FA FAMILY NEWSLETTER #38 A Semi-annual Publication of the Fanconi Anemia Research Fund, Inc. Fall 2005

Two New FA Genes Isolated Major advances in FA science were recently reported in the August 20, 2005 online edition of the presti- gious journal, Nature Genetics. Lead- ing laboratories have isolated two FA genes, FANCJ and FANCM. The FA Research Fund has given generous support to these efforts. FANCM, also called FAAP250, was isolated by A. Ruhikanta Meeti, et al., under the direction of Wei- dong Wang, PhD of the NIH National Institute of Aging. The protein associated with this gene is a member of the FANC “core continued on page 14

HIGHLIGHTS Andy Eichenfield, the Camp doctor, and the Camp dog lead the walk to the pond for the Wish Boat launching. New Therapies with Potential to Improve Transplantation Annual FA Family Meeting Discussed ...... 2 A record 49 FA families, from as joined in the greeting, dispensing Chromosome Three Changes far away as Australia, Norway, and hugs and high-fives to the awestruck Seen as Warning Signal ...... 2 Germany, arrived at Camp Sunshine little ones. Head and Neck Cancer on Sebago Lake, Maine, in August The meeting was packed with in FA Patients ...... 4 for the 15th Annual FA Family wonderful recreational activities for Meeting. Those FA families who had the kids, from the toddlers to the Harris Receives attended past meetings were delight- teens. This was the first time that Lifetime Achievement Award...... 8 ed to see one another again and many FA patients had met another Family News ...... 9 instantly took up where they left off FA patient. That, alone, made Camp last year. The fears of new families worthwhile. For siblings of FA 2005 Family Meeting were immediately calmed by the patients, Camp presented a unique at Camp Sunshine ...... 12 warmth of Camp Sunshine’s welcom- opportunity to share the experience Fundraising...... 19 ing volunteers, assisted by furry cos- of dealing with FA with other tumed bears and a chipmunk that continued on page 12 MEDICAL NEWS

New Therapies with Potential to Improve Transplantation Discussed Margy MacMillan, University of Minnesota, brought hope and optimism to Camp Sunshine with her exciting presentation of four potential new thera- pies for FA patients which she and her colleagues, including John Wagner, have developed. These therapies are designed to reduce transplant-related tox- icity, graft-versus-host disease (GVHD) and infections, and to improve immune recovery and survival. 1) Multipotent adult decrease the risk of infections in FA progenitor cells patients after transplant. Discussions One single multipotent adult are underway with Amgen to make progenitor cell derived from adult this product available to FA patients. bone marrow can be cultured and expanded in vitro, and can retain the 3) Mesenchymal stem cells ability to differentiate into various Mesenchymal stem cells are the Margy MacMillan, MD tissues. In mouse models, these cells honeycomb-like cells that support seek out areas of injury, suppress the the bone marrow. They can be isolat- host’s immune system, and engraft, ed from donor marrow and grown in and grown from donor marrow, and without causing tumor formation. It the laboratory. When given at the can be infused at the time of trans- is hoped that these cells can be used time of transplant, they may speed plant. These cells have been shown to in FA patients to regenerate and engraftment, reduce toxicity and pre- reduce GVHD in mice. The first repair tissues following transplanta- vent graft-versus-host disease. human trials are about to start at the tion and could be a vehicle for gene University of Minnesota. Initially therapy. The capacity of these cells to 4) T Regulatory Cells these trials will be in non-FA patients proliferate in different tissues T regulatory cells are a subset of with the hope of bringing them to ◆ throughout the body makes them lymphocytes. They can be isolated FA patients in the near future. particularly hopeful for a disease that affects all body tissues. Researchers at the University of Chromosome Three Changes Minnesota are planning their first clinical trial of MAPC, to begin in Seen as Warning Signal January 2006. Only high-risk trans- Families attending Camp Sunshine heard experts from two transplant cen- plant patients (those with fungal or ters speak of the significance of subtle changes in chromosome 3 in FA gram-negative infections or heavily patients. If a gain is detected in the long arm of chromosome 3, Dr. Wolfram transfused patients) will be eligible Ebell of Charité Hospital in Berlin believes this event signals a progression for this first trial which will test the that will result in myelodysplasia or leukemia. Ebell believes proceeding safety of this approach. quickly to transplant is necessary under these circumstances. Dr. Richard Harris of Cincinnati Children’s Hospital agreed that concern about this clon- 2) Keratinocyte growth factor al progression was consistent with his own experience. In non-FA patients, keratinocyte Heidemarie Neitzel, PhD, of the Institute for Human Genetics, Charité, growth factor reduces side effects of Berlin has published a peer-reviewed study of this phenomenon in the journal bone marrow transplantation, espe- Blood. FARF recently funded a proposal to track patients in a number of cen- cially mouth sores. Researchers antic- ters internationally to determine whether systematic monitoring of this chro- ipate that this growth factor may mosomal change in the bone marrow and the peripheral blood is a reliable enhance immune recovery and indicator for the timing of a stem cell transplant. ◆

2 FA Family Newsletter IVF/Preimplantation Genetic Diagnosis Renee Genovese, MS, Genetic dealing with infertility problems. Counselor, Reproductive Genetics The mother takes hormones, which Institute (RGI), Chicago, discussed stimulate her ovaries to produce mul- preimplantation genetic diagnosis tiple eggs. The eggs are retrieved, fer- (PGD) as an option for FA parents at tilized with the husband’s sperm, and the August FA Family Meeting. PGD allowed to develop in a test tube. makes it possible to diagnose genetic One cell from each embryo (called a disease in fertilized eggs/embryos blastomere) is removed on the third before a pregnancy occurs. This pro- day following egg retrieval. This cell cedure can also be used to test for is tested for absence of the genetic HLA antigens, thereby determining disease and HLA antigens, if request- if a pregnancy might provide a ed. With FA, there are 3 chances in 4 matched sibling donor for a later that a blastomere will be free from Renee Genovese, MS transplant. FA, and 3 chances in 16 that any one In vitro fertilization (IVF) is done blastomere will be free from FA and in conjunction with PGD. Parents will be an HLA-matched donor for to testing one cell from the blas- can opt to come to Chicago for the an FA sibling. Removal of one blas- tomere, cells called “polar bodies” entire procedure or work with a local tomere cell from the embryo carries a from the egg are studied for “linked IVF facility in addition to the Repro- less than 1% risk that the embryo markers” that give assurance that the ductive Genetics Institute in Chica- will not develop. embryo(s) selected for transfer will be go. RGI works with over 70 IVF Genovese stated that RGI takes healthy. While no center will promise centers throughout the country and great care to maximize the possibility 100% accuracy, RGI quotes 98% outside of the United States. that only healthy embryos are accuracy. Fertile couples go to a clinic returned to the mother. In addition continued on page 17

Transplant Results in Germany Wolfram Ebell, MD, Charité gone transplant have generally lived donor transplants at his center using Hospital, Berlin, reported on 195 FA longer than transplanted patients. fludarabine, low-dose busulfan, and a patients who have been followed over Patient characteristics between these non-irradiation protocol. Of 17 the past two decades in Germany. two groups, especially severity of dis- patients, 11 survive. Survival was bet- While both transplanted and non- ease causing a need to transplant, ter in patients with aplastic anemia or transplanted patients are living probably explain this difference. myelodysplasia (10 of 14 survive) longer, those who have not under- Ebell emphasized the importance than in those with leukemia, where of identifying those patients who only one patient of three survived. have a very poor prognosis without a Ebell states that his own center bone marrow transplant. The pres- waits longer than others to proceed ence of a subtle clonal abnormality to transplant. He believes that the on chromosome 3 is a powerful pre- window between the diagnosis of dictive factor. Germany has followed MDS and leukemia is large enough 18 patients with this abnormality, to locate an appropriate donor and and the outcome has been grim. proceed to transplant. Once this clone appears, it does not Of great concern is a 12-year-old go away but expands in the bone patient who developed squamous cell marrow, leading to myelodysplasia carcinoma of the tongue very early (MDS) and leukemia. These patients after transplant. This patient did not need to be transplanted well before have graft-versus-host disease, which the onset of leukemia. is known to be associated with later Wolfram Ebell, MD Ebell has performed 17 unrelated malignancies. ◆

