fa newsletter 3/02the second patient with an unrelated donor rejected the first graft. a second...

#31 A Semi-annual Publication of the Fanconi Anemia Research Fund, Inc. Spring 2002

Adult Stem Cells Hold Promise ............................2

FA and Cancer Conference ........3

Evidence for AdditionalComplementation Groups .....5

The Androgen Issue: Some Reflections......................6

NCI Study Launched on RareInherited Bone Marrow FailureDisorders and Cancer Risk....8

Family News.................................10

FA Support Groups ...................15

Creative Fundraising .................17

Family Meeting 2002This year’s Family Meeting will be

held Friday, August 9, until Tuesdaymorning, August 13, at Camp Sun-shine in Casco, Maine. The camp islocated on beautiful Lake Sebago andis a 45-minute drive from the airportin Portland, Maine.

The Family Meeting provides theopportunity for families to attendscientific presentations by physiciansand researchers discussing current,important issues in the research andtreatment of Fanconi anemia. Topics

HIGHLIGHTS

Fanconi Anemia Scientific SymposiumOne hundred thirty-five research-

ers and treating physicians and tenFA parents met in Portland, Oregon,for the Thirteenth Annual Interna-tional FA Scientific Symposium,November 14–17, 2001. Countriesrepresented were Canada, France,The Netherlands, England, Spain,Germany, Italy, Israel, Brazil, Japan,and the United States. Forty-threeresearchers and treating physiciansmade formal presentations. Evalua-tions from the participants rated thisas an outstanding symposium.

Research topics covered six areas:Diagnosis and Epidemiology;Animal Models; FA Protein Functionand Hematopoiesis; FA ProteinComplexes and DNA Repair; BoneMarrow Transplantation; and GeneTherapy.

Highlights included a number ofpresentations on the function of theFA proteins and how they are regu-lated and interact with one another.Scientists also presented theirresearch on gene therapy for FA andon the results of their efforts toreduce the toxicity for FA patientsundergoing bone marrow transplant.

Included as an insert in thisnewsletter is an outline of the Sym-posium presentations, giving thename of the presenter and the title ofhis or her presentation. If you wouldlike a copy of one or more of theseabstracts, please indicate your requeston the enclosed form and return it tothe FA Research Fund office. ◆

continued on page 20

FA FAMILYNEWSLETTER

2 FA Family Newsletter

MEDICAL NEWSAdult Stem Cells Hold Promise

FA patients, including those whosurvive bone marrow transplantation,are at high risk for developing solidtumor malignancies. CatherineVerfaillie, MD, director of the StemCell Institute at the University ofMinnesota, believes that multipotentadult stem cells (MASC) may correctcells other than bone marrow cells inFA patients.

Verfaillie has been studying thisspecial type of cell since 1997. Thesecells can now be isolated from thebone marrow. They are specialbecause they can be grown in largequantities, can differentiate into avariety of different cells and tissues(e.g., liver, gut, lung), and willengraft in hematopoietic and epithe-lial tissues. When mice are giventhese cells, the MASC cells laterappear in every organ, although insmall quantities. When mice are irra-diated prior to infusion of adult stemcells, the endothelial cells of their GItract show an 8% engraftment ofMASC cells.

Researchers at the University ofMinnesota hypothesize that onecould use an FA patient’s own gene-corrected adult stem cells, or cellsfrom a matching donor, to correctbone marrow and other tissues in thebody. The University of Minnesotaintends to pursue human trials ofthese cells initially in patients withHurler’s syndrome and FA. ◆

Auerbach Presents 20 Year Update

At the November ScientificMeeting, Arleen Auerbach of TheRockefeller University, New York,gave an update on data collected byThe International Fanconi AnemiaRegistry (IFAR) over the past 20years. A total of 802 FA patients arein the registry; 381 of these patientshave been assigned to specificcomplementation groups.

Sixty percent are in FA-A, 23%in FA-C, and 13% in FA-G. Thesethree groups account for 96% of allIFAR patients typed so far. Only asmall number of patients have beenassigned to FA-D2, FA-E and FA-F.Seventeen patients do not belong toany of the known complementationgroups.

Auerbach analyzed 754 patientsfor cancer incidence (leukemia andsolid tumors) over a 20-year period.This study revealed that 173 patients

(25.8%) developed the first malig-nancy at a median age of 14.5 (range,birth to 48.5 years). These 173patients developed a total of 193malignancies; 12 developed morethan one tumor type. One hundredtwenty (62%) of the malignancieswere hematologic and 73 (39%) werenon-hematologic tumors. Squamouscell carcinoma was the most commonnon-hematologic malignancy identi-fied. The probability of developing amalignancy increases with age and,by 40 years of age, it approaches

continued on page 7

Hadassah Hospital, Israel, Eliminates Irradiation in Transplants

Reuven Or, MD, reported on theresults of seven FA transplantsperformed at Hadassah Hospital,Israel, since 1996. Patients ranged inage from three to thirty-one. Five hadmatched related donors (3 siblings,1 mother, 1 cousin), and two had amatched unrelated donor (MUD).The preparative regimen includedfludarabine, low-dose Cytoxan andanti-lymphocyte globulin (ATG). Ahigher dose of Cytoxan was adminis-tered to one patient in leukemictransformation.

All five patients with matched

related donors survived, includingthe patient with leukemia. Onepatient transplanted from a MUDdied of infection. The second patientwith an unrelated donor rejected thefirst graft. A second successful trans-plant from another unrelated donorwas performed, using fludarabine,busulfan and Campath-1H.

Or concluded that fludarabine-based regimens are most effective inthe conditioning of FA patients. Thiscenter believes that there is no needfor the use of radiation. ◆

Spring 2002 3

FA HandbookAvailable in Spanish

The third edition of FanconiAnemia: A Handbook for Families andTheir Physicians has been translatedinto Spanish. The book is availablethrough the FA Research Fund officeand may also be viewed on the FARFwebsite, www.fanconi.org. ◆

Prenatal Diagnosis for FA

FA and Cancer ConferenceThe FA Research Fund is spon-

soring a conference to encourageresearch into the issue of the solidtumors—primarily head and neck,gynecological, and gastrointestinal—that affect FA patients. Through theleadership of Grover Bagby, MD, thechair of the FARF Scientific AdvisoryBoard, and Blanche Alter, MD,MPH, from the National CancerInstitute, the Fund is convening aone-day meeting of leading cancerexperts in Chicago on April 27,2002. The focus of the meeting willbe to define the issues and to deter-mine the most fruitful and expedientcourse for the Fund to follow toadvance the science relating to these

solid tumors. Eliane Gluckman,MD, from Hôpital St. Louis, Parisand John Wagner, MD, from theUniversity of Minnesota, will attendto discuss post-transplant complica-tions of FA patients. Researchers andclinicians from a number of cancercenters, including Johns Hopkins;Harvard School of Public Health;Dana-Farber Cancer Institute; MDAnderson; University of Chicago;Free University, Amsterdam; Nation-al Cancer Institute; Onyx Pharma-ceuticals; and the Fred HutchinsonCancer Research Center will attendthis meeting to share their expertisewith the Fund regarding this critical-ly important issue. ◆

At the November ScientificMeeting, Sat Dev Batish, PhD, ofThe Rockefeller University, NewYork, gave a presentation on prenataldiagnosis for FA by families partici-pating in the International FanconiAnemia Registry (IFAR). Between1985 and 2001, The RockefellerUniversity tested 80 pregnanciesconceived with the hope of having anunaffected HLA-identical sibling.Fifteen percent of the fetuses testedwere both unaffected and HLA-matched. A few families conceivedmultiple pregnancies before having asuitable sibling donor, while mostfailed to achieve this result.

