FA Family Newsletter Fall 04 - Fanconi Anemia Research Fund

FA FAMILYNEWSLETTER#36 A Semi-annual Publication of the Fanconi Anemia Research Fund, Inc. Fall 2004Fanconi Anemia Gene Therapy Trial OpensMedical scientists at CincinnatiChildren’s Hospital Medical Centerare now enrolling patients in theFA-A complementation group for agene therapy trial. In reports toCamp Sunshine participants and toyour editors, Franklin O. Smith,M.D., described the progress of thistrial and the anticipation of subsequentclinical trials for patients in theFA-C and FA-G complementationgroups. The Cincinnati studies areled by Patrick Kelly, MD, andinvolve a team of collaborating scientistsand clinicians in the UnitedStates and Germany with specificexpertise in Fanconi anemia and genetherapy.FA families launch their “wish boats” at Camp Sunshine.Smith noted great advances inunderstanding gene therapy followingboth successes and setbacks inFrance with efforts to cure patientswith severe combined immunedeficiency (SCID). As is true of FA,SCID is caused by a single-genedefect and lends itself to correctionby using a newly constructed virus tointroduce a correct copy of the geneinto the patient’s defective cells. Tenof twelve patients were cured ofSCID following gene therapy. Whiletwo other patients in the Frenchstudy developed a leukemia-likeillness, both these children surviveafter further treatment. Smith reportscontinued on page 4Annual FA FamilyMeetingCamp Sunshine seemed morewelcoming than ever this year. Theweather included rain, but no onecared because of the warmth of thestaff, the volunteers, the delight inreconnecting with FA families lastseen a year ago, and meeting FAfamilies new to the Family Meeting.Forty-three FA families with 63 childrenattended this year, from theUnited States, Canada, Germany,Argentina, and Israel. Four adult FApatients also attended. The attendeesincluded newly-diagnosed families,those who had lost a child to FA,those who have had a successfulcontinued on page 12HIGHLIGHTSFanconi Anemia CytogeneticsWorkshop.......................................2Recurring ClonalChromosomal Abnormalities.....3Clone with Chromosome 3Abnormality Predicts PoorOutcome.........................................3Research Funded in 2004............4Family News ...................................6Fundraising....................................14

MEDICAL NEWSFanconi Anemia Cytogenetics WorkshopOn June 11 and 12, 2004, theFund sponsored a workshop on thelaboratory diagnosis of Fanconianemia and on bone marrow studiesof FA patients.Christopher Mathew, PhD, Guy’sHospital, London, chaired the sessionon Laboratory Diagnosis. SusanOlson, MD, Oregon Health &Science University, Arleen Auerbach,PhD, The Rockefeller University,Akiko Shimamura, MD, PhD,Dana-Farber Cancer Institute, andHans Joenje, PhD, Free University,Amsterdam presented their individualdiagnostic protocols, includingDEB, MMC, and FANCD2-L. Theyalso addressed mosaicism, includingdistinguishing lymphocyte mosaicismfrom true stem cell hematopoieticmosaicism.The participants discussed thedetermination of FA complementationgroups and mutations, withspecific presentations by DavidWilliams, MD, Cincinnati Children’sHospital Medical Center, Hans Joenje,PhD, and Gerard Pals, PhD, FreeUniversity, and Helmut Hanenberg,MD, Heinrich Heine University.Grover Bagby, Jr., MD, OregonHealth & Science University, chairedthe session on Bone Marrow Studies.The highlights of this session werethe presentations by HeidemarieNeitzel, PhD, Charité Hospital,Berlin, and Betsy Hirsch, PhD, Universityof Minnesota School of Medicine,on the frequency and meaningof clonal chromosomal abnormalitiesin FA patients.This meeting was attended by 27diagnosticians, researchers, andphysicians from the United States,Italy, Germany, The Netherlands,England, France, Spain, Brazil, andSouth Africa. The sharing of informationby these participants and theDavid Williams, MD, Cincinnati Children’sHospital Medical Center, leads a discussion ondetermination of complementation groups.ongoing collaborations set up at themeeting will be invaluable in improvingdiagnostic and bone marrowstudies for FA patients. ◆Educational Considerations for FA PatientsAt the annual FA Family Meeting, Mary Dasovich, PhD, an educatorfrom Saint Louis University, presented information on the learning issues thatmay face some FA patients. Dasovich emphasized that it is important to notethat learning can be impacted by many factors, not just a learning disability.For example, fatigue because of the disease can cause a significant educationalperformance deficit. She noted that, because FA is a rare condition, it can bedifficult to ensure a coordinated approach to the child’s learning disability inparticular school districts. Dasovich noted the importance of identifying patternsof strengths and weaknesses and building upon strengths to compensate.Dasovich reported that her program has funds to provide educationalconsultation and support on behalf of an FA child anywhere in the UnitedStates. The consultation includes the provision of training and support toteachers and the development of professional links between the school, familyand agencies dealing with learning disability or other learning issues affectingthe school performance of a student with FA. For further information, contactDr. Dasovich through Suzanne Lauck, Family Support Coordinator, atthe FA Research Fund. ◆Dr. Dasovich discusses educational options forFA patients.2 FA Family Newsletter

Recurring Clonal Chromosomal AbnormalitiesBetsy Hirsch, PhD, University ofMinnesota School of Medicine, presenteddata on the frequency, types,and clinical associations of clonalchromosome abnormalities in FApatients. The data were based on 99FA patients, of whom 80% wereevaluated during assessment for bonemarrow transplant. Fifty-six percentof the patients had normal chromosomefindings; 44% had one or moreclonal abnormalities. The probabilityof having a chromosome abnormalityincreased with patients’ age: themean age of those with normal chromosomefindings was 9.2 years comparedto 14.4 years for those withabnormalities. Seventy percent ofthose patients 20 years or older hadan abnormal clone.Chromosome abnormalities wereidentified by standard techniquesutilizing G-banding. Fluorescence insitu hybridization (FISH) was oftenused to supplement the G-bandedstudy to confirm the exact characterizationof the abnormality. The vastmajority of abnormalities found werestructural chromosomal abnormalitiesresulting in either a net gain or anet loss of chromosome material.The most frequently seen abnormalitieswere a gain (i.e., an extracopy) of material from the long armof chromosome 3, loss of most of thelong arm of chromosome 7 or loss ofone entire copy of chromosome 7,and gain of material from the longarm of chromosome 1. Of the 44%of patients with clonal abnormalities,77% involved these chromosome 1,3, and/or 7 abnormalities.There was a significant correlationbetween the hematopathology findings(evaluated by a hematopathologist)and the presence of clonalabnormalities. Two-thirds of patientswith abnormal clones were diagnosedBetsy Hirsch, PhDwith myelodysplastic syndome(MDS) or acute myeloid leukemia(AML) based on the abnormalappearance (morphology) of thebone marrow cells. One-third ofpatients with abnormalities had noapparent MDS or AML. Follow-upcontinued on page 18Clone with Chromosome 3 AbnormalityPredicts Poor OutcomeThe Fall 2002 issue of the FA Family Newsletter reported on findingsfrom Germany that a subtle chromosomal abnormality on chromosome 3was associated with a high incidence of myelodysplastic syndrome (MDS)and acute myelogenous leukemia (AML) in FA patients. At our April 2004Cytogenetics Workshop, Heidemarie Neitzel, PhD, Institute for HumanGenetics, Charité, Berlin, updated participants on the earlier findings.In the original study, 18 patients had the same subtle abnormality onchromosome 3 (gains of the chromosomal segment 3q26q29); 35 did not.As of June 2004, only 5 patients with this abnormality were alive; 33 of 35without this clone were living. Neitzel repeated her earlier concerns:• This particular clone represents an ominous finding in FA patients.• It does not disappear from the marrow, but becomes more dominant.Heidemarie Neitzel, PhD• It is often associated with other ominous clones, especially monosomy 7(8 of the 18 patients also had monosomy 7).• Patients with this clone should strongly consider a bone marrow transplant.Routine cytogenetics analysis is usually insufficient to diagnose this abnormal clone. Neitzel stated that FISH(fluorescence in situ hybridization) is often necessary for accurate diagnosis. Using FISH with peripheral blood canalso detect this clone, but the procedure is too new to use blood alone; one must also examine the bone marrow. ◆Fall 2004 3