Fall 2005 3 Head and Neck Cancer in FA Patients David Kutler, MD, Department incidence of these cancers by age 40. of Otolaryngology, Head and Neck Age of onset is as young as 10. Kutler Surgery, NYU Medical Center, spoke discussed 19 FA patients with squa- at Camp Sunshine on prevention, mous cell carcinoma of the head and surveillance recommendations, and neck. Most of these cancers appeared treatment of squamous cell carcino- in the mouth (as opposed to more ma of the head and neck in FA distant regions of the throat or neck); patients. In non-FA patients in the most were in either stage 1 or stage 4 United States, use of alcohol and/or at the time of diagnosis. Ten patients tobacco is the main risk factor for experienced a recurrence of the these cancers, accounting for 85% of cancer, usually in the first year after all diagnosed cases. Chewing betel removal of their tumor. Fourteen of nuts, certain viruses (human papillo- nineteen patients died; eleven of these ma virus and Epstein-Barr virus), and died because of their malignancy. genetic diseases such as FA also cause Kutler emphasized the impor- David Kutler, MD cancers of the head and neck. Kutler tance of prevention of these cancers. strongly recommended that all FA In addition to refraining from expo- in FA patients, it would be advisable patients refrain entirely from the sure to alcohol or tobacco, patients to immunize patients against these use of alcohol or tobacco. In addi- are advised to maintain good oral viruses. To date, immunization tion, FA patients should never be hygiene. If a causal connection can against HPV has not received final exposed to second-hand smoke. be established between viral infec- FDA approval. In FA patients, there is a 21% tions such as HPV and these cancers continued on page 7

Endocrine Problems in FA Patients; Nutritional Needs Noted Susan Rose, Professor of are extremely common in FA percent had hyperglycemia or high Endocrinology at Cincinnati Chil- patients; many problems are respon- blood sugar (47% had impaired glu- dren’s Hospital Medical Center, dis- sive to therapy that might improve cose tolerance and 41% overt dia- cussed the importance of identifying growth and overall health. betes mellitus). and treating endocrine problems in Over the past three years, Rose emphasized the special FA patients. Endocrine abnormalities endocrinologists at the FA Compre- nutritional needs of FA patients. All hensive Care Center, Cincinnati patients should avoid food with a Children’s Hospital Medical Center, “high glycemic index” or foods that have conducted endocrine studies in rapidly raise blood sugar. These 48 children with Fanconi anemia. include concentrated sweets (such as Over a third of these children were pop tarts, colas, juice, sweet cereal); small for gestational age. Sixty-seven white bread, white bagels, white rice, percent (32 of 48) had short stature. potatoes, pasta; and jelly beans, life- Eighty percent of the FA children savers, corn chips, pretzels, and rice studied had abnormal thyroid tests, cakes. Foods with a “low glycemic although many of these abnormali- index” are greatly preferable. These ties were “mild.” include nuts, peanut butter, beans, Of the 32 children able to whole grain bread, brown rice and complete the oral glucose tolerance whole-wheat pasta; fruits and vegeta- test (OGTT), 28 (88%) had abnor- bles; cheese, milk, meats or poultry; mal insulin-glucose levels. Some peanut M&Ms, Snickers (nuts or made insulin but were not sensitive protein causes foods to be digested to their own insulin; others failed to more slowly, preventing the rapid Susan Rose make adequate insulin. Eighty-eight conversion to sugar). ◆

4 FA Family Newsletter FA Treatment Update from Cincinnati Participants at Camp Sunshine again welcomed Franklin Smith, MD, of the Cincinnati Children’s Hospital Fan- coni Anemia Comprehensive Care Clinic. Smith described ongoing research projects related to FA. Among notable developments are the following: •In the normal population, 50% of people have a gene called GSTM and in 50%, this gene is missing. FA-C children who lack this gene all have early onset bone marrow failure. •FA patient marrow stem cells die in part because they develop high levels of a protein called tumor necrosis factor (TNF), which is toxic to stem cells. However, a currently licensed drug, etanercept, is known to neutral- ize TNF. Cincinnati will shortly open a study for children just starting to develop low counts to see whether this drug, which is taken as an injection once a week, can preserve the participants’ stem cells. • Androgens, which have troublesome side effects for some patients, also can delay marrow failure for about two years. About 50% of FA patients respond to androgens. Cincinnati has opened a new study testing an androgen called oxandrolone. This drug may have fewer side effects and work better. Six patients have enrolled in the study; four have responded positively to this drug to date. •Matched sibling FA transplants at Cincinnati have resulted in a high suc- cess rate. Of the last 35 sibling donor transplants performed at this center, Franklin Smith, MD 88% of the children are alive and well with normal blood counts. •In order to reduce the risk of cancer, FA children receiving sibling donor transplants in the future will not receive radiation. They will receive a special antibody (Campath) to help new cells grow and to prevent graft-versus-host disease. • Cincinnati has begun doing pre-transplant chemotherapy on FA children who develop leukemia or severe MDS with abnormal chromosomes (e.g., monosomy 7). Of the six children treated with this FLAG (fludarabine/cytara- bine and GCSF) therapy, three were cleared of the disease and are alive. ◆ Patrick Kelly Gives Gene Therapy Update Dr. Patrick Kelly gave Camp cells are lost when they are manipu- Sunshine attendees a report on the lated outside of the body. New current gene transfer trial at Cincin- methods for freezing and thawing nati Children’s Hospital. This trial is these cells are currently in use, which currently open to FA-A patients only. should improve their viability. Of the first three patients treated, one Because of these advances, Kelly had had marrow frozen five years ago. emphasized the importance of early The process of freezing, thawing, and stem cell harvests from patients in culturing these cells destroyed too order to obtain adequate numbers of many cells for re-infusion. Two cells for successful gene therapy. patients were infused with fresh gene- A gene therapy trial for FA-G corrected stem cells. One briefly patients is pending and scientists are showed signs of corrected cells in the preparing for a later trial of FA-C blood; the other did not. Investigators patients. Patients who wish more hope that examination of the bone information concerning these trials marrow in coming months will indi- should contact Robin Mueller, RN cate the presence of corrected cells. at (513) 636-3218 or A major challenge to gene therapy . ◆ Patrick Kelly, MD is the fragility of FA stem cells. Many

Fall 2005 5 Ear and Hearing Problems Common in FA Hearing disorders in Fanconi ane- makes it difficult to hear certain mia patients are far more frequent sounds. Therefore, early auditory than earlier medical literature has rehabilitation and speech therapy reported. Dr. H. Jeffrey Kim of the may be critically important to pre- National Institute on Deafness & vent the possibility that undetected Other Communication Disorders of hearing loss will interfere with the NIH reported on results of a normal speech and language devel- recent comprehensive examination of opment and overall school perfor- 12 FA patients for ear abnormalities mance. Management options for and hearing loss. hearing loss fall into three major Almost 50% of the patients categories, depending on the cause studied had mild and moderate hear- and extent of hearing loss and under- ing loss. Most of the hearing loss is lying health status of FA patients: “conductive” in nature while the 1. Auditory amplification through inner ear and hearing nerve function hearing aids; Jeffrey Kim, MD are mostly unaffected. Most of the patients (even those with normal 2. Surgical correction to widen the 3. Implantation of a hearing device ear canal and to address middle called “bone anchoring hearing hearing) had structural abnormalities ◆ in the outer and middle ears. These ear bone problems; and aids” (BAHA®). common structural changes include small eardrums and ear canals, and malformed bones in the middle ear. Gynecological Issues Reviewed Kim advised that FA patients undergo a thorough hearing evalua- Alicia Armstrong, MD, of the Reproductive Biology and Medicine tion by expert audiologists soon after Branch, NICHD, NIH, reviewed gynecological and reproductive issues facing the diagnosis of FA. If necessary, FA patients. For women, these include later onset of menses and premature computerized tomography (CT) menopause. Many experience irregular periods and excessive menstrual bleed- imaging can help diagnose potential ing. While women with FA have a shortened reproductive life and decreased problems. Mild to moderate hearing fertility, they can become pregnant. Pregnancy carries increased risks of C-sec- loss makes it difficult to detect tion, lower blood counts often requiring transfusions, low birth weight, and sounds with background noises; premature delivery, but these risks are medically manageable. decreases one’s responsiveness to Transplantation drastically reduces a woman’s ability to conceive a child. work and school environments; and Armstrong discussed embryo or egg freezing prior to transplant and ovarian shielding strategies as possible ways to overcome this complication. (Embryo freezing is more effective than freezing eggs). One strategy to preserve ovarian function is administration of the drug Lupron prior to transplant. This drug Practical Communication Tips inactivates the ovaries, making it more likely that ovarian function can be for Hearing-impaired Children maintained following transplantation. • Help your child develop the Finally, Armstrong noted the importance of habit of watching the speaker. screening the FA female patient for the increased risk of vulvar and cervical cancer. • Encourage your child to ask Regular gynecological exams including Pap the speaker to repeat infor- mation that was missed. smears and colposcopies (examining the vagina and cervix by means of a magnifying lens) • Reduce or move away from should begin from onset of menarche, sexual background noises. activity or at age 16. Breast cancer screening • Do not emphasize pronun- should include self and physician examinations. ciation as you speak. Speak Men with FA also have decreased fertility; clearly and slowly. many have zero sperm count. If sperm counts are not zero, in vitro fertilization or freezing sperm may increase the likelihood of fertilization. ◆ Alicia Armstrong, MD

