Family Newsletter #53 - Fanconi Anemia Research Fund

Symposium NewsSymposium Overviewcontinued from page 1Fund, to pronounce, “This was the single best day intranslational research in the history of the Symposia.”The annual Symposium gala dinner was again a movingcelebration illustrating for all in attendance how muchhas been accomplished and how much work remains.Ken Atkinson, MD, a parent and active fundraiser, spokeabout his family’s experience with FA. Two of Ken andhis wife, Jeanne’s, four children had FA. Their daughterKendall succumbed to complications of FA at age 20 andtheir son, Taylor, passed away at age 18. Ken and Jeannefounded the Kendall and Taylor Atkinson Foundation;daughters Allison Adams and Whitney Langlois foundedKaps for Kendall. Both organizations raise funds for FAresearch and family support.Grover Bagby, MD, Oregon Health & ScienceUniversity, Portland, Ore. and chair of the Fund’sScientific Advisory Board since its inception in 1989,received the Fund’s Lifetime Achievement Award. Afounding director of the OHSU Knight Cancer Instituteand hematologist for more than 35 years, Dr. Bagbyhas focused on FA research for the past 25 years. Hewas saluted for his passionate curiosity, dedication toinquiry and superb organizational and leadership skills.In accepting the award, Dr. Bagby told the old parableabout a group of blind men each touching one part ofan elephant to learn what it is like. In the story, the manwho feels the elephant’s side says it is like a wall, theman who feels the tail says it is like a rope, and so on.The moral of the story is, as Dr. Bagby told the gatheredresearchers and clinicians, “we need each other.”Participant evaluations attested to the meeting’s value.One participant wrote, “It is of utmost importance forFA researchers to attend this annual symposium, notonly for the scientific value but for the approach to real“The single best day in translationalresearch in the history of theSymposia.” – Dave Frohnmayerproblems of FA families.” Another noted, “This meetinghas become my top priority. While emphasizing rigorousbasic research, clinical progress, and honest scientificexchange, it reminds the community each year that FAfamilies do not have the luxury of time.” Finally, “I lovedthis meeting! You seem to have figured out how to keepit balanced and exciting.”Testing Service for FA PatientsTesting for PotentiallyBeneficial Cancer TherapyThe Knight Diagnostic Laboratories at OregonHealth & Science University have recently madeavailable new molecular tumor tissue tests designedto identify potential treatment targets in cancerand to predict the likelihood of benefit for patientstreated with the latest therapeutics.This new testing is available atNO CHARGE to FA patients.For more information, contact:Teresa Kennedy, Director of Family Support ServicesFanconi Anemia Research Fund, Inc.Phone: 541-687-4658 or1-888-FANCONI (888-326-2664)Email: teresa@fanconi.orgOr contact:Christopher Corless, MD, PhD, Medical DirectorOHSU Dept. of Pathology (mailcode L113)3181 SW Sam Jackson Park RoadPortland, OR 97239Phone: 503-494-6834Email: corlessc@ohsu.edu2 Family Newsletter #53

Presentations Highlight Aldehyde ResearchA majority ofresearchers atthe ScientificSymposiumcommented that therole of aldehydesin the Fanconianemia pathwayis an excitingarea for furtherresearch, since it may more fully explain why Fanconianemia patients develop bone marrow failure, congenitalanomalies and cancer. Aldehydes also provide a newtarget to develop small molecule therapies to improvethese problems.Aldehydes are highly reactive substances that caninjure cells, particularly if they react with DNA in away that FA cells cannot repair. A common example isformaldehyde.Some of the aldehydes that can harm cells areendogenous or formed within the body as a result ofnormal metabolism, such as the processing of alcohols,amino acids, lipids, etc. Some are from outside the bodyor exogenous, like a number of drugs and environmentalagents, including the ethanol found in alcoholicbeverages we drink.To prevent aldehydes from causing damage, they arefirst broken down by the cell, using enzymes called“aldehyde dehydrogenases.” If