FAMILY NEWSLETTER #29 A Semi-annual Newsletter on Fanconi Anemia for Families, Physicians, and Research Scientists Spring 2001

Researchers, treating physicians, and FA parents attended the FA Scientific Symposium in October.

HIGHLIGHTS Fanconi Anemia Plan to Attend August Scientific Symposium Family Meeting! Discoveries Reported...... 2 One hundred fifty-six researchers, Our 10th annual FA Family Meet- Gene Therapy Trial to Begin...... 2 treating physicians, and fifteen FA par- ing is seven months away, but now is ents from fourteen countries met in the time to start planning. This year, Bone Marrow Transplant Conference Planned ...... 2 Amsterdam for the Twelfth Annual we will offer a limited number of schol- International FA Scientific Sympo- arships to help families defray travel Comparison Between sium, October 26-29, 2000. Coun- and lodging expenses (see article, p. 11). Complementation Group and Mutations, and Clinical tries represented were Tunisia, France, From August 10-14, 2001, FA fam- Outcomes...... 3 England, Canada, Spain, Italy, Ger- ilies, treating physicians, and research- many, Argentina, Israel, Japan, South ers will meet at the picturesque lake- Fludarabine-Based Regimen for Alternate Donor Hemato- Africa, , The Netherlands and front setting of Aurora University’s poietic Cell Transplantation....4 the . Fifty-one scientists George Williams Lake cam- and treating physicians gave formal pus in Williams Bay, Wisconsin. We New Promising Vectors for presentations. Evaluations from atten- will learn from our experts, meet and Gene Therapy ...... 4 dees confirmed, once again, that our share experiences with other FA fam- Preimplantation Genetic annual scientific meeting is an out- ilies, and relax. Lake Geneva is an easy, Diagnosis Articles ...... 5 standing investment of our precious two-hour drive from ’s O’Hare Medical Advice From our research dollars. airport, or a forty-five minute drive E-Mail Group...... 8 Research topics covered six areas: from the airports in Milwaukee or Family News...... 9 Gene Discovery and Regulation; Can- Madison, Wisconsin. cer and Leukemia; FA Protein Func- We will have two days of science Fundraising ...... 16 tion and Hematopoiesis; Mosaicism, and medical presentations on the continued on page 15 continued on page 14 MEDICAL NEWS

Discoveries Reported Gene Therapy Trial to Begin Two articles concerning FA-relat- A clinical gene therapy trial for group A is currently being evaluated ed discoveries were published on Feb- Fanconi anemia will open shortly at for clinical use. ruary 23 in the journal, Molecular Cell. Indiana University in conjunction with The protocol will use retroviral gene “Positional Cloning of a Novel Fan- the recently formed International Col- transfer to place a normal FA gene into coni Anemia Gene, FANCD2” by laborative Fanconi Anemia Group. The blood-producing cells obtained from a Markus Grompe, Robb Moses, Alan institutions currently involved include patient’s bone marrow. Peripheral blood D’Andrea and collaborators describes Indiana University, the Fred Hutchin- and stored umbilical cord blood col- the identification of an FA gene which son Cancer Research Center, and St. lections may also be used as the source plays a crucial role in the FA gene path- Jude Research Hospital, as well as rep- of blood-producing cells. A retroviral way. FANCD2 is also the first FA gene resentatives from Brazil and Germany. marker vector will be transferred to a found to be conserved in lower ani- The FDA has approved the protocol, small portion of the blood-producing mal species and plants. The discovery and final modifications are now being cells. Participants in the clinical trial of FANCD2 now means that there are submitted. will be monitored closely for the trans- at least eight complementation groups. This is a pilot study to evaluate the fer of the FA gene into their blood cells. “Interaction of the Fanconi Ane- safety and feasibility of performing gene The fate of the cells corrected with the mia Proteins and BRCA1 in a Com- therapy on patients with Fanconi ane- normal FA gene and the marker vector mon Pathway” by Alan D’Andrea, mia. A retroviral vector for clinical use will be compared to determine the effi- Markus Grompe and collaborators, with the FA complementation group cacy of gene correction. The researchers states that the FANCA, FANCC, C gene has already been produced at hope that this approach may eventually FANCF, and FANCG proteins form the National Gene Vector Laboratory correct or prevent the bone marrow a complex in the nucleus of the cell. located at Indiana University. A retro- failure of Fanconi anemia. ◆ This complex is required for the acti- viral vector for the FA complementation vation of the FANCD2 protein. In normal, non-FA cells, the FANCD2 protein plays an important Bone Marrow Transplant Conference Planned role in DNA repair. In normal cells damaged by X-rays or other agents, FA bone marrow transplant experts not be open to observers. the FANCD2 protein is found in dis- from around the world will gather in Short presentations will be followed tinct spots (or foci) in the nucleus. Chicago on April 28, 2001, for a one- by panel discussions. Participants will These foci are not found in cells from day conference. Grover Bagby, Oregon cover the following topics: matched FA patients regardless of the comple- Health Sciences University and John sibling donor transplants; unrelated mentation group. Interestingly, the Wagner, University of Minnesota, have and related mismatched transplants; breast cancer protein 1 (BRCA1) is graciously donated their time to sources of stem cells (bone marrow, located with the FANCD2 protein in organize this meeting. The conference cord blood and peripheral blood stem these same foci after the same kinds of will include approximately twenty-four cells); and pre- and post-transplant DNA damage. The FANCD2 protein treating physicians who specialize in complications. The FA Research Fund therefore provides the missing link transplantation and its complications. is sponsoring this conference. We trust between the FA protein complex and The small number of attendees and that the sharing of information and the BRCA1 repair machinery. Dis- targeted focus of the meeting should opportunity for informal discussion ruption of this pathway results in the assure that this crucial topic is and debate will ultimately produce bet- cellular and clinical phenotype com- addressed comprehensively, with ter transplant outcomes. Our sincere mon to all FA complementation ample time for discussion. To encour- thanks to donor John Holmes of Ice groups. ◆ age open dialogue and a thorough Bear, Inc., for making this workshop exchange of ideas, this meeting will possible. ◆

2 FA Family Newsletter Comparison Between Complementation Group Helmut Hanenberg, MD, and Mutations, and Clinical Outcomes Will Do Complemen- Christopher Mathew, PhD, Guy’s were more common in the rare groups tation Analysis for FA Hospital, London, and collaborators FA-D, FA-E, and FA-F. In FA-A, Families published an article in Blood, Decem- patients who inherited mutations from ber 15, 2000, on the association both parents which knocked out pro- Helmut Hanenberg will do com- between complementation group and tein production from the FANCA gene plementation analysis for all known mutation type and the clinical out- had an earlier onset of anemia and a complementation groups. Peripheral come in Fanconi anemia. The authors higher incidence of leukemia than blood is the easiest and quickest mate- studied 245 patients from all known those with mutations producing an rial to analyze, although he can use any complementation groups. Disease altered protein. In FA-C, there was a cell type that can be grown in culture. mutations were identified in 169 later age of onset of aplastic anemia Hanenberg recommends sending 8 - patients. The authors noted that FA- and fewer birth defects in patients with 12 mls of blood because of the long G patients had severe bone marrow the 322delG mutation; there were distance from the United States to Ger- failure and a higher incidence of more anomalies in patients with the many. There is a likelihood of greater leukemia. Birth defects or anomalies IVS-4 mutation. ◆ than 95 percent of finding the defec- tive gene using his method. At the pre- sent time, there is no cost for this ser- Four Patients Transplanted with Related, vice. For information on shipping and Mismatched Donors Do Well handling, contact: Dr. Helmut Hanenberg Farid Boulad, MD, Memorial- No patient has yet experienced acute or Department of Pediatric Sloan Kettering, reports that he has chronic graft-versus-host disease. The Hematology & Oncology, now transplanted four FA patients third patient had post-transplant com- Children’s Hospital, using related, mismatched donors. Two plications (CMV infection and EBV Heinrich Heine University were mismatched at two antigens; two lymphoma) which have been resolved. Moorenstr. 5 were mismatched at one antigen. For The number transplanted is very small 40225 Duesseldorf, Germany the first patient, this was a second and the time, post-transplant, for the e-mail: Helmut.Hanenberg@uni- transplant; for the subsequent three fourth patient is inadequate for a full duesseldorf.de patients, it was a first transplant. Dates evaluation. Nevertheless, Boulad is phone: 011 49 211 811-6103 of transplant were 5/27/98, 3/31/99, optimistic about these very promising fax: 011 49 211 811-6436 1/20/00, and 10/26/00. Except for the results. ◆ patient receiving a second transplant, patients received total body irradia- tion. Protocols included fludarabine Chapel Hill, NC Will Perform Complementation and cyclophosphamide. Three patients Group Testing on FA Families received G-CSF-mobilized peripheral blood stem cells and one patient bone by Chris Walsh, MD marrow stem cells. All stem cells were We will perform complementation In addition, if patients are under- T-cell depleted to prevent graft-versus- group testing on peripheral blood and going tumor biopsy or surgical exci- host disease. bone marrow aspirate samples. Patients, sion, those samples can also be sent to All four patients engrafted early through their own physicians, can send the following address: (between days nine and eleven post- bone marrow aspirate and blood sam- transplant). Immune reconstitution ples to my lab (see address below). Dr. Chris Walsh occurred at 8 months for the first two Samples can be sent at room temper- Rm. 7101 Thurston Bldg. and 12 months for the third. It is too ature and should contain anticoagu- CB#7352 soon to evaluate the fourth patient. All lant such as EDTA for overnight ship- Chapel Hill, NC 27599 four are alive and well; the first three ment. Notification of the lab 1-2 days phone: 919-966-9116 patients are alive almost three years, before shipment would be appreciated. fax: 919-966-0907 two years and one year post-transplant. There is no cost to families. e-mail: [email protected]