6 FA Family Newsletter Head and Neck Cancer in FA Patients Your FA Research Dollars at Work in 2005 continued from page 4 Regular surveillance is crucial Through the end of September, 2005, the Fanconi Anemia Research to identifying head and neck can- Fund awarded $853,184 in research grants to the following projects: cers early. Surveillance should begin at age 10, and must be conducted by Investigator: Ruud Brakenhoff, PhD, Vrije Universiteit Medical Center, a physician with experience in identi- Amsterdam, The Netherlands fying and treating these cancers. Eval- Title: Genetic Progression of FA Squamous Cell Carcinoma and uation should include examination of Development of a Non-invasive Screening Method for Precursor the mouth, and flexible fiberoptic Lesions scope of the throat every six months. Amount: $265,800 Conditions such as leukoplakia (a white plaque which can’t be scraped Investigator: Laura Haneline, MD, University of Indiana School of off) and especially erythroplakia (a Medicine red plaque) are precancerous condi- Title: Preclinical Analysis of Potential Therapeutic Agents Targeted to tions and should be followed closely. Enhance FANCC-/- HSC Function Erythroplakia and persistent Amount: $176,813 leukoplakia must be biopsied. Treatment of these cancers in FA patients is complicated by patient Investigator: Susan Rose, MD, Cincinnati Children’s Hospital Medical sensitivity to radiation and Center chemotherapy. Kutler discussed eight Title: Thyroid Hormone in Children with FA patients who underwent radiation Amount: $47,687 therapy. All six who received this therapy after surgery experienced Investigator: Patrick Kelly, MD, Cincinnati Children’s Hospital Medical severe complications; three could not Center complete the treatment and two died Title: Gene Transfer for Patients with FA Genotype A of radiation exposure. Early detection and surgery remain the best Amount: $101,196 approaches to these cancers; radiation and chemotherapy should be used Investigator: Johan de Winter, PhD, Vrije Universiteit Medical Center, with great caution in very limited Amsterdam, The Netherlands circumstances. Post-treatment Title: A Knock-Out Mouse for Fancm surveillance is crucial. ◆ Amount: $96,000

Investigator: Holger Tonnies, PhD, and Heidemarie Neitzel, PhD, Institute for Human Genetics, Humboldt University, Berlin, Germany Title: Multi-Center Study for Correlating the Clinical Data with Clonal Aberrations in Mononuclear Peripheral Blood Cells of FA Patients Amount: $101,688

Investigator: Duane Lehtinen, PhD, and Thomas Hollis, PhD, Wake Forest School of Medicine Title: Crystallographic Studies of the Fanconi Anemia L Protein Amount: $64,000

Fall 2005 7 Harris Receives Lifetime Achievement Award The Board of Directors of the FA Research Fund voted to bestow the Fund’s Lifetime Achievement Award on Richard Harris, MD, for his many years of dedication to FA patients. The award was presented in August by Dave Frohnmayer, vice-president of the Board of Directors, at the FA Annual Family Meeting at Camp Sunshine. The site was particularly fitting because of Dr. Harris’s faithful attendance at this meet- ing each year, during which he has presented his bone marrow transplant results and visited with FA families in the informal atmosphere of the Camp. The Board of Directors has acknowledged the exceptional contribution of Dr. Harris in the area of bone marrow trans- plantation for FA patients. Because of his work, the odds of FA patients surviving transplants have increased and their quality of life post-transplant has improved. Equally important, the Board acknowledged that Dr. Harris has excelled in establish- ing strong relationships with his FA patients and their families. He clearly cares about his patients, and the Fund is deeply Richard Harris, MD receives Lifetime Achievement Award grateful for his commitment to them and to our cause. ◆ from Dave Frohnmayer.

Regional Meeting Held in New York City The Fanconi Anemia Research Fund convened a Regional Meeting at the Millennium Hotel in New York City on Sunday, June 3, 2005. Twenty-seven FA patients and family members attended. The event fea- tured presentations by a number of experts in FA medical care. Farid Boulad, MD, Memorial Sloan-Ket- tering Cancer Center (MSKCC), explained hematopoietic stem cell transplantation for FA patients, and Bhuvanesh Singh, MD, also of MSKCC, presented on the squamous cell carcinoma of the head and neck that affects so many FA patients. Speakers in the afternoon included Al Gillio, MD, who spoke on the medical issues faced by adult FA FA patients and family members listen to Farid Boulad discuss transplants. patients, and Daniel Smith, MD, who presented on gynecological FA Research Fund Fundraising The day concluded with a “Cop- issues. Both Gillio and Smith are Team Leaders Audrey Barrow, Randy ing with FA” session led by Nancy from Hackensack University Medical Bloxom, and Peggy Padden made an Cincotta, MSW, Mt. Sinai Medical Center. Arleen Auerbach, PhD, The excellent presentation to encourage Center. As always, this opportunity Rockefeller University, discussed FA families to raise money for much- to get to know other FA families bet- complementation group testing. needed FA research. ter was a highlight of the meeting. ◆

8 FA Family Newsletter FAMILY NEWS

Living with Fanconi Anemia by Paula Ceresa-Guidara My name is Paula Ceresa- mild to moderate to severe dysplasia. Guidara. I am married, and we have Additionally, I will be undergoing one child who is 12 years old. I am minor surgery in the near future for 51 years old and have Fanconi ane- some gynecological problems. mia. I have been teaching elementary I try to maintain good health by school for the past 29 years. washing my hands frequently and I do not know my complementa- getting an ample amount of sleep tion group or my mutation. This has although, being a night owl, I hate to not been of importance to me go to bed! I eat a healthy diet that because I have not needed this infor- includes all the food groups. I take mation to help with my care. I have supplemental calcium and vitamins. never had any marrow or blood I don’t smoke and only drink alcohol problems, but I have had numerous on occasion. I have a wonderful surgeries in my mouth for cancer and continued on page 17

Our Experience in a Clinical Trial by Krisstina King We first heard of the gene therapy final papers, we asked the clinical trial at Cincinnati Children's girls if they still wanted to Hospital Medical Center at our com- participate in the trial, and plete FA evaluation in January, 2004. they responded the same. During that visit and when we They had to take tests to arrived home, things looked grim for assure they knew all they FA kids. We talked about all the needed to make the decision. options. Along with Jo and Jacy, The advantages of this David and I decided that we really study are that we are wanted to give the trial a try. When improving the chances of a we asked the girls, they both cure, testing whether it is a responded, simultaneously, “If it does safe study, and allowing the not help us, maybe we can help the doctors trying to find a cure other kids.” That is when we decided the learning tools to proceed to move to Cincinnati. There would with greater knowledge. be so many appointments and close Disadvantages were none. Jo UNITED STUDIOS OF AMERICA ©2004 monitoring that we could have never did want to say one thing for Jo and Jacy King participated in the trial from Kansas. this article: “Remember not In June, 2004 we moved and to get your hopes up, because it is the doctors learn from each case, the began a series of appointments to dis- not yet a cure.” closer to saving lives we will be. The cuss the procedures, risks, new proto- We would and are planning to girls always say, “We may not save cols, and FDA status. Things kept participate in the trial again, as many our lives, but we will help save others moving forward and getting better. times as they will allow us. We feel and, besides, it is cool that we are Again, as we were ready to sign the that it can’t hurt to try and, the more making history.” ◆