the aldehyde persistsand causes DNA damage, the working Fanconi anemiapathway repairs it. With a defect in an FA gene, damageto cells will accumulate.Aldehydes and Bone Marrow FailureResearchers at the laboratory of K.J. Patel, MD,PhD, MRC Laboratory of Molecular Biology,Cambridge, UK, are conducting research to explainthe relationship between aldehydes and bone marrowfailure in FA. Gerry Crossan, PhD, presented workshowing that the identity of the enzyme responsiblefor aldehyde detoxification for hematopoietic stemcells (HSCs) is the aldehyde dehydrogenase ALDH2.HSCs that lack both ALDH2 and FANCD2 genesare much more damaged than those lacking eitherALDH2 or FANCD2 alone, when exposed to analdehyde. Interestingly, this seems to be a feature of theHSC’s only, since more mature and specialized bloodprogenitor cells do not show more damage.Juan Garaycoechea, PhD student at the MRC, didexperiments with mice deficient in both ALDH2 andFANCD2. These mice had a strong predisposition toleukemia and developmental abnormalities, as previouslydemonstrated by Frederic Langevin, PhD. They alsoshow a large decrease in the number of HSCs comparedto normal mice. Furthermore, those double mutant micethat do not develop leukemia go on to develop bonemarrow failure, caused by an accumulation of DNAdamage in the blood stem cells. Researchers concludethat endogenously generated aldehydes are a potentsource of DNA damage that is repaired by the FanconiDNA repair pathway.Asuka Hira, MD, Kyoto University, Japan presentedher lab’s analysis of Japanese FA patients who areALDH2 deficient. Approximately 50% of the Japanesepopulation are normally ALDH2 deficient. Hira’swork supports the hypothesis that aldehydes are toxicAldehydes are highly reactivesubstances that can injure cells,particularly if they react with DNA ina way that FA cells cannot repair.to HSCs, and the FA pathway is counteracting thisdamage. The researchers determined that 23 of 55FA patients had one ALDH2 mutated gene allele, 2had both ALDH2 mutated gene alleles, and 30 werenormal for both alleles. The two homozygous caseswere both gravely ill. In all 25 cases where the patientswere deficient in at least one of the ALDH2 alleles,bone marrow failure was strongly accelerated, but thedeficiency did not affect the development of MDS orleukemia. Both FA patients with an ALDH2 mutationand those with normal ALDH2 experienced the samerates of developing MDS or leukemia. Interestingly,body weight at birth and number of physical anomalieswere not significantly affected by the lack of ALDH2.continued on page 2Symposium NewsFamily Newsletter #53 3

Symposium NewsAldehyde Researchcontinued from page 7Aldehydes and Developmental DefectsNina Oberbeck, from the MRC, presented her workon mice embryos. By examining different geneticcombinations of mothers and embryos, she concludedthat the mother’s ability to break down aldehydesdetermined the existence of DNA damage in the embryoand the embryo’s subsequent developmental defects. Thework also showed that the placenta did not protect theembryo by breaking down these aldehydes and thereforedid not protect the embryo from DNA damage.These findings open areas for further exploration. Forexample, could developmental defects in FA be reducedby drugs like cysteamine that mitigate the damagingeffects of aldehydes? Could a pregnant mother’s completeabstinence from alcohol or observance of a low-fat dietreduce her endogenous production of aldehydes andtherefore reduce defects?Aldehydes and CancerLeslie Ann Cruz, PhD, from Daria Mochly-Rosen’s laboratory at Stanford University, Stanford,Cal., presented a poster, which described the workof Che-Hong Chen, PhD and her attempts to findsmall molecules that can reduce DNA damage anddevelopment of cancer associated with aldehydes.Acetaldehyde is an aldehyde produced after alcoholingestion. The researchers used an alcohol intoxicationmodel in mice treated with Alda-1 (a small moleculeactivator of ALDH2) and Alda-89 (a small moleculeactivator of ALDH3, which is another aldehydedehydrogenase). They found that acetaldehydebreakdown with Alda-89/Alda-1 treatment wassignificantly better compared to Alda-1 treatment alone.Since