Frank Smith, MDFA Gene Therapy Trial Openscontinued from 1that scientists now better understandthe use of viruses to target the correctcells. The goals of FA gene therapyare to transfer normal copies ofthe FA-A gene into patients’ bloodstem cells, with the hope that correctedcells replicate more rapidlythan defective FA cells in the bonemarrow.In the case of FA patients, stemcells are first harvested from bonemarrow or peripheral blood. A viralvector carries a normal FA gene intothe FA stem cells. Corrected cells areYour FA Research Dollars at Work in 2004Through the end of September, 2004, the Fanconi Anemia Research Fundawarded $567,952 in research grants to the following projects:Investigator: Jakub Tolar, PhD, and Bruce Blazar, MD, University of MinnesotaSchool of MedicineTitle: In Vivo Human Hematopoietic Stem Cell Transgenesis by TranspositionAmount: $98,622Investigator: Maureen Hoatlin, PhD, Oregon Health & Science UniversityTitle: Functional Analysis of FA PathwayAmount: $152,000Investigator: Anna Petryk, MD, University of Minnesota School of MedicineTitle: Glucose and Insulin Abnormalities in FAAmount: $12,371Investigator: Patrick Kelly, MD, Cincinnati Children’s Hospital Medical CenterTitle: Hematopoietic Cells from Patients with FA for Future AutologousReinfusion and ResearchAmount: $50,000Investigator: Madeleine Carreau, PhD, Laval University, QuebecTitle: Characterization of FANCC Proteolytic FragmentsAmount: $43,500Investigator: John Postlethwait, PhD, University of OregonTitle: A Zebrafish Model for FAAmount: $88,242Investigator: Johnson Liu, MD, Mount Sinai School of MedicineTitle: Supplemental FundingAmount: $36,817Investigator: Uma Lakshmipathy, PhD, and Catherine Verfaillie, MD, Universityof Minnesota School of MedicineTitle: FANCC Gene Correction Mediated by PhiC31 IntegraseAmount: $86,400then returned to the patient. Importantnote: Smith emphasized theneed to collect and freeze stem cellsfrom FA patients before marrow failure.Otherwise, there may be too fewstem cells to allow gene therapy towork with enough efficiency. Cincinnatiand other centers are now urgingpatients and their physicians to considerthe advisability of an early stemcell harvest to preserve the option ofa later gene therapy procedure.The Cincinnati gene therapystudy has three stated objectives:first, to explore the feasibility of collectingstem cells and securing genetransfer into them; second, to establishthe safety of stem cell collection,re-infusion of corrected cells, and theuse of competent retroviruses whichtarget appropriate cells; and third, todetect corrected peripheral bloodand bone marrow cells in the patientover a substantial period of time.FA-A patients have been invitedto apply to participate in the trial.Patients must have normal bone marrowcytogenetics (within a recenttesting period); must weigh greaterthan 10 kg; must be between agesone and 35; and must have an adequateunrelated donor identified (inthe event of a need for a BMT “rescue”).Sufficient CD34 + cells (a typeof stem cell) must be collected for thetrial to proceed.Prospective patients are excludedif they have a matched sibling donor;if they are currently on anotherexperimental therapeutic agent; ifthey have a malignancy, clonal cytogeneticsor MDS; if they have noidentified unrelated donor; or if theyare pregnant or lactating.For additional information,contact Robin Mueller, RN, atrobin.mueller@cchmc.org or at513-636-3218. The entire FA communitywill be watching for theseinvestigative results with enormoushope and interest. ◆4 FA Family Newsletter

Ear and Hearing Problems in Fanconi AnemiaJeffrey Kim, MD, NationalInstitutes on Deafness and OtherCommunication Disorders, NIH,presented information at the FAFamily Meeting on the ear and hearingproblems that may affect patientswith Fanconi anemia. Kim notedthat, while the life-threatening problemsthat affect FA patients requiremuch attention, a complete hearingassessment often is overlooked. Suchan assessment is necessary to ensurethat the FA patient has adequatehearing.Kim cited a study of 69 FApatients, of whom 12% had a narrowexternal auditory canal; 6% had asmall or abnormal outer ear; 3% hadlow-set ears; and 1% had abnormalbones in the middle ear space whichtransmit sounds from the air to thefluid-filled labyrinth part of the ear.Although there have been few studiesof hearing problems in FA patients,Kim estimated the incidence of hearingloss caused by narrow ear canalsor other ear abnormalities in FApatients is higher than reported andnoted that these problems can oftenbe treated with hearing aids, and/orsurgery. ◆Jeffrey Kim, MD, presents information onhearing problems in FA patients.Physician Responds to Medication ConcernsBlanche Alter, MD, MPH, responded to questions about medications posed by FA parents on our FA listserv:Use of Folic AcidMany physicians suggest 1 mg.per day, because folic acid is a vitaminthat is needed for productionof blood cells. It comes from manyfoods, but is not stored in the body,so that if someone is not eating well,there may be a folic acid deficiency.To my knowledge, there are no sideeffects at this dose. I have seen aslight improvement in blood countsin some patients. There is NOSTUDY of it, so I cannot prove thatit is beneficial. However, since folicacid is harmless and might help, Itend to recommend it. Each of youmust discuss this with your ownphysician, and let him or her guideyou. Folic acid is inexpensive andcan be purchased over the counter(OTC). You may ask for a prescriptionfor it, but some drug plans willnot reimburse you for OTC medications.Fever and Pain MedicationsMost physicians recommendacetaminophen (Tylenol) almostexclusively. Drugs such as aspirin andother non-steroidal anti-inflammatories(including ibuprofen), as well assome antihistamines, may causebleeding. Stomach bleeding can befrom irritation of the stomach lining.Bruising, nosebleeds, and otherbleeding, including stomach bleeding,may occur because these drugsinterfere with the function ofplatelets in making blood clot. Sincemany FA patients have low plateletcounts, it is best to make sure thatthe platelets that are present are ableto function fully.Some FA patients have normalplatelet counts. In these patients itmay be possible to use drugs whichwe do not use in patients with lowplatelet counts. However, even peoplewho do not have FA and havenormal platelet counts may bleedwhen given some of the drugs that Imentioned previously. If this occurs,that drug should not be used. Page34 of the 2003 Standards for ClinicalCare discussed some of these points.Our thanks to Dr. Alter for herhelpful advice! ◆Use of LogoA reminder to our FA families:please use our logo or letterheadonly after you have consulted thestaff of the FA Research Fund andreceived their approval. This isnecessary to be sure our messagesare accurate and consistent andhelps to avoid legal complications.We are happy to collaborate onfundraisers and mailings.Fall 2004 5