Fall 2005 9 Ty Perkins Find Answers by Karen Magrath by Diane and Mark Pearl August 22, 2005, Day 61, and As parents we will do anything for barely a third of the way through our our children. As FA parents we are 6-month stay in New York City. destined and determined to Find That’s where we are in the transplant Answers. Quality of life is what you process for our son, Ty. live for, most of the time just to get The journey for me has been through each day. The following tips emotional: both draining and exhila- may help other parents alleviate small rating. From the nagging worry that frustrations. seems to accompany parenting a On a trip to Camp Sunshine in child with FA, even when things are Maine, we discovered the Golden good, to the utter realization in a Access Passport (www.nps.gov/ facility such as this that things could fees_passes.htm) that provides free be so much worse. From the wonder- entry into all National Parks in the ful friendships made and support Ty Perkins US. This pass is valid for life and is gleaned within the FA community to available to individuals with special the heart-wrenching anguish and dis- again negative. From everything Ty needs. Our FA children qualify. The couragement I feel with each loss and has taught us through his bravery pass allows your party in the “short- every set-back. From the relative and laughter to what we’ve been able er” pass line, which can save hours at health that steroids and anadrol to learn only through faith. From the a popular park such as the Grand afforded Ty for 6 years to his rapidly experience we realized life would Canyon during peak times. We have deteriorating condition just prior to never quite be the same nor mean the used the kids’ passes around 10 times, transplant. From the disappointment same thing for us. Draining and and now they think we should visit of finding out only weeks before exhilarating all at once. every national park in the country. transplant that our 10/10 donor was Ahhhhh, blessed we are (said in Similarly, you can request a “spe- unavailable to our relief at finding the infamous “Yoda-ese” Ty will be so cial needs pass” at theme parks such out that we would proceed with a pleased I snuck in here). We’re taking as Disney and Six Flags. Visit or call healthy 8/10 donor just weeks later one day at a time. ◆ ahead to Guest Relations to request than originally scheduled. From the this pass. Prior to making the trip, moment the donor’s cells arrived in contact your doctor and ask him or Ty’s room to 10 minutes later when her to prepare a letter stating your the entire transplant was completed. child has FA, should not spend pro- From the horrible side effects of longed time in the sun, has a com- chemo and radiation to the day Ty’s Editors’ Note and promised immune system, or what- counts started coming in and his rav- Disclaimer ever condition applies to your child. aged body started healing. From the Statements and opinions This pass, usually a wristband, will day Ty was finally discharged from expressed in this newsletter are allow you to use special entries and the hospital to the realization that those of the authors and not exits, thereby avoiding crowds and our journey was only just beginning. necessarily those of the editors dangerous germs. Many times the From being separated by so many or the Fanconi Anemia Research pass will also provide for special seat- miles and so much time from my Fund. Information provided in ing at the various shows. daughters and husband to racing this newsletter about medica- Getting to theme parks can pre- home from Clinic each day to see tions, treatments or products sent challenges. Several organizations them on the webcam, hear about should not be construed as including Dream Factory their day, and listen to bed-time medical instruction or scientific (www.dreamfactoryinc.com) and prayers. From the day we found out endorsement. Always consult your physician before taking any action Make a Wish (www.wish.org) can Ty’s CMV (cytomegalovirus) was based on this information. provide airfare and hotel rearing its ugly head to TODAY accommodations to defray the costs when we found out his CMV is continued on page 11

10 FA Family Newsletter Attending Our First Family Meeting by Janice Pless Our first experience at Camp I personally was feeling Sunshine this year can be summed very ambivalent. Did up with one word: AWESOME! we really need to come That’s what our daughter, Julia, has here at this time? We been telling everyone who asks her had acquired most of about Camp. Our older daughter, the medical informa- Victoria, feels the same way and defi- tion about FA from nitely wants to return next year, even my husband attending though it means 12 hours of driving. the clinical meetings, We all felt anxious about the first reading the publica- day. We didn’t know what to expect. tions put out by the FARF, and talking to FA medical specialists two years ago when we Find Answers were faced with the continued from page 10 diagnosis. At the time, Julia was in complete of a special trip for a critically ill bone marrow failure, child. Re-circulated air on commer- and we had to proceed Julia Pless and Tom, the camp counselor cial flights can also be a concern for to transplant as soon as children with poor immune systems. possible. Now that she Angel Flight (www.angel-flight.org) was post-transplant and stable, per- Finally, I realized that the most is a group of pilots who donate their haps coming to Camp wasn’t a prior- important gain of all was the support time and airplanes to take children ity for us. What could we gain? and understanding of people who and families on special trips and/or Camp Sunshine is a very peaceful, knew exactly how I felt and what I medical visits in the United States. beautiful, and serene place. So, the was going through: a new family, my In addition to these special pro- first thing we gained was a sense of FA family. I had a safety net I could grams, we have had positive experi- relaxation. We all immediately felt fall into and be caught! ences with airline managers who comfortable and secure. I didn’t Everyone comes to Camp with a have been willing to reduce other- think twice about who was caring for different story about their experience wise prohibitive fares, waive fees, my girls because all the volunteers so far with FA. Everyone is in a dif- allow frequent flyer usage on black- and staff were so warm, friendly, and ferent place in dealing with FA. But, out dates and make seats appear out kind. I just trusted them to take good we all share in the realities and of nowhere. Security post-9/11 has care of my kids. Their days were tragedies of living with FA every day. been increased at most airports. A filled with new friends, adventures, My husband said he felt “refreshed” letter from a doctor explaining that and loads of fun activities. They after having attended Camp Sun- your child has FA can help your loved every single minute. shine, and I feel the same way. Camp family avoid the crowded, germ- The first day for the adults was has given us a brief respite from overloaded lines and get through very fast-paced and overwhelming, which we have come away feeling much faster. Ask to board early to especially emotionally, and this con- empowered and inspired to continue avoid the crowd during general tinued for three days. I am very grate- with life, knowing that we have this boarding. This provides the oppor- ful for the opportunity to listen to all special family to come “home” to tunity to wipe down the germ-filled the presenters. There is always some- next year. ◆ seats, trays and arm rests. thing we can learn to help our FA Remember that FA stands for children medically. We also appreci- Find Answers: it never hurts to ask. ated hearing about the progress being The worst thing that can happen is made in FA research. This gives us that you can be told “no.” ◆ hope for a positive future.

Fall 2005 11 Enjoying the 2005 Family Meeting at Camp Sunshine

Annual FA Family Meeting continued from page 1 siblings. The kids all reveled in fun, from the Masquer- ade Ball to the Talent Show, the climbing wall, the putting green, the camp-out, and the campfires. For the parents and adult FA patients, the Family Meeting provided an exceptional opportunity to hear from experts about treatments for and research into the many medical challenges that face FA patients. Hema- tologists discussed bone marrow transplantation, and oncologists discussed the high risk for head and neck and gynecological cancers in FA. Other professionals presented information on gene therapy research, ear and hearing problems, pre-implantation genetic diag- nosis, and endocrine problems in FA. Although the information was exceedingly welcome, it was also over- whelming and often frightening. Fortunately, Nancy Cincotta, MSW, made herself available through many “coping with FA” sessions, so that parents could debrief what they heard, express their concerns, and receive support from Nancy and one another through this journey that is FA. Camp Sunshine Chipmunk and Bear welcome Amelia Bennett to Attendees evaluated the meeting and made many Camp Sunshine. constructive suggestions. All expressed their apprecia- tion at being able to attend the meeting. ◆

Father and sons prepare to launch their Wish Boat. Michelle Ploetz and “Pooh”

12 FA Family Newsletter “Hard to see how this could be improved! It seems just ideal and exceptionally well run and welcoming.”

Donna Boggs, Maria Godwin, and Kayla Lackey at the Banquet

“Love to be here, educational and exciting. Good to see other parents and kids struggling with the same things as yourself. It made us happy, too, in the way that there are so many people helping and supporting patients with FA. The volunteers are exceptional and so is the Camp Sunshine staff!”

Fast friends.

“I love Camp Sunshine! It is a great place to have this family meeting. The kids had a great experi- ence. We look forward to coming back.” “This is an excellent location…. The entire arrangement in its nutshell time period was excellent.” “I appreciate the event. Thanks!”