Spring 2001 3 Fludarabine-Based Preparative Regimen for Fanconi Patients Undergoing Alternate Donor Hematopoietic Cell Transplantation Margaret L. MacMillan, MD and John E. Wagner, MD, University of Minnesota Until recently, graft failure was the ation and anti-thymocyte globulin. agement of any suspected or proven major obstacle to successful bone mar- To date, fourteen patients enrolled infection, patients with infections prior row transplantation in patients with on this new protocol at the Universi- to transplantation do not do well after Fanconi anemia using an alternate ty of Minnesota can be evaluated. All transplantation. Therefore, it is imper- donor (i.e., a donor other than a 13 who survived at least one month ative that patients be considered for matched sibling). The risk of graft fail- post-transplant successfully engrafted. alternate donor bone marrow trans- ure was particularly high in patients Seven of the fourteen patients are alive plantation as soon as they have met with somatic lymphocytic mosaicism and free of disease. Opportunistic one of the following three criteria: (the presence of >10% lymphocytes infections remain a major complica- 1. Aplastic anemia as defined as hav- insensitive to DEB). We thought that tion of bone marrow transplantation. ing at least one of the following: the high rate of graft failure might be We routinely screen all FA patients platelet count < 20 x 109/L; ANC partly due to insufficient suppression before transplantation to identify and < 5 x 108/L; hemoglobin < 8 g/dL. of the immune system. Therefore, we treat any hidden infections. In addi- 2. Myelodysplastic syndrome (MDS) developed a new preparative regimen tion to a high-resolution chest CT and with or without chromosomal by adding fludarabine to the com- sinus x-ray, all patients are seen by our anomalies. monly used preparative regimen of Infectious Disease service before trans- cyclophosphamide, total body irradi- plantation. Despite aggressive man- 3. Hematologic malignancy such as acute myeloid leukemia (AML). It takes an average of 3 months to identify a suitable unrelated bone mar- New Promising Vectors for Gene Therapy row donor for a patient. Therefore, it As the functions of the proteins working with these vectors are seeking is best if Fanconi anemia patients are encoded by the Fanconi genes are being to develop evidence that stem cells seen in consultation early on, preferably identified, scientists remain increas- from patients with Fanconi anemia, just as the blood counts begin to ingly optimistic that gene therapy of particularly those with the A and C decline. This timely consult and ini- bone marrow stem cells might be an complementation groups, can be suc- tiation of a donor search will enable effective treatment for bone marrow cessfully treated. us to arrange for a transplant as soon failure in children and adults with Fan- The researchers developing these as it is necessary, with the goal of coni anemia. While this kind of ther- vectors are seeking to obtain samples of decreasing the risk of life-threatening apy will not place the normal gene in bone marrow cells from children and opportunistic infections. all cells of the body, Fanconi researchers adults with Fanconi anemia type A and At the University of Minnesota we have high hopes that the bone mar- type C. Patients and parents who are also very interested in identifying row abnormalities might resolve. would like additional specific infor- the long-term post-transplant issues of One of the technical problems with mation on these studies and informa- FA patients. Two years ago we con- gene therapy for bone marrow stem tion on how samples should be pre- ducted a pilot study of late effects after cells is that the true stem cells are rare pared for shipping to these laboratories transplantation and quality of life of and most of them are not actively should call or write to: patients with Fanconi anemia. With the dividing. Unfortunately, many of the Dr. Grover Bagby help of the Fanconi Anemia Research first generation retroviral vectors (the Director OHSU Oregon Cancer Fund, we will be conducting a second packages that carry genes into the cells) Center survey this spring. We hope that many aren’t able to get the gene into any cell CR145 patients and families will participate so unless it undergoes cell division. Now, 3181 SW Sam Jackson Park Road that we can learn how we may opti- new vectors are being tested that are Portland, OR 97201 mize the health and quality of life of capable of putting the gene into cells phone: 503-494-0524 our patients and their families. ◆ that are not dividing. Investigators FAX: 503-494-7086

4 FA Family Newsletter Preimplantation Genetic Diagnosis by John Wagner, MD, Pediatric Bone Marrow Transplant Program, University of Minnesota Preimplantation Genetic Diagnosis first requires daily injections to hyper- are possible and should be discussed. (PGD) allows carriers of a genetic dis- stimulate the ovaries. The eggs are har- Within four weeks after implanta- ease to know the health and HLA sta- vested approximately 14 days after ini- tion, a test will be per- tus of an prior to achieving a tiating the injections. Each of the formed. If the mother is pregnant, pregnancy. Couples who desire addi- mother’s eggs is fertilized with the chorionic villus sampling (CVS) or tional children and can afford the time father’s sperm. After two to three days, will be scheduled to con- and expense of such a procedure might the cells will have divided about three firm that the fetus is healthy. In addi- consider PGD. times. At the 8 cell stage, a single cell tion, HLA typing will be performed. If A family must first be tested for is removed and tested by the PGD both characteristics are confirmed, an complementation group assignment team. The cell from a well-growing arrangement will be made for the and specific disease mutations. The embryo is then tested for Fanconi ane- collection and shipment of the umbil- next step is to obtain HLA typing on mia and HLA identity. that ical cord blood to the transplant cen- the mother, father, and child affected are HLA matched to the FA patient ter at the time of birth. A collection with Fanconi anemia. and free of disease may be used for kit and instruction manual will be The most important step is iden- implantation. Embryos that are free of shipped to the family and/or obstetri- tifying a good in vitro fertilization disease but not HLA matched can also cian directly. On arrival, the cord blood (IVF) team. IVF does not have to be be implanted or frozen for later will be tested for stem cell number, performed at the location of the PGD implantation, depending upon the infectious disease contamination (from team, although that is possible. IVF desire of the family. Various options the delivery process) and HLA (a third time). Prior to transplantation the new- born donor will be evaluated for FA Molecular Testing for Pre-implantation Genetic once again (a third time). These tests Diagnosis at The Rockefeller University are repeated because of their critical importance. by Arleen Auerbach, PhD Procedural Steps For pre-implantation diagnosis with in vitro fertilization (PGD/IVF) for 1) Conference with transplant physi- Fanconi anemia, it is necessary to use molecular testing for FA detection. Where- cian and genetic counselor as prenatal DEB testing is sensitive for detection of any FA complementation group, to do PGD it is necessary to know which of the FA genes is defective 2) HLA type mother, father and child in the family. This is because it is necessary to compare the defective gene in affected with Fanconi anemia; con- the affected child to the same gene in the embryo, to determine whether the firm absence of healthy HLA- embryo is also affected with FA. Once the complementation group is determined, matched sibling donor detection of at least one of the mutations in the gene that is defective in the patient 3) Obtain complementation group is helpful for PGD. Polymorphic markers in the defective gene can also be used assignment and mutation analysis to aid in diagnosis by PGD. 4) Referral to PGD center Our Laboratory of Human and Hematology at The Rockefeller Uni- 5) Referral to IVF center versity is able to help FA families with complementation testing and mutation anlysis who are registered in the International Fanconi Anemia Registry (IFAR) 6) CVS/amniocentesis to confirm and are participating in our research program. The informed consent form health and HLA status of fetus approved by our Institutional Review Board for the IFAR study allows us to give 7) Cord blood collection and har- the results of complementation studies and mutation testing to families who vesting want the information, if they have indicated this on the signed form. Our lab 8) Confirmatory testing on cord has federal and state approval for clinical diagnosis and DNA-based diagnosis blood/newborn baby for Fanconi anemia. We charge $650 for DEB testing to confirm the diagno- 9) Transplantation of HLA-matched sis of Fanconi anemia, if it hasn’t already been done by our laboratory. There umbilical cord blood ◆ are no other charges to FA families for complementation or mutation analy- sis. E-mail contact: [email protected] ◆