ALDH3 is normally expressed in the mouth andesophagus, where many of the solid tumors associatedwith exposure to aldehydes occur, their next studieswill be to determine whether recruiting ALDH3 tometabolize toxic aldehydes reduces upper aero-digestivecancer risk in rats and mice.TALENS: A New Gene Editing TechniqueMark Osborn, PhD,University of Minnesota,Minneapolis, states thatachieving the goal ofdeveloping the optimal genetherapy approach for FA is “thehighest priority in my lab.”Gene therapy holds greatpromise for treating numerousdiseases. This therapy oftenrelies on a viral deliverysystem to transport genetic material into cells. A criticallimitation of this strategy is that the virus transportingthe therapeutic gene can integrate into a location in thepatient’s genome that causes harm, such as cancer.In contrast, gene editing specifically targets atypographical error in the DNA code for replacementwith the normal sequence. Molecular “scalpels” can bedesigned that preferentially excise the damaged DNA.The “wound” is sutured using a powerful and highlyaccurate cellular repair pathway called homologousrecombination. The end result is the permanentcorrection of the mutated DNA to normal DNA.One of the most powerful gene editing reagents,called “transcription activator like effector nucleases”or TALENS, functions as “molecular scissors.” TALENproteins exist in nature and are used by bacteria to alterthe gene expression of the plant species they colonize.The end result is the permanentcorrection of the mutated DNAto normal DNA.Research specialists at Iowa State University, Ames,Iowa and the University of Minnesota, Minneapolis,re-engineered these proteins to generate highly specifictools for gene correction in human disease. A group atthe University of Minnesota has shown the ability ofTALENS to correct the human FANCC gene. This workprovides proof of concept for TALENS in FA therapies.As the TALEN and gene therapy fields converge to definethe optimal gene therapy approach, a new therapeutictool will become available to the FA community.4 Family Newsletter #53

The Pursuit of Stem Cell ExpansionFully functional bloodstem cells can now beexpanded in culture,an approach that couldrevolutionize stem celltransplants and eventuallygene therapy.Jakub Tolar, MD, PhD,University of Minnesota,Minneapolis, noted that ageneral rule of blood andmarrow transplant is that “the higher the number ofimmunologically-matched hematopoietic stem cells(HSCs) available from the donor, the better for thepatient’s engraftment and outcome.” HSCs are requiredin relatively high numbers on the day of transplant forthe graft to take permanently. In umbilical cord bloodtransplants, however, the number of stem cells is limited.Researchers in the laboratory of Hans-Peter Kiem,MD, University of Washington, Seattle, have tested useof expanded stem cells in a nonhuman primate modeland observed very rapid neutrophil engraftment. Aftertransplant, two of three animals did not require any redblood cell or platelet transfusions.The significant delay in white cell recovery followingcord blood transplants leads to an increased risk ofinfection and is a critical barrier to successful outcome,according to Colleen Delaney, MD, Fred HutchinsonCancer Research Center, Seattle. Dr. Delaney describeda study to determine if cord blood cells, expanded in thelaboratory, could hasten the time to engraftment. Twentynon-FA patients received partially matched doublecord blood transplants. They were first infused withunmanipulated cells and, after four hours, were givencord blood stem cells expanded in the laboratory. Timeto engraftment (defined as an ANC >500) was 12 days,instead of a median of 25 days without cell expansion.Stem cell expansion couldchange the field of transplant aswe know it.Anthony Boitano, PhD, Genomics Institute of theNovartis Research Foundation, San Diego, stated thatresearchers at his center have identified a molecule(SR1) that creates a 17-fold increase in the number offunctional HSCs. Using these manipulated cells, phaseone/two clinical trials are underway for non-FA patients.Dr. Tolar concluded that these advances will “changethe field of transplant