FAMILY NEWSThe Sun Will Come Out Tomorrowby Kristin YoungI have to admit that I was a littleapprehensive, a little scared. My sonhad been diagnosed with Fanconianemia a few months earlier, and wewere on our way to Camp Sunshinefor the Family Meeting. It’s hard toexplain why I was afraid. I guess itwas knowing that reality was aboutto rear its ugly head. The reality thatmy baby was among the other childrenwho had been diagnosed withthis awful disease. Knowing that Iwas about to hear stories of triumphand loss from people I knew werenow part of my family, even thoughwe had never met. Realizing that thebeginning of a heavy heart burdenedwith worry for them was about tobecome a routine part of my life. Itscared me.Yet, it was so wonderful to meetpeople who understand like no oneelse ever could. And although I crieda lot, it was wonderful. It was amazingto see how happy and beautifulall the children were. It was inspiringto see how positive and strong theparents were. I met people who willforever be a part of my life, and Igained a family that I would do anythingfor. I know they feel the same.A special part of the Family Meetingwas to be able to learn about allthe recent discoveries and statisticsfrom experts in the field, yet to combinethis activity with talent showsand masquerade parties. My childrenhad the time of their lives, and Iknow I heard the same from manyother families. It was a wonderfulexperience.So yes, I still cry for all the childrenwho have to endure things noone should have to go through inWesley Younglife, but I’m also so thankful for thechance to have those four days atCamp Sunshine. The chance to meetother families is so important inhelping the heart to heal. I knowwe’ll never have to fight this alone. ◆Attending the Annual Family Meeting is “a Must” for All FA Familiesby Mary Ann FiaschettiWe just attended our very firstFamily Meeting at Camp Sunshine.Although our five-year-old son, Peter,was diagnosed with Fanconi anemiain February 2000, we couldn’t attendprevious meetings due to busy schedules.We felt no urgency to attend.Our child is relatively healthy, he hasa matched sibling donor, and duringthe past four years he did not have asocial or emotional need to interactwith other FA children due to hisyoung age. We read all the newsletters,reviewed the scientific literatureand kept abreast of anything that willhelp us when it is time for a bonemarrow transplant. To be completelyhonest, attending the previous FamilyMeetings was not a priority for us.How stupid and naïve we were!This year was different. Peterstarted noticing this spring that he isdifferent. He has only four fingers oneach hand and everyone he knowshas five fingers (except the charactersat Disney World!). Peter decided he’dhave five fingers too and refused tocount the number four. Hispreschool teacher was bewilderedwhen, all of a sudden, he begancounting “1-2-3-5.” And, he nowasks why, if he is not sick, does hehave to have CBCs every three to sixmonths and an annual bone marrowaspirate? No one else in the familydoes this. Whenever Peter has a doctor’sappointment, he puts his handson his hips and shouts “I AM NOTSICK!” So, when the invitationarrived to attend the Family Meetingthis year, and we learned that schoolschedules would not conflict, wedecided to attend. We packed upourselves, the two boys, and theirpaternal grandparents and off weheaded to Camp Sunshine in Maine.What a jam-packed four days itwas for all of us! We marveled at howcohesively the agenda for presentations,counseling sessions, andcontinued on page 106 FA Family Newsletter

Karly’s Storyby Nancy RossOur daughter Karly was first diagnosedwith idiopathic thrombocytopeniapurpura at her pre-kindergartenphysical when her plateletscame back a low 86k. We spent thenext 2 years watching her plateletsand then her white and red countsdecline. Finally in October 2002 shehad a series of tests that revealed theshocking result: Fanconi anemia. Allof the little symptoms Karly displayedover the years now made senseand fit into the package called FA.Things moved quickly from there.At age 7, Karly’s counts were all low,so my husband and I decided a bonemarrow transplant was our bestoption. We were referred to theKaiser’s bone marrow transplant specialist,Peter Falk, MD, in Los Angeles.Although nobody in our familywas a match for Karly, among her500 registry matches we found theperfect match in a 23-year-oldMarine. On March 26, 2003, Karlywas transplanted. She did very welland now has excellent blood counts.Editors’ Note andDisclaimerStatements and opinionsexpressed in this newsletter arethose of the authors and notnecessarily those of the editorsor the Fanconi Anemia ResearchFund. Information provided inthis newsletter about medications,treatments or productsshould not be construed asmedical instruction or scientificendorsement. Always consult yourphysician before taking any actionbased on this information.We got our first chanceto attend the Fanconi AnemiaFamily Meeting in thesummer of 2004. We flewfrom our home near SanDiego, California to theother side of the continentin Maine. This was thefirst time Karly got to meetkids “like her.” It was awonderful (if draining attimes) experience. We werea bit nervous at being firsttime attendees, but thefamilies were welcomingand supportive. I learnedso much and feel moreempowered to be Karly’sadvocate. From Karly’s perspective,Camp Sunshinewas a blast!! She enjoyed allthe activities and madenew friends. We are lookingforward to going backnext year, this time withKarly’s dad Les and brotherKyle.Being 18 months posttransplant,life has gottenback to “normal.” Karly is off allmedication and remains strong andhealthy. Although we know nothingis guaranteed, we feel we’ve beengiven the gift of time with her. WeKarly enjoying herself thoroughly with Sullyat the Family Meeting.appreciate life so much more now.We spend more quality and quantitytime together. We thank God everyday for the gift of our precious littlegirl. ◆“Each day comes bearing its own gifts.Untie the ribbon.”~ Ruth Ann SchabackerFall 2004 7