Preimplantation genetic diagnosiswith in vitro fertilization (PGD/IVF),described in previous newsletters, is anew option for these families. TheRockefeller University is aware of tenIFAR families (four in FA-C; six inFA-A) who have attemptedPGD/IVF for conception of anHLA-matched, unaffected fetus,

resulting in three pregnancies. Oneof these attempts resulted in a cordblood transplant. A second motherhas given birth to a healthy child,and a third mother recently achievedpregnancy. Some families haveattempted this numerous times.

Editor’s note: FARF is aware of twoPGD resources: Reproductive GeneticsInstitute in Chicago, and Wayne StateUniversity, Detroit. ◆

Eliminating Radiation:Transplant Results inGermany

Wolfram Ebell, MD, of Hum-boldt University, Berlin, reported on18 FA transplants at our recentScientific Symposium. By eliminat-ing radiation and Cytoxan, Ebellhopes to reduce secondary tumorsand toxicity. Engraftment is achievedby using fludarabine, high stem celldoses, T-cell antibodies, and low-dose busulfan. Ebell believes busulfanis effective in eradicating host cellsand, therefore, abnormal clones.

Six patients received stem cellsfrom matched sibling donors; twelvehad alternate donors. Nine patientshad severe aplastic anemia, sixpatients had myelodysplastic syn-drome, and three had leukemia at thetime of transplant.

All six patients with matched sib-ling donors, and eight of twelve withalternate donors survive. Of the fourwho died, three died of infection andone of leukemia. Toxicity was verylimited. Five patients suffered graftfailure after the first transplant. Fourof these patients engrafted after thesecond transplant, and one after thethird. Ebell has modified his protocolin an effort to prevent graft failures.Mean follow up post-transplant is 20months. ◆

Wolfram Ebell, MD


John Wagner Reports on Outcomes and RiskFactors for Unrelated Donor Transplants

Between April 1999 and Novem-ber 2001, 27 patients underwent anunrelated donor transplant for FA atthe University of Minnesota Hospi-tal. Of 24 evaluable patients, allengrafted. No patient developedgrade III-IV acute graft-versus-hostdisease (GVHD); three patientsdeveloped chronic GVHD. Survival

Clinical TrialsThe FA Research Fund has started

a program of investigating clinicaltrials to locate those that may be ofbenefit to FA patients. NicoleWestrich of our staff will develop aClinical Trials section for thewww.fanconi.org website, and shewill post current clinical trial infor-mation in subsequent newsletters. Ifyou learn of a trial that you feel maybe of benefit to FA patients, pleasecontact Nicole at [email protected] that she may investigate the trialand publish any promising results forthe benefit of all. ◆

Certain patients, such as those overthe age of 20, are at greater risk andshould consider androgens prior totransplantation.

Based on these results, youngpatients (<20 years) with good organfunction and an HLA matched bonemarrow donor should consider treat-ment with marrow transplantationrather than androgen therapy (this isalso recommended for those with anHLA matched sibling donor).

Patients who are older (>20 years),have an HLA mismatched marrowdonor, or poor organ function, shouldconsider a trial of androgen therapysince these patients have a higher rateof transplant complications. ◆

Acute GVHD in FA Patients Transplanted from HLA Identical Sibling Donors – The Paris Experience

Philippe Guardiola, MD, HôpitalSaint Louis, Paris, discussed the inci-dence and severity of acute graft-ver-sus-host disease (AGVHD) in 37patients transplanted with bone mar-row from HLA identical siblings.Transplants were performed in Parisbetween 1980 and 2000. Guardiolaconcluded that AGVHD is the lead-ing cause of severe illness during thefirst months following transplanta-tion. However, in spite of the highnumber of patients developing this

complication, only three died ofAGVHD during the first 100 dayspost-transplant, all with grade III-IVAGVHD.

Fourteen percent of the patientsdid not develop AGVHD. However,62% developed grade II-IVAGVHD, and 32% developed gradeIII-IV AGVHD. Approximately43% of all patients were resistant tocorticosteroids (resistance defined asunable to control AGVHD with 2mg/kg/day) and required more

aggressive therapy (corticosteroiddosage of 5 or 10 mg/kg/day or ananti T-cell serotherapy) to controlAGVHD.

In an effort to reduce the inci-dence of AGVHD, and because ofthe risk of secondary malignanciespost-transplant, Paris is no longerusing irradiation when transplantingpatients with matched siblingdonors. ◆

depended upon the stage of disease.Patients with advanced myelodysplas-tic syndrome (MDS) or leukemia,history of systemic fungal infection,or gram-negative sepsis had a 13%survival. Sixteen of 18 patients with-out these risk factors survived at twoyears, a survival rate of 86%. Most ofthe patients transplanted in Min-nesota had been on androgens atsome point prior to transplant.

A retrospective analysis of 84patients transplanted with unrelateddonor bone marrow, facilitated bythe National Marrow Donor Pro-gram, was performed to determine ifthere were risk factors that could pre-dict engraftment and survival in FApatients. Factors reducing risk wereyounger age (per decade), pretrans-plant condition, absence of androgentherapy, and use of fludarabine in thepretransplant conditioning regimen.

Wagner concluded that fludara-bine promotes engraftment and thattransplantation prior to the develop-ment of advanced MDS, major infec-tion or use of androgens may have asignificant impact upon survival.

Spring 2002 5

Harris Reports on 10 Alternate Donor Transplants

Gene Therapy TrialPlanned

Frank Smith, MD, Children’sHospital Medical Center, Cincinnati,described an international, multi-center pilot study to determine thesafety, feasibility and efficacy of genetherapy for the treatment of FA. Thestudy will use a retroviral vector totransduce hematopoietic stem cellsobtained from the patient’s bonemarrow, cord blood or mobilizedperipheral blood progenitor cells.This three-year trial plans to enroll10 FA-A patients, and five FA-C orFA-G patients.

Patients eligible for this trial mustbe age 6 or older, in complementationgroups A, C or G, and must havenormal bone marrow cytogenetics(absence of an abnormal clone) forthe previous 12 months. Patientswith myelodysplastic syndrome(MDS) or acute myelogenousleukemia (AML) will not be allowedin the study. Participating centersinclude Children’s Hospital MedicalCenter (Cincinnati), Fred Hutch-inson Cancer Research Center(Seattle), Riley Children’s Hospital(Indianapolis), St. Jude Children’sResearch Hospital (Memphis) andDüsseldorf Children’s Hospital(Germany). Smith anticipates thatthis trial will be open to patientenrollment during the next year. ◆

Website Offers Comprehensive Review of FA

Rick Harris, MD, Children’sHospital Medical Center, Cincinnati,reported on 10 FA patients whounderwent transplantation with analternate (not a matched sibling)donor at his center. The preparativeregimen consisted of low-doseCytoxan, total body irradiation,anti-thymocyte globulin (ATG) andfludarabine. Donor cells were T-celldepleted.

Five patients received bonemarrow; five received peripheralblood stem cells. Only those patients

Hans Joenje, PhD, Free University MedicalCenter, The Netherlands, now suspects thatthere are more than eight FA complementationgroups. His lab has identified 8 cell lines thatdo not appear to belong to any of the previous-ly described groups. Joenje’s best estimate isthat these cell lines may fall into 2 to 4 new

groups, which would imply a total of 10 to 12 FA complementation groups.An estimated 1 out of 25 patients may belong to one of these new groups.Cloning the genes represented by these new groups is important, since thesegenes could shed light on the function of the FA proteins. Joenje’s lab is try-ing to find more patients belonging to these new complementation groups,which will facilitate identification of the corresponding genes. ◆

Evidence for AdditionalComplementation Groups

receiving bone marrow were givencyclosporine post-transplant. Threepatients had a 5/6 match; seven a 6/6match (two of the 5/6 matchedpatients were also mismatched at theC locus). Five patients had previouslyundergone androgen therapy.

