FAMILYNEWSLETTER

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

Discoveries Reported ...................2

Gene Therapy Trial to Begin .......2

Bone Marrow TransplantConference Planned .................2

Comparison BetweenComplementation Group andMutations, and ClinicalOutcomes...................................3

Fludarabine-Based Regimen forAlternate Donor Hemato-poietic Cell Transplantation....4

New Promising Vectors for Gene Therapy ............................4

Preimplantation Genetic Diagnosis Articles .....................5

Medical Advice From our E-Mail Group..............................8

Family News....................................9

Fundraising ...................................16

Fanconi AnemiaScientific Symposium

One hundred fifty-six researchers,treating physicians, and fifteen FA par-ents from fourteen countries met inAmsterdam for the Twelfth AnnualInternational FA Scientific Sympo-sium, October 26-29, 2000. Coun-tries represented were Tunisia, France,England, Canada, Spain, Italy, Ger-many, Argentina, Israel, Japan, SouthAfrica, Russia, The Netherlands andthe United States. Fifty-one scientistsand treating physicians gave formalpresentations. Evaluations from atten-dees confirmed, once again, that ourannual scientific meeting is an out-standing investment of our preciousresearch dollars.

Research topics covered six areas:Gene Discovery and Regulation; Can-cer and Leukemia; FA Protein Func-tion and Hematopoiesis; Mosaicism,

Plan to Attend AugustFamily Meeting!

Our 10th annual FA Family Meet-ing is seven months away, but now isthe time to start planning. This year,we will offer a limited number of schol-arships to help families defray traveland lodging expenses (see article, p. 11).

From August 10-14, 2001, FA fam-ilies, treating physicians, and research-ers will meet at the picturesque lake-front setting of Aurora University’sGeorge Williams Lake Geneva cam-pus in Williams Bay, Wisconsin. Wewill learn from our experts, meet andshare experiences with other FA fam-ilies, and relax. Lake Geneva is an easy,two-hour drive from Chicago’s O’Hareairport, or a forty-five minute drivefrom the airports in Milwaukee orMadison, Wisconsin.

We will have two days of scienceand medical presentations on the

HIGHLIGHTS

continued on page 14continued on page 15

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

2 FA Family Newsletter

MEDICAL NEWS

Bone Marrow Transplant Conference Planned

Discoveries ReportedTwo articles concerning FA-relat-

ed discoveries were published on Feb-ruary 23 in the journal, Molecular Cell.“Positional Cloning of a Novel Fan-coni Anemia Gene, FANCD2” byMarkus Grompe, Robb Moses, AlanD’Andrea and collaborators describesthe identification of an FA gene whichplays a crucial role in the FA gene path-way. FANCD2 is also the first FA genefound to be conserved in lower ani-mal species and plants. The discoveryof FANCD2 now means that there areat least eight complementation groups.

“Interaction of the Fanconi Ane-mia Proteins and BRCA1 in a Com-mon Pathway” by Alan D’Andrea,Markus Grompe and collaborators,states that the FANCA, FANCC,FANCF, and FANCG proteins forma complex in the nucleus of the cell.This complex is required for the acti-vation of the FANCD2 protein.

In normal, non-FA cells, theFANCD2 protein plays an importantrole in DNA repair. In normal cellsdamaged by X-rays or other agents,the FANCD2 protein is found in dis-tinct spots (or foci) in the nucleus.These foci are not found in cells fromFA patients regardless of the comple-mentation group. Interestingly, thebreast cancer protein 1 (BRCA1) islocated with the FANCD2 protein inthese same foci after the same kinds ofDNA damage. The FANCD2 proteintherefore provides the missing linkbetween the FA protein complex andthe BRCA1 repair machinery. Dis-ruption of this pathway results in thecellular and clinical phenotype com-mon to all FA complementationgroups. ◆

FA bone marrow transplant expertsfrom around the world will gather inChicago on April 28, 2001, for a one-day conference. Grover Bagby, OregonHealth Sciences University and JohnWagner, University of Minnesota, havegraciously donated their time toorganize this meeting. The conferencewill include approximately twenty-fourtreating physicians who specialize intransplantation and its complications.The small number of attendees andtargeted focus of the meeting shouldassure that this crucial topic isaddressed comprehensively, withample time for discussion. To encour-age open dialogue and a thoroughexchange of ideas, this meeting will

not be open to observers.Short presentations will be followed

by panel discussions. Participants willcover the following topics: matchedsibling donor transplants; unrelatedand related mismatched transplants;sources of stem cells (bone marrow,cord blood and peripheral blood stemcells); and pre- and post-transplantcomplications. The FA Research Fundis sponsoring this conference. We trustthat the sharing of information andopportunity for informal discussionand debate will ultimately produce bet-ter transplant outcomes. Our sincerethanks to donor John Holmes of IceBear, Inc., for making this workshoppossible. ◆

Gene Therapy Trial to BeginA clinical gene therapy trial for

Fanconi anemia will open shortly atIndiana University in conjunction withthe recently formed International Col-laborative Fanconi Anemia Group. Theinstitutions currently involved includeIndiana University, the Fred Hutchin-son Cancer Research Center, and St.Jude Research Hospital, as well as rep-resentatives from Brazil and Germany.The FDA has approved the protocol,and final modifications are now beingsubmitted.

This is a pilot study to evaluate thesafety and feasibility of performing genetherapy on patients with Fanconi ane-mia. A retroviral vector for clinical usewith the FA complementation groupC gene has already been produced atthe National Gene Vector Laboratorylocated at Indiana University. A retro-viral vector for the FA complementation

group A is currently being evaluatedfor clinical use.

The protocol will use retroviral genetransfer to place a normal FA gene intoblood-producing cells obtained from apatient’s bone marrow. Peripheral bloodand stored umbilical cord blood col-lections may also be used as the sourceof blood-producing cells. A retroviralmarker vector will be transferred to asmall portion of the blood-producingcells. Participants in the clinical trialwill be monitored closely for the trans-fer of the FA gene into their blood cells.The fate of the cells corrected with thenormal FA gene and the marker vectorwill be compared to determine the effi-cacy of gene correction. The researchershope that this approach may eventuallycorrect or prevent the bone marrowfailure of Fanconi anemia. ◆

We will perform complementationgroup testing on peripheral blood andbone marrow aspirate samples. Patients,through their own physicians, can sendbone marrow aspirate and blood sam-ples to my lab (see address below).Samples can be sent at room temper-ature and should contain anticoagu-lant such as EDTA for overnight ship-ment. Notification of the lab 1-2 daysbefore shipment would be appreciated.There is no cost to families.

In addition, if patients are under-going tumor biopsy or surgical exci-sion, those samples can also be sent tothe following address:

Dr. Chris WalshRm. 7101 Thurston Bldg.CB#7352Chapel Hill, NC 27599phone: 919-966-9116fax: 919-966-0907e-mail: cwalsh@med.unc.edu

Helmut Hanenberg,MD,Will Do Complemen-tation Analysis for FAFamilies

Helmut Hanenberg will do com-plementation analysis for all knowncomplementation groups. Peripheralblood is the easiest and quickest mate-rial to analyze, although he can use anycell type that can be grown in culture.Hanenberg recommends sending 8 -12 mls of blood because of the longdistance from the United States to Ger-many. There is a likelihood of greaterthan 95 percent of finding the defec-tive gene using his method. At the pre-sent time, there is no cost for this ser-vice. For information on shipping andhandling, contact:

Dr. Helmut HanenbergDepartment of Pediatric

Hematology & Oncology, Children’s Hospital,

Heinrich Heine UniversityMoorenstr. 540225 Duesseldorf, Germanye-mail: Helmut.Hanenberg@uni-

duesseldorf.dephone: 011 49 211 811-6103fax: 011 49 211 811-6436

Chapel Hill, NC Will Perform ComplementationGroup Testing on FA Familiesby Chris Walsh, MD

Spring 2001 3

Christopher Mathew, PhD, Guy’sHospital, London, and collaboratorspublished an article in Blood, Decem-ber 15, 2000, on the associationbetween complementation group andmutation type and the clinical out-come in Fanconi anemia. The authorsstudied 245 patients from all knowncomplementation groups. Diseasemutations were identified in 169patients. The authors noted that FA-G patients had severe bone marrowfailure and a higher incidence ofleukemia. Birth defects or anomalies

were more common in the rare groupsFA-D, FA-E, and FA-F. In FA-A,patients who inherited mutations fromboth parents which knocked out pro-tein production from the FANCA genehad an earlier onset of anemia and ahigher incidence of leukemia thanthose with mutations producing analtered protein. In FA-C, there was alater age of onset of aplastic anemiaand fewer birth defects in patients withthe 322delG mutation; there weremore anomalies in patients with theIVS-4 mutation. ◆