Johnathan Eckstadtby Ann EckstadtWe found out that Johnathan hadFanconi anemia when he was threeyears old in 1993. It was the worstnews any mother could ever hear andvery hard to accept. Johnathan’scounts remained stable until the year2000 when his hemoglobin droppeddown to 5.2, and he had to have hisfirst red blood cell transfusion. Wehad to choose at that time between abone marrow transplant or startingJohnathan on the steroid Anadrol tostimulate his red blood cells. Wechose to put Johnathan on thesteroid rather than undergo a bonemarrow transplant, to buy somemore time. We knew that theFairview Hospital in Minnesota wasmaking rapid progress in unrelateddonor transplants and felt it wouldbe better to wait for that reason.Johnathan responded well toAnadrol for about three years. Theside effects of Anadrol include adenomasor tumors of the liver. In Augustof 2003 an ultrasound and CT scanshowed that he had a mass in hisliver, and he had to have surgery toJohnathan EckstadtFA families and patients listen to medical presentations at Regional Meeting.FA Regional Meeting Held in Los Angeles AreaThirty-two FA patients and their families from the West Coast met onSaturday, May 22, 2004, in Monrovia, CA, for an FA Regional Meeting.Blanche Alter, MD, MPH, National Cancer Institute, provided informationon the basics of Fanconi anemia and on the risks of FA patients acquiringsolid tumors. David Kutler, MD, New York University, provided specificinformation on the squamous cell cancers of the head and neck that affect FApatients, and Susan Rose, MD, Cincinnati Children’s Medical Center, spokeon diabetes and hormonal problems in FA. Josef Rosenthal, MD, City ofHope, discussed bone marrow transplants for Fanconi anemia patients andprovided a tour of the City of Hope Comprehensive Cancer Center. Asalways, a highlight of the meeting was that FA families had the opportunityto meet each other and share their experiences in dealing with FA. Ourthanks to the physicians who gave their time and expertise to the FA familiesat this meeting. ◆have it removed. The surgeons foundanother small tumor of the samenature while in surgery and removedthat one as well. Johnathan camethrough his surgery with flying colorsand was back on the basketball courtin no time, although he had to stoptaking Anadrol for fear he would getmore tumors. His blood countsbegan dropping, especially his redblood cells. Eventually, he had tohave monthly red blood cell transfusions.Johnathan’s bone marrow transplantin Minnesota was on July 7,2004. I asked Johnathan if he wasnervous, because God knows that Iwas! He told me that he was not thatnervous and was glad there was aprocedure out there that could takehis disease away. When the small bagof the new bone marrow was broughtinto the room, it was a very emotionalmoment. I thought that the donorhad a very big heart to want todonate bone marrow so that my soncould live. I remember it describedon someone’s Caringbridge site as abag of gold. The procedure took only30 minutes and, then, a new journeyhad begun. Johnathan hit somerough patches along the way, but healways came through them with acontinued on page 118 FA Family Newsletter

Our Experience with PGDby KatieWe’ve done eight PGD-IVFcycles, and we’re still gung ho andtrying. Chloe’s counts are OK—notgreat but not terrible—and we’re justpraying we’ll have the time andmoney to keep trying until we’re successful.As many of you know, PGD-IVF stands for pre-implantationgenetic diagnosis in conjunction within vitro fertilization. Chloe was diagnosedwith FA at thirteen monthsand, when we learned of her condition,we were already trying to haveanother child. We were so grateful tohear there was a way to have anotherchild who we could be assuredwouldn’t inherit this awful disease.And we were floored to hear thatthrough that process we could helpChloe. Although the process is difficultmentally, inconvenient logistically,uncomfortable physically, andexpensive, the potential rewards—ahealthy baby and help for Chloe—are priceless.We didn’t know much about theprocess our first time through, whichmade it a little harder. Now thatwe’re fully familiar, it has becomeroutine and much easier. The protocolsdiffer from doctor-to-doctor andpatient-to-patient, but I’ll share ourexperience in case it’s helpful. AnIVF cycle takes about six weeks. Wedid injections of hormones every dayduring this time. Some of the injectionsare subcutaneous, and I coulddo them myself in my stomach.Some of them are intramuscular andKevin did these for me in my hip.The intramuscular shots are uncomfortable,particularly the progesteroneones, but not really painful.We typically begin a cycle withtwo weeks on a drug called Lupron,which simulates menopause andturns your body “off” so that yourIVF specialist can manage yourreproductive system. Then we begintwo weeks of drugs to stimulatethe development of eggs.During these two weeks, I visitour IVF center almost everymorning for blood work tocheck my hormone levels andan ultrasound to check myegg/follicle production. Everynight, based on the results ofthe blood tests and ultrasound,I am told how much of eachstimulating drug to inject(there are usually three shotsChloenightly). It is time-consumingfor Kevin to mix the medicationsand prepare the injections. He embryo is still growing in culture atsays he feels like he’s back in chemistryclass. I don’t know if it is a side won the lottery. We jump in the car,the IVF center, we feel like we’veeffect of the medications or the stress race to the hospital, and implant theof wanting so badly for this to work, embryo in a painless procedure donebut I am pretty irritable during this fully awake. Then we hold our breathtime. We just try to maintain a sense for another 10 days until we have aof humor. After these two weeks of pregnancy test. During these twostimulation, my doctor retrieves weeks of hoping and waiting we’remature eggs. This is an outpatient doing progesterone injections nightlyprocedure done under a mild sleep and doctor visits occasionally. Weanesthetic. This is when the hard find strength in the love and caringpart begins, mentally. Physically, I of our family and friends.take a few Tylenol, rest that day, and On our last cycle, we had our firsttake it easy for the next few days. positive pregnancy test result andIn five days we know if we have were elated, euphoric, and ecstatic.an embryo that does not have Fanconianemia and is an HLA match year now, and we’ve been prayingChloe’s been asking for a sibling for afor Chloe. The waiting is maddening,as are the bits of information we ued with progesterone injections forand trying for over two. We contin-receive, because the numbers and, three more weeks after the pregnancytherefore, the odds of success just test, until we had our first ultrasound.Unfortunately, there was nokeep going down. Immediately followingthe retrieval, we learn how heartbeat, and our hearts brokemany eggs were harvested; the day again. But you know how strong allafter the retrieval we learn how many of our FA family hearts are, and thatof those eggs were mature and fertilizedinto embryos. Three days after the pieces back together and keep onthere’s nothing we can do but gluethe retrieval, we learn how many of going.those embryos are still viable and able Zev Rosenwaks, MD, and histo be biopsied for genetic testing team at Cornell and Mark Hughes,(only one cell from the embryo is MD, Genesis Genetics Institute,sent for testing). If there’s a healthy Detroit, have been so good to us. Weembryo that is a match and, if that continued on page 18Fall 2004 9