Spring 2001 5 New Molecular Diagnostic Services Offered to FA-A Families Considering Prenatal Genetic Diagnosis (PGD) To date, families pursuing prena- genetic markers. This information is the accuracy of the analysis. The analy- tal genetic diagnosis (PGD) have been then used by the in vitro laboratory to sis is done in the laboratory on DNA in complementation group C, which test fertilized embryos prior to implan- obtained from a simple cheek swab, accounts for 15% of all FA families. tation. In many cases it will be possi- which can be collected at home using This technology has not yet been an ble to determine with a very high materials provided by GeneDx, Inc. option for patients in FA-A, which degree of accuracy whether or not an At this time, the cost to perform this accounts for 60-65% of FA patients. embryo has inherited the chromosomes analysis on parents, the FA patient, For PGD to work, scientists must carrying the disease mutations from and any unaffected siblings is $1,500. examine one cell in each pre-embryo to each parent. GeneDx. Inc. is a full-service genet- see if it is a normal or FA affected cell. GeneDx, Inc. of Rockville, MD, is ic testing and diagnosis company ded- This is relatively easy to do with FA-C. now providing linkage analysis to FA- icated to serving the diagnostic and The FANCC gene is of average size. In A families in which there is at least one genetic counseling needs of individu- addition, there are six common muta- living patient with the disease, and als and families with rare hereditary tions in the FANCC gene which cause both parents are available for genetic disorders. For further information con- FA. Scientists can screen rapidly for studies. It is also helpful if there are tact Sherri Bale, PhD, FACMG, Clin- the presence of these six mutations. unaffected siblings of the FA patient ical Director, GeneDx. Inc. at 240- Almost all FA-C families have these who can be studied, as this can increase 453-6285. ◆ common mutations. In contrast, the FANCA gene is very large. Most of the disease mutations Preimplantation Genetic Diagnosis for Fanconi in this gene are private, or specific to only one family. There is no rapid, Anemia at the Reproductive Genetics Institute accurate test to locate a family’s spe- The Reproductive Genetics Insti- to use linked genetic markers and fam- cific mutations. Therefore, the muta- tute (RGI) in Chicago, Illinois has had ily studies (linkage analysis) to predict tions in FANCA are not amenable to extensive experience in preimplanta- if an embryo has inherited both the the same type of analysis as are the tion genetic diagnosis (PGD). They mother’s and the father’s mutations. mutations in FANCC. have worked with over 1,000 couples. RGI is willing to work with fami- Sherri J. Bale, PhD, Clinical Direc- Over 2,000 in vitro fertilization (IVF) lies in complementation groups A and tor of Gene Dx, Inc., states that it is cycles have resulted in more than 200 C. Another laboratory must first assign possible to use genetic markers to deter- healthy children. PGD with IVF and a family to a complementation group. mine if one cell is healthy or not. embryo transfer is done as part of an Parents, the FA patient, and unaffect- FANCA is on chromosome 16. Each experimental study. ed siblings need to be HLA-tissue FA carrier has two copies of chromo- Over the past two years, the RGI typed. It is very useful to the Repro- some 16, one normal and the other has included HLA diagnosis of ductive Genetics Institute if another carrying a disease mutation. Using embryos for the purpose of cord blood laboratory has determined a patient’s genetic markers, it is possible to deter- stem cell or bone marrow transplan- specific FA mutations. mine which chromosome 16 from each tation. The Nash family was their first In some instances when the specif- parent was inherited by the FA patient. successful attempt using PGD which ic mutations cannot be determined, This approach is often called “linkage resulted in a transplant. RGI will con- the RGI may develop linkage analysis analysis” because scientists are deter- tinue to offer its services to other FA for a family. This analysis would take mining which genetic marker is families. 8 to 10 weeks. The cost of developing “linked” to the mutation in the gene, In the Nash family, the specific a system to diagnose both FA and HLA without actually identifying the muta- mutation in FANCC was known. The in embryos is $4,000. tion itself. same techniques can be used with In addition, the cost is $5000 per The procedure is very simple. DNA embryos to detect a specific known in vitro fertilization cycle ($2,500 to de- from both parents, the FA patient, and mutation in FANCA. When the muta- termine if the embryos are FA affected any healthy siblings is “typed” at several tion is not known, it is often possible continued on page 19

6 FA Family Newsletter Present Odds for PGD Laurie Strongin Writes D’Andrea Wins Not Encouraging of Unsuccessful PGD Pediatrics Honor Attempts We are now aware of four FA-C Alan D’Andrea, MD, Harvard families who have attempted PGD a Laurie Strongin has written a very Medical School scientist and FA total of seventeen times. One family moving article about her family’s researcher, has been awarded the 2001 experienced nine failed attempts. The attempts to achieve a pregnancy E. Mead Johnson Award. This covet- Nash family has had the only success through prenatal genetic diagnosis ed honor, given over the past 60 years, thus far. As laboratories gain experi- (PGD). Laurie and her husband, Allan constitutes the highest research prize ence, we trust that these numbers will ◆ Goldberg, attempted this procedure in pediatrics. We congratulate D’An- improve. nine times, but were not successful. drea on this magnificent achievement! With considerable detail, Laurie Alan writes: “One very positive side of Molly Nash Update poignantly chronicles the emotional this award—I will be able to present and physical toll of their many a high profile lecture on Fanconi ane- Molly Nash, the first FA patient to attempts. Because of the length of the mia at the annual Pediatrics Meeting in receive a cord blood transplant fol- article, it will not be published here. Baltimore in April.” lowing successful preimplantation However, anyone wishing to read this We are deeply grateful for the efforts genetic diagnosis (PGD), continues to account can obtain a copy of Laurie’s of D’Andrea and all FA researchers for do well, apart from digestive tract com- article through the FA Research Fund their labors to raise awareness of FA plications. Molly’s transplant occurred office. ◆ and to advance FA science. ◆ on October 26, 2000. Her blood counts are now completely normal. Molly has had a feeding tube since she was six months old. In addition, she has complications resulting from her transplant. Chemotherapy and radiation were very hard on her diges- tive tract, and she also developed a post-transplant adenoviral infection. She has had diarrhea, vomiting and pain on a fairly regular basis since her transplant. Her infection has cleared, but the digestive tract problems remain. Biopsies do not show graft-versus-host disease. Tube feedings and TPN (IV feedings) provide her nutritional needs, but they also suppress her appetite. The Nashes have learned patience and perseverance from this whole ordeal and know that Molly’s digestive prob- lems will take time to resolve. Adam and Molly Nash The Nashes plan to do bone mar- row drives once Molly is out of pro- program 20/20. more suffering. That is what we are tective isolation. They hope to raise Molly’s mother, Lisa, writes “We living for.” public awareness for FA. Their story know how lucky and blessed we are We thank the Nash family for their appeared in McCalls Magazine, Peo- with two wonderful kids. Now we need courageous willingness to share their ple Magazine, and in the Ladies’ Home to help others who are where we were. experiences and to endure all of the Journal in February. They will be fea- We owe that to Molly. We hope to help risks of widespread publicity. Aware- tured in Parenting Magazine in June FA for many, many years until there ness of FA has been increased dramat- or July. They were on the television is a cure for this terrible disease, and no ically as a result. ◆