Comparison Between Complementation Groupand Mutations, and Clinical Outcomes

Four Patients Transplanted with Related,Mismatched Donors Do Well

No patient has yet experienced acute orchronic graft-versus-host disease. Thethird patient had post-transplant com-plications (CMV infection and EBVlymphoma) which have been resolved.The number transplanted is very smalland the time, post-transplant, for thefourth patient is inadequate for a fullevaluation. Nevertheless, Boulad isoptimistic about these very promisingresults. ◆

Farid Boulad, MD, Memorial-Sloan Kettering, reports that he hasnow transplanted four FA patientsusing related, mismatched donors. Twowere mismatched at two antigens; twowere mismatched at one antigen. Forthe first patient, this was a secondtransplant; for the subsequent threepatients, it was a first transplant. Datesof transplant were 5/27/98, 3/31/99,1/20/00, and 10/26/00. Except for thepatient receiving a second transplant,patients received total body irradia-tion. Protocols included fludarabineand cyclophosphamide. Three patientsreceived G-CSF-mobilized peripheralblood stem cells and one patient bonemarrow stem cells. All stem cells wereT-cell depleted to prevent graft-versus-host disease.

All four patients engrafted early(between days nine and eleven post-transplant). Immune reconstitutionoccurred at 8 months for the first twoand 12 months for the third. It is toosoon to evaluate the fourth patient. Allfour are alive and well; the first threepatients are alive almost three years,two years and one year post-transplant.

4 FA Family Newsletter

Fludarabine-Based Preparative Regimen for Fanconi PatientsUndergoing Alternate Donor Hematopoietic Cell TransplantationMargaret L. MacMillan, MD and John E. Wagner, MD, University of Minnesota

Until recently, graft failure was themajor obstacle to successful bone mar-row transplantation in patients withFanconi anemia using an alternatedonor (i.e., a donor other than amatched sibling). The risk of graft fail-ure was particularly high in patientswith somatic lymphocytic mosaicism(the presence of >10% lymphocytesinsensitive to DEB). We thought thatthe high rate of graft failure might bepartly due to insufficient suppressionof the immune system. Therefore, wedeveloped a new preparative regimenby adding fludarabine to the com-monly used preparative regimen ofcyclophosphamide, total body irradi-

ation and anti-thymocyte globulin. To date, fourteen patients enrolled

on this new protocol at the Universi-ty of Minnesota can be evaluated. All13 who survived at least one monthpost-transplant successfully engrafted.Seven of the fourteen patients are aliveand free of disease. Opportunisticinfections remain a major complica-tion of bone marrow transplantation.We routinely screen all FA patientsbefore transplantation to identify andtreat any hidden infections. In addi-tion to a high-resolution chest CT andsinus x-ray, all patients are seen by ourInfectious Disease service before trans-plantation. Despite aggressive man-

agement of any suspected or proveninfection, patients with infections priorto transplantation do not do well aftertransplantation. Therefore, it is imper-ative that patients be considered foralternate donor bone marrow trans-plantation as soon as they have metone of the following three criteria:1. Aplastic anemia as defined as hav-

ing at least one of the following:platelet count < 20 x 109/L; ANC< 5 x 108/L; hemoglobin < 8 g/dL.

2. Myelodysplastic syndrome (MDS)with or without chromosomalanomalies.

3. Hematologic malignancy such asacute myeloid leukemia (AML).It takes an average of 3 months to

identify a suitable unrelated bone mar-row donor for a patient. Therefore, itis best if Fanconi anemia patients areseen in consultation early on, preferablyjust as the blood counts begin todecline. This timely consult and ini-tiation of a donor search will enableus to arrange for a transplant as soonas it is necessary, with the goal ofdecreasing the risk of life-threateningopportunistic infections.

At the University of Minnesota weare also very interested in identifyingthe long-term post-transplant issues ofFA patients. Two years ago we con-ducted a pilot study of late effects aftertransplantation and quality of life ofpatients with Fanconi anemia. With thehelp of the Fanconi Anemia ResearchFund, we will be conducting a secondsurvey this spring. We hope that manypatients and families will participate sothat we can learn how we may opti-mize the health and quality of life ofour patients and their families. ◆

New Promising Vectors for Gene TherapyAs the functions of the proteins

encoded by the Fanconi genes are beingidentified, scientists remain increas-ingly optimistic that gene therapy ofbone marrow stem cells might be aneffective treatment for bone marrowfailure in children and adults with Fan-coni anemia. While this kind of ther-apy will not place the normal gene inall cells of the body, Fanconi researchershave high hopes that the bone mar-row abnormalities might resolve.

One of the technical problems withgene therapy for bone marrow stemcells is that the true stem cells are rareand most of them are not activelydividing. Unfortunately, many of thefirst generation retroviral vectors (thepackages that carry genes into the cells)aren’t able to get the gene into any cellunless it undergoes cell division. Now,new vectors are being tested that arecapable of putting the gene into cellsthat are not dividing. Investigators

working with these vectors are seekingto develop evidence that stem cellsfrom patients with Fanconi anemia,particularly those with the A and Ccomplementation groups, can be suc-cessfully treated.

The researchers developing thesevectors are seeking to obtain samples ofbone marrow cells from children andadults with Fanconi anemia type A andtype C. Patients and parents whowould like additional specific infor-mation on these studies and informa-tion on how samples should be pre-pared for shipping to these laboratoriesshould call or write to:

Dr. Grover BagbyDirector OHSU Oregon Cancer

CenterCR1453181 SW Sam Jackson Park RoadPortland, OR 97201phone: 503-494-0524FAX: 503-494-7086

Spring 2001 5

Molecular Testing for Pre-implantation GeneticDiagnosis at The Rockefeller Universityby Arleen Auerbach, PhD

Preimplantation Genetic Diagnosisby John Wagner, MD, Pediatric Bone Marrow Transplant Program, University of Minnesota

Preimplantation Genetic Diagnosis(PGD) allows carriers of a genetic dis-ease to know the health and HLA sta-tus of an embryo prior to achieving apregnancy. Couples who desire addi-tional children and can afford the timeand expense of such a procedure mightconsider PGD.

A family must first be tested forcomplementation group assignmentand specific disease mutations. Thenext step is to obtain HLA typing onthe mother, father, and child affectedwith Fanconi anemia.

The most important step is iden-tifying a good in vitro fertilization(IVF) team. IVF does not have to beperformed at the location of the PGDteam, although that is possible. IVF

first requires daily injections to hyper-stimulate the ovaries. The eggs are har-vested approximately 14 days after ini-tiating the injections. Each of themother’s eggs is fertilized with thefather’s sperm. After two to three days,the cells will have divided about threetimes. At the 8 cell stage, a single cellis removed and tested by the PGDteam. The cell from a well-growingembryo is then tested for Fanconi ane-mia and HLA identity. Embryos thatare HLA matched to the FA patientand free of disease may be used forimplantation. Embryos that are free ofdisease but not HLA matched can alsobe implanted or frozen for laterimplantation, depending upon thedesire of the family. Various options

are possible and should be discussed. Within four weeks after implanta-

tion, a pregnancy test will be per-formed. If the mother is pregnant,chorionic villus sampling (CVS) oramniocentesis will be scheduled to con-firm that the fetus is healthy. In addi-tion, HLA typing will be performed. Ifboth characteristics are confirmed, anarrangement will be made for thecollection and shipment of the umbil-ical cord blood to the transplant cen-ter at the time of birth. A collectionkit and instruction manual will beshipped to the family and/or obstetri-cian directly. On arrival, the cord bloodwill be tested for stem cell number,infectious disease contamination (fromthe delivery process) and HLA (a thirdtime). Prior to transplantation the new-born donor will be evaluated for FAonce again (a third time). These testsare repeated because of their criticalimportance.