FA parents and adults pay rapt attention to a medical presentation. FA teens and friends enjoying each other’s company.

Fall 2005 13 Grandma and Grandpa Go to Camp by Jeanne and Stuart Altman Going to Camp Sunshine for the thrived with the many Family Meeting felt in advance like a wonderful age-based step into the great unknown, with camp activities with both perceived benefits but also great risks. FA kids and “unaffected” Our 2-year-old granddaughter Nina’s siblings. By the end of diagnosis was only a few months old. the first day, he had Jeanne’s initial thought was that planned what he’d be Nina’s parents, Rachel and Tyler, able to do next year when probably wouldn’t want to consider he’d be in the group that Camp until another year. Dr. could learn archery, use Blanche Alter strongly urged other- the climbing wall, and wise, and we offered to help Rachel if have one overnight cam- she decided to go to Camp with the pout! Because Nina and kids and Tyler wasn’t able to. Very Benjamin were so well shortly, they were all signed up for cared for, we were able to Nina Morrison and her parents having fun at Camp Camp. We both planned to go, par- attend most of the lecture ticularly to be available for help with presentations. small group discussions. What a Nina, who had never had a day care We had previously devoured most unique resource, especially for par- experience, and her 8-year-old sibling of the great FARF newsletters and ents! Other highlights included the Benjamin, who might react with other publications and had also read high level of energy that both great difficulty to this potentially a lot of the technical literature. But researchers and families seemed to overwhelming experience. the presentations were still valuable, draw from each other. We enjoyed The kids were the first great sur- as reviews, updates, or fresh informa- the relaxation of an atmosphere in prise: instant success! Nina was in the tion. And, the special value of these which one didn’t need to explain wonderfully nurturing environment presentations was the ongoing acces- one’s situation to anyone. The same of the infant group, and Benjamin sibility of speakers for individual or was true for the kids, whether sibling or FA: the natural and planned opportunities for kids to open up and, also, to develop healing perspec- tives for their family situation. It’s Two New FA Genes Isolated York laboratory of Arleen Auerbach, difficult to say enough good about continued from page 1 PhD and Marieke Levitus, et al., in the caring and energy that were the Amsterdam laboratory of Hans brought by the Camp Sunshine vol- complex” that includes the A, B, C, Joenje, PhD. This J protein acts unteer and permanent staff. We E, F, G and L proteins, and which is independently and downstream of might summarize our impressions of essential for the monoubiquitination the FANC “core complex” and is the FARF and Camp staff in three of the FANCD2 protein. This mech- implicated in the repair of damaged words: thoughtful, compassionate, anism, still poorly understood, is cru- DNA strands. and informative. cial for recognition and response to While at least one more FA gene, If we sound like cheerleaders, it is DNA damage. Other organisms have FANCI, remains to be isolated, these perhaps because, as tough, exhaust- similar functions to FANCM, mak- recent developments advance FA sci- ing, and sobering as the experience ing this gene of significant scientific ence; make it clear that this science is was, it was not the trade-off we imag- interest. closely associated with understanding ined—it was powerfully good! The FANCJ protein (also called cancer generally; and hasten the time Knowing the many reasons, fears, BRIP1 and BACH1) was isolated when the crucially important and exhaustion that might lead oth- as a previously discovered DNA- processes of DNA repair biology are ers to hesitate about attending Camp, unwinding enzyme (helicase) in stud- understood and harnessed for thera- we can’t encourage them too strongly ies by Orna Levran, et al., in the New peutic purposes. ◆ to do so. ◆

14 FA Family Newsletter Attending the Family Meeting by Rachel Grossman Despite the fact that we have been On Saturday, we sat through a ses- living with this disease for so long, sion for post-transplanted families. this was our first time at Camp. Several families who had attended Jacob was transplanted three years Camp before noted that it was nice ago this past July. He continues to to see so many post-transplant fami- have many significant issues that are lies and their children. We were able unrelated to transplant. He eats sole- to express our current feelings. Lis- ly with a g-tube, will eventually need tening to others was invaluable dur- a new kidney, and has a myriad of ing that session. other issues. We didn’t go to Camp Talia, our eight-year-old daughter, in the past for many reasons, which sat with other siblings and discussed included some resistance from my how she felt living with a brother husband. We came as a family this with FA. Jacob was mad at first that year and found that we are not alone. he had to be with other FA children, There are others just like us, post- but then enjoyed the weekend so transplant with continued issues. much that he discussed his experi- We arrived at Camp to meet a ence at school. He doesn’t discuss his whole host of wonderful people who feelings much, but he ended up feel- all want the absolute best for their ing at home at Camp. children. There was fun the first Because we were post-transplant, FA parent Alan Grossman in a great karaoke night with a get-to-know-you activi- we did not attend all of the sessions. performance at the Family Meeting! ty. It was a good taste of fun before We sat through both of the cancer the emotions started the next day. sessions, and I felt that the floor was going to drop out from underneath me. My head was swirling, even though I only received part of the information that new families learned. I felt overwhelmed with the information; yet, I was able to see comfort in the families around us. It was difficult to see children affected with this disease cry and worry about their future and that of their siblings. It was overwhelming to hear of the plight of others, yet com- forting at the same time because we are all in the same “club” together. Despite the emotional roller-coaster, it was worth every second of the time that we spent at Camp and, the minute that we left Camp on Mon- day, we were already discussing next year. We have found lasting relation- ships that will be valued for years to come. We look forward to our future Camp experiences. ◆

Talia and Jacob Grossman

Fall 2005 15 In Memory of Emily Elaine “Firecracker” Clark by Jeanette Clark I am honored to write about a truly amazing person, my cherished daughter, Emily Elaine Clark. How can you put into a few paragraphs the “firecracker” personality of such a spirited person? From the day she was born, February 5, 1994, to the day she graduated, May 1, 2005, we all—family, friends, strangers alike— have been blessed with the on-the-go, spunky, let-nothing-stop-you person- ality in Emily. Her friends ranged in age from toddlers to the elderly. No matter. She accepted people for who they were. We were blessed in know- In Loving ing that, although she was tiny and Emily Elaine “Firecracker” Clark had to monitor foods, nothing could stop her. Size didn’t matter: the big- about the recent scientific findings ger the kids, the more she wanted to Memory of exactly that. deal with them. From her natural operatic rendi- We didn’t hear of FA until April tion of “Over the Rainbow” to her 20, 2004, when Emily wanted to try artistic drawings, flute playing, drama, growth hormones; her friends were Davaan McDuffie and love of shoes, we will always really getting ahead of her. On May 12/16/02 – 4/6/05 remember her as “Our Little Angel.” 20th, FA was confirmed. Looking In her last weeks, she wanted back, I realize we were fortunate to Kelly Clarkson’s CD “Breakaway.” I have Emily with us far longer than Emily Elaine Clark heard it and cried. She was so aware the statistics say. I noticed bruising and made the most of life. The day 2/5/94 – 5/1/05 when she was five years old, and her after she passed away, we heard all of California tan stopped when she was her favorite songs on the car radio eight. No one knew why. and saw the most beautiful full rain- Leardon Keleher Fanconi anemia was a tremen- bow ever. dous shock and a challenge. The 2/11/62 – 5/30/05 Thank you, Emily, for sharing challenge was to learn about FA and your life with us. We’ll always be to continue living a normal life with- together and, until we see you again, out letting others focus on FA before we’ll honor your memory and keep they focus on Emily. We defied the you near. You’ll never be forgotten. statistics and stared FA in the face. I We wish all the FA families courage, truly believe that Emily knew her love and encouragement. ◆ physical life was ending, and she did everything she could to help us cope. She knew things that I can’t explain. One thing she told me was that I named her Emily, instead of Daniel- la Rose (dear friends are Danielle and Rose) because she’s “Em” for FANCM. I am now stunned to learn

