states of Maine and New Hampshire. The Division is also responsible for the Barbara Bush Children’s Hospital Metabolism Program and provides support for the Southern Maine Cleft Lip and Palate Program, the Cystic Fibrosis Clinic, the Hemophilia Clinic, the Maine Children’s Cancer Program and the Spina Bifida Program. Medical Genetics consultations are also provided to the Division of Maternal Fetal Medicine at MMC and the Genetics staff at the Maine Center for Cancer Medicine. OTHER RELATED SERVICES WITH A GENETIC COMPONENT All clients are seen regardless of ability to pay for services. CHILDREN WITH SPECIAL HEALTH CARE NEEDS PROGRAM, (CSHN) MAINE MEDICAL CENTER, DIVISION Toni Wall, MPA, Director OF THE CANCER GENETICS PROGRAM Division of Family Health CANCER RISK AND PREVENTION CLINIC 11 State House Station AT MAINE MEDICAL CENTER Augusta, Maine 04333 100 US Route 1 Phone 207-287-5139 or 1-800-698-3624. Scarborough, ME 04074 http://www.maine.gov/dhhs/boh/cshn Phone: 207-885-7787 Fax: 207-885-8500 The Children with Special Health Needs http://www.mmc.org/mmc_services/m Program (CSHN) serves children who have ainecenterforcancermedicine.htm a serious physical condition(s) that requires extensive health and related services. The Cancer Risk and Prevention Clinic provides a family history evaluation and Chronic physical conditions that are genetic risk assessment for individuals covered by the CSHN Program include, and families primarily in Southern Maine but are not limited to, the following: and New Hampshire. A visit includes a asthma and other respiratory disorders, review of an individual’s personal and/or blood disorders, cardiac disorders, child- family history of cancer in order to evaluate hood cancer, chronic ear infections, cleft 87 lip and/or cleft palate, other craniofacial THE FOUNDATION FOR BLOOD anomalies, cystic fibrosis, developmental RESEARCH delays, diabetes and other endocrine Division of Genetics disorders, gastrointestinal disorders, 8 Nonesuch Road genitourinary disorders, juvenile arthritis, Scarborough, Maine 04074 orthopedic disorders, PKU and other Phone: 207-883-4131 inborn errors of metabolism, seizure Fax: 207-885-0807 disorders, skin disorders, spina bifida, and www.fbr.org/genetics/genetics.html vision disorders. The Division of Genetics at the The Program pays for diagnosis and med- Foundation for Blood Research (FBR) ical care for children who meet the med- focuses on the integration of genetics ical and income guidelines. into public health and private healthcare systems in Maine. Immediately available In addition, the Program supports and/or to primary and allied healthcare person- administers the following clinics: nel are CME/CEU lectures and presenta- Developmental Evaluation Clinics are tions offered either in person or via available at Cary Medical Center, Eastern interactive TV (telemedicine), as well as Maine Medical Center, MaineGeneral publications. Medical Center in Waterville, and The The molecular diagnostic laboratory is Child Health Center in Auburn. involved in research to test the feasibility of DNA-based population screening pro- Maine Cleft Lip and Palate Clinic is sup- tocols for genetic disorders such as cystic ported and administered by CSHN Program fibrosis and hereditary hemochromatosis. in two regional sites: Bangor and Portland.

PREGNANCY ENVIRONMENTAL MAINE MEDICAL CENTER, HOTLINE: HEMOPHILIA TREATMENT CENTER Phone: 781-466-8474 or 800-322-5041 (in MA) Maine Children’s Cancer Program (also serves MA, NH and RI) 100 U.S. Route One Scarborough, ME 04074 Phone: 207-885-7565 Fax: 207-885-7577 Maine Medical Center provides comprehensive clinical services to individuals with hemophilia and other coagulation disorders. Genetic counseling services and coordination of DNA analysis for carrier testing and prenatal diagnosis are arranged when indicated.