Eight of these ten patients arealive from one to 29 months post-transplant. All five patients receivingperipheral blood stem cells are alive,and none of these five experiencedgraft-versus-host disease (GVHD).Of the five patients receiving bonemarrow, three survive. Three of thesepatients experienced significantGVHD. One patient died of grade 3GVHD and aspergillus fungal pneu-monia; another died of earlypulmonary failure. This protocol isbeing modified to eliminate theT-cell add back in bone marrowrecipients in an effort to reduce therisk of GVHD. ◆

Akiko Shimamura, MD, PhD;Lisa Moreau, MS; and AlanD’Andrea, MD, of the Dana FarberCancer Institute have posted a com-prehensive, up-to-date review onFanconi anemia on the GeneClinicswebsite. This lucid resource shouldprove helpful to anyone searchingfor an overview of our currentknowledge concerning disease

characteristics, diagnosis, complemen-tation groups, and therapies for FA.

To access this website, go tohttp://www.geneclinics.org. Firsttime users need to follow a simpleregistration procedure. After you reg-ister, go to GeneClinics and typeFanconi Anemia by the Search box.You’re there! ◆


The Androgen Issue: Some Reflectionsby N.T. Shahidi, M.D., Emeritus Professor, University of Wisconsin Pediatric Hematology/Oncology

Many of you remember Dr. Nasrollah Shahidi, who spoke at our family and scientific meetings prior to his retirementand has guided many physicians, parents and FA patients in devising treatment plans. We asked him to comment on theissue of androgen therapy for patients who lack a matched sibling donor. His response is below:

At a meeting organized by FARFin May 1998, participants agreedthat all newly diagnosed FA patientswithout an HLA-matched siblingdonor should be started onoxymetholone upon onset of bonemarrow failure. Periodic review ofstandard care and necessary changesby consensus are essential for betteroutcomes in any disorder. Recentpreliminary reports indicate that con-ditioning regimens which includefludarabine may result in a signifi-cant improvement in the outcome ofFA patients receiving unrelatedhematopoietic cell transplantation.Since the major benefit was seen pri-marily in those who did not haveadvanced myelodysplasia or priorinfection (standard risk patients), ithas been advocated that, instead ofandrogens, unrelated matched trans-plantations should be performed asstandard therapy for some FApatients.

While the results are encouraging,two-year survival data in a smallnumber of patients does not providea solid foundation for changing the1998 consensus recommendation forstandard care for patients without amatched sibling donor.

It should be pointed out thatablation therapy with radiation andother carcinogenic agents in conjunc-tion with highly immunosuppressiveagents such as fludarabine and ATGin patients receiving T-cell depletedbone marrow would obviously resultin a profound and long-termimmunodeficiency. Aggressive anti-viral and antifungal therapy may pro-tect the patients from infection, butcannot prevent carcinogenic effects

of radiation and Cytoxan on highlycancer- prone FA cells. Adequate cell-mediated immunity is an importantfactor in prevention of proliferationof mutated cells.

A study of 700 patients (1,2) withsevere aplastic anemia, includingFanconi anemia, transplanted in Parisor Seattle showed that the most com-mon post-transplant cancer wassquamous cell carcinoma. Statisticalanalysis revealed that two importantfactors were diagnosis of Fanconianemia and therapy with azothio-prine as an immunosuppressive agentgiven to control GVHD. The squa-mous cell carcinomas occurred 2-1/2to 18 years (median of 8 years) aftertransplantation. Other less seriouspost-transplant complications in FApatients are endocrine disorders andesophagitis, esophageal stenosis, andGVHD.

The current standard of careadvocating the use of androgens isbased on the fact that the vast major-ity of FA patients (approximately75%) respond to androgens. Theresponse to androgens is not an “allor nothing” phenomenon. Somepatients show a rapid and sometimesdramatic response within a shortperiod and may experience abnor-mally high hemoglobin if the andro-gen dosage is not reduced. Othersmay respond to higher dosages andonly after several months.

Some of the androgen-responsivepatients can be maintained onreduced dosages for decades withoutsignificant untoward effect, such aspermanent liver pathology. Somehave become androgen independent.Androgens have been used in the

therapy of FA for the past 45 yearsand have resulted in a significantimprovement in the survival of thesepatients. Many preparations havebeen used in the past. Some of thetestosterone derivatives, such astestosterone esters or fluorinatedpreparations such as Halotestin®, arehighly virilizing and should not beused in children and women. Amongthe so-called anabolic steroids,oxymetholone has proved to be themost effective hemopoietic stimulantand remains the only FDA-approvedandrogen for the therapy of bonemarrow failure syndromes. Danazol,an attenuated androgen withimmunoregulatory properties, iscommonly used in immune throm-bocytopenias, lupus erythematosis,and endometriosis. Some of theandrogen-responsive FA patients mayrespond to Danazol.

Oxymetholone, when judiciouslyused, does not cause any major sideeffects. Blood-filled empty spaces inthe liver, known as peliosis, andhepacellular carcinoma are rare andoccur only in patients who have beenon oxymetholone over several years,in large doses (3). The presence ofhepatitis C and B have been addi-tional factors. Cholstatic jaundiceand elevation of liver enzymes, if theyoccur, are reversible.

In view of the above, we shouldcontinue to use androgens asstandard therapy for those who donot have an HLA-identical sibling.This could allow the androgenresponders many years of hematolog-ic remission and will give the parentstime to select other options such as

continued on page 7

Spring 2002 7

54% for hematologic malignancyand 52% for solid tumors.

Auerbach stated that there are sig-nificant differences between patientsin FA-C and patients in FA-A andFA-G. In FA-C, the age of onset ofhematological problems is younger,and overall survival is generally poor-er. However, there was no significantdifference in overall survival timebetween groups A and G.

FA-C patients were analyzedaccording to their specific mutation.They were divided into three sub-types: (1) patients with IVS4; (2)patients with at least one exon 14mutation; and (3) patients with atleast one exon 1 mutation and noknown exon 14 mutation. The over-all survival for patients in groups 1and 2 compared to group 3 was sig-nificantly worse. ◆

Auerbach Presents 20 Year Updatecontinued on page 2

Patients with RadialRay Deformities NeedFollow-Up CareBy Blanche Alter, MD, MPH

Adults who have radial ray defor-mities may develop painful conse-quences (bone and joint problems,arthritis, etc.) from years of usingtheir hands differently than the restof us. Many of us have been unawareof this problem.

I recently saw an adult with FAwho has had years of wrist pain. Anyof our patients with hand or thumbproblems, whether or not they havehad surgery, ought to see orthope-dists, rehabilitation medicine, orphysiatrists on an ongoing basis, andalso get early and continuous advicefrom physical and occupational ther-apists. Doing surgery, or not doingsurgery, should not be the end of therelationship. ◆

pre-implantation genetic diagnosis,gene therapy, or less toxic approachesto bone marrow transplantation.

We also have to make sure, bydeveloping a detailed guideline forandrogen therapy, to avoid hepaticlesions and to identify the nonand/or poor responders before theonset of severe pancytopenia,advanced myelodysplasia or AML,so they are better candidates forunrelated matched hemopoietic celltransplantation.

Finally, I would like to urge theinterested members of major pedi-atric transplantation centers to createa study group and use mutuallyagreed upon randomized protocolsfor hemopoietic cell transplantationin FA patients. Such an approachwould result in a larger number ofsimilarly treated patients withinshorter periods of time and answerimportant questions such as whetherfludarabine could obviate the needfor radiation. We are dealing with anorphan disorder, and competing for asmall number of patients is good nei-ther for the families nor for medicalprogress.

Selected Readings:“Malignancies after marrow trans-

plantation for aplastic anemia andFanconi anemia: a joint Seattle andParis analysis of results in 700patients.” Blood 87:386-392, 1996.

“Malignancies after hemopoieticstem cell transplantation. Manyquestions. Some answers.” Blood91:1833-1844, 1998.