Spring 2001 7 Medical Advice From our E-Mail Group

Blanche Alter, MD, on FA throat, chronic sores inside the mouth, be true for FA patients. Such cytoge- post-transplant surveillance: or new white patches on the tongue, netic clones may come and go. The I am a pediatric hematologist/ gums or cheeks, should be brought to bottom line is that we don’t know the oncologist at the National Cancer Insti- your caregiver’s attention without wait- true significance of monosomy 7. tute (NCI), with a long-standing inter- ing for the next scheduled check-up. Nonetheless, closer surveillance is est in FA. I have recently joined this Since little is known about the very recommended if a cytogenetic study e-mail list, and would like to respond long term outcomes of FA patients reveals a monosomy 7. This means to the question raised by Mr. Jackson who have had a BMT, each patient bone marrow examinations every 4 with regard to “what is next” for FA should remain under close medical months for a while to see if the clone patients who have had a successful observation. Specific concerns of goes away spontaneously, progresses bone marrow transplant (BMT). It is patients and families should be brought (i.e., both in terms of proportions of clearly very exciting and gratifying to the attention of their physicians. cells involved and the addition of when BMT succeeds, provides a cure other cytogenetic abnormalities), and for aplastic anemia or leukemia, and John Wagner, MD, on trying to alters the way the cells look under the eliminates the need for transfusions prevent post-transplant fungal microscope (i.e., development of my- and/or androgens. However, it must infections: elodysplasia or leukemia). In my own be recognized that BMT (or cord stem In general, we recommend discon- experience, I am suspicious that abnor- cell transplant, or even gene therapy) tinuing oxymetholone and starting malities of chromosomes 1 and 3 may is designed to replace or fix only the itraconazole one month prior to BMT. be as frequent and as ominous, but bone marrow. The genetic defect in Although we have not yet proven its this, too, is not proven. Any chromo- other body organs is not repaired by benefit, it is hoped that itraconazole some abnormality should be viewed as transplant. will reduce the risk of fungal infection a call for closer surveillance just as it is Unfortunately, as many of the FA after transplant. This presumes that for chromosome 7. ◆ families know, one of the long term the liver function tests are near normal. concerns after BMT is the possibility While itraconazole may cause liver of an increased risk of cancer. In par- problems, this side effect is reversible ticular, cancers of the head and neck by simply stopping the drug. The alter- have been reported following BMT in native is amphotericin, which has a far FA patients, especially cancers of the greater likelihood of toxicity. Ampho- mouth and tongue. The size of the risk tericin can cause kidney problems, and whether there are excess occur- which would prevent us from using a David Williams, MD, rences of other specific types of can- full dosage of other crucial drugs. will Join Staff at cers, over and above what is seen in Therefore, itraconazole is recom- Cincinnati Children’s the untransplanted FA patient, remain mended as a first choice. Amphotericin unclear. These important questions would be used if a fungal infection Hospital will be the focus of studies that are were suspected or the patient were con- Dr. David Williams, a pioneer in now in the planning stage here at the sidered to be at excessive risk, i.e., col- gene therapy research and well known NCI. onized with fungus or a history of fun- to many FA families, has announced he For now, the consensus recom- gal infection. will be moving to the Children’s Hos- mendation of the group of FA experts pital Medical Center in Cincinnati in convened by the FARF in 1998, with John Wagner, MD, on clonal the upcoming year. He will be teaming regard to cancer surveillance, is for abnormalities: up with Dr. Richard Harris of the close monitoring of the head and neck Monosomy 7 is worrisome. But, in Blood and Marrow Transplant pro- with at least annual dental evaluations the absence of any longitudinal study, gram at Cincinnati Children’s Hospi- looking for white patches or sores in its real significance for a given patient tal. Dr. Harris has performed more the mouth. New symptoms, such as is hard to predict. In contrast to non- than 60 related and unrelated donor persistently swollen glands in the neck, FA patients with monosomy 7 where transplants in children with FA. ◆ persistent pain in the mouth, tongue or a bad course is the rule, this may not

8 FA Family Newsletter FAMILY NEWS

Family from Belarus Shares Experiences by Alexander and Valentina Samosyuk, Belarus We are the Samosyuk family from to simply watch our daughter die. We Belarus, one of the newly independent tried different things, including alter- states of the former . We native medicine. The results were far write to share our experiences in the from good. We kept looking for peo- hope of helping others, to thank those ple who knew about this disease. who have helped us, and to establish Three years ago, we found the FA contacts with FA families in other Research Fund on the internet. We got countries. all the available information, includ- Our eight-year-old daughter, ing newsletters and the FA Handbook, Nastya, has Fanconi anemia. She was a book that changed our lives com- born with an extra thumb on her right pletely. All of a sudden we realized that hand. Later we learned that she had people can cope with this tragic phe- very low blood counts, and at the age nomenon in their lives. That was a ray of four, she was diagnosed with Fan- of hope. The book was provided by coni anemia. people who didn’t even know us and The correct diagnosis was the only had probably never even heard of help we got from her doctors. Different Belarus. We will always be thankful to medical specialists told us openly that the Frohnmayers and others who they didn’t know how to treat this dis- helped write the Handbook. Nastya Samosyukease. We were desperate. Yet we refused continued on page 13

A Successful Unrelated Transplant for Emily By Terry & David Estes Emily was diagnosed with FA at age wipe out her immune system. This is 4. She was treated with oxymetholone very hard on the parents. and then transfusions, as the counts She received her new bone marrow worsened and the medication failed to on February 11, 2000. On day +8 work. In January, 2000, we left for (Feb.18) her new counts started to Minnesota to go to transplant. The show. This was a day of so much joy hardest part of the whole process was and happiness for us as parents. Emily leaving our son behind with relatives could not have cared less since she was and being so far from home. Also, experiencing all of the side effects of knowing what was to come and what the chemo and radiation. She had sores Emily would experience was very tough. in her mouth and through her GI-tract, The day they gave Emily total body and couldn’t talk or eat. Day by day irradiation was one of the most emo- her counts continued to climb. On tional for us as parents. I can’t describe March 5 she was discharged from the the feeling you get when you see your hospital. We were very careful, almost child strapped into position and have paranoid, about what she did, and to walk out, leaving her behind, know- what or whom she was around. Once Emily Estes ing that you are allowing someone to continued on page 11