Attending the Annual FamilyMeeting is “a Must”continued from 6evening activities flowed together.How dimwitted we were to thinkthat we had so little to gain byattending the Family Meeting! It wastruly an educational experience.The presenters were excellent.Each professional was also willing totalk with us outside the lecture toanswer specific questions about ourchild. They were gracious with theirtime and truly cared for the wellbeingof Fanconi anemia patients. Wewere surprised and grateful to gainsomething medically for our son fromthe lectures. For instance, after listeningto Dr. Jeffrey Kim, we learnedthat Peter has a slightly defective eardrum that is causing his difficulty inpronouncing certain sounds. We alsoare trying several ways to increase hiscaloric and nutritional intake as wellas boosting the fiber in his diet,thanks to some suggestions from Dr.Sarah Jane Schwarzenberg. AlthoughPeter has been seen previously byseveral ENT, audiology, and gastrointestinalprofessionals, they had nottreated other Fanconi anemia patientsand were not able so immediately toidentify and remedy situations. Weextend our deep gratitude to all thepresenters who attended this year’sFamily Meeting. Thank you.Enough cannot be said about the“Coping with FA” sessions withNancy Cincotta. Where on thisplanet can one sit in a room full ofadults who have had to or will haveto make life and death decisionsabout the health of their FA child?Only at the Family Meeting! We satin awe of the journey many havetaken, are undertaking, and are justbeginning. How inspiring it was tohave adults with Fanconi anemiapresent also! It doesn’t matter wherewe are on the journey, we can allprovide emotional support for oneanother. The difficulties we face canonly be truly understood by oneanother. Thank you for providingthis forum as well as for all thechocolate, Nancy! It was therapeutic.The planned activities for thefamilies were memorable. Wheneverthere was an emotional, heartfeltevent (e.g., balloon release and wishboat launch), there was somethingfun and uplifting following (e.g.,costume party and talent show).Although we felt battle-weary by theend of each day from the emotionalityof the day’s events, we were readyagain the next day for the thrillingroller coaster ride.As a family, we were truly humbledby the Camp Sunshine staff.The volunteers were so genuinelycaring and kind. What remarkablemen and women took such lovingcare of our children and us! The childrenhad a wonderful time on theplayground, using the paddle boatson the lake, swimming in the pool,rock climbing, and playing miniaturegolf, shuffleboard, and volleyballwith the camp counselors. Our familywill never forget the generosity ofThe Fiaschetti family having a great time at the Family Meeting.the volunteers. And, the facility itselfwas perfect.Every participant contributed tothe success of the meeting. However,the most cherished moments we havefrom our four-day excursion wouldhave to be of the FA children andadults. Each and every one of them isbeautiful. They humanize this dreadful,awful disease. And, they empowerand inspire us to achieve theunimaginable. The Fiaschettis areproud to be members of the FanconiAnemia Family.We were and always will be gratefuland thankful to those who contributeto the success of FARF. It isbecause of your dedication, devotion,and generosity that our loved onesare able to enjoy the successes todaythat were impossible yesterday. Wehave now learned as a family howsignificant an impact the FamilyMeeting can be to an FA family.Thank you for making it a wonderfulexperience for which we will be foreverindebted. Our advice to any FAfamily that has not attended a FamilyMeeting: mark your calendar for nextAugust and make it a priority! ◆10 FA Family Newsletter

The Long Journeyby Esmat and Rehman SaleemAmeera Saleem was born in 1985with an extra finger. At the age of 7she was diagnosed with Fanconianemia. We were not aware of thisdisease and were very thankful to theFanconi organization and the FamilySupport Coordinator; they helped usin every step. Ameera was a brave girland was a big fighter against thisdisease. She was very active and lively,always smiling, and she nevershowed that she was suffering from achronic disease. We went to Singaporein 2000 for her bone marrowtransplant, with her older brother as aperfect match, but it was very sadnews for us when we learned that hetoo had Fanconi anemia. His diseaseis stable.We came to Canada in 2003, andAmeera had a bone marrow transplanton March 26, 2004, with myhusband, a 4/6 match, as the donor.The transplant was done at TheHospital for Sick Children in Toronto.Her first transplant did notengraft, and at day 28 the cells wereinfused again, but again, she didn’tengraft. On June 8, 2004, she contractedpneumonia and her left lungcollapsed. On June 21, 2004 shepassed away and went to the peacefulworld.We always pray that medicalscience will find a solution for thisdisease and that no other familyshould suffer such a big loss. We prayfor Fanconi patients everywhere, thatGod will bless them, and that theyget well soon. ◆Johnathan Eckstadtcontinued from 8Ameera Saleemfighting spirit. He is determined tobeat this and get better so that he cando all the normal things he likes todo again, like playing basketball withall his friends and riding his bike to afriend’s house.Johnathan had a lot of faith anddetermination before and during thetransplant. That was, and still is, abig factor for him making it this far.As a mother, it has been hard to seehim have to go through all that painand suffering. I cried a lot of tearsand prayed a lot of prayers to get methrough it. All I can say to the parentswho will have to go through aBMT with your child is stay positiveand take one day at a time. My faithin God really helped me througheverything as well. I prepared myselfeither way, and I am thankful thatJohnathan has made it this far. He isstill not out of the woods, and wehave hit a few bumps along the way.He is doing well at this point. Eachday that I have with Johnathan is ablessing from God. ◆In LovingMemoryKendall Atkinson5/4/83 – 3/14/04Emile Kriegler2/2/92 – 9/12/04Matthew Lindenmayer7/3/90 – 4/22/04Randall McNutt7/3/84 – 3/3/04Benjamin Platte4/29/93 – 2/22/04Janelle Redekop4/25/90 – 6/9/04Glen Russo11/15/53 – 9/13/04Ameera Saleem9/19/85 – 6/21/04Reid Trager1/18/88 – 2/27/04Fall 2004 11

Annual FA Family Meetingcontinued from page 1transplant, and those facing transplant.Some families had attendedthe Family Meeting since its inceptionand others were attending—with trepidation that quickly turnedinto gratitude—for the first time.As always, FA families were awedby the presentation of experts in allaspects of FA who also gave freely oftheir time on this special long weekend.The Fund was honored thatBlanche Alter, MD, MPH, NationalCancer Institute; Akiko Shimamura,MD, PhD, Dana-Farber CancerInstitute; Wolfram Ebell, MD,Charité Hospital, Berlin; MarkHughes, MD, The Genesis GeneticsInstitute, Detroit; Franklin Smith,MD, and Richard Harris, MD,Cincinnati Children’s HospitalMedical Center; and Sarah JaneSchwarzenberg, MD, University ofMinnesota, attended again this year.New presenters included Mary Dasovich,PhD, St. Louis University, whodiscussed educational considerationsfor FA patients; Jeffrey Kim, MD,NIH, who made a presentation onear and hearing problems; ThomasHart, DDS, PhD, NIH, who describedan FA Facial Imaging projectfor possible participation by FAfamilies, and Carter van Waes, MD,NIH, who discussed head and neckcancer.Families sometimes felt overwhelmedwith the wealth of data,The Nash family enjoying Camp Sunshine.much of it complicated. Yet all weregrateful for knowledge that will helpthem deal with FA. As always, familiesdeeply appreciated the listeningear provided by Nancy Cincotta,MSW, who facilitated many “copingwith FA” sessions for parents andchildren.The children had a tremendoustime. Camp Sunshine volunteerskept them occupied with one activityafter another, and the kids delightedin getting to know others like themselves,whether they were FA patientsor the siblings of FA patients. Parentsand children alike dressed up for theMasquerade Ball, all trooped downto the pond in the rain to sail their“wish boats”—with the fervent hopethat their wishes would come true—and the (quite talented!) childrenperformed at the talent show.The Family Meeting ended all toosoon, but families left buoyed by theexperience and rich with new friendships.◆Performing in the Talent Show.12 FA Family Newsletter