Procedural Steps1) Conference with transplant physi-

cian and genetic counselor2) HLA type mother, father and child

affected with Fanconi anemia; con-firm absence of healthy HLA-matched sibling donor

3) Obtain complementation groupassignment and mutation analysis

4) Referral to PGD center5) Referral to IVF center6) CVS/amniocentesis to confirm

health and HLA status of fetus7) Cord blood collection and har-

vesting8) Confirmatory testing on cord

blood/newborn baby9) Transplantation of HLA-matched

umbilical cord blood ◆

For pre-implantation diagnosis with in vitro fertilization (PGD/IVF) forFanconi anemia, it is necessary to use molecular testing for FA detection. Where-as prenatal DEB testing is sensitive for detection of any FA complementationgroup, to do PGD it is necessary to know which of the FA genes is defectivein the family. This is because it is necessary to compare the defective gene inthe affected child to the same gene in the embryo, to determine whether theembryo is also affected with FA. Once the complementation group is determined,detection of at least one of the mutations in the gene that is defective in the patientis helpful for PGD. Polymorphic markers in the defective gene can also be usedto aid in diagnosis by PGD.

Our Laboratory of Human Genetics and Hematology at The Rockefeller Uni-versity is able to help FA families with complementation testing and mutationanlysis who are registered in the International Fanconi Anemia Registry (IFAR)and are participating in our research program. The informed consent formapproved by our Institutional Review Board for the IFAR study allows us to givethe results of complementation studies and mutation testing to families whowant the information, if they have indicated this on the signed form. Our labhas federal and state approval for clinical diagnosis and DNA-based diagnosisfor Fanconi anemia. We charge $650 for DEB testing to confirm the diagno-sis of Fanconi anemia, if it hasn’t already been done by our laboratory. Thereare no other charges to FA families for complementation or mutation analy-sis. E-mail contact: auerbac@mail.rockefeller.edu ◆

6 FA Family Newsletter

New Molecular Diagnostic Services Offered to FA-A FamiliesConsidering Prenatal Genetic Diagnosis (PGD)

genetic markers. This information isthen used by the in vitro laboratory totest fertilized embryos prior to implan-tation. In many cases it will be possi-ble to determine with a very highdegree of accuracy whether or not anembryo has inherited the chromosomescarrying the disease mutations fromeach parent.

GeneDx, Inc. of Rockville, MD, isnow providing linkage analysis to FA-A families in which there is at least oneliving patient with the disease, andboth parents are available for geneticstudies. It is also helpful if there areunaffected siblings of the FA patientwho can be studied, as this can increase

the accuracy of the analysis. The analy-sis is done in the laboratory on DNAobtained from a simple cheek swab,which can be collected at home usingmaterials provided by GeneDx, Inc.At this time, the cost to perform thisanalysis on parents, the FA patient,and any unaffected siblings is $1,500.

GeneDx. Inc. is a full-service genet-ic testing and diagnosis company ded-icated to serving the diagnostic andgenetic counseling needs of individu-als and families with rare hereditarydisorders. For further information con-tact Sherri Bale, PhD, FACMG, Clin-ical Director, GeneDx. Inc. at 240-453-6285. ◆

To date, families pursuing prena-tal genetic diagnosis (PGD) have beenin complementation group C, whichaccounts for 15% of all FA families.This technology has not yet been anoption for patients in FA-A, whichaccounts for 60-65% of FA patients.

For PGD to work, scientists mustexamine one cell in each pre-embryo tosee if it is a normal or FA affected cell.This is relatively easy to do with FA-C.The FANCC gene is of average size. Inaddition, there are six common muta-tions in the FANCC gene which causeFA. Scientists can screen rapidly forthe presence of these six mutations.Almost all FA-C families have thesecommon mutations.

In contrast, the FANCA gene is verylarge. Most of the disease mutationsin this gene are private, or specific toonly one family. There is no rapid,accurate test to locate a family’s spe-cific mutations. Therefore, the muta-tions in FANCA are not amenable tothe same type of analysis as are themutations in FANCC.

Sherri J. Bale, PhD, Clinical Direc-tor of Gene Dx, Inc., states that it ispossible to use genetic markers to deter-mine if one cell is healthy or not.FANCA is on chromosome 16. EachFA carrier has two copies of chromo-some 16, one normal and the othercarrying a disease mutation. Usinggenetic markers, it is possible to deter-mine which chromosome 16 from eachparent was inherited by the FA patient.This approach is often called “linkageanalysis” because scientists are deter-mining which genetic marker is“linked” to the mutation in the gene,without actually identifying the muta-tion itself.

The procedure is very simple. DNAfrom both parents, the FA patient, andany healthy siblings is “typed” at several

Preimplantation Genetic Diagnosis for FanconiAnemia at the Reproductive Genetics Institute

The Reproductive Genetics Insti-tute (RGI) in Chicago, Illinois has hadextensive experience in preimplanta-tion genetic diagnosis (PGD). Theyhave worked with over 1,000 couples.Over 2,000 in vitro fertilization (IVF)cycles have resulted in more than 200healthy children. PGD with IVF andembryo transfer is done as part of anexperimental study.

Over the past two years, the RGIhas included HLA diagnosis ofembryos for the purpose of cord bloodstem cell or bone marrow transplan-tation. The Nash family was their firstsuccessful attempt using PGD whichresulted in a transplant. RGI will con-tinue to offer its services to other FAfamilies.

In the Nash family, the specificmutation in FANCC was known. Thesame techniques can be used withembryos to detect a specific knownmutation in FANCA. When the muta-tion is not known, it is often possible

to use linked genetic markers and fam-ily studies (linkage analysis) to predictif an embryo has inherited both themother’s and the father’s mutations.

RGI is willing to work with fami-lies in complementation groups A andC. Another laboratory must first assigna family to a complementation group.Parents, the FA patient, and unaffect-ed siblings need to be HLA-tissuetyped. It is very useful to the Repro-ductive Genetics Institute if anotherlaboratory has determined a patient’sspecific FA mutations.

In some instances when the specif-ic mutations cannot be determined,the RGI may develop linkage analysisfor a family. This analysis would take8 to 10 weeks. The cost of developinga system to diagnose both FA and HLAin embryos is $4,000.

In addition, the cost is $5000 perin vitro fertilization cycle ($2,500 to de-termine if the embryos are FA affected

continued on page 19

Spring 2001 7

Present Odds for PGDNot Encouraging

We are now aware of four FA-Cfamilies who have attempted PGD atotal of seventeen times. One familyexperienced nine failed attempts. TheNash family has had the only successthus far. As laboratories gain experi-ence, we trust that these numbers willimprove. ◆

Molly Nash UpdateMolly Nash, the first FA patient to

receive a cord blood transplant fol-lowing successful preimplantationgenetic diagnosis (PGD), continues todo well, apart from digestive tract com-plications. Molly’s transplant occurredon October 26, 2000. Her bloodcounts are now completely normal.

Molly has had a feeding tube sinceshe was six months old. In addition,she has complications resulting fromher transplant. Chemotherapy andradiation were very hard on her diges-tive tract, and she also developed apost-transplant adenoviral infection.She has had diarrhea, vomiting andpain on a fairly regular basis since hertransplant. Her infection has cleared,but the digestive tract problems remain.Biopsies do not show graft-versus-hostdisease. Tube feedings and TPN (IVfeedings) provide her nutritional needs,but they also suppress her appetite.The Nashes have learned patience andperseverance from this whole ordealand know that Molly’s digestive prob-lems will take time to resolve.

The Nashes plan to do bone mar-row drives once Molly is out of pro-tective isolation. They hope to raisepublic awareness for FA. Their storyappeared in McCalls Magazine, Peo-ple Magazine, and in the Ladies’ HomeJournal in February. They will be fea-tured in Parenting Magazine in Juneor July. They were on the television

Laurie Strongin Writesof Unsuccessful PGDAttempts

Laurie Strongin has written a verymoving article about her family’sattempts to achieve a pregnancythrough prenatal genetic diagnosis(PGD). Laurie and her husband, AllanGoldberg, attempted this procedurenine times, but were not successful.With considerable detail, Lauriepoignantly chronicles the emotionaland physical toll of their manyattempts. Because of the length of thearticle, it will not be published here.However, anyone wishing to read thisaccount can obtain a copy of Laurie’sarticle through the FA Research Fundoffice. ◆

program 20/20. Molly’s mother, Lisa, writes “We

know how lucky and blessed we arewith two wonderful kids. Now we needto help others who are where we were.We owe that to Molly. We hope to helpFA for many, many years until thereis a cure for this terrible disease, and no

more suffering. That is what we areliving for.”