as we know it.”Symposium NewsEffectiveness of HPV Vaccines in Individuals with FANo published studies have determined if individualswith FA inoculated with a human papillomavirus (HPV)vaccine have mounted sufficient antibodies against HPV.Blanche Alter, MD, MPH, National Cancer Institute,Rockville, Md., has now determined the post-vaccine“titer” level for ten FA patients vaccinated with Gardasil.Titers measure the relative amount of protectiveantibodies mounted in response to a vaccine. Of theseten patients, nine had sufficient titers. One male, sevenyears post-transplant, had low titers.One FA patient, studied both three and five years aftervaccination, consistently exhibited titers in the normalrange. Dr. Alter concludes that for most FA patients,Gardasil provides protection against HPV similar towhat is achieved in non-FA individuals.For most FA patients, Gardasilprovides protection against HPVsimilar to what is achieved in non-FAindividuals.Family Newsletter #53 5

HPV Not Detected in FA Head and Neck Cancersin Two Small StudiesSymposium NewsBlanche Alter, MD, MPH; Susanne Wells, PhDThe role of the human papillomavirus (HPV) inpotentially causing cancers affecting FA patients is still amajor unresolved controversy. Two recent reports, basedon extremely small numbers of FA patients, suggested thatHPV might play a role in gynecological cancers, but thesestudies did not detect HPV in the head and neck squamouscell carcinomas (HNSCCs) from these FA patients.Blanche Alter, MD, MPH, National Cancer Institute,Rockville, Md., studied nine tumors from individualswith FA. Three were cancers of the oral cavity, two wereoropharyngeal cancers, and four were vulvar/vaginalcancers. The only cancer positive for HPV was one of thefour gynecological cancers.Laboratory findings of Susanne Wells, PhD, CincinnatiChildren’s Hospital Medical Center, Cincinnati, OH,and Maura Gillison, MD, PhD, Ohio State University,Columbus, Ohio were similar to those from NCI. Of 10cancers studied, nine of nine FA head and neck cancerswere negative for HPV. The one FA vulvar cancer wasHPV positive.The role of the human papillomavirus(HPV) in potentially causing cancersaffecting FA patients is still a majorunresolved controversy.Studies consistently show that HPV is often implicatedin gynecological cancers in women with FA, but thatHPV alone cannot explain the high incidence of headand neck cancers in the FA population. Vaccination isstill recommended for all individuals with FA.Mouse Studies Find a Higher Immune Response toGardasil than Cervarix in FA-deficient MiceHPV plays a significantrole in causing certaincancers in the generalpopulation. It has beenimplicated in some FAcancers as well. Twocommercially availablevaccines, Cervarix andGardasil, are highlyeffective in preventing HPVinfection in the generalpopulation.Mice deficient in Fancc provide an appropriatepreclinical model to test HPV vaccine response in FA,according to Blachy Davila Saldana, MD, OregonHealth & Science University (OHSU), Portland, Ore.Dr. Saldana presented the work of Jason Taylor, MD,PhD and his investigators at OHSU at our fall 2012Symposium. Dr. Taylor found that FA-deficient mice,treated with Cervarix, mount far fewer antibodiesagainst HPV than non-FA (wild-type) mice. However,both wild-type and FA-deficient mice mount a similarantibody response to Gardasil. These mouse studiessuggest that Gardasil might be more effective thanCervarix in protecting FA patients from HPV.The ultimate test of the effectiveness of Cervarix andGardasil in preventing HPV in individuals with FA willhave to come from studies on humans, since mice andhumans do not share an identical immune system.6 Family Newsletter #53