16 FA Family Newsletter The Vangel Family IVF/Preimplantation Genetic Diagnosis by Mike Vangel continued from page 3 My wife, Beth, and I have two RGI has performed PGD for 110 children, Amy (14) and Dennis (8). different genetic conditions. A total Both Amy and Dennis have Fanconi of 447 patients have gone through anemia. We had never heard of the 756 fertility cycles, and embryo disease until Amy was diagnosed transfer occurred 663 times. RGI has with it at the age of four, when she transferred 1290 embryos, resulting had very low platelet counts. For in 244 pregnancies. Thirty-five per- almost 7 years Beth and I gave Amy cent of embryos transferred resulted two injections every other day of in pregnancy. To date, 212 babies Epogen and Neupogen to keep her have been born. blood counts up, until finally she was Seven FA families have worked not getting any benefit from the with RGI to achieve a healthy preg- drugs. She needed to go to transplant. nancy. These families experienced 18 Even with the millions of people Amy and Dennis Vangel IVF cycles. In total, twelve embryos in the bone marrow registry, we could were transferred to the mothers not find a marrow match. Three years hospital stay. Even with the improved resulting in five pregnancies. Four ago, on September 6, 2002, Amy had outcomes, we’ve seen other families healthy babies have been born an unrelated, 5/6 HLA matched bone who have lost children while going (including one set of twins); one marrow transplant at Fairview Uni- through the transplant process. We mother is still pregnant, and one versity Hospital in Minneapolis. It beat the odds once: can we do it pregnancy resulted in a miscarriage. was a hard decision to make, but again? We hope that when it comes The average success rate for FA par- Amy is a spunky kid and she is doing time for Dennis to be transplanted, it ents has been ~25% per cycle. Much well now. Her recovery, though, took will be a less painful and less lethal depends on the age and fertility char- well over a year. treatment. And, we hope that, for acteristics of each couple. It is hard to look at Dennis, both of our children, medical research Preimplantation genetic diagnosis knowing that a transplant is almost can find a way to treat and possibly is expensive, and insurance is unlike- certainly in his future. We have seen prevent the solid tumor cancers of the ly to assume the cost. After an initial firsthand the rigors of Amy’s trans- head and neck that FA patients are set-up fee ($3,500-$5,000 if only the plant and the subsequent complica- 700% more likely to develop than the ◆ health of the embryo is considered; tions that can arise from a lengthy general population. an additional $4,000 if the study will include HLA testing), the cost is approximately $20,000 for each Living with Fanconi Anemia or on my body and immediately reproductive cycle. continued from page 9 report them to the doctor. I get Renee Genovese can be reached check-ups about every three months at: family that is extremely supportive in with my gynecologist, oncologist, Reproductive Genetics Institute all aspects of my life. I try to live my dentist, and general practitioner so 2825 N. Halsted life by not dwelling on the negative that when I, my doctor or dentist sees Chicago, IL 60657 and taking care of any health prob- anything suspicious, it can immedi- Phone: 773-868-2166 lems at hand and then moving on to ately be evaluated or the area in ques- Fax: 773-871-5221 enjoy all the good that life has to tion can be biopsied, if necessary. I Email: [email protected] offer. often have my doctors or dentist con- www.reproductivegenetics.com ◆ Sometimes though, even when fer with a Fanconi anemia expert. you feel like you are doing all the The sooner you can discover a prob- right things, something goes wrong lem, the better chance you have to and you start having health prob- make a good informed decision lems. What has worked for me is to about your health. That will help you keep close watch for any changes in to have a better quality of life. ◆

Fall 2005 17 One of Two in a Million by Ben Murnane I usually don’t read this newsletter. Between the summer and autumn The Irish Times a number of years The collection of tearful eulogies and of 2001, I spent twelve weeks in the ago, I wrote: “It’s funny, but one of movingly hopeful essays it contains is transplant unit of St. John’s Ward, the great teachers in life is serious ill- often too much heartbreak to take, Our Lady’s Hospital for Sick Chil- ness…. I can’t imagine myself with- for someone still living with the daily dren, Crumlin, Dublin. The day of out this illness; I’m sure it has influ- burden of having Fanconi anaemia. my release from hospital is one that enced my personality in so many I was diagnosed with FA in 1994 still burns in my memory. It is a day, small ways. Without being sarcastic, at the age of nine, too young to I’m sure, that everyone reading this it does give you an insight into contemplate the tough times that recalls—though for a radically differ- human suffering, and hopefully lay ahead. I was prescribed the ent reason than mine: September 11, influences you for the good.” steroid oxymetholone and had a 2001. I stand by that sentiment. Fan- Broviac catheter inserted into my Since that date, the path of my coni anaemia, like any life-threaten- chest. But, all I knew was that I got recovery has not been entirely ing disease, wreaks horrors on indi- to stay at home and watch cartoons unblemished; yet, it has been viduals who never deserved them. while the other kids went to school, smoother than anything that went But, it can also be a catalyst toward since my blood counts were danger- before. After missing a year of sec- the profoundly good, as this commu- ously low and I had to be kept in ondary school, I went back and did nity of supporting families itself semi-isolation. my final exams. I’m currently attend- proves. In place of the lacklustre, seri- My troubles with FA came and ing college, studying drama. For now, ous illness can give rise to over- receded over the next six years, like at least, I’m free of the extreme effects whelming determination and drive; the tide lapping against the shoreline. of Fanconi anaemia. And, today, in place of taking life for granted, it But, hardly a day went by when I death at the hands of this illness can substitute a deep respect for the didn’t feel shot, fatigued to the point seems a wholly conquerable prospect. value of each human being. of utter exhaustion. In the summer The above account could barely I know I shall never be totally lib- of 2000, I learned that the prolonged even be described as an outline of my erated from the worries of Fanconi use of oxymetholone was causing experiences with FA—a disease anaemia. Yet, I come back to this growths to form on my liver: I was to which does not define me, but is as newsletter, and I read about others be weaned off the drug immediately. much a component of who I am as who have struggled through the I became dependent on blood trans- any aspect of my life. There’s so toughest times of this disease. I can’t fusions then and spent some months much more I want to tell, so much but be struck by the raw and humble injecting myself with that curse of more I want to share. That’s why, for courage of FA patients. I read about the cycling profession—EPO— the past year and a half, on and off, how even those who have lost loved before I had to decide whether to I’ve been trying to write a book, not ones to FA vow they will be better undergo a bone marrow transplant. solely about living with FA, but people because the illness has been Without a BMT, I would certainly about my time on this earth thus far, part of their lives. die within two years. But if the during which FA has played a signifi- Almost everyone reading my piece transplant proved unsuccessful, I cant role. The title of my little mem- will have been affected by Fanconi could be dead within a few months. oir is Two in a Million, which, if I’m anaemia in some way. You have suf- Moreover, I had to choose whether to correct, is the approximate statistical fered and coped, and have been have my sperm frozen, as after the incidence of Fanconi’s in the general brought to laughter and to tears by radiotherapy necessary for the trans- population. I’m continuing to work this disease. In the hardest periods plant, the chances of my being able on the book, and my wish is to ahead, you have every reason to stand to father a child naturally (already attempt to get it published some tall. You are your own inspiration. ◆ dramatically reduced by FA itself) time over the next two years. I hope would surely be devastated complete- you will read it when it comes out! ly. These didn’t seem like the kind of And, if anybody knows a good pub- decisions I should have to make at lisher, feel free to e-mail me…! fifteen years of age. In a short article that appeared in

18 FA Family Newsletter FUNDRAISING

The Himmelreich Family Hits the Ground Running We would like to take this opportunity to intro- duce ourselves. We are Peter and Tara Himmelreich, and we reside in Pennsylvania with our two daugh- ters, Emily, age 3, and Megan, who just turned one year. Last summer, we became a part of the Fanconi anemia family when our second-born was diagnosed with FA. Despite our overwhelming feelings of sad- ness, grief, and hopelessness, we quickly became aware of the severity of the disease and the effort we needed to make to help find a cure. In March, we kicked off our fundraising cam- paign by hosting our first annual Beef n’ Beer bene- fit. We felt confident that our event would be suc- cessful, but had no idea that, in one short evening, we would raise almost $16,000 for the Fund!!! We started by renting a hall, caterer, and a DJ. We sent out invitations to our friends and family and the response was truly overwhelming! Donations were Tara and Megan Himmelreich solicited from local businesses and corporations for a raffle and silent auction. We were thrilled with the response we received from the community! “Ask, and you shall receive.” (Believe in it!!) The night was truly amazing and lots of fun. We have already been asked if there will be a Beef n’ Beer this year. You can count on it! ◆