We thank the Nash family for theircourageous willingness to share theirexperiences and to endure all of therisks of widespread publicity. Aware-ness of FA has been increased dramat-ically as a result. ◆

Adam and Molly Nash

D’Andrea Wins Pediatrics Honor

Alan D’Andrea, MD, HarvardMedical School scientist and FAresearcher, has been awarded the 2001E. Mead Johnson Award. This covet-ed honor, given over the past 60 years,constitutes the highest research prizein pediatrics. We congratulate D’An-drea on this magnificent achievement!Alan writes: “One very positive side ofthis award—I will be able to presenta high profile lecture on Fanconi ane-mia at the annual Pediatrics Meeting inBaltimore in April.”

We are deeply grateful for the effortsof D’Andrea and all FA researchers fortheir labors to raise awareness of FAand to advance FA science. ◆

8 FA Family Newsletter

Medical Advice From our E-Mail Group

Blanche Alter, MD, on FA post-transplant surveillance:

I am a pediatric hematologist/oncologist at the National Cancer Insti-tute (NCI), with a long-standing inter-est in FA. I have recently joined thise-mail list, and would like to respondto the question raised by Mr. Jacksonwith regard to “what is next” for FApatients who have had a successfulbone marrow transplant (BMT). It isclearly very exciting and gratifyingwhen BMT succeeds, provides a curefor aplastic anemia or leukemia, andeliminates the need for transfusionsand/or androgens. However, it mustbe recognized that BMT (or cord stemcell transplant, or even gene therapy)is designed to replace or fix only thebone marrow. The genetic defect inother body organs is not repaired bytransplant.

Unfortunately, as many of the FAfamilies know, one of the long termconcerns after BMT is the possibilityof an increased risk of cancer. In par-ticular, cancers of the head and neckhave been reported following BMT inFA patients, especially cancers of themouth and tongue. The size of the riskand whether there are excess occur-rences of other specific types of can-cers, over and above what is seen inthe untransplanted FA patient, remainunclear. These important questionswill be the focus of studies that arenow in the planning stage here at theNCI.

For now, the consensus recom-mendation of the group of FA expertsconvened by the FARF in 1998, withregard to cancer surveillance, is forclose monitoring of the head and neckwith at least annual dental evaluationslooking for white patches or sores inthe mouth. New symptoms, such aspersistently swollen glands in the neck,persistent pain in the mouth, tongue or

throat, chronic sores inside the mouth,or new white patches on the tongue,gums or cheeks, should be brought toyour caregiver’s attention without wait-ing for the next scheduled check-up.Since little is known about the verylong term outcomes of FA patientswho have had a BMT, each patientshould remain under close medicalobservation. Specific concerns ofpatients and families should be broughtto the attention of their physicians.

John Wagner, MD, on trying toprevent post-transplant fungalinfections:

In general, we recommend discon-tinuing oxymetholone and startingitraconazole one month prior to BMT.Although we have not yet proven itsbenefit, it is hoped that itraconazolewill reduce the risk of fungal infectionafter transplant. This presumes thatthe liver function tests are near normal.

While itraconazole may cause liverproblems, this side effect is reversibleby simply stopping the drug. The alter-native is amphotericin, which has a fargreater likelihood of toxicity. Ampho-tericin can cause kidney problems,which would prevent us from using afull dosage of other crucial drugs.Therefore, itraconazole is recom-mended as a first choice. Amphotericinwould be used if a fungal infectionwere suspected or the patient were con-sidered to be at excessive risk, i.e., col-onized with fungus or a history of fun-gal infection.

John Wagner, MD, on clonalabnormalities:

Monosomy 7 is worrisome. But, inthe absence of any longitudinal study,its real significance for a given patientis hard to predict. In contrast to non-FA patients with monosomy 7 wherea bad course is the rule, this may not

be true for FA patients. Such cytoge-netic clones may come and go. Thebottom line is that we don’t know thetrue significance of monosomy 7.

Nonetheless, closer surveillance isrecommended if a cytogenetic studyreveals a monosomy 7. This meansbone marrow examinations every 4months for a while to see if the clonegoes away spontaneously, progresses(i.e., both in terms of proportions ofcells involved and the addition ofother cytogenetic abnormalities), andalters the way the cells look under themicroscope (i.e., development of my-elodysplasia or leukemia). In my ownexperience, I am suspicious that abnor-malities of chromosomes 1 and 3 maybe as frequent and as ominous, butthis, too, is not proven. Any chromo-some abnormality should be viewed asa call for closer surveillance just as it isfor chromosome 7. ◆

David Williams, MD,will Join Staff atCincinnati Children’sHospital

Dr. David Williams, a pioneer ingene therapy research and well knownto many FA families, has announced hewill be moving to the Children’s Hos-pital Medical Center in Cincinnati inthe upcoming year. He will be teamingup with Dr. Richard Harris of theBlood and Marrow Transplant pro-gram at Cincinnati Children’s Hospi-tal. Dr. Harris has performed morethan 60 related and unrelated donortransplants in children with FA. ◆

Spring 2001 9

FAMILY NEWS

wipe out her immune system. This isvery hard on the parents.

She received her new bone marrowon February 11, 2000. On day +8(Feb.18) her new counts started toshow. This was a day of so much joyand happiness for us as parents. Emilycould not have cared less since she wasexperiencing all of the side effects ofthe chemo and radiation. She had soresin her mouth and through her GI-tract,and couldn’t talk or eat. Day by dayher counts continued to climb. OnMarch 5 she was discharged from thehospital. We were very careful, almostparanoid, about what she did, andwhat or whom she was around. Once

Emily was diagnosed with FA at age4. She was treated with oxymetholoneand then transfusions, as the countsworsened and the medication failed towork. In January, 2000, we left forMinnesota to go to transplant. Thehardest part of the whole process wasleaving our son behind with relativesand being so far from home. Also,knowing what was to come and whatEmily would experience was very tough.The day they gave Emily total bodyirradiation was one of the most emo-tional for us as parents. I can’t describethe feeling you get when you see yourchild strapped into position and haveto walk out, leaving her behind, know-ing that you are allowing someone to

A Successful Unrelated Transplant for EmilyBy Terry & David Estes

Emily Estescontinued on page 11

We are the Samosyuk family fromBelarus, one of the newly independentstates of the former Soviet Union. Wewrite to share our experiences in thehope of helping others, to thank thosewho have helped us, and to establishcontacts with FA families in othercountries.

Our eight-year-old daughter,Nastya, has Fanconi anemia. She wasborn with an extra thumb on her righthand. Later we learned that she hadvery low blood counts, and at the ageof four, she was diagnosed with Fan-coni anemia.

The correct diagnosis was the onlyhelp we got from her doctors. Differentmedical specialists told us openly thatthey didn’t know how to treat this dis-ease. We were desperate. Yet we refused

to simply watch our daughter die. Wetried different things, including alter-native medicine. The results were farfrom good. We kept looking for peo-ple who knew about this disease.

Three years ago, we found the FAResearch Fund on the internet. We gotall the available information, includ-ing newsletters and the FA Handbook,a book that changed our lives com-pletely. All of a sudden we realized thatpeople can cope with this tragic phe-nomenon in their lives. That was a rayof hope. The book was provided bypeople who didn’t even know us andhad probably never even heard ofBelarus. We will always be thankful tothe Frohnmayers and others whohelped write the Handbook.

Family from Belarus Shares Experiencesby Alexander and Valentina Samosyuk, Belarus

Nastya Samosyuk continued on page 13

10 FA Family Newsletter

Greetings to all FA families! I am 31years old, I live in Australia, and I havebeen dealing with FA since the age of six.

When I was ten, I had a bone mar-row transplant at the Prince of WalesChildren’s Hospital, in Sydney, Aus-tralia. My donor was my perfectlymatched brother. At the time of mytransplant, I was given only a 10%chance of survival. This was because Iwas in extremely poor health at thetime, and the fact that this center hadnever done an FA transplant before.

Many complications arose after mytransplant. I suffered severe GVHDfor six months. My body peeled asthough I had third degree burns allover. I lost all my fingernails. I hadsevere thrush which affected themouth, nose and eyes, and I still strug-gle with the side effects of this. I wasfed intravenously through a centralline. However, the line became infect-ed and during surgical removal, itsnapped in half and traveled throughthe aorta to the heart and lungs. Emer-gency surgery was performed to removethe central line. Nine months aftertransplant, I was discharged from thehospital. It took almost two yearsbefore I recovered from the transplantand its complications.