Solid Tumors and FADavid Kutler, MD; Robert Sclafani, PhD; Chantal Stoepker, MSc; Ian Mackenzie, DDS, PhDOne-third of FA adult survivors will develop headand neck squamous cell carcinomas (HNSCC), vulvarcancers and other solid tumors by age 40. Not only doesthe DNA repair defect characteristic of FA patients leadto earlier onset of cancer, it compromises the patient’sresponse to many conventional chemotherapeutic agents.The following is a summary of some thought-provokingpresentations on prevention, early detection, and novelapproaches to treatment of tumors in FA patients.HNSCC Treatment for Fanconi Anemia Patientsin the IFARDavid Kutler, MD, Weill Cornell MedicalCenter, New York, presented his group’s study of themanagement and outcome of FA patients with HNSCC.Researchers studied patients enrolled in the InternationalFanconi Anemia Registry (IFAR) who developedHNSCC and were treated in the United States. The charton page 8 summarizes their data.FA patients have a high risk of developing aggressiveHNSCC at an early age. They can tolerate complexsurgeries to treat the cancer, but careful post-operativecare is needed. Their poor tolerance of radiation andchemotherapy makes additional treatment difficult.However, radiation should be used for high-risk cancersbecause of the poor survival of these patients otherwise.Further study of FA patients’ response to varioustreatments should be initiated, to establish appropriatedoses while limiting toxicity.A Novel Treatment with ResveratrolRobert Sclafani, PhD, University of Colorado, Aurora,Colo., gave an exciting presentation on the effect thenutraceutical resveratrol can have in inhibiting andperhaps eliminating cancer, particularly in FA patients.Resveratrol is found in many plants, including red grapeskins, peanuts and some berries.Previous animal studies on FA mice done by MarcusGrompe, MD’s group at the Oregon Health & ScienceUniversity, Portland, Ore., showed resveratrol caused notoxicity. Dr. Sclafani’s studies on cells from FA patientsshowed that resveratrol selectively stopped HNSCCand ovarian cancer cells with no effect on normal cells.Resveratrol achieves this by damaging cancer cell DNAduring the replication phase, thereby activating the body’sown process to destroy damaged cells. This process isactually enhanced by the DNA repair defect in FA cells.Sclafani’s group is doing further experiments on FAHNSCC cells to test the hypothesis that resveratrolaccomplishes its effect by partially slowing an enzymeused in DNA replication (called polymerase alpha) whichcauses the DNA damage. Next, they will test cells wherethey have knocked out genes that they have previouslyidentified as potential resveratrol sensitizers to identifynew pathways that could be targeted by drugs to enhanceresveratrol’s effect.Dr. Sclafani hopes resveratrol will eventually prove tobe a safe, non-toxic and inexpensive compound to eitherprevent and/or treat HNSCC in FA patients.Symposium Newscontinued on page 8Family Newsletter #53 7

Solid Tumors and FAcontinued from page 7Population of FA patients studied25 with HNSCC; 12 male, 13 femaleAge cancers developed Mean age of 33.5 years, range 15 to 48 years; median 30Symposium NewsLocation of cancer Oral cavity 20; larynx 3; oropharynx 1; unknown 1.Risk factorsHPV status of the tumorSurgery treatmentsRadiation management20% had tobacco and alcohol risk factors; 9 had prior bone marrowtransplant20 underwent HPV testing of their primary cancer, with 15/20 of thespecimens HPV positive23 had surgery; 5 developed a total of 8 post-operative complications;no post-operative deaths12 received post-operative radiation therapy, average dose of 5278cGy (range 2500 to 7020)Toxicities from radiation High-grade mucositis 9/12; dysphagia 8/12; and pancytopenia 6/12;only 4/12 survivedSurvival 5-year overall survival was 27%, with a cause-specific survival of 41%HNSCC Cell Lines as Tools to Develop NovelTreatments for FA PatientsChantal Stoepker, MSc and Johan de Winter,PhD, Vrije Universiteit Medical Center, Amsterdam,Netherlands, presented a poster describing how theirgroup established three HNSCC cell lines from tissueobtained from three FA patients who had squamous cellcarcinoma (mouth mucosa FANC-A; floor of the mouthFANC-C ; and tongue FANC-L). These FA-HNSCC celllines will be used for the development of novel treatmentoptions, including more targeted therapies and perhapspreventive treatments.Therapeutic Resistance in Head and Neck CancersIan Mackenzie, DDS, PhD, Barts and The LondonMedical School, London, presented his investigation ofhow some HNSCC cells lacking Fanconi gene functiondevelop three ominous abilities: the ability to cause