“A review of the chemistry, bio-logical action and clinical applica-tions of anabolic androgenicsteroids.” Clinical Therapeutics23:1355-1390, 2001. ◆

The Androgen Issue: SomeReflectionscontinued from page 6

Grover Bagby ReceivesDistinguished ServiceAward

At the Presenters’ Dinner at theThirteenth Annual Scientific Sympo-sium, Grover Bagby, Jr, MD, of theOregon Cancer Institute and thechair of the FARF Scientific AdvisoryBoard since its inception, receivedthe Fund’s first Distinguished ServiceAward. Dave Frohnmayer, who pre-sented the award to Bagby, notedthat the award was given with grati-tude and profound appreciation forunparalleled scientific and organiza-tional leadership on behalf of theFanconi Anemia Research Fund andFanconi anemia patients worldwide.In voting to make this award toBagby, members of the Board of

Directors of FARF noted his remark-able professionalism and the selfless-ness with which he provides endlesssupport to the Fund. Board membersalso noted that, despite the fact thatBagby is very much involved inresearch, he clearly keeps the visageof FA patients in the forefront as heprovides leadership in the FAresearch community. Congratulationsand thank you, Dr. Bagby! ◆


NCI Study Launched on Rare Inherited Bone Marrow Failure Disorders and Cancer Risk

The National Cancer Institute(NCI) is launching the largest NorthAmerican study of its kind to focuson people with rare inherited bonemarrow failure syndromes (IBMFS)and their immediate family mem-bers. This study, called the “NCIIBMFS Cohort,” will follow familiesover a long period of time, andexamine the underlying geneticdisorders of those diagnosed withIBMFS and their families, and ana-lyze how certain factors can affect thecourse of these syndromes. Familieswith these disorders are invited tobecome part of the study, since theymay be at a higher risk of cancer.These families can include affectedindividuals and their immediate fam-ily members, as well as surviving rela-tives (in families where the patientmay have passed away) who may becarriers of one of the altered genesrelated to these diseases.

IBMFS, most often diagnosedduring childhood, are relatively raredisorders that involve some form ofaplastic anemia. People with thesesyndromes are at increased risk ofcancer such as leukemia or variousspecific solid tumors. The study willenroll families in which at least onemember has or had an IBMFS suchas FA.

One problem for families livingwith these conditions is the impend-ing threat of cancer in youngpatients, without knowing whether itwill happen or when it will happen.The challenge for researchers isunderstanding why cancer developsin so many people with IBMFS, whyit occurs earlier than in the generalpopulation, and what the role is ofIBMFS genes in carcinogenesis.

“By looking at a large group ofpatients and family members who

may be cancer-prone, we hope tolearn more about these issues, and toevaluate techniques for cancer screen-ing and prevention in this particulargroup,” comments Blanche Alter,MD, MPH, the principal investiga-tor at NCI. Alter has teamed with alarge number of associate investiga-tors in all specialties at the NationalInstitutes of Health and at severalmedical centers in order to provide atruly comprehensive evaluation topersons with these complex,multi-system disorders.

The investigators hope to enrollall North American families withthese syndromes. There will be twosubgroups—those who are seen andevaluated at the NIH Clinical Centerin Bethesda, Maryland (called the“Clinical Center Cohort”) and thosewho provide medical informationbut are not seen at the ClinicalCenter (called the “Field Cohort”).

Affected individuals and their im-mediate family members who cometo the Clinical Center will receivecomprehensive physical and laborato-ry examinations by a team of special-ists, along with information andadvice regarding the management ofany newly identified clinical problemsthat are detected during the course oftheir visit. Due to the high risk ofcancers in this cohort, participantswill be offered age-appropriate, thor-ough cancer surveillance as part of thestudy. At the participants’ request,they will be given the results of clini-cal tests and cancer screening. Thestudy will not provide treatment atthe NIH; patients will be referred totheir physicians for consideration ofany treatments that may be necessary.

For further information about thestudy “Etiologic Investigation ofCancer Susceptibility in Inherited

Bone Marrow Failure Syndromes(IBMFS),” interested individualsmay call 1-800-518-8474 to speakto Lisa Leathwood, the study’sresearch nurse, or send an email [email protected]. Moreinformation is also provided on thestudy website at http://www.marrow-failure.cancer.gov. ◆

Transplant Resultsfrom Curitiba, Brazil

Ricardo Pasquini, MD, Hospitalde Clinicas, Curitiba, Brazil, reportedon a study of 45 FA patients trans-planted at his center. Patients were inaplastic phase, without myelodysplas-tic syndrome (MDS) or leukemia. Allhad HLA compatible relatives (44had matched sibling donors; onedonor was a grandfather). Forty-twopatients were given bone marrow;two received peripheral blood stemcells; one received cord blood. Radia-tion was eliminated from the proto-col. Methotrexate and cyclosporinewere given to prevent graft-versus-host disease (GVHD).

This study compared patient out-comes at decreasing doses of Cytox-an. Eight patients received 120mg/kg of Cytoxan; 19 received 100mg/kg; six were given 80 mg/kg and12 received 60 mg/kg. Four of thosereceiving the highest dosage (50%)survive, compared to all twelve whoreceived the lowest dose. The medianpost-transplant follow-up of the low-est dose group is 15 months, rangingfrom 4 to 32 months.

Pasquini concluded that lowerdoses of Cytoxan were associatedwith better survival, less toxicity, andlower incidence of both acute andchronic GVHD. ◆

Spring 2002 9

“Excellent. Superb meeting.”

“Excellent. My 1st meeting. I was veryimpressed. It ran very smoothly andforum discussions were lively andinteresting.”

From Participants’ Evaluations of the Scientific Symposium

“Excellent. The way the basic scienceand clinical aspects of FA were puttogether was excellent and is astrong point of this meeting.”

“Excellent. Presentations short andprecise.”

“Excellent. You have it about right.”

“I think it is excellent overall. As it wasmy first FARF meeting, I really enjoyedthe mixture of presentations!”

“Excellent format, which fosters inter-actions in informal atmosphere.”

“Again excellent. I have enjoyed the meeting VERYmuch.”

“The meeting included a good balance of researchersrepresenting the different critical objectives of the FARF.”

“Excellent. I like attending this meeting very much. It iswell organized, very reasonable number of attendeeswhere person-to-person interaction is possible.”


FAMILY NEWS

Our story started 4 years agowhen we found out that our 4-year-old son, Marshall, who has no obvi-ous anomalies, had Fanconi anemia.At that point we had decided not tohave any more children. Isn’t it funnyhow life works? Almost 2 years later,I became pregnant again. When Iwas 18 weeks along in my pregnancy,we found out that we were having alittle girl, Amelia Angelica, and thatshe, too, had FA. The ultrasoundshowed that her arms were clubbed.At first, I was devastated. I’m still notsure if it was because she had FA orbecause she had a deformity. I knowhow the world is and how people canbe cruel. But when Amelia arrived onJune 6, 2000, my whole world andperspective changed! There beforeme was the most beautiful little girlI’d ever seen. The funny thing is Ididn’t notice her arms because, nomatter what, she was perfect.

While in the hospital, we discov-ered that she had one well-function-ing kidney and a few holes in herheart, which have since closed. Shealso had bi-radial clubbed hands andmissing thumbs.

Today she is almost 2 and doesn’tlet a thing stop her. She just spent 3months in a cast due to hip dysplasiathat was diagnosed when she was 18-months old. When she gets her castoff, she will spend 18 months inbraces. Amelia will also be havingsurgery soon on her hands to central-ize both of them, which has been atough decision for us. We hope thatwe are making the right decision. Wewill not be having both index fingersrotated, just the right one.