In February 2000, I was diagnosedwith cancer of the esophagus. I wasnot given chemotherapy or radiationbecause of the side-effects, and the greatuncertainty that these would be help-ful. Instead, physicians opted forsurgery. My tumor was 10 cm downin the esophagus, was 5 cm long andcovered the full circumference of theesophagus. During a 6 1/2 hour pro-cedure, physicians removed 3/4 of theesophagus and half of the stomach.They reconnected the remaining stom-ach to the top of the esophagus, usingpart of my small intestine. Doctors

Living in Hope by Janet Graham

were unable to create a stomach valveand consequently I suffer from stom-ach upsets and reflux. The good newsis that I have been free of cancer sincemy surgery.

I keep very busy with my smallbusiness—a computer training serviceand web page design business. I teachin the vocational adult education sec-tor which can prove very challengingat times. I teach people who usuallyhave no computer experience. I runmy business primarily from my home.My main hobby is water color paint-ing, which I find relaxing and ener-gizing. I also like to cook and, ofcourse, eat. My husband does not cur-rently work at a job, but is happy help-ing with the home duties and looking

after our son, Joshua. Joshua will befour in May. He goes to pre-school, isvery active, and loves the outdoors.That I have a son is a miracle in itself!

Living in Hope, Janet ◆

Janet Graham

Lorne Shelson, President of Fan-coni Canada, reports on the accom-plishments of this organization overthe past year. Fanconi Canada helpedfund the research project, Under-standing Fanconi anemia through func-tional analysis of the Fanconi anemia(FA) group C protein, undertaken byDr. Madeleine Carreau of the CentreHospitalier Universitaire de Quebec.Fanconi Canada sent a leading hema-tologist/oncologist to the FA Scientif-ic Symposium in Amsterdam, and hasjoined with the Canadian governmentto fund a Postdoctoral Fellowshipdedicated to FA research. The website(www.fanconicanada.org) providesinformation to FA families andresearchers, and accepts on-line creditcard donations from Fanconi Canadasupporters. The second annual OntarioRegion FA Picnic brought togethermany FA families. The organization

Fanconi Canada Supports Science, Helps Families

distributes a newsletter and brochure. Shelson writes: “We have been run-

ning a race to help science find a cure.We have worked hard to raise fundsand we thank all of you who havehelped with that effort. The progressthat has been made in understandingFA and developing treatments sincefamilies began fundraising for scien-tific research has been truly phenom-enal. We desperately need to push sci-entific discovery ahead vigorously. Forall FA patients, continued research isour best hope.”

Those of you who participate inour e-group know that Annette andLorne Shelson regularly post articlesof great interest and relevance to FAfamilies. Our congratulations andthanks to Fanconi Canada families fortheir hard work, impressive results, anddissemination of important informa-tion to all of us! ◆

Spring 2001 11

In August, 2000, 30 familiesattended the Family Meeting. With anactive group of over 300 FA families,the FA Research Fund would like todouble the number of families attend-ing. However, many FA families areoverwhelmed financially because of themedical 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-ents Bill and Jackie Lucarell, specifi-cally to provide assistance to families toattend the Family Meeting. In addi-tion, the Fund has received a two-yeargrant from Unimed Pharmaceuticalsfor this purpose. Because of these gen-erous donations, the FA Research Fundhas established a scholarship fund fora two-year project to defray the atten-dance and travel costs of families whoneed assistance. Currently, $35,000 isavailable for this project. We will con-tinue to raise funds for this purpose.

Participants first will be encouragedto seek other support, often availablethrough local service organizations.Those still unable to attend withouthelp from the Fund will be eligible forassistance. Priority will be given to thefollowing: newly diagnosed families;those who have never attended a Fam-ily Meeting; those facing an imminentmajor treatment decision for whichthe meeting’s educational programcould be of immediate value; thoseunable to find an equivalent educationand support service in their country; orthose providing special assistance forlanguage-translation or other programsupport at the request of the FamilySupport Coordinator.

The Fund wants to make this pro-gram as accessible to families as possi-ble. If you aren’t certain you meet theabove criteria, we encourage you tocontact the Fund. There could be

Family Meeting Scholarship Project to Defray Costs of Attending our Annual Meeting

special circumstances in your situationthat could enable you to qualify forthe program.

Families will complete a writtenapplication available through the FARFoffice. The Family Support Coordi-nator will convene a small committee

to select scholarship recipients. Fami-ly financial information and the namesof those selected will be confidential.We hope that at least thirty FA fami-lies will receive scholarship assistanceduring the next two years. ◆

she came out of the hospital she neverhad to have a transfusion, has had nomore nosebleeds and no real compli-cations. She did experience a lot ofstomach pain, diarrhea, and a boutwith shingles just before going backhome to Georgia. The few problemsshe experienced were minor for an FApatient. She was and continues to be areal trooper. She never once com-plained or wanted to stop the wholeprocess.

For an 8-year-old she is a verytough little girl. She was on IV fluidsand an NG-tube (a tube which allowsfeeding through a nasal passage) untilwe came home to Georgia in order tokeep her kidneys functioning and tokeep her weight up. After cominghome she was on fluids at night forabout 3-1/2 months. Once they start-ed decreasing her CSA (cyclosporin) at9 month the fluids were graduallydecreased until she was taken off theCSA completely.

At no point through all of this hasEmily shown any signs of GVHD. Sheis now almost one year post-transplantand is on only zantac for reflux (shehas been on this since birth) andbactrim to protect against infection(this will end at one year post-trans-plant). She has normal blood counts.She has more energy than she’s had in

years. We will continue to home schoolEmily for some time, but for the mostpart she is leading a very normal, happylife with no effects from the transplantordeal.

When Emily was diagnosed 5 yearsago we were told that our daughterwould die. We were then told she hada 25% chance if she had an unrelatedtransplant. We were even told by a cou-ple of FA families that if we were wise,we’d not go through with an unrelat-ed transplant due to the bad odds. Welet God direct us and it has been noth-ing less than a miracle for Emily.

We did our homework concerningwhich transplant center and whichtransplanters to choose. We never gaveup hope, and there is hope!! Dr. Wag-ner and Dr. MacMillan are workingtirelessly to achieve better transplantresults and Emily is proof of that.Emily was primarily under Dr.MacMillan’s care the whole time wewere in Minnesota. We couldn’t askfor a sweeter, more knowledgeable per-son to deal with. Emily received thebest of care from the hospital nursingstaff, the BMT clinic personnel, andthe doctors. We can never say howthankful we are to all of them for thecare she received and the ongoing workthey do. Let me end by saying to allof you who are in question of what todo, or feel the devastation we felt: thereis hope, there is hope, there is hope.Never give up! ◆

A Successful Unrelated Transplantcontinued from page 9

12 FA Family Newsletter

I had a very bad viral infectionwhen I was 5 years old and in kinder-garten. I was staying at my AuntieCathie’s at the time, while my dad wasworking and my mom had gone awayon a little vacation. Auntie Cathie hadnoticed that I wasn’t myself and hadtaken me to the doctor to get my bloodtested. I was usually the healthiest inthe family. They took my blood andrealized that I had something very seri-ous and unusual, so they rushed meto the Alberta Children’s Hospital.

It was the day my mom got backfrom her trip. As soon as she got home,there was a message on the answeringmachine saying that I was at the hos-pital and that she had better comequickly! My dad was already there. Iremember the doctor saying, “We’rechecking it out and you might have tostay a night or two.” A night or twoended up being a whole month!

I missed over a year of school whileI was at home with a low immune sys-tem, and I couldn’t go back until myparents took me to the U.S. to get achicken pox vaccination. I returned toschool in grade 1, when I should havebeen in grade 2. Ever since then, I havealways been a year older than my class-mates. I am now in grade 4, I’m 10years old, and living with FA.

I have low hemoglobin, platelets,and white cell counts, just as a usual FApatient would. My platelets are usual-ly between 10 and 15 thousand, so Ihave to be careful not to get injured.Because of low hemoglobin I have hadMANY transfusions! This raises myiron to a dangerous level that coulddamage my heart and other organs, soit is necessary to use a nightly IV nee-dle of Desferal. I really dislike it! I don’tmind the needle, I just don’t like thereason we’re doing it. I also can’t haveas many sleepovers with friends. It takes

a long time to stopthe bleeding in themorning, and Ialways have bruiseson my tummy.

I also get teasedall the time becauseof my deep voicefrom the androgens.Kids don’t realizehow much it hurtsand affects a person.This really seems likethe worst nightmare,and A LOT of thetime it is, but what keeps me going,besides family, friends and God, arethe many great things that have hap-pened in my life!