localtumors, the ability to travel to distant tissue and causetumors (metastasis), and the ability to become resistantto chemo- and radio-therapies. For this transformationcalled EMT (epithelial-mesenchymal transition) to occur,the cell needs a signal from a protein produced in aseparate pathway called EGF (epidermal growth factor).Mackenzie’s group concluded that if you can blockEGF, then the cells do not transform and cell deathfollows. They examined how well three existing cancertreatments, Cetuximab (also known as Erbitux),Erlotinib and Tyrphostin could block EGF so that EMTwould not occur.This specific targeting of particular cancer cells is abetter way to treat FA patients for whom the side effects ofDNA-damaging chemo- and radio-treatments are severe.Save theDate!25th Annual Fanconi Anemia Research Fund Scientific SymposiumOctober 24-27, 2013 • Hyatt Regency HoustonHouston, Texas • www.fanconi.org8 Family Newsletter #53

Bone Marrow Transplantation: Point/CounterpointOne of the most exciting sessions during the Scientific Symposium was a series of debates concerning decisionsand questions facing parents and individuals with FA. Experts with differing opinions gave a lively defense of theirpositions. This thought-provoking exchange highlighted the difficulty families face in choosing the best treatmentoptions. Larger patient numbers and improving data will help to clarify choices when facing a crucial crossroads.Should danazol be offered beforetransplant for bone marrow failure in FA?YESHelmut Hanenberg, MD, Indiana University,Indianapolis, made the case for offering danazol, avery mild synthetic androgen, to a certain subsetof FA patients. He acknowledged that those withmyelodysplasia (MDS) or leukemia need to betransplanted immediately, but patients with a clinicallymilder disease and/or declining blood counts in theabsence of MDS or leukemia should be offered thisoption. Danazol was well tolerated and did not showmasculinizing side effects in a recent study of eightpatients with FA. Seven of these patients had a robustblood count response, some for several years. Danazolcan provide precious time to make decisions or findan optimal donor. Some patients, perhaps as many as30%, may never need a stem cell transplant. If necessary,patients can still go to transplant after danazol.NOMargaret MacMillan, MD, University of Minnesota,Minneapolis, stated that ten to twenty years ago patientswanted to buy time since transplant outcomes were souncertain. However, survival following bone marrowtransplant has improved greatly and toxicity has decreasedsignificantly. In most cases, there is no longer any need todelay transplant by going on androgens, even androgensas mild as danazol. If there is an appropriate donor, thedownside of taking danazol is that patients might lose themost optimal time to proceed to transplant.Should radiation be used in theconditioning regimen for FA transplants?YES (with certain patients)The answer depends primarily on the type of donoravailable, according to Margaret MacMillan, MD,University of Minnesota, Minneapolis. Neither radiationnor busulfan is used at her center when transplantingpatients with matched sibling donors. The protocol forpatients with alternative donors includes radiation.Minnesota has achieved impressive survival rates witha conditioning regimen including total body irradiation(TBI) of 300 rads for patients with alternative donors.The probability of survival is now 92% for patientswith no prior history of transfusions or opportunisticinfections.Dr. MacMillan stated that both TBI and busulfan havesignificant, but different, toxicities. TBI carries a risk forcataracts and hypothyroidism whereas busulfan can causealopecia, veno-occlusive disease and hemorrhagic cystitis.Neither is more likely than the other to increase the riskof post-transplant malignancies.In a trial of busulfan for nine patients with advanceddisease, the toxicity rate was unacceptable, with the exceptionof BRCA2 patients who tolerated this therapy well. Thestandard of care at this center remains cyclophosphamide,fludarabine, TBI300 and thymic shielding.NOFarid Boulad, MD, Memorial Sloan-Kettering CancerCenter, New