This newsletter is sponsored by Genzyme Corporation. Genzyme by sponsored is newsletter This September 2007 LysoStories™ A Publication from your Healthcare Advocates

What’s New Welcome

Take a look at the updated MPSI website at We hope that you enjoy reading this issue of LysoStories, a newsletter designed by Health Care Advocates for patients www.mpsIdisease.com and families with lysosomal storage disease (LSDs). If you have a suggestion for an article or would like to tell your story, please contact a member of the Publications Committee. Don’t miss the National Gaucher Foundation • Karen Grinzaid, MS, CGC • Erin O’Rourke, MS, CGC • Lisa Sniderman King, M.Sc, CGC Conference in Atlanta on October 14 and 15, Emory University School of Medicine Genzyme Liaison University of Washington 2007. This year’s conference, “Science Evolv- (404) 778-8516 (412) 734-1534 (206) 987-1406 ing - Where It’s Taking Us - A Look into the Future [email protected] [email protected] [email protected] for Gaucher Disease” will be held at the Westin Peachtree Plaza, 210 Peachtree Street, Atlanta, • Nadene Henderson, MS, GCG • Nita Patel, RNC, BSN Georgia. To register, visit the NGF website University of Pittsburgh Saint Peter’s University Hospital at www.gaucherdisease.org or email: (800) 334-7980 (732) 745-6681 [email protected]. [email protected] [email protected]

Center News Having invisible disabilities also has affected how A Publication from your Healthcare Advocates Healthcare your from Publication A Patient Story

I relate to others. I know that I should not make

Lysosomal Storage Disease Center Stories

Lyso judgments based only on what I see. I recently met TM Emory University Invisible Disabilities the mother of a friend and she did not get off the couch to introduce herself. I might have thought she Please join us for our upcoming Annual MPS By Nathaniel Goldman was being rude, but instead, I wondered if she had Family Meeting on Sunday, September 23rd at A 19 year old with Fabry disease an invisible disability or other hidden reason that Maggiano’s Little Italy, 4400 Ashford Dunwoody prevented her from getting up. Additionally, I have Rd., Atlanta, GA 30346, phone 770-804-3313. I wish I had a cast on my arm, so people would see it (Note that this is the Perimeter Maggiano’s, become very sensitive to people’s feelings. I understand (continued from page 3) and ask, “How can I help?” My disabilities, however, that everyone’s pain is not visible, and that words and not the Buckhead location). The meeting will are invisible. I have two challenges: a learning 1. Parent Participation in Meetings: 3. After the Meeting: provide all local MPS patients and families an actions can cause wounds that are not seen. To establish and maintain an effective team atmosphere be positive. • Add documents from the conference to your files. disability, which makes it difficult to read and write; opportunity to visit with each other and share and an enzyme deficiency, called Fabry, which makes • Send a follow-up letter of your recollections about what happened information. Please RSVP to Heather Clark at I have also changed my philosophy about major • Don’t allow your emotions to interfere; be factual, prepared, and and a brief thank you letter. Include your understanding of what it almost impossible to walk long distances, play concepts in life. I know from personal experience that the Emory LSDC at 404-778-8536 or email sports, or be out on a hot day. These invisible disabili- ask for clarification. the school agreed to, and issues that went unresolved. [email protected]. something does not have to be seen to exist. Invisible • Know the philosophy of your principal. Does he/she truly believe • Keep written records, keep written records, oh, did I say keep ties have taught me to deal with many situations. I does not mean nonexistent. This has helped me accept all children can learn? written records. have learned about myself, about others, and about the existence of concepts that I believe are real, even • Educate the team on LSDs. This will give them more information • Take care of yourself or you will become exhausted and burn out. life in general. though I cannot offer visible proof, like prejudice, to plan your child’s educational program. Pace yourself. love, hate, faith, or God. • Learn about tests and measurements. These disabilities have taught me to take care of myself • Dress professionally. In closing I would like to extend encouragement to those families who have in several specific ways. First, I have to acknowledge My invisible disabilities have helped me look at life • Gather all your child’s medical and educational records that are children with disabilities. Having a child with special health care needs my disabilities. When friends go on a hike, I must use through more understanding eyes. I know who I pertinent to the meeting. Review your child’s records. What are means becoming his or her voice. Do not give up; there are many knowl- good judgment and stay behind, even if I want to go. am and what I must do for myself. I am careful not their strengths and weaknesses, what do you want them to achieve edgeable professional advocates that will assist you through this process and Admitting, especially to myself, that I cannot do what to prejudge others. I accept certain universal beliefs this year, what are your long-term goals for your child, how does ultimately improve the quality of life for your child. others do has been a hard lesson to learn. Second, I about life that can not be proven. Having disabilities your child’s disability affect his or her ability to learn? must be my own advocate. As Rabbi Hillel said, “If I that are not readily observed by others is not just a • Write down questions and concerns. The LSDC group at Emory (left to right): Karen Grinzaid, am not for myself, who will be for me?” For example, part of who I am, but has actually changed who I have Eleanor Botha, Dawn Laney, Dr. Paul Fernhoff, Heather I need to make arrangements for extended time to become. 