88 VII. GENETIC SERVICES:MASSACHUSETTS MASSACUSETTS DEPARTMENT OF BETH ISRAEL DEACONESS HOSPITAL PUBLIC HEALTH 330 Brookline Avenue Office of Genomics and Health Boston, MA 02115 250 Washington Street, 4th floor Boston, MA 02108 Clinical Genetics Program Phone: 617-624-5070 Phone: 617-667-7110 Fax: 617-667-1551 The Massachusetts Genetics Program Services: Prenatal diagnosis (MGP) is based within the Office on Health and Disability of the Massachusetts Cancer Risk Assessment Program Department of Public Health. The MGP Phone: 617-667-1905 aims to inform consumers and profes- Fax: 617-667-1551 sionals about medical and scientific developments in human genetics and BOSTON UNIVERSITY MEDICAL associated ethical, legal and social issues CENTER that affect infants, children, adolescents 715 Albany Street and adults. The MGP strives to ensure W-4th Floor that all individuals have access to cultur- Boston, MA 02118 ally and linguistically appropriate, family- (Mailing address) centered genetics services. THE CENTER FOR HUMAN GENETICS BAYSTATE MEDICAL CENTER 700 Albany Street 759 Chestnut Street Building CABR, Suite 408 Springfield, MA 01199 Boston, MA 02118 (Clinical Site) CLINICAL AND REPRODUCTIVE GENETICS Phone: 617-638-7083 Department of Obstetrics and Gynecology Fax: 617-638-7092 Administrative Phone: 413-794-8890 Services: Prenatal, pediatric, adult genetics; Appointment Phone: 413-794-2222 cytogenetic, biochemical, maternal serum Fax: 413-794-1666 screening, and molecular testing Services: Prenatal, Pediatric, Adult, http://www.bumc.bu.edu/hg Cancer Genetics BOSTON COMPREHENSIVE SICKLE CELL The Genetics program at Baystate Medical CENTER Center offers comprehensive clinical 820 Harrison Ave., FGH 2nd Floor genetics care, laboratory services and Boston, MA 02118 education for patients and healthcare Phone: 617-414-5727 professionals. Fax: 617-414-5739 The clinical program includes services Services: Testing, counseling for sickle cell across the lifespan including prenatal and anemia and other hemoglobinopathies, preconception assessment, pediatric and education, research adult evaluations, and cancer risk assessment consultations. CENTER OF EXCELLENCE IN SICKLE CELL DISEASE Genetic laboratory services at Baystate 88 East Newton Street Medical Center include cytogenetics, Evans 248 maternal serum screening, and molecular Boston, MA 02118 diagnostics. Phone: 617-414-1020 Fax: 617-414-1021 www.bu.edu/sicklecell

Services: Research studies involving sickle cell anemia and other hemoglobinopathies 90 Exeter Hospital Millbrook Office Park 118 Portsmouth Avenue, Suite 102 Stratham, NH 03885 Phone: 603-777-5002 Fax: 603-778-9290

CHILDREN S HOSPITAL BOSTON 300 Longwood Avenue Boston, MA 02115

CLINICAL GENETICS AND METABOLISM Phone: 617-355-6394 or 617-355-4695 Fax: 617-730-0466 http://www.childrenshospital.org

The Division of Genetics at Children's Hospital Boston offers state-of-the-art diagnostic and clinical management for children, adolescents, and adults with BRIGHAM & WOMEN S HOSPITAL genetic conditions, including inborn 75 Francis Street errors of metabolism. Patients are evaluated Boston, MA 02115 by a multi-disciplinary team of physicians, CENTER FOR FETAL MEDICINE AND nurses and counselors who specialize in PRENATAL GENETICS genetics, syndrome identification, metabolic Phone: 617-732-4208 disease, and birth defects. Fax: 617-264-6310 http://www.brighamandwomens.org/ OUTREACH SITES: mfm/center4fetalgeneticshome.asp South Shore Hospital The center focuses on the diagnosis and 851 Main Street treatment of fetal disease with a compre- Weymouth, MA 02190 hensive genetic counseling service, a fetal Phone: 781-331-4715 treatment program, and expansion of Fax: 781-335-5628 pre-implantation genetic diagnosis. Lexington Medical Center OUTREACH CLINICS: 482 Bedford Street Lexington, MA 02420 Newton Wellesley Hospital Phone: 781-672-2100 Maternal Fetal Medicine Fax: 781-672-2145 2014 Washington Street Newton, MA 02462 OTHER SERVICES: Phone: 617-243-5909 Fax: 617-243-5775 Cardiovascular Genetics Phone: 617-355-2079 Women’s Health Center Fax: 617-739-3784 One Hutchinson Drive Services: Evaluation for cardiac birth defects Danvers, MA 01923 and inherited cardiac malformations Phone: 978-739-6900 Fax: 978-774-9635