The Frock kids dressed for the Masquerade Ball.Showing off their Wish Boats.Enjoying theFA Family MeetingThe Lauzier family ready for the Masquerade Ball.FA teens Zach Blecher, Amanda Gleason, and Amy Frohnmayer ready for the Ball.Fall 2004 13

FUNDRAISINGHonoring the Beloved Memoryof Our Fallen Diamondby Derek PerssonWe knew early on that there weregoing to be some complications withDiamond Ashley’s birth. However,we could never imagine the fears andhorrors that we would have to livethrough in her short life. Shortlyafter Diamond was born on October16, 2001, the doctors told us thatDiamond had a disease called Fanconianemia. They explained to usthat FA is a very rare genetic disorderand that Diamond would ultimatelyhave bone marrow failure and diebefore she reached adulthood. Thisnews about my first and only childwas devastating. While we sat thereand watched her those first 30 daysin the NICU, we thought that wewould never be able to bring herFundraising Assistancehome. We were very lucky tohave a great medical supportstaff at the hospital. Theyhelped prepare us to bringDiamond home 30 days afterher birth, still weighing onlyapproximately 5 lbs.The geneticist at the hospitalreferred us to the websitefor the Fanconi AnemiaResearch Fund. Our hopes forthe future started to change.We realized that we were notthe only family out there facingthis horrible fight. We went toregional meetings and joined thee-mail group. Words cannot expressthe support and love that we receivedfrom the other families dealing withAlmost all of the donations (85%) to the FA Research Fund areraised by FA families. If you are not now involved in raising funds for FAresearch, we very much need your help. The staff of the Fund will behappy to assist you. We’ll help you write or edit your fundraising letter;photocopy it; provide the postage; and mail it from our office, usingyour mailing list. If you’re going to hold a fundraising event, we’ll providesimilar help.The FA Research Fund asks FA parents to make certain that anyevent they hold is covered by liability insurance. This insurance for aone-time event is often available through a family’s homeowners insuranceas a relatively inexpensive insurance rider. Please contact the Fundif you need assistance obtaining or paying for this required insurance.When a donation is received, we’ll send a letter of thanks from theFund with a tax receipt, and we’ll notify you that a donation has beenmade in your name. One request: Please ask your donors to write theirdonation check to the “Fanconi Anemia Research Fund.”Our sincere thanks go to all of you for your efforts to raise funds tocombat this devastating disease.Derek and Diamond Ashley Perssonour same problems and concerns.We planned a dinner/dance benefitin Diamond’s honor in the summerof 2002. This was Diamond’s“coming out” party. We had kept hersecluded from the outside worldbefore this, because of so manyunknown fears. This was the firstchance for a lot of family and friendsto meet her. Looking back, it was oneof our best events. We had a DJ playsome music and speakers talk aboutthe need for bone marrow donors.We also had a raffle and silent auction.We raised over $7,000 thatnight.Those funds paid medical billsand helped pay for trips to Cincinnatito see Dr. Harris, to Minnesotato see Dr. Wagner, to New York tosee Dr. Auerbach, and then to the FAFamily meeting in Maine. Theknowledge and friendships that wegained through these trips were justamazing. We finally thought that wewere on top of the disease and had agood plan for the future.continued on page 1914 FA Family Newsletter

Why Our Family Decided To Raise Funds For FA Researchby Peg PaddenLess than a year and a half ago,our 21-year-old son, Jake, was diagnosedwith FA. Our two youngersons, Conor (18) and Spencer (15),were tested to see if they were a bonemarrow match for Spencer’s transplant.We were so happy whenSpencer was found to be a match,only to find out he also had FA.Last July, Jake had a transplant,using a partially matched unrelateddonor.Tragically, Jake did not make it,and he passed away last October. Ifigured I had a choice. I could lie inbed and cry all day (which wouldhave been very easy to do) or I couldforce myself to take some action anddo something to help Spencer andothers with this difficult disease. Ie-mailed our doctor (John Wagner)in Minneapolis and asked him if hethought the majority of my timewould be better spent working withthe Red Cross to get more people onthe bone marrow registry, since westill don’t have a complete match forSpencer, or to raise funds for FAresearch. Dr. Wagner said that,although both are obviously important,the most important thing wecan do right now is to make transplantssafer by funding research.So I thought, O.K., we’ll have anauction. I knew absolutely nothingabout putting on an auction, butfigured anything we made would bebetter than nothing. If we made$1,000, that would be $1,000 thatthe Fanconi Anemia Research Fundotherwise would not have. We putthe auction on in three months andwere absolutely stunned when wemade $106,000.The money we made was tremendous,but something else happenedthat we had not expected. Having theauction started a chain reaction withour family and friends. My cousin’sson (whom we see maybe once everytwo years) convinced the companyhe works for to have their golf tournamentraise money for a charity thisyear. And, of course, that charity wasthe Fanconi Anemia Research Fund.They made approximately $2,500.My husband’s old friend from lawschool (whom we see once or twice ayear) had a golf tournament, BBQ,and raffle a couple weeks ago andraised $6,000. Jake’s good childhoodfriend who, at the age of 21 directeda play in New York this summer, isplanning on directing another playand having all the money go for FAresearch. Our niece came up with theidea to get as many people as possibleto run or walk the Las Vegas Marathonin honor of Jake and, at the sametime, get sponsors for Fanconiresearch. Just yesterday, our 14-yearoldniece called to tell us that theclub she belongs to had $106 leftover in its treasury, and they decidedto give it to the Fanconi AnemiaJake, Spencer and Conor ShearerResearch Fund. I’m thinking ofputting on a 5K run/walk specificallyfor Fanconi anemia sometime thisspring.The point is, if you can do anythingto raise money for research, doit! It doesn’t have to be big. Every bithelps. Obviously, the more peopleinvolved, the more it adds up. And,who knows? If you do something,people you know might get the ideato do something. Any amount youraise will go for research, and it isresearch that can save our childrens’lives. It does not get any bigger thanthat. Warren Buffet said it well: “It isnot necessary to do extraordinarythings to get extraordinary results.” ◆Fall 2004 15