Spring 2001 9 Living in Hope by Janet Graham Greetings to all FA families! I am 31 were unable to create a stomach valve years old, I live in Australia, and I have and consequently I suffer from stom- been dealing with FA since the age of six. ach upsets and reflux. The good news When I was ten, I had a bone mar- is that I have been free of cancer since row transplant at the Prince of Wales my surgery. Children’s Hospital, in Sydney, Aus- I keep very busy with my small tralia. My donor was my perfectly business—a computer training service matched brother. At the time of my and web page design business. I teach transplant, I was given only a 10% in the vocational adult education sec- chance of survival. This was because I tor which can prove very challenging was in extremely poor health at the at times. I teach people who usually time, and the fact that this center had have no computer experience. I run never done an FA transplant before. my business primarily from my home. Janet Graham Many complications arose after my My main hobby is water color paint- transplant. I suffered severe GVHD ing, which I find relaxing and ener- after our son, Joshua. Joshua will be for six months. My body peeled as gizing. I also like to cook and, of four in May. He goes to pre-school, is though I had third degree burns all course, eat. My husband does not cur- very active, and loves the outdoors. over. I lost all my fingernails. I had rently work at a job, but is happy help- That I have a son is a miracle in itself! severe thrush which affected the ing with the home duties and looking Living in Hope, Janet ◆ mouth, nose and eyes, and I still strug- gle with the side effects of this. I was fed intravenously through a central Fanconi Canada Supports Science, line. However, the line became infect- ed and during surgical removal, it Helps Families snapped in half and traveled through Lorne Shelson, President of Fan- distributes a newsletter and brochure. the aorta to the heart and lungs. Emer- coni Canada, reports on the accom- Shelson writes: “We have been run- gency surgery was performed to remove plishments of this organization over ning a race to help science find a cure. the central line. Nine months after the past year. Fanconi Canada helped We have worked hard to raise funds transplant, I was discharged from the fund the research project, Under- and we thank all of you who have hospital. It took almost two years standing Fanconi anemia through func- helped with that effort. The progress before I recovered from the transplant tional analysis of the Fanconi anemia that has been made in understanding and its complications. (FA) group C protein, undertaken by FA and developing treatments since In February 2000, I was diagnosed Dr. Madeleine Carreau of the Centre families began fundraising for scien- with cancer of the esophagus. I was Hospitalier Universitaire de Quebec. tific research has been truly phenom- not given chemotherapy or radiation Fanconi Canada sent a leading hema- enal. We desperately need to push sci- because of the side-effects, and the great tologist/oncologist to the FA Scientif- entific discovery ahead vigorously. For uncertainty that these would be help- ic Symposium in Amsterdam, and has all FA patients, continued research is ful. Instead, physicians opted for joined with the Canadian government our best hope.” surgery. My tumor was 10 cm down to fund a Postdoctoral Fellowship Those of you who participate in in the esophagus, was 5 cm long and dedicated to FA research. The website our e-group know that Annette and covered the full circumference of the (www.fanconicanada.org) provides Lorne Shelson regularly post articles esophagus. During a 6 1/2 hour pro- information to FA families and of great interest and relevance to FA cedure, physicians removed 3/4 of the researchers, and accepts on-line credit families. Our congratulations and esophagus and half of the stomach. card donations from Fanconi Canada thanks to Fanconi Canada families for They reconnected the remaining stom- supporters. The second annual Ontario their hard work, impressive results, and ach to the top of the esophagus, using Region FA Picnic brought together dissemination of important informa- part of my small intestine. Doctors many FA families. The organization tion to all of us! ◆

10 FA Family Newsletter Family Meeting Scholarship Project to Defray Costs of Attending our Annual Meeting In August, 2000, 30 families special circumstances in your situation to select scholarship recipients. Fami- attended the Family Meeting. With an that could enable you to qualify for ly financial information and the names active group of over 300 FA families, the program. of those selected will be confidential. the FA Research Fund would like to Families will complete a written We hope that at least thirty FA fami- double the number of families attend- application available through the FARF lies will receive scholarship assistance ing. However, many FA families are office. The Family Support Coordi- during the next two years. ◆ overwhelmed financially because of the nator will convene a small committee medical costs associated with this dis- ease and cannot afford to attend. Fortunately, a recent large dona- tion was made to the Fund by FA par- A Successful Unrelated Transplant years. We will continue to home school ents Bill and Jackie Lucarell, specifi- continued from page 9 Emily for some time, but for the most cally to provide assistance to families to part she is leading a very normal, happy attend the Family Meeting. In addi- she came out of the hospital she never life with no effects from the transplant tion, the Fund has received a two-year had to have a transfusion, has had no ordeal. grant from Unimed Pharmaceuticals more nosebleeds and no real compli- When Emily was diagnosed 5 years for this purpose. Because of these gen- cations. She did experience a lot of ago we were told that our daughter erous donations, the FA Research Fund stomach pain, diarrhea, and a bout would die. We were then told she had has established a scholarship fund for with shingles just before going back a 25% chance if she had an unrelated a two-year project to defray the atten- home to Georgia. The few problems transplant. We were even told by a cou- dance and travel costs of families who she experienced were minor for an FA ple of FA families that if we were wise, need assistance. Currently, $35,000 is patient. She was and continues to be a we’d not go through with an unrelat- available for this project. We will con- real trooper. She never once com- ed transplant due to the bad odds. We tinue to raise funds for this purpose. plained or wanted to stop the whole let God direct us and it has been noth- Participants first will be encouraged process. ing less than a miracle for Emily. to seek other support, often available For an 8-year-old she is a very We did our homework concerning through local service organizations. tough little girl. She was on IV fluids which transplant center and which Those still unable to attend without and an NG-tube (a tube which allows transplanters to choose. We never gave help from the Fund will be eligible for feeding through a nasal passage) until up hope, and there is hope!! Dr. Wag- assistance. Priority will be given to the we came home to Georgia in order to ner and Dr. MacMillan are working following: newly diagnosed families; keep her kidneys functioning and to tirelessly to achieve better transplant those who have never attended a Fam- keep her weight up. After coming results and Emily is proof of that. ily Meeting; those facing an imminent home she was on fluids at night for Emily was primarily under Dr. major treatment decision for which about 3-1/2 months. Once they start- MacMillan’s care the whole time we the meeting’s educational program ed decreasing her CSA (cyclosporin) at were in Minnesota. We couldn’t ask could be of immediate value; those 9 month the fluids were gradually for a sweeter, more knowledgeable per- unable to find an equivalent education decreased until she was taken off the son to deal with. Emily received the and support service in their country; or CSA completely. best of care from the hospital nursing those providing special assistance for At no point through all of this has staff, the BMT clinic personnel, and language-translation or other program Emily shown any signs of GVHD. She the doctors. We can never say how support at the request of the Family is now almost one year post-transplant thankful we are to all of them for the Support Coordinator. and is on only zantac for reflux (she care she received and the ongoing work The Fund wants to make this pro- has been on this since birth) and they do. Let me end by saying to all gram as accessible to families as possi- bactrim to protect against infection of you who are in question of what to ble. If you aren’t certain you meet the (this will end at one year post-trans- do, or feel the devastation we felt: there above criteria, we encourage you to plant). She has normal blood counts. is hope, there is hope, there is hope. contact the Fund. There could be She has more energy than she’s had in Never give up! ◆

Spring 2001 11 Life with Fanconi Anemia by Janelle Redekop, Calgary, Canada I had a very bad viral infection a long time to stop when I was 5 years old and in kinder- the bleeding in the garten. I was staying at my Auntie morning, and I Cathie’s at the time, while my dad was always have bruises working and my mom had gone away on my tummy. on a little vacation. Auntie Cathie had I also get teased noticed that I wasn’t myself and had all the time because taken me to the doctor to get my blood of my deep voice tested. I was usually the healthiest in from the androgens. the family. They took my blood and Kids don’t realize realized that I had something very seri- how much it hurts ous and unusual, so they rushed me and affects a person. to the Alberta Children’s Hospital. This really seems like It was the day my mom got back the worst nightmare, from her trip. As soon as she got home, and A LOT of the Janelle and Jack Redekop there was a message on the answering time it is, but what keeps me going, Over the past five years many news- machine saying that I was at the hos- besides family, friends and God, are paper and television articles have cov- pital and that she had better come the many great things that have hap- ered my condition. Personally, I feel quickly! My dad was already there. I pened in my life! comfortable in front of the cameras remember the doctor saying, “We’re When I was seven years old, I was since my dream is to be an actress, and checking it out and you might have to invited by an actress to stay at her home the younger I start the better. I’m also stay a night or two.” A night or two in Toronto. I watched her do a TV hoping this will make others more ended up being a whole month! episode, and tapings of the cartoon aware of FA. One of the things I real- I missed over a year of school while Sailor Moon, which was my favorite ly enjoyed was being a TV Co-host for I was at home with a low immune sys- show at that time. I was then recog- the Children’s Hospital Telethon. I tem, and I couldn’t go back until my nized by the Royal Canadian Mount- have just been given the privilege of parents took me to the U.S. to get a ed Police (RCMP), as one of their hon- being chosen the Alberta Children’s chicken pox vaccination. I returned to ored patients in a fundraiser for bone Hospital Champion Child for 2001. school in grade 1, when I should have marrow research. Thankfully, since This means that I will be the children’s been in grade 2. Ever since then, I have then the RCMP have helped us raise spokesperson at the hospital’s public always been a year older than my class- money for FA on a regular basis! events and presentations. I then meet mates. I am now in grade 4, I’m 10 The hospital included me on their up with the other Champion Children years old, and living with FA. special trip to Disneyland for the day. from Canada and the United States at I have low hemoglobin, platelets, It was an exciting adventure for the 96 Disneyworld, Florida in April!! and white cell counts, just as a usual FA children who went along. I was thrilled All these things I have mentioned patient would. My platelets are usual- to have my neighbor who works for are not as important to me as the won- ly between 10 and 15 thousand, so I Air Canada as my group leader! Her derful friends I have made during the have to be careful not to get injured. daughter, Candice, was kind enough to long journey of FA. I look forward to Because of low hemoglobin I have had give me private swimming lessons in seeing them all every summer at the MANY transfusions! This raises my their back yard pool, which keeps me FA camp. This is one place I can truly iron to a dangerous level that could safe from the germs and injuries that have fun, and be myself! I feel we all damage my heart and other organs, so might happen in a public swimming relate to one another in a supportive it is necessary to use a nightly IV nee- pool. I was given an unexpected gift and understanding way. This gives me dle of Desferal. I really dislike it! I don’t card from McDonalds, which allows the confidence to go on with my every- mind the needle, I just don’t like the me to have free French fries anytime. day life. ◆ reason we’re doing it. I also can’t have This helps cheer me up on the way to as many sleepovers with friends. It takes the hospital.