When I was seven years old, I wasinvited by an actress to stay at her homein Toronto. I watched her do a TVepisode, and tapings of the cartoonSailor Moon, which was my favoriteshow at that time. I was then recog-nized by the Royal Canadian Mount-ed Police (RCMP), as one of their hon-ored patients in a fundraiser for bonemarrow research. Thankfully, sincethen the RCMP have helped us raisemoney for FA on a regular basis!

The hospital included me on theirspecial trip to Disneyland for the day.It was an exciting adventure for the 96children who went along. I was thrilledto have my neighbor who works forAir Canada as my group leader! Herdaughter, Candice, was kind enough togive me private swimming lessons intheir back yard pool, which keeps mesafe from the germs and injuries thatmight happen in a public swimmingpool. I was given an unexpected giftcard from McDonalds, which allowsme to have free French fries anytime.This helps cheer me up on the way tothe hospital.

Life with Fanconi Anemiaby Janelle Redekop, Calgary, Canada

Over the past five years many news-paper and television articles have cov-ered my condition. Personally, I feelcomfortable in front of the camerassince my dream is to be an actress, andthe younger I start the better. I’m alsohoping this will make others moreaware of FA. One of the things I real-ly enjoyed was being a TV Co-host forthe Children’s Hospital Telethon. Ihave just been given the privilege ofbeing chosen the Alberta Children’sHospital Champion Child for 2001.This means that I will be the children’sspokesperson at the hospital’s publicevents and presentations. I then meetup with the other Champion Childrenfrom Canada and the United States atDisneyworld, Florida in April!!

All these things I have mentionedare not as important to me as the won-derful friends I have made during thelong journey of FA. I look forward toseeing them all every summer at theFA camp. This is one place I can trulyhave fun, and be myself! I feel we allrelate to one another in a supportiveand understanding way. This gives methe confidence to go on with my every-day life. ◆

Janelle and Jack Redekop

Spring 2001 13

From left to righte: Pawel Stankiewicz, MD, Warsaw, Poland; Ralf Dietrich, FARF Germany;Alexander Samosyuk and his wife Valentina with their two children Nastya and Irina.

Courtney Dickson6/20/86 – 12/07/00

Wendy Epps10/26/67 – 02/25/01

Jerry Gorga05/01/51 – 11/28/00

In LovingMemory

Ralf Dietrich, the Executive Direc-tor of the FA Fund in Germany, hasplayed an extremely important role inNastya’s life. Three years ago he flew toWarsaw to meet Nastya and our fam-ily. Since then he has been like aguardian angel for Nastya. We appre-ciate his help in arranging tests for ourdaughter. His recommendations donot replace the advice of doctors, buthave been very helpful and effective.Thanks to medicine provided bySchearing Plough, Nastya had verystable blood counts last year. Unfor-tunately, her counts dropped dramat-ically after we tried to reduce the doseof androgens because of serious sideeffects. It took us months to improveher condition again.

Any serious bleeding can changethe whole situation for Nastya, becauseit is extremely difficult to arrangeplatelet transfusions. Each time weneed one, we have to go to Minsk, thecapital city, which is more than 350kilometers 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 andsupportive medicines. None of thedrugs that Nastya needs is available inBelarus. Besides, we are the only FAfamily in the country and we cannotexpect too much attention from doc-tors who are already overwhelmed withmany other children’s diseases causedby the Chernobyl accident.

In such a situation, any familywould probably feel very alone to fightits own problem. We are happy to saythat we don’t have this feeling. Ourfamily is regularly invited to attend FAsupport group meetings in Germany,and learn about the most recentresearch in the field. We feel we arepart of the FA community.

About two years ago, we decidedto have another baby. This decisionwould not have been possible withouthope for a prenatal diagnosis. RalfDietrich arranged for us to have thistest in Germany. Thanks to all thosewho helped us, we have a child whobrings us much joy and happiness. Ifour experience would be of use to anyother family, we invite them to con-

tact us. We would also be glad to hearfrom any family who would like toshare their experience or simply estab-lish contact with us.

Alexander and ValentinaSamosyuk

108/1 Kievskaya Street224020 BrestBelarus

Family from Belaruscontinued from page 9

14 FA Family Newsletter

Rosaleen MoranAbbeytownCaherlistrance, Co. GalwayIreland011 93 31242Bernadette ~ DOB: 12/10/73Frances ~ DOB: 3/23/82,

deceased 1/90

Roberto and Karen Enrieu5 Dalton GardensBelgrave RoadWyken, CoventryEngland CV2 5BYroberto.enrieu@bigfoot.comMichelle

Elizabeth and Graham Walker55 Dunlop CrescentDreghorn, Irvine, AyrshireScotland KA11 4HN011 12 94 217696DOB – 8/29/75, transplanted

8/14/97 matched sibling

Andrew and Jennifer Gough6323 E. LafayetteScottsdale, AZ 85251(480) 663-1749amgough@home.comShannon ~ DOB: 6/27/00

Kees and Roos van StratenGrote Barteldweg 177391 CK TwelloThe Netherlands011 31 571 276924k.vs@planet.nlJordy ~ DOB: 4/13/89Chiara ~ DOB: 7/07/94, sibling

BMT April 1999Selina ~ DOB: 7/12/86

Janet GrahamPO Box 49Fairy MeadowNSW2519 Australia

We Welcome New Families Who Have Joined Our Support Group

Address Corrections to the Directory

weekend, followed by one day of psy-cho/social sessions on Monday. Wehave shortened the entire meeting byone day. Families can choose to attendpart or all of the program.

Presenters will address topics suchas FA 101 (a session for newly diag-nosed families); decision-makingguidelines for timing of treatment deci-sions; long-term clinical management;advancements in bone marrow trans-plantation; prenatal genetic diagnosis;cancer prevention and treatment; genetherapy; and understanding genes anddisease mutations. On our third day,Nancy Cincotta will lead discussionson coping and living with FA. We arealso inviting a nutritionist to discussthe effects of a healthful diet on theimmune system.

Our wonderful volunteers from theMichigan Rotary Youth Group, plusvolunteers who have helped us foryears, will be back this summer. Theymake it possible to offer a compre-hensive, age-appropriate children’s pro-gram during medical presentations andgroup meetings. Evening activities willinclude bonfires, a magic show, andour now-famous karaoke night.

Families have received informationrelated to cost and a pre-registrationform. Contact the FA office for addi-tional information or with questions.

Anyone who has attended a Fami-ly Meeting will agree that this is one ofthe best ways to learn about FA andgain up-to-date medical informationand needed support. We hope to seeyou there! ◆

Plan to Attend Family Meeting!continued from page 1

Johnnie and Debra Byrd2218 14th St. #ATwo Rivers, WI 54241-2851

Kim Frock317 Luther DriveWestminster, MD 21158Listed under Missouri in the

directory

Greg Gill31514 Rolling Meadow Ct.Coarsegold, CA 93614-8713

Joseph and Patricia Grieco61 Dari RoadMiddle Island, NY 11953-2658

Dr. D.M. HalepotoB-No. A8New Wahdat ColonyNyderabad SindhPakistan

Robin Paulson3128 Island DriveRedding, CA 96001Same phone

E-mail Corrections:

Fabio Frontanifabio.frontani@mailcity.com

Charles and Dawn Churchchardawn@xsinet.co.za

Spring 2001 15

Transplantation, and Novel Therapies;FA Protein Complexes and DNARepair; and Diagnosis and Murine(Mouse) Models.

Participants generally agreed thatthe most significant findings present-ed at this meeting were the cloning ofthe FANCD2 gene by MarkusGrompe, Oregon Health Sciences Uni-versity, and the work presented by AlanD’Andrea, Dana Farber Cancer Insti-tute, Boston, and others, concerningthe essential role of FA proteins inDNA repair. There is now consider-able evidence that FA proteins form acomplex in the nucleus of the cell, thatthis complex “turns on” the FANCD2gene, and that this gene plays an

important role in DNA repair. D’An-drea also observed that the FANCD2gene interacts with the breast cancergene, BRCA1. Researchers noted theneed for additional confirmation andanalysis of the FA gene pathway (seepage 2).

Of therapeutic relevance were find-ings concerning bone marrow trans-plant protocols and outcomes for thosewith unrelated or mismatched relateddonors. Wolfram Ebell, MD, CharityHospital, Berlin, presented promisingearly results using a protocol whicheliminates irradiation in FA transplantpatients. Margy MacMillan, MD, Uni-versity of Minnesota, described post-transplant infection problems in FApatients and the possibility that com-ing to transplant before the white countis exceedingly low might improve

transplant outcomes. Presentationsdescribed efforts to improve gene ther-apy. Participants concurred that muchmore work needs to be done in thispromising area.