2. During the Meeting: Clark, Erin Rooney and infusion nurse Trudi Holbrook. complete tests and assignments, and to plan ahead to • Sit next to the administrator or the person who will ultimately obtain recorded tapes of assigned text books. Third, make the decisions. I need to communicate the effects of my disabili- • Ask questions, define and describe issues, problems, and offer ties to others. This is especially difficult because my solutions. limitations are not apparent to other people. When • Stay on task. a coach, or teacher, or employer tells me to do some • Learn to be a negotiator. Prioritize important issues. physical activity that I cannot do, I have to explain that • Take notes. If it is not written down, it never happened! I am unable to do it. If he or she says, “no excuses,” I • If at all possible both parents should attend the meeting and have to continue to explain and not be intimidated. present a unified front. If not take a friend or advocate so you don’t feel vulnerable and can process the meeting together afterwards. • Do not sign the IEP at the meeting if unsure. Take it home and read it. Identifying a Dragon help explain the lack of sweating, fatigue, depression, and anxiety. Two excellent your child. This is the key that will unlock the door which is verified by a physician. Instructional services the student’s achievement, although there may be physicians at Emory Children’s Center, Dr. Lillian Meacham (endocrinology) for your child. I encourage all parents to obtain a are available to all qualified students during conva- changes in teaching materials used, testing materials, By Toby Director and Dr. Bess Schoen (gastroenterology), stood at an important crossroad, and copy of their states rules and regulation through the lescence or treatment time in a medical institution or even in the instructional environment. Once these guided us in the right direction. They each took that significant step beyond Department of Education. or therapeutic treatment center, or at the student’s changes are made, the standards of achievement “Why are you so invested in finding something wrong with your sons?” came the treating the symptoms in their own specialty and insisted that we look further for place of residence. The length of instruction for remain the same. For example, a child may be unable question from a close relative. “Something is wrong with them,” I answered, “I’m the underlying cause. Individual with Disabilities students in a full-day program is six hours per week; to read an assigned textbook; therefore the accom- just invested in trying to find out what it is.” That determination finally paid off. Education Act (IDEA) however, parents should know this time is not fixed modation would permit the student to listen to a After a long search, with several false detours, we finally did obtain the correct The search finally led us to the Mayo Clinic. An admitting doctor lookedat The IDEA has six principles. The first four principles and can be increased through a team decision. taped version. Once the student has heard the story, diagnosis. We could, then, begin to knowledgeably address the problem. the angiokeratomas and said, “You need to see a dermatologist.” Within several reflect the actual processes that schools follow in order however, he or she must take part in all required hours, the dermatologist examined my sons and said, “You need to see the pedi- to provide each student with a disability, the benefits Some children with LSDs also receive enzyme testing and assigned work. Accommodations are One of the difficulties with diagnosing Fabry Disease is that the symptoms send atric-dermatologist.” A short time later, the pediatric-dermatologist took another of a free appropriate education in the least restrictive replacement therapy (ERT); therefore, missing school individualized to suit the student learning style the patient to a variety of specialists who concentrate on one organ system and look and said, “You need to see the genetic-pediatric-dermatologist.” When the environment. The last two are the procedures that up to one day a week. In the state of Minnesota, and developmental level. Other examples are high- never see the whole picture; they are like the blind men who describe an animal genetic-pediatric-dermatologist finished her exam, she opened a book to a page parents and students can use to hold the schools there is a section in our rules and regulations lighting, rehearsal, color coding, memory joggers, by feeling only its trunk, its leg, its tusk, or its tail, and who never identify it as with the title, Fabry Disease. On the page were listed about thirteen character- accountable for carrying out the first four principles. entitled “Care and Treatment.” Children receiving visual cues, number lines, alphabet strips, flip charts, an elephant. In our case, however, we were dealing with a “dragon”, the name istics of Fabry Disease and about eleven of them described our personal family ERT qualify to receive direct instruction at the organization/transition cards. patients have begun to use as a euphemism to refer to Fabry Disease. “dragon.” Children with LSDs typically are classified under facility in which they are receiving ERT or another “Other Health Impaired.” The term includes a agreed upon place. Parents need to check with their Modifications are more intensive changes to the We visited gastroenterologists to treat digestive problems, dermatologists to Of course, we followed up with skin biopsies and blood tests to