12 FA Family Newsletter Family from Belarus continued from page 9

Ralf Dietrich, the Executive Direc- tor of the FA Fund in Germany, has played an extremely important role in Nastya’s life. Three years ago he flew to Warsaw to meet Nastya and our fam- ily. Since then he has been like a guardian angel for Nastya. We appre- ciate his help in arranging tests for our daughter. His recommendations do not replace the advice of doctors, but have been very helpful and effective. Thanks to medicine provided by From left to righte: Pawel Stankiewicz, MD, Warsaw, Poland; Ralf Dietrich, FARF Germany; Schearing Plough, Nastya had very Alexander Samosyuk and his wife Valentina with their two children Nastya and Irina. stable blood counts last year. Unfor- tunately, her counts dropped dramat- About two years ago, we decided tact us. We would also be glad to hear ically after we tried to reduce the dose to have another baby. This decision from any family who would like to of androgens because of serious side would not have been possible without share their experience or simply estab- effects. It took us months to improve hope for a prenatal diagnosis. Ralf lish contact with us. her condition again. Dietrich arranged for us to have this Any serious bleeding can change test in Germany. Thanks to all those Alexander and Valentina the whole situation for Nastya, because who helped us, we have a child who Samosyuk it is extremely difficult to arrange brings us much joy and happiness. If 108/1 Kievskaya Street platelet transfusions. Each time we our experience would be of use to any 224020 Brest need one, we have to go to Minsk, the other family, we invite them to con- Belarus capital city, which is more than 350 kilometers from the city where we live. The situation is aggravated by eco- nomic hardship in the country. Clin- ics often don’t have modern equip- ment, let alone androgens and supportive medicines. None of the In Loving drugs that Nastya needs is available in Belarus. Besides, we are the only FA family in the country and we cannot Memory expect too much attention from doc- tors who are already overwhelmed with many other children’s diseases caused Courtney Dickson by the Chernobyl accident. 6/20/86 – 12/07/00 In such a situation, any family would probably feel very alone to fight its own problem. We are happy to say Wendy Epps that we don’t have this feeling. Our 10/26/67 – 02/25/01 family is regularly invited to attend FA support group meetings in Germany, and learn about the most recent Jerry Gorga research in the field. We feel we are 05/01/51 – 11/28/00 part of the FA community.

Spring 2001 13 We Welcome New Families Plan to Attend Family Meeting! Who Have Joined Our Support Group continued from page 1 weekend, followed by one day of psy- Rosaleen Moran Andrew and Jennifer Gough cho/social sessions on Monday. We Abbeytown 6323 E. Lafayette have shortened the entire meeting by Caherlistrance, Co. Galway Scottsdale, AZ 85251 one day. Families can choose to attend Ireland (480) 663-1749 part or all of the program. 011 93 31242 [email protected] Presenters will address topics such Bernadette ~ DOB: 12/10/73 Shannon ~ DOB: 6/27/00 as FA 101 (a session for newly diag- Frances ~ DOB: 3/23/82, nosed families); decision-making deceased 1/90 Kees and Roos van Straten guidelines for timing of treatment deci- Grote Barteldweg 17 sions; long-term clinical management; Roberto and Karen Enrieu 7391 CK Twello advancements in bone marrow trans- 5 Dalton Gardens The Netherlands plantation; prenatal genetic diagnosis; Belgrave Road 011 31 571 276924 cancer prevention and treatment; gene Wyken, Coventry [email protected] therapy; and understanding genes and England CV2 5BY Jordy ~ DOB: 4/13/89 disease mutations. On our third day, [email protected] Chiara ~ DOB: 7/07/94, sibling Nancy Cincotta will lead discussions Michelle BMT April 1999 on coping and living with FA. We are Selina ~ DOB: 7/12/86 also inviting a nutritionist to discuss Elizabeth and Graham Walker the effects of a healthful diet on the 55 Dunlop Crescent Janet Graham immune system. Dreghorn, Irvine, Ayrshire PO Box 49 Our wonderful volunteers from the Scotland KA11 4HN Fairy Meadow Michigan Rotary Youth Group, plus 011 12 94 217696 NSW volunteers who have helped us for DOB – 8/29/75, transplanted 2519 Australia years, will be back this summer. They 8/14/97 matched sibling make it possible to offer a compre- hensive, age-appropriate children’s pro- gram during medical presentations and group meetings. Evening activities will include bonfires, a magic show, and Address Corrections to the Directory our now-famous karaoke night. Johnnie and Debra Byrd Dr. D.M. Halepoto Families have received information 2218 14th St. #A B-No. A8 related to cost and a pre-registration Two Rivers, WI 54241-2851 New Wahdat Colony form. Contact the FA office for addi- Nyderabad Sindh tional information or with questions. Kim Frock Pakistan Anyone who has attended a Fami- 317 Luther Drive ly Meeting will agree that this is one of Westminster, MD 21158 Robin Paulson the best ways to learn about FA and Listed under Missouri in the 3128 Island Drive gain up-to-date medical information directory Redding, CA 96001 and needed support. We hope to see ◆ Same phone you there! Greg Gill 31514 Rolling Meadow Ct. E-mail Corrections: Coarsegold, CA 93614-8713 Fabio Frontani [email protected] Joseph and Patricia Grieco 61 Dari Road Charles and Dawn Church Middle Island, NY 11953-2658 [email protected]