My children consume most of mylife. I don’t work or, at least, I don’tget paid money for my work.Marshall is unable to attend school.We have a homebound teacher who

My Children, My Angelsby Kelly Bennett

comes in 3 times a week. On Thurs-days we travel 90 miles round trip forplatelet transfusions. Amelia has ther-apy 3 times a week with an occupa-tional therapist, physical therapist,and a speech therapist. People ask usdaily how we do it. I really don’tknow how to reply. I am only doingmy job. I love my children. I do itbecause this is what was chosen forme. They are my angels. I truly feelthat I am the special one God haschosen to raise His angels and guidethem the best that I can. ◆

Attending the FA Family Meetingfor the First Timeby Andrea and Matt Morris

Thanks to the scholarship pro-gram provided by FARF, we wereable to attend our first family meet-ing last August in Lake Geneva,Wisconsin. The scholarship providedus with lodging, meals, and reim-bursement for our gas roundtrip.Even though we were there on thescholarship, we were treated just likeeveryone else. We urge anyone whoneeds financial aid in order to attenda family meeting to contact FARF.

Marshall and Amelia Bennett

Clay Williams, Matt, Andrea and DaltonMorris

Our first Fanconi Anemia FamilyMeeting was a wonderful experience!We got to meet so many nice people,who were more than willing to listento us, help us to understand thethings that we have been goingthrough and will be going through,and to share their experience with us.The kids affected with Fanconi wereincredible to watch and to listen to.Their positive attitude and their


Spring 2002 11

Anxious, nervous, excited. Justthree emotions among many othersmy husband Donny and I felt priorto the 2001 Family Meeting. Thiswas to be our first meeting—ourdaughter, Hope, had been diagnosedwith FA in January of 2001.

Upon arrival at Lake Geneva, weimmediately knew we made the rightdecision in attending the meeting.The speakers were fantastic. Theyhelped clarify many of the things wehad read about FA, and they werealways willing to stick around toanswer the numerous questionsmany of the families had after thepresentations.

Just as beneficial to us was theway the families opened their arms tous to share their experiences, grief,joys and frustrations. Through theexperiences of other families the jour-ney of dealing with FA is made somuch easier. You no longer feel alonein fighting this terrible disease.

Donny and I took away two veryimportant things from the FamilyMeeting. The first was fundraising—how important it is to raise money tohelp find a cure for FA. Second, wehad a clearer understanding of whatwe had to do to take care of our littlegirl. We realized just how much ourdoctors did not know or understand

The Burkin Family’s Experienceat the FA Family Meetingby Danielle Burkin

about FA and how important it is tostart asking better questions andpushing them for better answers.

We recommend this camp to any-one who is close to an FA patient,newly diagnosed or not. The feelingthis “family” brings to you is trulyspecial. We look forward to the campsto come and hope that many morefamilies will be able to make it. ◆

On September 26, 2000, Mollyreceived a cord blood transplant fromher newborn brother, Adam. Weprayed that this would be the start ofa new chapter in her life. We wouldhave never guessed that her lifewould be this great 500 days later.She is HEALTHY for all intents andpurposes.

Molly goes to school full-timewithout any restrictions. She belongsto Brownies and Student Counciland is in soccer and dance, which sheloves. She will never be an Olympicsoccer star, but she is having fun any-way. She is learning to ride a horse,which has always been her dream.She is very good at this, and we’vepromised her that she can have herown horse when she is ten.

Molly has more energy than shehas ever had in her life. She nevergets tired and is now able to doeverything that a 7-year-old does.

She is doing great in herfirst year of school, butdoesn’t like going totime out for trying somewords out on Mommythat she learned inschool! Molly picks upevery cold and virusthere is, but the greatthing is that she getsbetter when she is sick.She still isn’t eatingthough, is fed by a feed-ing tube and pump at night, and getsfeedings at school. But she has comesoooooo far! She is in a brace forsevere scoliosis. We pray that thebrace will do its job and no surgerywill be needed. She is still havingsome liver issues from the transplantbut, with each visit to the bonemarrow doctor, it is getting better.

Molly loves and adores Adammost of the time, except when he is

Molly Nash Updateby Lisa Nash

in her stuff (which is most of thetime). She watches out for him like amother hen. They are adorabletogether and have a bond strongerthan most siblings. We can truly saythat God has blessed us with twomiracles. Not a night goes by that wedon’t thank God, the doctors andnurses, and all the people who prayedfor Molly and Adam for allowing this

Molly Nash with her painting


Hope Burkin


talked with a very precious ladynamed Lynn Frohnmayer and wereamazed as to the knowledge thatLynn possessed about this disease. Itwas during that conversation that wegot the wake-up call concerning theserious nature of Christopher’s situa-tion. Because of the efforts of theFARF, we were able to ask moreintelligent questions of our doctorsand staff. Without constant feedbackfrom FARF and other FA familiesduring those years of androgens andblood transfusion therapy, life wouldhave been miserable. We knew thatat any time we had people we couldcall just to talk concerning bloodcounts, platelets, etc., and that theywould understand what we were talk-ing about. We cannot express howgrateful we are for the FARF, in par-ticular Dave and Lynn Frohnmayerfor their tireless and diligent effortsin making this organization possibleand the annual family meetings thatthey organize. These are a Godsend!!

In closing, we would encourageall parents, whether their child isaffected with FA or not, to cherishand love your child with all yourheart. Spend time with them, lovethem, laugh with them, and cry withthem when they hurt, because thereis no guarantee they will be with youtomorrow. ◆

Long Term Coping With Losing A Childby Mike & Pam McCoury, Burlington, North Carolina

Our precious son, ChristopherMichael McCoury, was diagnosedwith Fanconi anemia in June 1990 atthe age of three. Four years later, inJune 1994, our universe caved in onus when our courageous little 7-year-old warrior took his last breath andpassed away. The chicken pox,which he got about five monthsearlier, was a contributing factor tohis death. It so weakened hisimmune system that, over time, hewas unable to fight off any infectionsthat came his way.

Those last five months he livedwe tried to lead as normal a life aspossible. He would start getting sickmore often and that almost alwaysmeant a stay in the hospital for acouple of days. When we got homefrom the hospital he would ask,“Dad, can we play ball?” Even at 7years of age and battling this disease,he still wanted to TRY to do thingshe enjoyed, even though he knew hewouldn’t have the endurance that heonce had.

It will soon be eight years since welost Christopher. So how do we copewith the long-term effects of all this?Both Pam and I have good days andbad days. Birthdays and holidayscontinue to be a struggle. Losingyour child, especially a child at theage of seven, is not the natural orderof things. You just expect your childto live longer than you. However, ourfaith in God and our continuing tofocus on Him is what has sustainedus through those down times. As weexperience sadness because Christo-pher is not with us, it is turned to joybecause we know that he is sitting onthe lap of Jesus. As much as wewould love for him to be here withus, we also realize that there is nobetter or safer place for him to be.

One of the many things Pam andI have learned through all this is that,when a non-life threatening crisissituation develops, we don’t see it as acrisis but as a minor inconvenienceto our daily lives. Whether it is a jobloss or ruptured water pipes, thesethings are temporary and will pass.Additionally, we understand thesignificance of one sunrise and onesunset every day. Take things oneday at a time and enjoy each day forwhat it is—a miracle and a blessingfrom God.

When people learn that we havelost a child, they almost always avoidthose conversations involving chil-dren or will quickly change the sub-ject for fear that it will hurt us orcause us undue pain. Quite honestly,just the opposite occurs. Nothinggives us more joy than the opportu-nity to talk about Christopher, just asany parent would want to talk abouttheir child. Not giving us that chancewould be denying that he ever exist-ed. And, oh, how Christopher livedthe seven years we had him. How hedid live!!!!