Mont Blanc Again by Mai Byrne Living with Fanconi anaemia can generated support among family and He was right. Calvin Torrans and be a positive driving force. It has friends for a number of fundraising Ian Rea, qualified mountain guides succeeded in driving me, my hus- ventures over the past eleven years, and friends of ours, agreed to lead us band Des, and some friends to the from BBQs to bag packs to spon- on the “Mont Blanc Traverse” (those top of Mont Blanc twice in the last sored cycles and walks. In 1995, we of you who know Mont Blanc will ten years! climbed Mont Blanc for the first understand the difference between We have been living with FA for time and raised around US$30,000, Mont Blanc and the Mont Blanc eleven years. Two of our children, which was split evenly between the Traverse). Dave Fleming, an employ- Ben (20) and Jess (15), were diag- FA Research Fund and Our Lady’s ee of Des’s, and Ken Byrne, our nosed with this insidious life-threat- Hospital for Sick Children in Crum- friend, also agreed to come along. ening disorder. Ruth (17) does not lin, Dublin, Ireland. When Des sug- Des was positive, determined, and have FA. After the initial blinding gested in 2004 that we do a second fit. I was sceptical, wavering, and terror and searing pain of this diag- sponsored Mont Blanc climb, but unfit, but said I’d climb nevertheless. nosis, we determined to be proactive this time undertake a harder route, I The plan was to invite friends, family in raising funds to further research protested—too tough, too long, too and acquaintances to sponsor the toward a cure. much organisation! However, Des “expedition.” Des was the driving The presence of FA in our lives persisted. continued on page 24

Fall 2005 19 Chris Hull Memorial Sigma Pi Open Charity Navigator by Andy Harner Awards the Fund Its The early morning of Highest Rating Saturday, June 11, 2005 America’s premier independent found 50 fraternity broth- charity evaluator, Charity Navigator, ers, family members, and has awarded the Fanconi Anemia friends of the late Christo- Research Fund its highest rating, pher Hull lined up in golf Four Stars. carts ready to begin the 6th Charity Navigator helps charita- Annual Chris Hull Memor- ble givers make intelligent giving ial Sigma Pi Open. Since decisions by providing in-depth, losing Chris to his lifelong objective ratings and analysis of the battle with FA, his fraternity financial health of America’s charities brothers of the Theta Chap- in the areas of fundraising efficiency, ter of Sigma Pi Fraternity fundraising expenses, program have annually sponsored a expenses, and administrative expens- golf tournament in his Chris Hull, far left, with fraternity brothers Andy es. According to Charity Navigator, memory. Funds raised from Harner, Joel Cliff, Scott Bennett, and Curt Spangler “charities that are efficient spend less the tournament benefit the and spouses enjoy the day prior to the 1994 Rose Bowl. money to raise more. Their fundrais- FA Research Fund. ing efforts stay in line with the scope In addition to the tournament of the programs and services they registration fees, the fraternity has as a “Chris”-mas tree, complete with provide. They keep administration found unique ways to raise extra battery-powered twinkle lights, orna- costs within reasonable limits. They money for the FA Research Fund. ments and pine-green tights. During devote the majority of their spending Over the past few years, week-long his years in the fraternity, Chris Hull to the programs and services they stays at golf resorts have been raffled lived life to the fullest, experiencing exist to provide.” at the event. Another popular fund- all that Penn State and Sigma Pi had In earning Charity Navigator’s raiser has been the auctioning of Penn to offer. Fraternity members are highest Four Star rating, the Fund State vs. Ohio State football tickets. pleased to have been able to donate has demonstrated exceptional finan- As a freshman at Penn State in the over $25,000 during the past six cial health, outperforming most of its fall of 1984, Chris joined Sigma Pi as years to the FA Research Fund, in peers in its efforts to manage and a pledge, or associate member. One Chris’ memory. The tournament will increase its financial assets in the of the reasons that Chris chose Sigma return again next year, in early June, most fiscally responsible way possi- Pi was that his older brother, Jeff, to the Penn State Blue golf course in ble. had also been a Sigma Pi member. State College, PA. ◆ The FA Research Fund is proud Fellow members recall Chris as an that its outstanding record of fiscal active, involved member of the chap- responsibility has placed us in this ter. Favorite memories include Chris elite Four Star group. Administrative as being a “big brother” or formal Use of Logo costs of the Fund have consistently mentor to a large number of younger been far below average for similar men, during their pledge semesters. A reminder to our FA families: organizations. The Fund’s 2004 Chris was a trusted advisor and con- please use our logo or letterhead annual audit documented that its only after you have consulted the fidant who encouraged his “little staff of the FA Research Fund and administrative costs were 3.64% and brothers” to work through the long received their approval. This is fundraising costs were 2.77%, for a hours and hard work of the pledge necessary to be sure our messages combined total of 6.41%. These period, just as he had done. are accurate and consistent and results are exemplary by any stan- During the golf tournament helps to avoid legal complications. dard. Donors to the Fund can be weekend, stories about Chris are We are happy to collaborate on confident that their donations will be always told and re-told, such as the fundraisers and mailings. spent strategically to advance critical- Halloween party where Chris arrived ly-needed FA research. ◆

20 FA Family Newsletter Coley’s Cause Memorial Golf Tournament by Kristin and Todd Levine When we lost our precious Nicole (“Coley”) in October 2004, we were determined to create an annual Fanconi Anemia fundraising event that could serve two purposes: to bring family and friends together once a year to honor the memory of our beautiful, courageous and spirited daughter, and to raise aware- ness and much needed research funds for FA. With her birthday set in the heart of golf season, we decided to establish the annual Coley’s Cause Memorial Golf Tournament. Having never organized an event like this, we nev- ertheless jumped in with both feet and charged for- ward with the help of many friends and neighbors. Within weeks of announcing the tournament, we had Todd and Kristin Levine with Amy Vangel in the middle. a full field of 144 registered golfers, and the sponsor- ships and donations were flowing in. Some of the key things we did to make the event a success were: • Establishing a website (www.coleyscause.com) to Fundraising Assistance inform people about FA and Nicole’s journey, as well as to ease registration and sponsorship transac- Did you know that 85% of the donations to the tions and to provide a space for sponsor advertise- FA Research Fund are raised by FA families? Obvious- ments. ly, we need the efforts of everyone who reads this newsletter! •Enlisting friends to solicit local business through The staff of the Fund stands ready to assist you personal contact and/or mass mailings (with infor- with your fundraising efforts. We’ll help you write or mation about Nicole, FARF, and sponsorship edit your fundraising letter; photocopy it; provide the opportunities). postage; and mail it from our office, using your mail- •Offering multiple levels of sponsorship, from $75 ing list. If you’re going to hold a fundraising event, to $1,500. We got eight $1,500 donations! we’ll provide similar help. Fundraising help is also • Conducting a raffle and silent auction after the available through the FA Fundraising Team leader in tournament. your area. The FA Research Fund asks FA parents to make •Holding on-course “chance” contests such as hit- certain that any event they hold is covered by liability the-green, long drive, and putting contest. insurance. Coverage for a one-time event is often The end result of this labor of love was a fantastic available through a family’s homeowners insurance as tournament that raised over $30,000 for Coley’s a relatively inexpensive insurance rider. Please con- Cause—of which $25,000 was donated to FARF. tact the Fund if you need assistance obtaining or pay- We’re hoping for at least a 50% increase in proceeds ing for this required insurance. for next year’s tournament. Most impressively, every When a donation is received, we’ll send a letter of attendee made a point to tell us to sign him or her up thanks from the Fund with a tax receipt, and we’ll for next year! notify you that a donation has been made in your We would be happy to talk to anyone who has or is name. One request: Please ask your donors to write thinking of planning a similar tournament to share their donation check to the “Fanconi Anemia more details on our successes and on lessons learned Research Fund.” ◆ from our inaugural event. Our sincere thanks go to all of you for your efforts to raise funds to combat this devastating disease.