91 DANA-FARBER CANCER PARTNERS CENTER FOR HUMAN GENETICS INSTITUTE AND GENOMICS 44 Binney Street Administrative Office: Boston, MA 02115 Simches Research Center Room 2222 CANCER RISK AND PREVENTION 185 Cambridge Street Phone: 617- 632-2178 Boston, MA 02114 Fax: 617-632-6811 www.dana-farber.org/pat/cancer/ Clinical Office: Yawkey Center for Outpatient Care A team of specialists combines the latest 6th Floor 6C medical and scientific knowledge with 55 Fruit Street the most advanced surveillance, diagnostic, Boston, MA 02114 and prevention methods. Provides thor- Phone: 617-726-1561 ough evaluation and risk assessment, Fax: 617-726-1566 including genetic testing for cancer sus- Services: Pediatric and adult genetics ceptibility, and educates patients about cancer risk and its implications for them- DEVELOPMENTAL NEUROGENETICS selves and family members. Administrative Office: CRP Building North HARVARD VANGUARD MEDICAL 5th Floor Suite 5240 ASSOCIATES 185 Cambridge Street 133 Brookline Avenue Boston, MA 02114 Boston, MA 02215 Clinical Office: GENETICS DEPARTMENT Yawkey Center for Outpatient Care Phone: 617-421-3320 6th Floor 6B Fax: 617-421-2989 55 Fruit Street www.harvardvanguard.org Boston, MA 02114 Services: Prenatal, Pediatric, Adult and Phone: 617-726-5732 Cancer Genetics Fax: 617-724-9620 Services: Evaluation and testing for neuro- MASSACHUSETTS GENERAL HOSPITAL genetic disorders, including Fabry disease, Warren 801 Gaucher disease and mitochondrial disorders 55 Fruit Street Boston, MA 02114-2696 NATIONAL BIRTH DEFECTS CENTER www.hpcgg.org/LMM/ 40 Second Avenue, Suite 520 Waltham, MA 02451 GENETICS & TERATOLOGY UNIT Phone: 781-466-9555 Phone: 617-726-1742 Fax: 781-487-2361 Fax: 617-724-1911 www.thegenesisfund.org Services: pediatric, prenatal counseling, Services: Diagnostic evaluation and test- adult genetics ing, prenatal counseling CENTER FOR CANCER RISK ANALYSIS PREGNANCY ENVIRONMENTAL HOTLINE: 55 Fruit Street Phone: 781-466-8474 or 800-322-5041 (in MA) Boston, MA 02114 (also serves ME, NH and RI) Phone: 617-724-1971 Fax: 617-726-9418

92 NEW ENGLAND MEDICAL CENTER MetroWest Medical Center 750 Washington Street Maternal-Fetal Medicine Department Boston, MA 02111 115 Lincoln Street Framingham, MA 01702 Phone: 508-383-1436 CLINICAL GENETICS & METABOLISM Fax: 508-383-1497 SERVICES AT FLOATING HOSPITAL FOR CHILDREN Melrose/Wakefield Office Phone: 617-636-5462 Maternal-Fetal Medicine Department, Fax: 617-636-0745 Perinatal Diagnosis www.tufts-nemc.org/home/ 50 Rowe Street Suite 700 departments/pedi/pedgen.htm Melrose, MA 02176 Services: Pediatric genetic evaluation Phone: 781-662-4688 Fax: 781-662-5394 OUTREACH SITES: Womens Medical Arts Building, 3rd floor Worcester Medical Center Maternal-Fetal Medicine Department Laurie Demmer, MD 85 Herrick Street Phone: 617-636-7790 Beverly, MA 01915 Phone: 978-922-3000 x 4010 St. Anne s Hospital Jodi Hoffman, MD Fall River, MA Phone: 508-235-5285

CENTER FOR PERINATAL DIAGNOSIS Phone: 617-636-4277 Fax: 617-636-4273

OUTREACH SITES:

Lowell General Hospital Maternal-Fetal Medicine Department 295 Varnum Avenue Lowell, MA 01854 Phone: 978-937-6000 Fax: 978-937-6809

Lawrence General Hospital Maternal-Fetal Medicine Department 46 Prospect Street Lawrence, MA 01841 Phone: 978-683-4000 x 2901 Fax: 978-946-8184

South Shore Hospital Maternal-Fetal Medicine Department 55 Fogg Road South Weymouth, MA 02190 Phone: 781-340-8430 Fax: 781-340-4344

93 UNIVERSITY OF MASSACHUSETTS MEMORIAL MEDICAL CENTER 55 Lake Avenue North Worcester, MA 01605

GENETICS CLINIC Phone: 508-856-3949 Appointment Phone: 508-856-5695 Fax: 508-334-3525 Services: Prenatal, pediatric, cancer and adult genetic counseling This program provides comprehensive services including diagnosis and management of patients with congenital malformations, genetic syndromes, chromosomal disorders and inborn errors of metabolism. Diagnostic evaluation of children with developmental delay and mental retardation is available. In addition, genetic counseling is provided for individuals, couples and families who may be at a risk for inherited diseases. Specific diagnostic, carrier, and/or prenatal testing is arranged as indicated. Providers work closely with the Cytogenetics and Molecular Diagnostic Laboratories in the Department of Pathology at the University of Massachusetts Medical Center. Close alliance is also shared with the departments of Neonatology and Perinatal Medicine at the Medical Center of Central Massachusetts.

OUTREACH SITES:

Milford-Whitinsville Regional Hospital Women’s Pavilion 14 Prospect Street Milford, MA 01757 Phone: 508-473-1190 x 2859 Fax: 508-473-1257

Health Alliance Hospital 60 Hospital Road Leominster, MA 01453 Phone: 978-466-2660

94 VIII. GENETIC SERVICES:NEW HAMPSHIRE NEW HAMPSHIRE DEPARTMENT OF HEALTH Newborn Screening Program Marcia Lavochkin, RN BSN Program Coordinator 29 Hazen Drive Concord, NH 03301 Phone: 603-271-4225 Fax: 603-271-4519 www.dhhs.state.nh.us or www.nh.gov

The Newborn Screening Program monitors the blood screening of all infants born in NH for potentially serious disorders and ensures immediate follow-up on abnormal result.

DARTMOUTH-HITCHCOCK MEDICAL CENTER One Medical Center Drive Lebanon, NH 03756

Medical Genetics Clinic: 603-653-6044 Prenatal Diagnosis Program: 603-653-6025 Neurometabolism Program: 603-653-9668 Familial Cancer Program: 603-653-3541 or 800-639-6918 Fax: 603-653-3585 http://www.dhmc.org/webpage.cfm?s ite_id=2&org_id=136&gsec_id=0&sec_ id=0&item_id=3692

ELLIOTT HOSPITAL 275 Mammoth Road Suite One Manchester, NH 03109 Phone: 603-663-8611 Fax: 603-668-0164 www.elliothospital.org/services/gene tic_counseling.html Services include cancer genetic counseling, prenatal genetic counseling, pediatric and adult genetic counseling on a limited basis.

PREGNANCY ENVIRONMENTAL HOTLINE: Phone: 781-466-8474 or 800-322-5041 (in MA) (also serves MA, ME and RI)

96 IX. GENETIC SERVICES:RHODE ISLAND PREGNANCY ENVIRONMENTAL CENTER FOR SPECIAL CHILDREN (CSC) HOTLINE: Phone: 401-444-5685 Phone: 781-466-8474 or 800-322-5041 (in MA) Fax: 401-444-6115 (also serves ME, NH and RI) The Center for Special Children (CSC) at Hasbro Children’s Hospital is a site for the RHODE ISLAND DEPARTMENT OF evaluation and treatment of children HEALTH with neurological, developmental, behav- NEWBORN SCREENING PROGRAMS ioral, metabolic, and genetic disorders. 3 Capitol Hill, Room 302 Providence, RI 02908-5097 Specialty providers include Child Neurology, Ellen Amore, MS, Newborn Screening Developmental/Behavioral Pediatrics, Program Manager Genetics, Metabolic Disorders, Neuro- Phone: 401-222-4601 surgery, Neuro-rehabilitation,Orthopedics, Family Health Information Line 1-800- Urology, and Psychology. Providers work 942-7434 in collaboration with occupational, physi- www.health.ri.gov/genetics/ cal and speech therapists, as well as social newborn.php workers and parent consultants.