Fundraising MythsAt the FA Family Meeting atCamp Sunshine, FA parent and cofounderof the FA Research Fund,Dave Frohnmayer, discussed themyths and rationalizations that familiessometimes use not to raise funds.Dave identified such myths as:• I can’t raise enough money to makea difference.• My friends don’t want to help.• I would be embarrassed to asksomeone for funds.• It would devastate me if my neighbors(relatives or friends) did notdonate if I asked.• It would embarrass my FA child ifI were to ask others for funds for FAresearch.• I need to focus my efforts on bonemarrow drives.• I don’t know how to raise money.• I don’t have the time.• We really need to find a Hollywoodcelebrity (or athlete) to raise fundsfor us.• The benefits from research are toofar away, so why should I waste mytime raising funds?Dave pointed out that every dimeraised makes a difference, especiallysince no one else is going to raisefunds for FA research if parents donot do it. Foundations and otherdonors are impressed with a broaddonor base, even if individual donationsare small. He noted that, justas no one is embarrassed to ask adoctor for help, there is no stigmaattached to raising funds for researchthat can benefit all those with FA.Dave observed thatfriends, in fact, do wantto help and are eager todonate. While everyonehas had the experience ofhaving friends or relativeswho do not donate,it is important not topersonalize theirresponse as a rejection.These individuals maychoose to help in a differentway or have theirown problems.Contrary to the myththat fundraising embarrassesa child, Dave andothers find that childrenare encouraged that theirparents are trying to advance FAresearch and pleased to know thatothers are pitching in to help.Dave, as a founding member ofthe National Marrow Donor Program,acknowledged the importanceof bone marrow drives. However,many in the general population areconducting those drives whereas fewin the general population are raisingfunds for FA research. If there is achoice between doing one or theother, funding FA research wouldseem to be more important to ourgroup. Dave encourages FA familiesto find the time to do both if theycan.When will we ever have “time”? Itdepends on what we choose as priorities.Dave notes that he and Lynnsimply have had to make time intheir extremely busy schedules toraise funds. They literally spend daysduring Christmas vacation writingpersonal thank you notes to theirdonors. They make this a priority, asthe best use of their limited time.Dave observed that it is easy, andcompletely ineffective, to defer one’sown responsibility for fundraising tothe elusive “Hollywood celebrity.”Dave Frohnmayer discusses fundraising mythsat Family Meeting.The Fund has benefited from donationsfrom celebrities and billionairesbut, even if a celebrity raised fundsfor us, we would still need the effortsof all FA families, given the high costof advancing FA research rapidly.The last myth, regarding thefutility of raising funds because thebenefits from research are so faraway, is not true. The FanconiAnemia Research Fund may be thesingle most effective rare diseasefundraising group in the world.Since 1989, fifteen short years, FAscience has advanced rapidly, simplybecause of the funds raised by FAparents. Had it not been for theirefforts, researchers would not befinancially able to study FA, nogenes would have been identified,and bone marrow transplant successrates would be extremely poor.Myths notwithstanding, fundraisingby FA families has made all thedifference. ◆16 FA Family Newsletter

Family Fundraising EffortsFrom January 1 through June 30, 2004, FA families raised $553,828 for Fanconi anemia research. The Fund alsoreceived donations of $4,154 through the United Way and $5,057 through the Combined Federal Campaign. Ourthanks to all of you who have worked so hard to raise critically-needed research dollars.$200,000 and upDave & Lynn Frohnmayer$100,000 and upGlen and Peggy Shearer$60,000 and upJohn and Kim Connelly$20,000 - $60,000Deane Marchbein and Stuart Cohen$10,000 - $19,999Andrew and Vicki AthensBrian Horrigan and Amy LevineFred and Nancy NunesMark and Diane Pearl$5,000 - $9,999Claire AshurstKen and Jeanne AtkinsonRandy and Nancy BloxomDonald and Danielle BurkinBeth and Jeff JanockBob and Andrea Sacks$1,000 - $4,999John and Audrey BarrowDarryl Blecher and Diana FitchAntonino and Marie DiMercurioEd and Janice DuffyAllan Goldberg and Laurie StronginCharles and Katy HullErik Kjos-Hanssen and Turid FrislidGregory and Lynette LowrimoreLorraine and Kevin McQueenVirginia NapolesJack and Lisa NashDerek and Ginger PerssonAdam and Laurie PlattePeter and Janice PlessShirley QuiliciMarcia ReardonLynn and Rick SabloskyBill and Connie SchenoneWilliam and Mary UnderrinerMarge ZaborneyUp to $999Cherie BankMark and Linda BaumillerJohn and Francene BerglundDiane BradleyRoel and Diane BrandRichard BrigaLynnette ChandlerFloyd and Susan ClarkTyler and Teresa CliftonRichard DayJoseph and Tracey DeMarcoCarol DillonPat and Mary DiMarinoNathan and Ann EckstadtPaige EllisDavid and Mary Ann FiaschettiStephen and Doreen FlynnGary and Melody GanzMaria and Josh GodwinTodd and Robin GrayAlan and Rachel GrossmanMitchell and Tirzah HaikJohn and Martina HartmannBonnie and Robert HutchinsChristie and Randy Kelley“You may have theloftiest goals, the highestideals, the noblestdreams, but rememberthis, nothing worksunless you do.”~ Nido QubeinShaid and Melvina KhanJoseph KonikowskiAyala LauferRene LeRouxBill and Jackie LucarellSteve and Allison McClayCecelia MelolingGriff and Cecilia MorganAndrea MorrisJohn and Betty MozisekSheila MuhlenKenny and Lisa MyhanTony and Lina NahasBob and Alice NicholsonDianne and John PloetzMichael and Kay ProctorPedro and Marina RaveloKevin and Katie RogersBrenda SeifordMatt and Diane SenatoreLillian ShermanBryan and Karen SiebenthalJeff and Debby SlaterChris and Amanda SmithKaren SteingartenMark and Susan TragerMike and Beth VangelMark and Sandi WeinerKim and Michael WilliamsDonationsDonations may be made to theFanconi Anemia Research Fund, a501(c)(3) organization, as follows:Online: Look for the Donationslink on our home page(www.fanconi.org).Telephone: Call us at (541) 687-4658 or toll free (800) 828-4891.Mail: 1801 Willamette Street,Suite 200, Eugene, OR 97401.Fall 2004 17