Back in June 1990 when welearned from our doctors that littlewas known about this disease, we feltso alone and isolated. We had noidea how to go about getting infor-mation to learn what it was we wereup against or trying to imagine whatkind of obstacles Christopher wouldhave to overcome later in life. Wecould barely even pronounce thename, let alone do research. Twoweeks later at our next visit to theUNC Hospital in Chapel Hill, ourdoctor gave us a phone number for agroup called the Fanconi AnemiaResearch Fund. He told us that thesefolks were a wealth of informationand could answer our questions. We

Christopher McCoury

Spring 2002 13

Mallory Bowser5/12/73-5/14/01

Patience Lee Curry10/12/78-12/12/01

Morena de Leon10/19/77-1/4/02

Stephen Fitzgerald9/12/91-11/26/01

Nikki Losekamp12/15/87-12/16/01

Travis Massino1/1/81-2/4/02

Simon Rasmussen7/26/01-12/17/01

Nadine Scheloske5/11/82-12/01

Cole Smith9/12/99-11/27/01

In Loving Memory

A Tribute to Nikkiby Beth Losekamp

When I think of my daughterNikki, I remember a beautiful younglady who loved life. Hardly ever didanyone see her without a smile on herface and a book in her hands. She hadadvice on everything. Of course it allmade perfect sense. Wise beyond heryears and just as talented, Nikki was atrue hobbyist if ever there was one. Itruly believe that her passion was inmaking jewelry. She was just startingher own line when she was takenaway. She was planning on donating aportion of the monies made from herjewelry to FARF. Nikki and herfriends were always planning fund-raisers. She “didn’t want her brotherto go through all this hard stuff.”

Nikki was never one to complainabout anything. She always said, “It’sbetter that this happen to me becauseI can handle it. Why should anyoneelse have to deal with it?” Nikkiwas/is everything to me. From theday she was born she gave me more

joy and inner strength thanI ever thought possible.She stole everyone’s heart.So many people have toldme what a “true inspira-tion she is.” She is gonenow, just a day after herfourteenth birthday. Herlittle brother as well as herfather and I are truly lost withouther. Her inspiration will live on. Herzest for life now resides in us; we willhave to live for Nikki. We will haveto keep her smile alive for all to see.

Nikki didn’t want to die so young.She had dreams of her own: growingup, having a large home with lots ofanimals, and living close to an ocean.When the aspergillus planted itsnasty self in her brain we had tomake a lot of unpleasant decisions.Nikki would have fought a very longtime if it weren’t for that. Once itstarted spreading, she went to sleepon a Friday night and did not wake

again. She died on that Sundaymorning at 4:25. I miss her deeply,my best friend. Now God has my“Little Angel Baby” as his friend.Until we meet again Sis. We love you. ◆

miracle to happen. At the same time,we pray for all of the other familieswho have been touched by FA andpray that someday there will nolonger be a disease known as FA. ◆

Molly Nash Updatecontinued from 11

Nikki Losekamp


An Angel Among Usby Chris and Amanda Smith

To know Cole was to know love.He shared his love with everyone hemet. I will never forget when Colewas first diagnosed with FA at theyoung age of 11 months. Chris and Iwere two young parents who werejust getting to know our preciousbaby when our lives began to revolvearound a disease called Fanconi ane-mia. Cole was immediately intro-duced to a world of doctors, nurses,hospital rooms, and—our leastfavorite—needles. He had blooddraw after blood draw and test aftertest. To our amazement, he handled

all of this with a strength and braverythat few ever know. He would becrying and upset with the nurses oneminute for sticking his arm andsmiling at them the next, becausethat was just Cole. His smile couldmelt the hardest heart.

Cole touched many lives in histwo short years here on earth. Hispresence is still felt by many whoknew him. He taught those aroundhim to never give up. We lost Cole inbody, but not in spirit. His spirit willlive on forever. He was an angel hereon earth as he is now in Heaven.

To Our Precious Angel, Cole:We love you, Momma and Daddy ◆

The Giftby Donna J. Boggs

Children, like packages, come inmany shapes and sizes. Each one isunique and created solely with therecipient in mind. Dad’s eyes, mom’smouth and chin, dad’s hair color, andmom’s sense of humor. Each cell takeson specific characteristics that sepa-rate each child from the other, yet isfashioned in the master’s own image.

The first time I laid eyes on mybaby, Nicholas, he was wrapped in ablanket with a nursery cap on. All Icould see was a beautiful, little roundface. The next time I saw him was inthe neonatal intensive care unit. Hehad undergone surgery to repair atracheal-esophageal fistula. Tubes andwires were going in every direction. Isaw a little black-haired, dark brown-eyed angel who had arms shorterthan the other babies, hands turnedin toward the arms with no thumbs,and four fingers on each hand. Hewas beautiful. I was ecstatic. Theonly place I could kiss was his littletoes, which immediately clampedaround my upper lip. With tears of

joy, I prayed and beggedGod to let him live.

This package is calledFanconi anemia. Thecontents of this package aredifferent on the inside also.His esophagus wasn’tconnected to his stomach.Instead it had grown intohis windpipe. His stomachis extra sensitive. He hadreflux, aspirated easily, andneeded a g-tube forfeedings. He needed atracheotomy so he couldbreathe easier. He had para-lyzed vocal cords and onlyone kidney. He had hydro-cephalus and had to have a ventricu-lar shunt. He also has asthma. He isunderweight and not as tall as othershis age. He is in bone marrow stresswhich will go into failure and requirea bone marrow transplant. He is atrisk of cancer for the rest of his life.

They call these differences anom-alies. I call them wrapping paper,

ribbon, bows, and angel decorations.Each day is blessed. His will is of ironand his heart of gold. His laughtercreates a sparkle in his eyes and inyours. He has a special effect on oth-ers and they never forget his sweetdisposition. I will always treasure thisprecious gift created just for us. ◆

Nicholas and Spencer Boggs

Spring 2002 15

FA SUPPORT GROUPS Fanconi Anemia inArgentinaby Cesar Lucero

The Fanconi Anemia Association(AAAF) began in October of 1997.

Because of Argentina’s economicsituation at this time, it has becomeimpossible to ask for any monetarycontribution in our country.However, we provide translation helpfor non-English and non-Frenchspeakers who attend medical meet-ings in Europe. We also assist FAresearch by bringing FA bonemarrow, blood, and cancer tumorsamples to Europe for research by Dr.Haguenauer (Paris) and by Dr. Joenje(The Netherlands). We also provideinformation to physicians fromUruguay, and we send oxymetholoneto Spain. ◆

Italian Association forFanconi AnemiaResearch (AIRFA)by Giovanni Pagano

Established in 1989, AIRFA isaimed at fostering research andpublic information on FA, as well asproviding FA families with reciprocalcontacts and support. AIRFA hascontributed to the Italian FARegistry, and to a number ofinvestigations of Italian and interna-tional researchers. An ongoingEuropean Commission-supportedproject on FA and other geneticdiseases is coordinated and managedby AIRFA. ◆

An Update from Fanconi Canadaby Lorne Shelson

In December, Mary Heath andfamily near Toronto hosted ourannual Holiday Happening. SeveralFA families were in attendance andenjoyed a wonderful eveningtogether.

Last November, members ofFanconi Canada attended anexploratory meeting sponsored by theAnemia Institute for Research andEducation regarding the formation ofa “joint-working group” of individu-als and organizations dedicated to theimprovement of lives for those withanemia. The meeting brought togeth-er the various anemia communities,including thalassemia, sickle cell ane-mia, aplastic anemia, myelodysplasia,celiac and lupus. We explored a num-ber of ways in which we could moveforward to achieve common goals.One particularly exciting initiativehas come out of the working group.

The Canadian Hematology Society’sannual conference will be held inApril in Montreal. The CHS isdevoting this coming year’s confer-ence to “serious” chronic and con-genital anemias, including a lectureon clinical management of FA.

Fanconi Canada has entered intoan agreement with the CanadianInstitutes for Health Research tofund a research fellowship on FA atthe postdoctoral level. The jointlyfunded grant is for $38,500 per yearfor three years.