confirm the chronic or acute health problem resulting in limited state regulations to receive services for their child’s difficulty level and /or the quantity of material to be look at angiokeratomas, neurologists to analyze hand and foot numbness and diagnosis and eventually to identify our family’s specific genetic mutation. But strength, limited vitality or alertness, where special excessive absences due to medical treatment. learned. Modifications also may, in fact, change the burning, endocrinologists to do a work up for delayed growth, cardiologists to as soon as we read the description on that page, we knew the dragon was out of education and related services are needed because way material is presented and the nature of testing. check out chest pain and heart murmurs, orthopedists to investigate foot and leg the bag (or book)! the disease adversely affects his/her educational Individualized Educational Program (IEP) Modifications create a different standard for children pains, geneticists to search for ethnic-related diseases, and a variety of doctors to performance. The IEP is not a “one-size-fits-all” program. Indi- whose disabilities require more intense adjustments. vidualized Educational Programs are unique when a An example of the modification may be seen in a During the Individualized Education Program (IEP) child has a neurodegenerative disease. For children spelling test that reduces the number of words to meeting, parents need to make sure their child’s with degenerative conditions, the IEP may include be studied. Basic modification decisions become disease is clearly defined and a description of the related services such as physical and occupational long-range goals for the child’s educational program, A Simple Blood Test: which the condition is inherited. Fabry disease is inherited in an X-linked pattern. disease is added to the IEP. It is important that the therapy or other services to address the child’s needs and they serve as a guide for educational decision- This means that the non-working GLA gene that causes Fabry disease is located team, including the teacher, knows what the disease in the areas of self-help, mobility, and communica- making on the daily and long-term basis. Diagnosis of Fabry Disease on the X-chromosome. Females have two X chromosomes while males have one is and how it is manifested in the educational setting. tion. This is to help maintain the child’s present level X- and one Y-chromosome. If a female has Fabry Disease, each of her sons and For example, if you have a child with a diagnosis of of functioning for as long as possible so that the For students with more complex special needs, By Dawn Laney, MS, CGC daughters is at 50% risk for the disease. If a male has Fabry disease, all of his Hurler syndrome (MPSI), you would define it and child benefits from special education. The IEP team an alternate assessment may be most appropriate. daughters and none of his sons are at risk to develop symptoms of Fabry disease. the symptoms (orthopedic, language, inattention, is required to review a child’s existing health data Alternative assessments measure a different area of The situation described in Toby’s story is not unusual. Many individuals affected corneal clouding). It is important to realize that if which may include evaluations and information skill or concepts than normally used for a given by Fabry disease visit many specialists before a diagnosis of Fabry is considered. A genetic counselor or medical geneticist can help identify at-risk family members a child has a disability but does not need special from parents, medical professionals or neuropsy- grade level or subject. However, once the suspicion is raised, testing for Fabry disease is easy and only by meeting with a family and creating and analyzing a detailed family history. education services, the child will not be eligible chologists who know the child and the child’s specific involves a blood test. When testing, a small sample of blood is drawn at a local At-risk family members may then be tested by taking a sample of their blood and under IDEA but may be eligible under Section 504 medical conditions. The IEP team can then include Assistive technology includes “any item, regardless physician’s office or hospital and then sent to a qualified lab for testing. Initial looking for the mutation known to be present in their affected family members. of the Rehabilitation Act. Section 504 does not appropriate services designed to extend current of its origin, that is used to increase, maintain, a testing in males usually requires measurement of the -galactosidase enzyme This type of testing is called “targeted” DNA analysis in that it only looks for receive federal money for providing 504 accommo- skills throughout the child’s enrollment in school, or improve functional capacities of a child with a which is deficient in Fabry disease. Testing in females usually requires two tests: the mutation in the GLA gene known to cause Fabry disease in that particular dations, so there is less incentive for serving children especially if the disease results in negative progression disability,” but excludes “a medical device that is a and the -galactosidase enzyme test the Fabry DNA test in which the Fabry gene family. under these laws, nor do the children have an IEP and cannot be fully corrected or stabilized. surgically implanted, or the replacement of such (called GLA) is sequenced or studied in detail. This DNA sequencing test looks under a 504, so parents beware. a device.” Assistive technology is considered in for “mutations” or changes in the GLA gene that cause Fabry disease. Results of Once a family member is diagnosed with Fabry disease, testing other family Remember, because your child’s medical status often children