Recurring Clonal ChromosomalAbnormalitiescontinued from 3Kevin McQueen, team leader, and other FA families plan fundraising efforts at Camp Sunshine.Fundraising for FA Research:Join the Winning Team!!In an effort to increase fundraising by FA families, the FA Research Fundhas developed regional fundraising teams. Kevin McQueen, Mark Pearl, andMike Vangel, who are all FA parents and members of the Fund’s Board ofDirectors, have volunteered to develop these teams to provide support tofamilies in their fundraising efforts. Kevin, Mark, and Mike are aided byfundraising team leaders Peg Padden, Lisa and Jack Nash, Kim and JohnConnelly, Rachel Grossman, Brian Horrigan, Donny Burkin, PatrickGleason, and Randy Bloxom. The team leaders will be contacting FAparents in their respective geographical areas to assist them with their fundraisingplans. ◆Our Experience with PGDcontinued from 9truly feel their support and knowthey’re rooting for us as much as ourfamily and friends. For half of ourattempts, we haven’t had a healthy,matched embryo to transfer, and weknow they share our frustration.Statistically, 3 out of every 4 embryos(75%) will not be affected with FA,and 1 out of every 4 embryos (25%)will be an HLA match. Therefore,25% of the 75% (which equals 19%)will achieve both and be an unaffectedmatch. Since not all of the eggsretrieved will be mature and willfertilize into embryos, these aretough hurdles. But we truly believe itHAS to work eventually, and weknow we’ll be successful if we’re giventhe time to try. When the three of ushold that baby in our arms, all of theeffort and disappointments will beforgotten and replaced with purejoy. ◆studies will be important to determinethe time frame between theoccurrence of a chromosome abnormalityand the development ofabnormal morphology. Only 6% ofpatients with normal cytogeneticshad MDS or AML.G-banded chromosome analysiscurrently represents the best methodfor identifying all types of chromosomeabnormalities. However, thefinding that abnormalities of chromosomes1, 3, and 7 comprise thebulk of abnormalities seen in thebone marrow of FA patients presentspossibilities for supplementing andincreasing the sensitivity of screeningstrategies. For example, if G-bandedstudies are normal, FISH can be usedto rapidly screen additional cells forthe presence of 1, 3, and 7 abnormalities.Further, peripheral blood FISHstudies might provide a means ofscreening in between annual bonemarrow examinations.At the University of Minnesota,the following clinical strategy is followed:bone marrow chromosomesare analyzed once per year by G-banding. If an abnormal clone isdetected, the finding is discussedwith the hematopathologist andtreating physician. If there is noMDS or AML present, the bonemarrow is then monitored every fourmonths. If there is evidence of MDSor AML, treatment options are discussed.In general, the treating physicianconsiders the presence orabsence of abnormal clones, theappearance of the cells of the bonemarrow, the availability of a matchedbone marrow donor, and the clinicalcondition of the patient in makingtreatment decisions. ◆18 FA Family Newsletter

Honoring the Beloved Memory ofOur Fallen Diamondcontinued from 14We decided to attempt to reconnectDiamond’s esophagus, one ofher birth defects associated with FA.We thought that we had done all theresearch and had complete confidencein Diamond’s medical team.They advised us that this was a trickyprocedure, but was not life-threatening.Unfortunately for my littleDiamond, she did not do well postsurgeryand passed away on March29, 2003, before my very eyes.At this point I thought my lifehad ended. I believed that I nolonger wanted to be a part of the FAfamily. I wanted to get as far awayfrom Fanconi anemia as I could.But as time went by and we gotcloser to the one-year anniversary ofDiamond’s passing, we started tothink how we could use Diamond’slife story to help others who are facingthe same battles. We realized wemissed our FA family and wonderedhow the families that we had met atthe regional meetings and the FAFamily meeting in Maine were doing.I began again to follow the e-mailgroup and the newsletters. I realizedthat, even though my daughter’s fightwith this horrible disease had ended,we could honor Diamond’s memoryby raising funds for the FA ResearchFund.So we planned a dinner/dancefundraiser. Our goals were verysmall, because we knew this fundraiserwould be very tough on usfollowing the one-year anniversary ofDiamond’s passing. A small group offamily and friends helped greatly. Webrought in a local band and receiveddonations from local businesses.Even with some costs we can reducenext year, we exceeded our goals andwere able to donate $1,500 to theFund. We developed a scholarshipin Diamond’s memory that wasHow You Can HelpYour donations have helped move this fatal disease from anorphaned status in 1989 to a disease with treatments that now buyprecious time for FA patients. As the genetic basis of Fanconi anemiacontinues to be deciphered, your donations are also having an impacton the lives of millions in the general population. To help us continuethe fight, consider these ways to donate:Gifts to celebrate an occasion: If you are celebrating a birth, a birthday,an anniversary, a graduation, a marriage or other gift-worthyevent, consider asking that donations be made to the Fund in honorof the reason for the event.Gifts to commemorate a loved one: Families who have lost a lovedone may ask that a donation to the FA Research Fund be made inmemory of the deceased individual.Bequests: If you are preparing or reviewing your Last Will and Testament,consider making a bequest to the Fund.Matching Gifts: Many employers will match the charitable gift of anemployee. This is an excellent way to double your donation.United Way or Combined Federal Campaign: If you work foran organization covered by either of these organizations, considermaking a donation via your workplace and asking your colleagues todo the same.Donations Online: Look for the PayPal button in the Donationssection of our web page (w)Donations by Telephone: Call us at (541) 687-4658 or toll free at(800) 828-4891.Donations by Mail: 1801 Willamette Street, Suite 200, Eugene, OR97401.The FA Research Fund has an outstanding record of fiscal responsibility.Administrative costs of the Fund have consistently been far belowaverage for similar organizations. Our recent annual audit, completed bythe accounting firm of Moss Adams, documented that the Fund’s 2003administrative costs were 3.80% and the fundraising costs were 2.10%,for a combined total of 5.90%, exemplary by any standard.presented to a graduating seniorfrom the local high school whointends to pursue a degree in themedical field.The fundraiser was a big step forus in the healing process. We usedDiamond’s life story to help educateothers on the needs for organ andbone marrow donors. It also helpedus to stay connected to anotherfamily that was very important to usduring Diamond’s life, and that wasthe FA family. We know our donationwas small, but we hope that wecan build on this year’s success. Everylittle bit helps and, if each family canjust do a little, maybe someday wewill find that cure that will save thelives of all of our wonderful children.My heart, thoughts, and prayerscontinue to be with all of you as youfight this battle. ◆Fall 2004 19

The Seventeenth AnnualInternationalFA ScientificSymposiumSEPTEMBER 29 –OCTOBER 2, 2005Intercontinental Hotel GeneveGeneva, Switzerland1801 Willamette St., #200Eugene, OR 97401phone: (541) 687-4658(800) 828-4891 (USA only)FAX: (541) 687-0548e-mail: info@fanconi.orgweb site: www.fanconi.orgNewsletter EditorsLynn & Dave FrohnmayerMary Ellen EilerJoyce Owen, PhDLayout and DesignTanya Harvey, Wild Iris DesignStaffExecutive Director:Mary Ellen EilerFamily Support Coordinator:Suzanne LauckBoard of DirectorsBarry Rubenstein, JD, PresidentDavid Frohnmayer, JD, Vice PresidentRuby Brockett, Secretary/TreasurerDeane Marchbein, MDKevin McQueenMark PearlRobert D. SacksMichael L. VangelPeter von Hippel, PhDJoyce Owen, PhD, Director EmeritusLynn Frohnmayer, Advisor to the BoardScientific 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, MDPrintingImage Masters Printers20 FA Family Newsletter