Researchers in the laboratory ofHans Joenje, The Netherlands, havecloned and characterized the gene forcomplementation group E. This is thesixth FA gene to be isolated to date.

Your editors include an outline ofthe symposium, giving the name ofeach presenter and the title of his orher presentation. Given the tremen-dous volume of this material and itshighly technical nature, we have notprepared a Science Letter. If you wisha copy of one or more of theseabstracts, please indicate your requeston the enclosed form and return it tothe FA Research Fund office.

On behalf of all FA families, theeditors give heartfelt thanks to GroverBagby, Oregon Health Sciences Uni-versity and Chair of our ScientificAdvisory Board, for generously givinghis time to organize and plan the Sci-entific Symposium, and to Hans Joen-je and his colleagues at the Free Uni-versity of Amsterdam, for graciouslyhosting this event. ◆

FA Scientific Symposiumcontinued from page 1

The German Support Group,founded in 1990 by Ralf and CorneliaDietrich, held its 14th family meetingfrom October 30 to November 5, 2000in Gersfeld, Germany. Over 100 par-ticipants, including 25 FA experts and24 FA families from Germany, Bul-garia, Belarus, Russia, Turkey, the US,Italy, The Netherlands and Hungarymet to learn and celebrate ten years ofprogress and friendship. Seventeen pre-sentations included lectures from ChrisWalsh, gene therapy; Markus Grompe,the FANCD2 gene; Blanche Alter, FAand cancer; Wolfram Ebell, bone mar-row transplantation with fludarabine;and Hans Joenje, the FANCE gene.Traute Schroeder-Kurth, MD, Uni-versity of Würzburg, gave an overviewof 35 years of FA research, and HolgerHoehn, MD, University of Würzburg,presented the German FA awards for2000 to Grompe, Joenje, Johan de

German Support Group Celebrates 10th Anniversary

Winter, PhD, Free University of Ams-terdam, and Schroeder-Kurth.

Families also discussed recent fund-raising results in Germany and the sup-port of research projects by the Ger-man FA Fund. There was much music,dancing, and many enjoyable activi-ties for children and adults. A videotape from leaders of FA support groupsin Argentina, Canada, France, Italy,The Netherlands and the United Statescongratulated the German SupportGroup on ten years of wonderfulaccomplishments. The program endedwith a special workshop on cancer andleukemia in FA.

Our heartiest congratulations tothe German Support Group on its10th anniversary. You have helpedenormously to push scientific discov-ery ahead, and have been a source ofknowledge and support to all the restof us! ◆

Editors’ Note andDisclaimer

Statements and opinionsexpressed in this Newsletterare those of the authors andnot necessarily those of the edi-tors or the Fanconi AnemiaResearch Fund. Informationprovided in this Newsletterabout medications, treatmentsor products should not be con-strued as medical instruction orscientific endorsement. Alwaysconsult your physician beforetaking any action based on thisinformation.

16 FA Family Newsletter

FUNDRAISINGAn Inspirational Giftto our Fund by Vicki Athens

February 5 marked the 100th dayof school, and this meant a celebrationfor the students of Owen ElementarySchool in Trenton, MI. The childrencelebrated the day by bringing in a col-lection of 100 of something. Hundredsof jellybeans and marbles, paper clipsand noodles, earrings and Pokemoncards filled the school.

The collection of one child, NathanTracy, can inspire us all. Nathan, a sec-ond grader, is a friend of the Athensfamily, and has participated in variousfundraising efforts. Nathan wanted tofind a way to help his friend Andrewand others with FA. So, Nathan spoketo family, friends, neighbors, and peo-ple at church. He explained his 100’sday assignment and Fanconi anemia.He asked them to sign his book, andif they would give him $1.00, he woulddonate it to FA research. Because ofthe generosity of everyone, Nathan col-lected 100 signatures to take to school,

Event InsuranceMore and more families have been

holding wonderful events in their com-munities to raise funds for Fanconianemia research. We very much sup-port these efforts. However, we havebeen advised by our attorney and ourinsurance carrier that “event insurance”is necessary to protect the sponsoringfamily and the FA Research Fund fromliability in the event that a participant(at the dance, the auction, golf tour-nament, etc.) incurs an injury. Manyhotels will not allow an event to occuron their premises without written doc-umentation of such insurance.

We have talked to our insurancecarrier and have found that the bestway to handle this is for the sponsor-ing family to determine if a “rider” canbe purchased on their homeowner’sinsurance for such a one-time event.These “riders” are usually quite inex-pensive. The Fund would be willingto pay all or part of this expense. Inaddition, if the sponsoring family isnot able to purchase event coveragethrough their insurance carrier, theFund will attempt to make other insur-ance arrangements to cover the poten-tial liability. ◆

Nathan Tracy

FARF Eligible for Combined Federal Campaign

and he collected $100 for FA. We believe the answers to FA are

within our reach. It is our obligationto fund research. When the task ofraising funds seems insurmountable,Nathan’s example of raising $100 in aweekend can inspire us all. ThanksNate! ◆

On-Line Credit CardDonations

On-line credit card donations arenow possible on the FA Research FundHome Page (www.fanconi.org).

The Fanconi Anemia ResearchFund has recently installed an on-linepayment system with PayPal. Creditcard donations can be made throughPayPal without leaving the FA ResearchFund web site. Look for the PayPalbutton below the Donations line onthe FARF home page. ◆

The FA Research Fund has justbeen notified that we are eligible toparticipate in the 2001 Combined Fed-eral Campaign (CFC). Our organiza-tion will appear in the listing of“National/International Organizations”which is published in each local cam-paign brochure. The CFC identifica-tion number donors will use to desig-

nate their contribution to FARF is1183.

Please make this informationknown to friends and neighbors whoare employees of the U.S. government.This is a painless way to allow themto earmark their annual giving and toextend our FARF donor base. ◆

Spring 2001 17

Thanks to our Volunteers!For years FARF has benefited from a dedicated group of volunteers

led by coordinator Arthur Golden. In this picture, Dave Frohnmayerstops by to thank some of the volunteers as they work hard to send outa fundraising letter. From left to right: Bill Wiley, Roberta Phillips, ArthurGolden, Dave Frohnmayer, Mary Ellen Eiler, and Vi Johnson.

As many of you know, fundraisingis a crucial part of funding research inhopes of finding a cure for Fanconianemia. Our six-year-old son, Hunter,was diagnosed with FA in March of2000. While the diagnosis gave us newinsight into previous medical prob-lems, the news has been devastating.

At first, all we could do was cry.We really did not know where to turn.We had so many questions for our doc-tors and so many of them went unan-swered. We knew that we had to get aseducated as possible on FA and thetreatments for it. After joining the sup-port group in May, we decided toattend the family meeting in Wiscon-sin. That was the best thing we couldpossibly have done! We gathered so

Coping with Fanconi Anemia Through Knowledge and Fundraising: One Family’s EffortsBy Christie Kelley

much information and for the firsttime since Hunter’s diagnosis, we feltlike we might be able to move forwardwith our lives. It was then that wedecided that feeling sorry for ourselveswould not get us the results that wewanted for Hunter and others withFA. We decided that we wanted tomake a difference.

Our first fundraising effort grewfrom a neighborhood letter campaigninto a costume ball/silent auction. Assome friends were going door to doorin our neighborhood of 300 homeshanding out a letter describing Hun-ter’s diagnosis and asking for a dona-tion to the Fund, a different group offriends was organizing a costume balland silent auction to be held the end

Hunter Kelley

of October. It was really amazing howmany people were willing to help.Something small quickly grew into ahuge event! With local radio and TVcoverage and fliers going home in back-packs from many schools, totalstrangers were calling wanting to knowhow they could help. With the help ofmany friends, we put together a verysuccessful event in about nine weeks.It was a lot of work but it was also a lotof fun! After the event, we felt we hadnot only raised a great deal of moneyfor research but we had also helpededucate the city about FA. Plans arealready in the works for The SecondAnnual Costume Ball and Silent Auc-tion benefiting Hunter Kelley and theFanconi Anemia Research Fund.

We would like to urge everyone totry some form of fundraising. You willbe amazed at how easy it is and howmany people are willing to help. Evenif you start out with something smalllike we did, you may see that it couldquickly blossom into something muchmore than you ever imagined!! ◆

18 FA Family Newsletter18 FA Family Newsletter

From July 1 to December 31, fam-ilies raised $587,242. Our Fund alsoreceived $11,620 from the CombinedFederal Campaign and United Way.Our special thanks to all of you whohave worked so hard to raise neededresearch dollars.