We are off to a great year infundraising thanks to FA familiesfrom coast to coast in Canada. Weare putting the finishing touches onanother fundraiser for May in Toron-to called MAIN COURSE…MUR-DER featuring a murder mysterydinner theatre and silent auction. ◆

FA in The Netherlands: The Dutch FA Support Groupby Ron Baas

In The Netherlands we haveabout 30 FA families, with patientsranging in age from one to 63. Sever-al patients have had a successful bonemarrow transplant, but there are alsopatients with a mild type of FA whodon’t need a transplant or medica-tion.

The Dutch FA Support Groupwas founded in 1993. Since 1998there has also been a subgroup fromthe VOKK (Foundation for Parents,Children, and Cancer), which is a

large organization for the families ofchildren with cancer. Once a year theDutch FA Support Group comestogether to meet each other and shareexperiences in dealing with FA andto hear speakers on FA research andtreatment.

Every three months the VOKKpublishes a newsletter about childrenand cancer, and this newsletter usual-ly includes one or two pages on Fan-coni anemia. ◆


News from the French Fanconi Associationby Sylvette Silverston

The AFMF (French Fanconi Association) was founded in 1990 throughthe efforts of several families whose children were affected by this seriousdisease. The purposes of the Association are to assist families through anewsletter published three or four times a year, family support, and throughraising funds for medical research. The Association collects donations fromfamilies, their acquaintances and companies, and finances research programsin France and abroad. Managers of the association are all volunteersconcerned about this disease because of their children.

The Association counts 50 members in France. Professor Eliane Gluckmanat Hôpital Saint-Louis in Paris follows most of the patients. This hospital isthe most important clinical center in France for Fanconi patients. We are alsoconnected with the other Fanconi associations (American, Italian, Argentine,German and Dutch). Last year, we attended the Scientific Symposium inAmsterdam that was organized by the American association, FARF. ◆

The Deutsche Fanconi-Anaemie-Hilfe by Ralf Dietrich

The Deutsche Fanconi-Anaemie-Hilfe was founded in 1988 andincorporated in 1990. Presently, wehave contact with 120 FA families inGermany and an additional 30 FAfamilies in Switzerland, Denmark,Norway and Russia. No FA supportgroups exist in these countries. InGermany there are 5 local FA officesthat have board members and volun-teers, and one central office that hasan executive director and family sup-port coordinator. The central office islocated in Unna-Sidinghausen. Mostof the families we know personallythrough visits at home or the hospitaland through contact by phone,letters or e-mail.

Each year our organization holdsa 3-4 day meeting that bringstogether families, physicians, andscientists, with more than 100participants from different countries.The program contains a lot ofinformation and fun for everybody,

a special research workshop, andawards to FA scientists who have hadimportant successes in FA researchand treatment.

Our Newsletter FA-Bote ispublished one to two times a year.We are in close contact with other FAsupport groups worldwide andparticipate whenever possible in theirfamily and scientific meetings.Representatives of the DeutscheFanconi-Anaemie-Hilfe give lecturesabout Fanconi anemia at universities,hospitals or in the home towns offamilies who want to inform thepublic. The organization also helpsthose families who are interested inraising funds.

In the past 10 years the DeutscheFanconi-Anaemie-Hilfe has raisedabout 1 million German marks andhas been able to support the purchaseof important testing equipment, aswell as to help cover some personnelcosts and fees at the Universities of

Amsterdam and Würzburg. TheDeutsche Fanconi-Anaemie-Hilfe hasa very close collaboration with differ-ent FA scientists worldwide and hasaided some in obtaining blood, skin,bone marrow and tumor samplesfrom FA patients in order to establishFA cell banks for research. Anotheraccomplishment is the developmentof a special computer program thattracks a patient’s blood counts before,during, and after treatment withandrogens.

The main future goals of theDeutsche Fanconi-Anaemie-Hilfe areto raise more funds to support moreintensive research into the preventionand treatment of cancer andleukemia in FA patients. To visit ourhomepage (German language only),type http://www.fanconi.de. Forcalls, dial 011-49-2308-2111 (besttime 8:00 a.m. to 3:00 p.m. US eastcoast time). ◆

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.

Spring 2002 17

FUNDRAISING

Challenge to FA Families: Harold & Arlene Schnitzer CARE Foundation

I planned a dinner dance. Hardestfundraiser I ever did, but in the endit was worth all the effort. I had agoal to raise at least $10,000, and Iexceeded that goal and raised muchmore. Of course, there were expensesto cover, but in the end I raised wellover $10,000 for FA research.

It took one whole year of plan-ning and preparing, letter writing,many phone calls, and some helpfrom my friends. Picked out a greatplace for a dance. Got a famous ’50sband to play. Sold the tickets for$100.00 a person. Tried to get manybig companies to sponsor tables of10. Had to guarantee the place ahead count of 200. Got about 240people to attend. Unbelievable! Hadto figure out—other than sellingtickets—how else to raise extra fundsfor expenses and the Fund. So Idecided to do an auction and tomake a journal. I had businesses buyadvertisements in this journal, whichwas then given to those who

purchased tickets. The auctioninvolved prizes, so we had to getmany gift items donated frommerchants.

Most important, I would like tosay that fundraising comes from theheart. If you want to do a fundraiser,it’s because you have a true cause(you want to help). My true cause ismy son, Craig, and all his brothersand sisters around the world whohave FA. I was determined to raise asmuch as I could. I gave it my bestshot, and it worked out. If you arefundraising and your heart isn’t in it,you will give up or get discouraged.But just look into your child’s face.Can you quit? Can you honestly giveup? My answer is NO WAY! What’syour answer?

If you have any questions aboutfundraising and if you need help, I’mloaded with ideas. Call me at (631)298-9301. ◆

Fundraising for FA Researchby Connie Schenone

Credit Card DonationsCredit card donations can be

made to the FA Research Fund overthe internet. Look for the PayPalbutton below the Donations line onthe home page of the FARF web site(www.fanconi.org). ◆

The Schenone boys at the fundraiser. Left toright: Jared, 5 1/2; Joe, 15; Craig, 10.

The Fall 2001 FA Family Newslet-ter carried an article on the recentgrant by the FA Research Fund tofund the International FA Transcrip-tome Consortium. Grover Bagby, Jr,MD, from the Cancer Institute ofthe Oregon Health & Sciences Uni-versity, is the Principal Investigatorfor this project, the purpose of whichis to study the causes of bone marrowfailure and leukemia in FA.Transplant centers at the Universityof Minnesota; Children’s Hospital,

Cincinnati; Capetown, South Africa;Curitiba, Brazil; and St. Jude’sHospital, Memphis, are participatingin this project. The FA ResearchFund, through the efforts of Lynnand Dave Frohnmayer, wrote a grantrequest to the Harold & ArleneSchnitzer CARE Foundation ofPortland, Oregon to fund part of thisproject. The CARE Foundationawarded $60,000 to the Fund forthis purpose and has challenged FAfamilies to raise a corresponding

$60,000. We are asking you to helpus meet this challenge. Through thegenerous assistance of three FA fami-lies, we have already reached almostone-half of our goal. Please urge yourfriends and families to help in thisvery important effort by donating tothe FA Research Fund and noting onthe check that the funds are for theCARE Foundation Challenge. ◆


I want to thank all of you foryour exceptional fundraising effortsduring 2001. To the great credit ofFA families, the FA Research Fundraised more money than in years past(a 91% increase from 1998), andmore FA families than ever donatedfunds or asked their families, friendsand acquaintances to donate on theirbehalf. The increase in the numberof families participating in fundrais-ing is of particular importancebecause of the Fund’s great relianceon the fundraising efforts of onlyone family, the Frohnmayers. Byincreasing the numbers of familieswho fundraise, we have begun to

place a more secure foundationunder the Fund.