The Rhode Island Department of Health CYSTIC FIBROSIS CENTER (HEALTH) has integrated genetics into Phone: 401-793-8560 many different programs. The department Fax: 401-793-8561 has two Genetics Committees. Information is available at http://www.health.ri.gov/ SICKLE CELL AND HEMATOLOGICAL genetics/committees.php DISORDERS Phone: 401-444-5241 Genetics Core Team — Includes representa- Fax: 401-444-3872 tives from a wide variety of programs involving genetics. The team coordinates imple- PEDIATRIC ENDOCRINOLOGY AND mentation of the State Genetics Plan. METABOLISM Phone: 401-444-5504 Genetics Advisory Committee — Meets Fax: 401-444-2534 quarterly to advise the Director of HEALTH on genetic issues. WOMEN AND INFANTS HOSPITAL PRENATAL DIAGNOSIS CENTER RHODE ISLAND HOSPITAL AND 79 Plain Street HASBRO CHILDREN S HOSPITAL Providence, RI 02903 593 Eddy Street Phone: 401-453-7510 Providence, RI 02903 Fax: 401-453-7517 http://www.womenandinfants.com/b GENETIC COUNSELING CENTER ody.cfm?id=92&action=detail&ref=44 Phone: 401-444-8361 Fax: 401-444-3288 The Prenatal Diagnosis Center provides www.lifespan.org genetic counseling before conception and during pregnancy as well as screen- Provides genetic counseling and diagnostic ing and diagnostic testing during preg- services for children, adults and families nancy. Genetic counselors, nurses and with genetic disorders or birth defects. physicians staff the center. Satellite Genetic counseling for hereditary cancer clinics are located at South County families and cancer risk assessment is Hospital (Wakefield, RI), Charlton provided in collaboration with the Memorial Hospital (Fall River, MA), and Comprehensive Cancer Center at Rhode New Bedford, MA. Island Hospital.

98 PROGRAM IN WOMENS ONCOLOGY 101 Dudley Street Providence, RI 02905 Phone: 401-453-7540 Fax: 401-453-7785 http://www.womenandinfants.com/ body.cfm?id=187 Provides cancer risk assessment and prevention counseling at Women and Infants Hospital, Kent Hospital, Westerly Hospital and in New London, Connecticut. Patients receive a comprehensive analysis of their cancer risk based upon medical, familial, and lifestyle factors. A personal approach to cancer prevention may include recom- mendations for medical screenings, lifestyle modifications, genetic testing and chemopreventive strategies.

Patients also seen at:

NEW LONDON CLINIC: Phone: 860-439-1770 Fax: 860-447-2854

99 100 X. GENETIC SERVICES:VERMONT VERMONT DEPARTMENT OF HEALTH Newborn Screening and Universal Newborn Hearing Screening Children with Special Health Needs (CSHN) P.O. Box 70 108 Cherry Street Burlington, VT 05402 Newborn Screening Phone: 802-951-5180 Universal Newborn Hearing Screening Phone: 802-865-1330 Consumer Scholarships Phone: 802-863-7338 Fax: 802-951-1218 http://www.healthyvermonters.info/ hi/cshn CSHN also has clinic services including: cardiology, child development, craniofacial/ cleft lip and palate, cystic fibrosis, epilepsy and neurology, hand structure and function, hearing outreach program, hemophilia, juvenile rheumatoid arthritis, metabolic, muscular dystrophy, myelomeningocele, orthopedics, and rhizotomy (cerebral palsy).

THE VERMONT REGIONAL GENETICS CENTER 112 Colchester Avenue Burlington, VT 05401 Phone: 802-847-4310 Fax: 802-847-4664 Offers prenatal, pediatric, adult and cancer genetic counseling and testing, as well as a free teratogen information service.

VERMONT PREGNANCY RISK INFORMATION Phone: 800-932-4609

102