14 FA Family Newsletter FA Scientific Symposium important role in DNA repair. D’An- transplant outcomes. Presentations continued from page 1 drea also observed that the FANCD2 described efforts to improve gene ther- gene interacts with the breast cancer apy. Participants concurred that much Transplantation, and Novel Therapies; gene, BRCA1. Researchers noted the more work needs to be done in this FA Protein Complexes and DNA need for additional confirmation and promising area. Repair; and Diagnosis and Murine analysis of the FA gene pathway (see Researchers in the laboratory of (Mouse) Models. page 2). Hans Joenje, The Netherlands, have Participants generally agreed that Of therapeutic relevance were find- cloned and characterized the gene for the most significant findings present- ings concerning bone marrow trans- complementation group E. This is the ed at this meeting were the cloning of plant protocols and outcomes for those sixth FA gene to be isolated to date. the FANCD2 gene by Markus with unrelated or mismatched related Your editors include an outline of Grompe, Oregon Health Sciences Uni- donors. Wolfram Ebell, MD, Charity the symposium, giving the name of versity, and the work presented by Alan Hospital, Berlin, presented promising each presenter and the title of his or D’Andrea, Dana Farber Cancer Insti- early results using a protocol which her presentation. Given the tremen- tute, Boston, and others, concerning eliminates irradiation in FA transplant dous volume of this material and its the essential role of FA proteins in patients. Margy MacMillan, MD, Uni- highly technical nature, we have not DNA repair. There is now consider- versity of Minnesota, described post- prepared a Science Letter. If you wish able evidence that FA proteins form a transplant infection problems in FA a copy of one or more of these complex in the nucleus of the cell, that patients and the possibility that com- abstracts, please indicate your request this complex “turns on” the FANCD2 ing to transplant before the white count on the enclosed form and return it to gene, and that this gene plays an is exceedingly low might improve the FA Research Fund office. On behalf of all FA families, the editors give heartfelt thanks to Grover Bagby, Oregon Health Sciences Uni- German Support Group versity and Chair of our Scientific Celebrates 10th Anniversary Advisory Board, for generously giving his time to organize and plan the Sci- The German Support Group, Winter, PhD, Free University of Ams- entific Symposium, and to Hans Joen- founded in 1990 by Ralf and Cornelia terdam, and Schroeder-Kurth. je and his colleagues at the Free Uni- Dietrich, held its 14th family meeting Families also discussed recent fund- versity of Amsterdam, for graciously from October 30 to November 5, 2000 raising results in Germany and the sup- hosting this event. ◆ in Gersfeld, Germany. Over 100 par- port of research projects by the Ger- ticipants, including 25 FA experts and man FA Fund. There was much music, 24 FA families from Germany, Bul- dancing, and many enjoyable activi- garia, Belarus, Russia, Turkey, the US, ties for children and adults. A video Editors’ Note and Disclaimer Italy, The Netherlands and Hungary tape from leaders of FA support groups met to learn and celebrate ten years of in Argentina, Canada, France, Italy, Statements and opinions progress and friendship. Seventeen pre- The Netherlands and the United States expressed in this Newsletter sentations included lectures from Chris congratulated the German Support are those of the authors and not necessarily those of the edi- Walsh, gene therapy; Markus Grompe, Group on ten years of wonderful tors or the Fanconi Anemia the FANCD2 gene; Blanche Alter, FA accomplishments. The program ended Research Fund. Information and cancer; Wolfram Ebell, bone mar- with a special workshop on cancer and provided in this Newsletter row transplantation with fludarabine; leukemia in FA. about medications, treatments and Hans Joenje, the FANCE gene. Our heartiest congratulations to or products should not be con- Traute Schroeder-Kurth, MD, Uni- the German Support Group on its strued as medical instruction or versity of Würzburg, gave an overview 10th anniversary. You have helped scientific endorsement. Always of 35 years of FA research, and Holger enormously to push scientific discov- consult your physician before Hoehn, MD, University of Würzburg, ery ahead, and have been a source of taking any action based on this presented the German FA awards for knowledge and support to all the rest information. 2000 to Grompe, Joenje, Johan de of us! ◆

Spring 2001 15 FUNDRAISING

An Inspirational Gift Event Insurance to our Fund More and more families have been by Vicki Athens holding wonderful events in their com- munities to raise funds for Fanconi February 5 marked the 100th day anemia research. We very much sup- of school, and this meant a celebration port these efforts. However, we have for the students of Owen Elementary been advised by our attorney and our School in Trenton, MI. The children insurance carrier that “event insurance” celebrated the day by bringing in a col- is necessary to protect the sponsoring lection of 100 of something. Hundreds family and the FA Research Fund from of jellybeans and marbles, paper clips liability in the event that a participant and noodles, earrings and Pokemon (at the dance, the auction, golf tour- cards filled the school. nament, etc.) incurs an injury. Many The collection of one child, Nathan hotels will not allow an event to occur Tracy, can inspire us all. Nathan, a sec- on their premises without written doc- ond grader, is a friend of the Athens umentation of such insurance. family, and has participated in various We have talked to our insurance fundraising efforts. Nathan wanted to Nathan Tracy carrier and have found that the best find a way to help his friend Andrew way to handle this is for the sponsor- and others with FA. So, Nathan spoke ing family to determine if a “rider” can to family, friends, neighbors, and peo- and he collected $100 for FA. be purchased on their homeowner’s ple at church. He explained his 100’s We believe the answers to FA are insurance for such a one-time event. day assignment and Fanconi anemia. within our reach. It is our obligation These “riders” are usually quite inex- He asked them to sign his book, and to fund research. When the task of pensive. The Fund would be willing if they would give him $1.00, he would raising funds seems insurmountable, to pay all or part of this expense. In donate it to FA research. Because of Nathan’s example of raising $100 in a addition, if the sponsoring family is the generosity of everyone, Nathan col- weekend can inspire us all. Thanks not able to purchase event coverage lected 100 signatures to take to school, Nate! ◆ through their insurance carrier, the Fund will attempt to make other insur- ance arrangements to cover the poten- On-Line Credit Card tial liability. ◆ Donations On-line credit card donations are FARF Eligible for Combined Federal Campaign now possible on the FA Research Fund Home Page (www.fanconi.org). The FA Research Fund has just nate their contribution to FARF is The Fanconi Anemia Research been notified that we are eligible to 1183. Fund has recently installed an on-line participate in the 2001 Combined Fed- Please make this information payment system with PayPal. Credit eral Campaign (CFC). Our organiza- known to friends and neighbors who card donations can be made through tion will appear in the listing of are employees of the U.S. government. PayPal without leaving the FA Research “National/International Organizations” This is a painless way to allow them Fund web site. Look for the PayPal which is published in each local cam- to earmark their annual giving and to button below the Donations line on paign brochure. The CFC identifica- extend our FARF donor base. ◆ the FARF home page. ◆ tion number donors will use to desig-

16 FA Family Newsletter Coping with Fanconi Anemia Through Knowledge and Fundraising: One Family’s Efforts By Christie Kelley As many of you know, fundraising much information and for the first is a crucial part of funding research in time since Hunter’s diagnosis, we felt hopes of finding a cure for Fanconi like we might be able to move forward anemia. Our six-year-old son, Hunter, with our lives. It was then that we was diagnosed with FA in March of decided that feeling sorry for ourselves 2000. While the diagnosis gave us new would not get us the results that we insight into previous medical prob- wanted for Hunter and others with lems, the news has been devastating. FA. We decided that we wanted to At first, all we could do was cry. make a difference. We really did not know where to turn. Our first fundraising effort grew We had so many questions for our doc- from a neighborhood letter campaign tors and so many of them went unan- into a costume ball/silent auction. As swered. We knew that we had to get as some friends were going door to door educated as possible on FA and the in our neighborhood of 300 homes Hunter Kelley treatments for it. After joining the sup- handing out a letter describing Hun- port group in May, we decided to ter’s diagnosis and asking for a dona- of October. It was really amazing how attend the family meeting in Wiscon- tion to the Fund, a different group of many people were willing to help. sin. That was the best thing we could friends was organizing a costume ball Something small quickly grew into a possibly have done! We gathered so and silent auction to be held the end huge event! With local radio and TV coverage and fliers going home in back- packs from many schools, total strangers were calling wanting to know how they could help. With the help of many friends, we put together a very successful event in about nine weeks. It was a lot of work but it was also a lot of fun! After the event, we felt we had not only raised a great deal of money for research but we had also helped educate the city about FA. Plans are already in the works for The Second Annual Costume Ball and Silent Auc- tion benefiting Hunter Kelley and the Fanconi Anemia Research Fund. We would like to urge everyone to try some form of fundraising. You will be amazed at how easy it is and how Thanks to our Volunteers! many people are willing to help. Even For years FARF has benefited from a dedicated group of volunteers if you start out with something small led by coordinator Arthur Golden. In this picture, Dave Frohnmayer like we did, you may see that it could stops by to thank some of the volunteers as they work hard to send out quickly blossom into something much a fundraising letter. From left to right: Bill Wiley, Roberta Phillips, Arthur more than you ever imagined!! ◆ Golden, Dave Frohnmayer, Mary Ellen Eiler, and Vi Johnson.