We continue to put the donationsthat you have made or raised toexcellent use. During 2001, the Fundsponsored regional meetings inMassachusetts, North Carolina, andMaryland and increased the accessi-bility of the FA Family Meeting tofamilies through the Family Scholar-ship Program. We will be continuingboth efforts during 2002. We alsosponsored a highly successful meetingof bone marrow transplanters lastApril in Chicago, funded over$500,000 of research, translated theHandbook into Spanish, and held

another very successful ScientificSymposium. We are most pleased tobe able to report that our accoun-tants recently completed the Fund’saudit for 2001 and reported that ouradministrative expenses continue tobe low—at 7.95% for 2001, which isoutstanding by any measure.

I know that you are all strugglingwith the day-to-day difficulty ofliving with Fanconi anemia. Despitethat—and, no doubt, because ofthat—you have made the effort toraise funds. I am profoundly gratefulfor your commitment to help find acure for this devastating disease. ◆

A Thank You from the Executive Directorby Mary Ellen Eiler

Hunter Kelley

On October 27 and 28, 2001, theHunter Kelley and Fanconi AnemiaGolf Classic and Auction was held,raising over $15,000. The event wasmodeled after last year’s successfulCostume Ball and Auction, but thistime the event was followed by a golftournament the next morning.

Following a video about FA andone celebrating Hunter’s life, the 200guests enjoyed the band and a buffetof wonderful hors d’oeuvres anddesserts while they browsed the 75items on display for the silent auc-tion. The next morning, the golfersenjoyed a continental breakfast. Witha beautiful Toyota Sequoia as a hole-in-one prize, they were anxious to getstarted. After the tournament, every-one enjoyed lunch, followed by thepresentation of prizes for 1st, 2ndand 3rd places. Both days were filledwith fun, and we were truly amazedat everyone’s eagerness to participatein our fundraising efforts. With helpfrom friends and the many local

business people who donated itemsfor the auction, we were able to raiseawareness about FA as well as fundsfor much-needed research. Weencourage everyone to organize afundraising effort. With your help,

our children and loved ones with FAmay have the chance to lead a fulland productive life. The feeling thatyou are making a difference in thefight against Fanconi anemia makesall your efforts worthwhile! ◆

Golf Classic and Auction Raises over $15,000by Christie & Randy Kelley

Spring 2002 19

From July 1 to December 31,2001, families raised $1,666,147.The Fund also received $8,435 fromthe United Way and the CombinedFederal Campaign. Our specialthanks to all of you who have workedso hard to raise vitally importantresearch dollars.

$39,000 and upDave & Lynn FrohnmayerKevin & Lorraine McQueen

$20,000 - $29,999Bill & Jackie Lucarell

$10,000 - $19,999Andrew & Vicki AthensLaurie Strongin & Allen GoldbergRandy & Christie KelleyBill & Connie Schenone

$5,000 - $9,999John & Audrey BarrowJoseph ChouCharles & Katy HullRobert & Andrea Sacks

$1,000 - $4,999Mark & Linda BaumillerChris & Susan CollinsBrian & Margaret CurtisBill & Pat DanksMarie & Antonio DiMercurioEd & Janice DuffyErik Kjos-Hanssen & Turid FrisladJeff & Beth JanockEric & Beth LosekampPeggy & Gil McDanielJack & Lisa NashJohn & Dianne PloetzErik & Lori SaloLinda & Robert ScullinBryan & Karen SiebenthalMark & Susan TragerMichael & Beth VangelMarc & Sandi Weiner

Up to $1,000Lily & Keith BaggettRoger & Sarah BakerKelly BennettDarryl Blecher & Diana FitchRandy & Nancy BloxomJoaquim & Joelle CarvalhoJames ColonPatience CurryDonna DellaRattaCarol & James DillonPat & Mary DiMarinoKim ElzingaFrederic EngelEzat & Laila FaizyarNancy FenaDavid & Mary Ann FiaschettiBeatriz GorisAndrew & Jennifer GoughDorothy GriffinDave & Paula GuidaraIda HodgeJohn & Karilyn KelsonRobert & Jennifer KieselAyala LauferEugene & Renee LemmonPeg LeRouxMike & Myra LewisGayle LicariDennis & Sharon Lower

Col. Gregory & Lt. Col. LynetteLowrimore

Roberta & Glenn MagillDeane Marchbein & Stuart CohenCecelia MelolingGriff & Cecilia MorganAndrea MorrisSheila MuhlenKenny & Lisa MyhanLouis & Virginia NapolesBob & Alice NicholsonRobert & Mary NoriRon & Freddi NorrisLeighsa PerlishMichael & Kay ProctorLynn & Shirley QuiliciMarcia ReardonPaul & Jane RuhrRick & Lynn SabloskyRon & Elesa SchaeferSevert & Beatrice ScoreTommy & Brenda SeifordRichard & Judi SelkeMatt & Diane SenatoreJim & Carol SiniawskiJeff & Debby SlaterChris & Amanda SmithKaren SteingartenRichard & Janice ThomasMelissa & Steve TurnerNanette VannostranThe Family of Lynn Welfare Gerald & Elizabeth Wisz

Family Fundraising Efforts for the Past Six Months

New LogoYou may have noticed a new look

to the newsletter in the form of ournew logo. We would like to thankFunk & Associates of Eugene,Oregon, for donating many hours ofwork and talent toward the creationof this logo and for redesigning ourstationery. We are extremely pleasedwith the artistry and updated lookthat this logo brings to ourpublications. ◆

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.


to be presented will include trans-plantation, endocrinology, genetherapy, orthopedics (for hand andthumb anomalies), and solid tumors.

Interspersed with the scientificpresentations will be psychosocialsessions with Nancy Cincotta, MSW,whose role is so very important inhelping all FA families cope with thisdiagnosis. The meeting also providesfamilies with a chance to networkwith other FA families, have personalcontact with the speakers, and relax.

The children’s program will besupervised by Camp Sunshine volun-teers and will keep the kids busy withnumerous age-appropriate activities.The facility includes an indoorswimming pool, computer center,recreational room, and a playground.

Camp Sunshine accommodates50 families in suites, which sleep 5people. Additional lodging isavailable near Camp Sunshine.Registration will be on a first-come,first-served basis, so register earlywith Suzanne Lauck at the FAResearch Fund. ◆

courage facing this disease is awonder to behold.

Suzanne and the other staff mem-bers were extremely friendly, caringand helpful. The volunteers fromMichigan were a godsend. Never inour seven years together have I seenmy husband show any signs of lettinga tear drop. But it was emotional tosay thank you and goodbye to theteenagers who took care of our kidsso we could attend the seminars andgo to the extra activities offered to us.We thank the volunteers so verymuch for their time and theirpatience with our children.

The doctors and the researcherswere very informative and gave us alot to think about when we gothome. Thank God we did get thechance to go to the Family Meetingbecause, as soon as we got home, wehad to make a lot of decisions rightaway about Clay because his countswere dropping.

We look forward to seeing every-one again this year, making morefriends and hearing the results of theresearch advances achieved by thedoctors and the researchers in thispast year. ◆

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

(800) 828-4891 (USA only)FAX: (541) 687-0548e-mail: [email protected] site: www.fanconi.org

Newsletter EditorsLynn & Dave Frohnmayer Joyce Owen, PhD

Layout and DesignTanya Harvey, Wild Iris Design

StaffExecutive Director:Mary Ellen Eiler

Family Support Coordinator:Suzanne Lauck

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 Fourteenth Annual

International FA Scientific Symposium

DECEMBER 2-5, 2002Wyndham Franklin Plaza Hotel

Philadelphia, Pennsylvania

Family Meeting 2002continued from 1

Attending the FA Family Meetingcontinued from 10

fa newsletter 3/02the second patient with an unrelated donor rejected the first graft. a second...

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