An additional $36,530 was donat-ed in loving memory of children andyoung adults we have lost all too soonto this devastating disease.

$40,000 & upDave & Lynn FrohnmayerRandy & Christie KelleyKevin & Lorraine McQueen

$20,000 - $39,999Andrew & Vicki AthensBill & Jackie Lucarell

$10,000 - $19,999Michael & Beth Vangel

$5,000 - $9,999Joseph ChouAllen Goldberg & Laurie StronginJeff & Judy HoffmanCharles & Katy HullRobert & Mary Nori

$1,000 - $4,999Chris & Susan CollinsRay & Diane CroninEd & Janice DuffyGary & Melody GanzSusan JacksonJeff & Beth JanockRobert & Jennifer KieselEric Kjos-Hanssen & Turid FrisladPeg LeRouxDeane Marchbein & Stuart CohenGil & Peggy McDanielSheila MuhlenJack & Lisa NashRobert & Andrea SacksBill & Connie SchenoneJim & Carol Siniawski

Mark & Susan TragerMark & Sandy WeinerThe Welfare Family

Up to $1,000Ken & Jeanne AtkinsonTracy & Melody AustinJohn & Audrey BarrowMark & Linda BaumillerRandy & Nancy BloxomPaul BrodieTad & DeeDee BurzynskiBrian & Margaret CurtisBill & Pat DanksThe Day FamilyJames & Carol DillonPat & Mary DiMarinoAntonino & Marie DiMercurioPaige EllisFabio FrontaniPat & Maria GleasonThe Gorga FamilyDave & Paula GuidaraMitchell & Tirzah HaikRoger & Eleanor HermanEugene & Renee LemmonRene LeRoux

Tucker LovejoyDennis & Sharon LowerGreg & Lynnette LowrimoreSusie MandelTom & Marilyn MassinoJack & Pam McCartySteve & Allison McClayCecelia MelolingLynda MoureauKenny & Lisa MyhanLouis & Virginia NapolesBob & Alice NicholsonRon & Freddi NorrisLynn & Shirley QuiliciThe Russo FamilyThe Scaff FamilyErik & Lori SaloRobert & Linda ScullinTommy & Brenda SeifordMatt & Diane SenatoreCalvin & JoAnn ShieldsBryan & Karen SiebenthalJeff & Debby SlaterAnne Marie Thorstenson &

Martin PerssonJennifer White

Family Fundraising Efforts for the Past Six Months

A Special Word of Thanks from our Executive Directorby Mary Ellen Eiler

I want to thank all of you for yourexceptional fundraising efforts this pastyear. Thanks to you, we far exceededour fundraising goal for research andfamily support. In fact, FA familiesraised 22% more money in 2000 thanin 1999. Not bad! Ten families raisedover $10,000 each this last year, andseveral of those ten raised far more thanthat. But, more importantly, more fam-ilies than ever took part in fundrais-ing this year—23% more than 1999—

from writing letters to their friends andfamilies to holding major fundraisingevents. Whether you raised thousandsor $100 this year, you get lots of cred-it and thanks from me. I can onlyimagine how hard it is to deal withFanconi anemia. Despite that, youfound the strength to rise to the occa-sion to let your friends know aboutthe need for funds. Thank you verymuch. ◆

Spring 2001 19

New StaffSince the last newsletter, we have

experienced some turnover among ourstaff. Susan Castillo resigned as Direc-tor of Development at the end ofDecember to fulfill her duties as a sen-ator in the Oregon State Legislature.Joachim Schulz, our Executive Direc-tor, resigned in July to open a con-sulting business. He has since becomea Director of Development with HoltInternational Adoptions, which isbased in Eugene. We miss them bothand wish them well in their newendeavors!

Mary Ellen Eiler

Jill Emerson

Jill Emerson joined us in earlyDecember as an administrative andfamily support assistant. She recentlyretired from the North Slope BoroughSchool District in Barrow, Alaska,where she had a 25-year career as aschoolteacher and technology coordi-nator. She also worked for the AlaskaDepartment of Education as a co-leaderof the Alaska Math Consortium. Jillreceived her Bachelors and Mastersdegrees at the University of Oregon.She is delighted to return to the relativewarmth of Eugene after the many yearsin Barrow!

Mary Ellen Eiler was selected bythe Board of Directors for the Execu-tive Director position and began herduties at the end of July, 2000. Sheserved on FARF’s Board of Directorsfrom 1997-2000, and was Board Pres-ident for two years.

Mary Ellen retired in 1997 from a31-year career with the state of Ore-gon, first as a regional administratorfor Children’s Services Division and,later, as the superintendent for the Ore-gon Youth Authority.

Mary Ellen is an exceptionally hardworker, who devotes countless week-ends and evenings to our Fund, inadditional to her regular work sched-ule. She is well-organized, thorough,and tenacious. She has a keen intel-lect, and has quickly gained an under-standing of the complexities of Fan-coni anemia. We are deeply gratefulfor her dedication to this effort, andher willingness to devote her precioustime to our cause.

Use of LogoThis is just a reminder to our FAfamilies: please use our logo orletterhead only after you haveconsulted the staff of the FAResearch Fund, and received theirapproval. This is necessary to besure our messages are accurateand consistent. It also helps toavoid legal complications. We arehappy to collaborate on fundrais-ers and mailings.

or not, and $2,500 to determine HLAcompatibility with the FA patient).There are additional costs for medica-tion and the IVF procedures. The RGIcan carry out the in vitro fertilizationand embryo transfer at the Chicagofacility. The RGI has relationships withIVF centers around the world, so thatthe IVF process can sometimes be donelocally, while the genetic analysis isdone at the Chicago facility.

For further information and contacts:

Reproductive Genetics Institute2825 North Halsted St.Chicago, IL 60657phone: 773-472-4900 or 773-296-7095FAX: 773-871-5221e-mail: horwitz@uic.edu, or rgi@flash.net Christina Masciangelo, M.S.,

Genetic Counselor; Allen Horwitz, M.D., Ph.D.,

Director of Medical Genetics; Yury Verlinsky, Ph.D.,

Director of RGI

PGD for Fanconi Anemia at theReproductive Genetics Institutecontinued from page 6

20 FA Family Newsletter

1801 Willamette St., #200Eugene, OR 97401phone: (541) 687-4658

(800) 828-4891 (USA only)FAX: (541) 687-0548e-mail: info@fanconi.org

Newsletter Editors Lynn & Dave Frohnmayer

Layout and DesignTanya Harvey, Wild Iris Design

StaffExecutive Director:Mary Ellen Eiler

Family Support Assistant:Jill Emerson

Board of DirectorsBarry Rubenstein, JD, PresidentDavid Frohnmayer, JD, Vice PresidentRuby Brockett, Secretary/TreasurerVicki Anton-Athens, DPMDeane Marchbein, MDPeter von Hippel, PhDRobert D. SacksMichael L. VangelJoyce Owen, PhD, Director EmeritusLynn Frohnmayer, Advisor to the Board

Scientific Advisory BoardGrover C. Bagby, Jr., MD, ChairManuel Buchwald, PhD, OCRichard Gelinas, PhDEva Guinan, MDHans Joenje, PhDChristopher Mathew, PhDStephen Meyn, MD, PhDRaymond J. Monnat, Jr., MDMaria Pallavicini, PhDLeona D. Samson, PhDKevin M. Shannon, MDNeal Young, MD

PrintingImage Masters Printers

�The Thirteenth Annual

International FA ScientificSymposium

NOVEMBER 14-17, 2001

Hilton HotelPortland, Oregon

We’ll Miss You, LeslieLeslie Roy resigned from her position as Family Support Coordinator on

March 9. She moved to California to help her aunt, who has early-stageAlzheimer’s. She began work at Orange Coast Community College on March15; she also hopes to complete her goal to finish her Bachelor’s degree.

Leslie worked for three years as our office manager; for the past six years,she has provided support to FA families around the world. Leslie became veryknowledgeable about Fanconi anemia, and tirelessly assisted families in theirefforts to become better informed. She created e-groups so that families couldshare knowledge and give support to one another. Families describe Leslie ascompassionate, deeply caring, and extremely helpful. Families could alwayscount on Leslie to help them through times of crisis and loss. Leslie devotedmuch of her life to our families and to this cause, and many of us became herclose friends.

We will miss you, Leslie.