Spring 2001 17 Family Fundraising Efforts for the Past Six Months From July 1 to December 31, fam- Mark & Susan Trager Tucker Lovejoy ilies raised $587,242. Our Fund also Mark & Sandy Weiner Dennis & Sharon Lower received $11,620 from the Combined The Welfare Family Greg & Lynnette Lowrimore Federal Campaign and United Way. Susie Mandel Our special thanks to all of you who Up to $1,000 Tom & Marilyn Massino have worked so hard to raise needed Ken & Jeanne Atkinson Jack & Pam McCarty research dollars. Tracy & Melody Austin Steve & Allison McClay An additional $36,530 was donat- John & Audrey Barrow Cecelia Meloling ed in loving memory of children and Mark & Linda Baumiller Lynda Moureau young adults we have lost all too soon Randy & Nancy Bloxom Kenny & Lisa Myhan to this devastating disease. Paul Brodie Louis & Virginia Napoles Tad & DeeDee Burzynski Bob & Alice Nicholson $40,000 & up Brian & Margaret Curtis Ron & Freddi Norris Dave & Lynn Frohnmayer Bill & Pat Danks Lynn & Shirley Quilici Randy & Christie Kelley The Day Family The Russo Family Kevin & Lorraine McQueen James & Carol Dillon The Scaff Family Pat & Mary DiMarino Erik & Lori Salo $20,000 - $39,999 Antonino & Marie DiMercurio Robert & Linda Scullin Andrew & Vicki Athens Paige Ellis Tommy & Brenda Seiford Bill & Jackie Lucarell Fabio Frontani Matt & Diane Senatore Pat & Maria Gleason Calvin & JoAnn Shields $10,000 - $19,999 The Gorga Family Bryan & Karen Siebenthal Michael & Beth Vangel Dave & Paula Guidara Jeff & Debby Slater Mitchell & Tirzah Haik Anne Marie Thorstenson & $5,000 - $9,999 Roger & Eleanor Herman Martin Persson Joseph Chou Eugene & Renee Lemmon Jennifer White Allen Goldberg & Laurie Strongin Rene LeRoux Jeff & Judy Hoffman Charles & Katy Hull Robert & Mary Nori

$1,000 - $4,999 Chris & Susan Collins A Special Word of Thanks Ray & Diane Cronin from our Executive Director Ed & Janice Duffy Gary & Melody Ganz by Mary Ellen Eiler Susan Jackson I want to thank all of you for your from writing letters to their friends and Jeff & Beth Janock exceptional fundraising efforts this past families to holding major fundraising Robert & Jennifer Kiesel year. Thanks to you, we far exceeded events. Whether you raised thousands Eric Kjos-Hanssen & Turid Frislad our fundraising goal for research and or $100 this year, you get lots of cred- Peg LeRoux family support. In fact, FA families it and thanks from me. I can only Deane Marchbein & Stuart Cohen raised 22% more money in 2000 than imagine how hard it is to deal with Gil & Peggy McDaniel in 1999. Not bad! Ten families raised Fanconi anemia. Despite that, you Sheila Muhlen over $10,000 each this last year, and found the strength to rise to the occa- Jack & Lisa Nash several of those ten raised far more than sion to let your friends know about Robert & Andrea Sacks that. But, more importantly, more fam- the need for funds. Thank you very Bill & Connie Schenone ilies than ever took part in fundrais- much. ◆ Jim & Carol Siniawski ing this year—23% more than 1999—

18 FA Family Newsletter New Staff PGD for Fanconi Anemia at the Reproductive Genetics Institute Since the last newsletter, we have continued from page 6 experienced some turnover among our staff. Susan Castillo resigned as Direc- or not, and $2,500 to determine HLA tor of Development at the end of compatibility with the FA patient). December to fulfill her duties as a sen- There are additional costs for medica- ator in the Oregon State Legislature. tion and the IVF procedures. The RGI Joachim Schulz, our Executive Direc- can carry out the in vitro fertilization tor, resigned in July to open a con- and embryo transfer at the Chicago sulting business. He has since become facility. The RGI has relationships with a Director of Development with Holt IVF centers around the world, so that International Adoptions, which is the IVF process can sometimes be done based in Eugene. We miss them both locally, while the genetic analysis is and wish them well in their new done at the Chicago facility. endeavors! For further information Mary Ellen Eiler and contacts: Reproductive Genetics Institute Mary Ellen Eiler was selected by 2825 North Halsted St. the Board of Directors for the Execu- Chicago, IL 60657 tive Director position and began her phone: 773-472-4900 duties at the end of July, 2000. She or 773-296-7095 served on FARF’s Board of Directors FAX: 773-871-5221 from 1997-2000, and was Board Pres- e-mail: [email protected], ident for two years. or [email protected] Mary Ellen retired in 1997 from a Christina Masciangelo, M.S., 31-year career with the state of Ore- Genetic Counselor; gon, first as a regional administrator Allen Horwitz, M.D., Ph.D., for Children’s Services Division and, Director of Medical Genetics; later, as the superintendent for the Ore- Yury Verlinsky, Ph.D., gon Youth Authority. Director of RGI Mary Ellen is an exceptionally hard worker, who devotes countless week- Jill Emerson ends and evenings to our Fund, in additional to her regular work sched- Jill Emerson joined us in early ule. She is well-organized, thorough, December as an administrative and and tenacious. She has a keen intel- Use of Logo family support assistant. She recently lect, and has quickly gained an under- retired from the North Slope Borough standing of the complexities of Fan- This is just a reminder to our FA School District in Barrow, Alaska, coni anemia. We are deeply grateful families: please use our logo or where she had a 25-year career as a for her dedication to this effort, and letterhead only after you have schoolteacher and technology coordi- her willingness to devote her precious consulted the staff of the FA nator. She also worked for the Alaska time to our cause. Research Fund, and received their Department of Education as a co-leader approval. This is necessary to be of the Alaska Math Consortium. Jill sure our messages are accurate received her Bachelors and Masters and consistent. It also helps to degrees at the University of Oregon. avoid legal complications. We are She is delighted to return to the relative happy to collaborate on fundrais- ers and mailings. warmth of Eugene after the many years in Barrow!

Spring 2001 19

The Thirteenth Annual 1801 Willamette St., #200 Eugene, OR 97401 phone: (541) 687-4658 International (800) 828-4891 (USA only) FAX: (541) 687-0548 e-mail: [email protected] FA Scientific Newsletter Editors Lynn & Dave Frohnmayer Symposium Layout and Design Tanya Harvey, Wild Iris Design Staff Executive Director: NOVEMBER 14-17, 2001 Mary Ellen Eiler Family Support Assistant: Jill Emerson Board of Directors Hilton Hotel Barry Rubenstein, JD, President David Frohnmayer, JD, Vice President Portland, Oregon Ruby Brockett, Secretary/Treasurer Vicki Anton-Athens, DPM Deane Marchbein, MD Peter von Hippel, PhD Robert D. Sacks Michael L. Vangel Joyce Owen, PhD, Director Emeritus Lynn Frohnmayer, Advisor to the Board We’ll Miss You, Leslie Scientific Advisory Board Grover C. Bagby, Jr., MD, Chair Leslie Roy resigned from her position as Family Support Coordinator on Manuel Buchwald, PhD, OC March 9. She moved to California to help her aunt, who has early-stage Richard Gelinas, PhD Alzheimer’s. She began work at Orange Coast Community College on March Eva Guinan, MD 15; she also hopes to complete her goal to finish her Bachelor’s degree. Hans Joenje, PhD Leslie worked for three years as our office manager; for the past six years, Christopher Mathew, PhD she has provided support to FA families around the world. Leslie became very Stephen Meyn, MD, PhD knowledgeable about Fanconi anemia, and tirelessly assisted families in their Raymond J. Monnat, Jr., MD Maria Pallavicini, PhD efforts to become better informed. She created e-groups so that families could Leona D. Samson, PhD share knowledge and give support to one another. Families describe Leslie as Kevin M. Shannon, MD compassionate, deeply caring, and extremely helpful. Families could always Neal Young, MD count on Leslie to help them through times of crisis and loss. Leslie devoted much of her life to our families and to this cause, and many of us became her Printing close friends. Image Masters Printers We will miss you, Leslie.

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