with LSDs with significant orthopedic, testing are available 2-3 weeks from the time blood is received at the lab. Insurance members is now easier thanks to the Fabry Family Member Testing Project. Children with LSDs also begin receiving services early. changes, an IEP team meeting can be requested visual, hearing, or language impairments. usually covers the tests as long as the individual insurance precertification require- This joint project between the American Association of Kidney Patients (AAKP) Children (Ages 3- 9) may qualify in one or more of more than once a year. The contents of an IEP ments have been met. and Emory Genetics Laboratory provides free Fabry disease testing to at-risk the following areas: physical development, cognitive, should include: the present levels of academic Because some children with LSDs are both medically individuals whose family mutation is known. For more information about the development, communication development, social achievement and functional performance, annual and cognitively involved, many should be eligible When one member of a family is diagnosed with Fabry disease, it is crucial to test Fabry Family Member Testing Project, please call the Emory Lysosomal Storage or emotional development, or adaptive development. goals, educational progress, and special education for Extended School Year (ESY). This is not summer other at-risk relatives. A recent multi-center study found that when an individual Disease Center at 404-778-8565 or 800-200-1524, or visit the project’s website Infants and toddlers (Ages 0 –3) who experience the with related services. Also included should be school. ESY services are provided to maintain is diagnosed with Fabry disease, on average there are five more affected family at http://www.genetics.emory.edu/LSDC/fabryproj.php trauma of life-threatening illness and treatments statements of the special education and related the skills or behaviors the child has developed members. The large number of affected relatives can be explained by the way in are entitled by federal law to early-intervention services, supplementary aids and services (based on as identified on the IEP. There are six factors that programs that try to head off developmental delays. peer-reviewed research), program modifications or the IEP team should consider in deciding if the These services do not depend on a family’s ability to supports for school personnel, and finally, accom- child is eligible for ESY one of which is regression pay. According to a child’s and family’s needs, the modations and alternate assessments. and recoupment. Regression refers to a decline in Advocating for your Child’s children who are medically fragile and often developmentally disabled from child may receive physical and occupational therapy, knowledge and skills that can result from an inter- the general population of children with chronic conditions. Families identify, speech therapy, and special instruction. The family Accommodations, modifications, and alternative ruption in education. Recoupment is the amount of Educational Needs obtain, coordinate, and monitor a wide range of services for their child, one of may be entitled to family services, such as training, assessments may be necessary for a special needs time it takes to regain the prior level of functioning. which is educational services. counseling, or case management to help coordinate child to succeed at school. The terms accommoda- The issue is whether the benefits derived by the child By Kendra J. Bjoraker, Ph.D., L.P. services. tions and modification are frequently used inter- during the regular school year will be significantly Advocating for educational services is overwhelming and often frustrating for changeably, but they are not identical in their jeopardized if they are not provided an educational “Succeeding in school is one of the most therapeutic things many parents with children requiring more than the “regular” curriculum in Home and Hospital Services effect on teaching and learning and have important program during the summer months (or breaks). that can happen to a child!.” order to learn. The following suggestions are offered to help assist your child as Because the treatment for some lysosomal storage differences. Both terms are included in IDEA and they enter school this fall. diseases can involve bone marrow transplanta- are described below. Parent Participation It is that time of year again; the excitement of getting your children ready for tion, many children qualify for home and hospital The following are suggestions that I have gathered the new school year…buying new shoes, clothes and supplies. And although The basic foundation for being effective in collaborating with regular and special educational services. Home and hospital teaching Accommodations are defined as alternative ways over the years from parents and professionals, from this holds true for families with lysosomal storage diseases (LSDs), feelings of educators is knowledge of the laws, regulations, and rules governing special is designed to provide instruction to public school for students to acquire information or share what being a former special education teacher myself, as anxiety, fear, and uncertainty also arise. The complex and continuous nature education. Read the law, learn the law, and do not rely on anyone else to tell students who are unable to attend a regular school they have learned with you. Accommodations do well as a parent of children with disabilities. you what the special education laws mean for of their conditions and the high level of skill their care demands differentiates (continued on next page) program due to a physical or emotional condition not lower the difficulty level nor expectations for (continued on back) 2 3