Fall 2005 21 Family Fundraising Efforts

From January 1 through August 31, 2005, FA families raised $674,372 for Fanconi anemia research. The Fund also received donations of $7,681 through the United Way and $4,993 through the Combined Federal Cam- paign. For years, Lynn and Dave Frohnmayer have raised the vast majority of funds to advance FA research, compared to all other FA families (69% vs. 31% in the year 2000, for example). However, by 2004, through the determined efforts of over 100 FA families, that percentage has changed to 45% vs. 55%. All other FA families now raise slightly more funds than the Frohnmayers! We thank all of you who have worked so hard to raise critically needed research dollars while simultaneously spend- ing countless hours dealing with the personal anguish of Fanconi anemia. We are extremely grateful for each effort. We must continue this momentum to meet our 2005 fundraising goal of $2.2 million. We’re confident that, with your help, we can do so. Members of the staff of the Fund will be happy to help you with your fundraising efforts, as will the leaders of the FA Fundraising Teams. FA families who have raised funds so far in 2005 are the following:

$100,000 and up Jack and Lisa Nash Rick and Lynn Sablosky Dave and Lynn Frohnmayer Mark and Susan Trager Bob and Andrea Sacks Mike and Beth Vangel Bill and Connie Schenone $50,000 to $99,999 Irwin and Leona Selden John and Audrey Barrow $1,000 to $4,999 Michael and Kim Williams John and Kim Connelly Ken and Jeanne Atkinson Sean and Kristin Young Alan and Rachel Grossman Cherie Banks Glen Shearer and Peggy Padden Darryl Blecher and Diana Fitch Up to $999 Randy and Nancy Bloxom Andrew and Vicki Athens $25,000 to $49,999 Mike and Kerrie Brannock Mark and Linda Baumiller Peter and Tara Himmelreich Donald and Danielle Burkin Roger and Annette Bevelhymer Todd and Kristin Levine David and Kim Chew Paul and Tracy Birchall Donna DellaRatta Michael and Diane Bradley $20,000 to $24,999 Pat and Mary DiMarino Richard Briga Mark and Diane Pearl Antonino and Marie DiMercurio Floyd and Susan Clark David and Mary Ann Fiaschetti Jeanette Clark $15,000 to $19,999 Allan Goldberg and Lori Strongin Tyler and Teresa Clifton Jeffrey and Donna Boggs Andrew and Jennifer Gough Bill and Pat Danks Tanner and Jessica Lindsay John and Martina Hartmann Dottie Day Des Murnane and Mai Byrne Jeff and Beth Janock Charles and Dahne Deeks Lila Keleher James and Carol Dillon $10,000 to $14,999 Erik Kjos-Hanssen and Turid Frislid Nathan and Ann Eckstadt Stuart Cohen and Deane Marchbein Lynette Lowrimore Gene and Lynn Eddy Brian Horrigan and Amy Levine Fred and Nancy Nunes Sharon Ellis Reese and Nancy Williams Steve Perkins and Karen Magrath Frederic Engel Tyler Morrison and Rachel Altmann Wendy Epps $5,000 to $9,999 Tony and Lina Nahas Carol Felmy and Michael Glas James and Tracy Biby Robert and Mary Nori Stephen and Doreen Flynn Chris and Susan Collins Derek and Ginger Persson Nanette Vannostran Foster Ed and Janice Duffy John and Dianne Ploetz Gary and Melody Ganz Charles and Katy Hull Pedro and Marina Ravelo Cindy and Brian Gaudet Kevin and Lorraine McQueen Marcia Reardon continued on page 23

22 FA Family Newsletter Family Fundraising Efforts continued from page 22 How You Can Help Pat and Maria Gleason Maria Godwin Your donations have helped move this fatal disease from an Michael Greenberg orphaned status in 1989 to a disease with treatments that now buy pre- Sean and Helen Healey cious time for FA patients. As the genetic basis of Fanconi anemia con- Roger and Eleanor Herman tinues to be deciphered, your donations are also having an impact on Jeff and Judy Hoffman the lives of millions in the general population. We continue to move to the mainstream of scientific interest. To help us in this fight, consider John and Karilyn Kelson these ways to donate: Robert and Jennifer Kiesel Krisstina King Gifts to celebrate an occasion: If you are celebrating a birth, a birth- Ayala Laufer day, an anniversary, a graduation, a marriage or other gift-worthy Eugene and Renee Lemmon event, consider asking that donations be made to the Fund in honor Peg LeRoux of the reason for the event. Michael and Myra Lewis Gifts to commemorate a loved one: Families who have lost a loved Larry and Gayle Kicari one may ask that a donation to the FA Research Fund be made in Dan and Nikki McCarthy memory of the deceased individual. The Fund has received many Steve and Allison Mcclay thousands of dollars from caring people who have responded to Kevin and Barbara McKee obituary announcements. Gianna and Lauren Megna Bequests: If you are preparing or reviewing your Last Will and Testa- Charles and Cecilia Meloling ment, consider making a bequest to the Fund. Adam and Olivia Mindle Matching Gifts: Many employers will match the charitable gift of an Griff and Cecilia Morgan employee. This is an excellent way to double your donation. John and Betty Mozisek Sheila Muhlen Gifts of Appreciated Property: Donors who have property that has gained greatly in value (stock, vacation homes, art items, etc.) can Kenny and Lisa Myhan avoid tax liabilities and convey enormous support by gifting this Louis and Virginia Napoles property to the Fund. Please contact us for helpful advice and sug- Freddy and Kathy Pharris gestions. Tom Plummer Lynn and Shirley Quilici United Way or Combined Federal Campaign: If you work for Jack and Tannis Redekop an organization covered by either of these organizations, consider making a donation via your workplace and asking your colleagues to Les and Nancy Ross do the same. Thomas and Brenda Seiford Bryan and Karen Siebenthal Donations Online: Look for the PayPal button in the Donations sec- Jim and Carol Siniawski tion of our web page (www.fanconi.org) Greg and Brandi Stuart Donations by Telephone: Call us at (541) 687-4658 or toll free at Marc and Sandi Weiner (800) 828-4891. Marge Zaborney Donations by Mail: 1801 Willamette Street, Suite 200, Eugene, OR 97401.

Fall 2005 23 Mont Blanc Again We raised over US$36,000, and, continued from page 19 once again, the funds were evenly divided between the FA Research force. He organised the invitational Fund and Crumlin Hospital, where letter and sponsorship card, and Drs. Finn Breathnach, Ann O’Meara, wrote to all his clients. Dave and Ken and Aengus O’Marcaigh have been were sponsored by their friends and our medical saviours. It was in family. I also appealed to companions Crumlin, under the direction of Dr. and work colleagues to provide finan- O’Marcaigh, that Ben underwent his cial support for my endeavour. matched unrelated bone marrow 1801 Willamette St., #200 Our motley crew climbed Mont transplant four years ago. Eugene, OR 97401 phone: (541) 687-4658 Blanc du Tacul, Mont Maudi, and The novelty of our fundraising (800) 828-4891 (USA only) eventually arrived at the summit of extravaganza excited interest and FAX: (541) 687-0548 Mont Blanc itself, exhilarated, one awakened enthusiasm to a degree e-mail: [email protected] morning in August 2004—having that might not otherwise have been web site: www.fanconi.org walked continuously for 24 hours, the case and, thus, generated greater Newsletter Editors leaping over bergshunds, wielding ice financial support. So, if you have a Lynn & Dave Frohnmayer axes, and hauling ourselves up steep, fundraising idea that seems off the Mary Ellen Eiler relentless snow slopes. You’re cold, wall, ridiculous, or mad—do it! If Joyce Owen, PhD the altitude makes you sick, and you those with FA can live their lives in want to lie in the snow and die. quiet and determined courage, then Layout and Design Tanya Harvey, Wild Iris Design However, the quiet courage of all the rest of us can climb our own those who suffer from FA inspired us Mont Blancs in support. ◆ Staff to continue. Executive Director: Mary Ellen Eiler Family Support Coordinator: Suzanne Lauck Board of Directors Barry Rubenstein, JD, President The Eighteenth Annual David Frohnmayer, JD, Vice President Ruby Brockett, Secretary/Treasurer Deane Marchbein, MD Kevin McQueen International Mark Pearl Robert D. Sacks Michael L. Vangel FA Scientific Peter von Hippel, PhD Joyce Owen, PhD, Director Emeritus Lynn Frohnmayer, Advisor to the Board Symposium Scientific Advisory Board Grover C. Bagby, Jr., MD, Chair Marc Coltrera, MD Richard Gelinas, PhD OCTOBER 19 – 22, 2006 Eva Guinan, MD Hans Joenje, PhD Christopher Mathew, PhD Marriott Bethesda North Hotel Stephen Meyn, MD, PhD Raymond J. Monnat, Jr., MD and Conference Center Elaine Ostrander, PhD Maria Pallavicini, PhD Bethesda, Maryland Kevin M. Shannon, MD Neal Young, MD Printing Image Masters Printers

24 FA Family Newsletter