York, stated that studies of non-FA patientsshow two factors consistently associated with increasedrisk of secondary malignancies post-transplant: graftversus-hostdisease and radiation. TBI is also associatedwith organ toxicity, growth impairment, gonadaldysfunction and other post-transplant complications.Memorial Sloan-Kettering and other centers havereduced the risk of GvHD using T-cell depletedtransplants. In an effort to reduce the risk of radiationtoxicity post-transplant including the risk of secondarymalignancies, Dr. Boulad and others have initiated amulti-center trial, substituting busulfan for radiation.To date, 27 patients have been treated on this protocol atfour institutions. GvHD has been minimal (two patientsdeveloped grade 1; one patient developed grade 2 GvHD).Twenty-three of the 27 patients are alive and well.Dr. Boulad asks: Why use radiation if there is analternative which leads to a comparable outcome?Symposium NewsFamily Newsletter #53 9

Transplant Outcomes from Curitiba, BrazilSymposium NewsCarmem Bonfim, MD,Federal University ofParana, Curitiba, Brazil,presented a follow-up of126 patients transplantedat her center from October1983 to October 2009 whosurvived two or more yearspost-transplant. Today, 108of these patients survive.Survival outcomes haveimproved dramatically in recent years: 73% of patientstransplanted between 1983 – 2003 survived more thantwo years, compared to 97% of patients transplantedfrom 2003 – 2009. The transplant regimen nowincludes 60mg/kg cyclophosphamide; patients are notgiven radiation or busulfan. In spite of these excellentresults, Dr. Bonfim expressed concern about the longtermproblems patients encounter post-transplant.Patients frequently experienced an increase inendocrine problems post-transplant. Chronic GvHD(cGvHD), infections and malignancies were the mostfrequent causes of death. Eleven patients developedsquamous cell carcinoma of the tongue and only threeare alive, one with active disease. Patients with cGvHDdeveloped this complication much earlier and at ayounger age than patients who did not have cGvHD.But three patients with cancer did not develop cGvHD.Dr Bonfim writes these poignant yet hopeful words:“In the beginning, our poor patients (who didn’t havea chance to go to a dentist EVER) got diagnosed verylate. Our country is big and they didn’t have money tocome back to our unit. Now we have family meetings;we teach them how to take care of themselves and betheir own advocates, and we are very clear about theTransplant survival outcomeshave improved dramatically inrecent years.‘known’ cancer risks. Survival is MUCH, MUCHbetter after transplantation, but it can be even MUCH,MUCH better if we try to prevent or detect cancerearlier. So, transplanted and non-transplanted patientsshould ALWAYS take care, lifelong!”Long-term Follow-up of Patients AfterAlternate Donor TransplantsFarid Boulad, MD,Memorial Sloan-KetteringCancer Center, New York,discussed post-transplantcomplications experiencedby a cohort of 21 patientswho had survived diseasefreefor at least one year,following an alternativedonor transplant. Patientsranged in age from 4.5 to35 years. Eighteen patientsreceived 450 rads of TBI as part of the conditioningprotocol, and three were conditioned with busulfanfollowed by T-cell depletion. None of these long-termpatients developed chronic GvHD.One patient experienced a relapse of myelodysplasticsyndrome three years post-transplant. Two patientsdeveloped squamous cell carcinoma, one of the vulvovaginalarea (with dysplasia present pre-transplant) andone of the tongue. Cancers occurred 3.7 and 7.2 yearspost-transplant, at the ages of 27 and 28.Eleven of the 21 patients, including four multiplytransfused, had low-normal ferritin, while 10 patients10 Family Newsletter #53

had high ferritin levels. Four patients were confirmed tohave iron overload.Endocrine and metabolic abnormalities werecommon. These included primary hypothyroidismin 11 patients, hyperglycemia in four patients, andhyperlipidemia in six patients. One patient developedinsulin-dependent diabetes.Patients often experienced gonadal dysfunctionpost-transplant. Of ten males who could be evaluated,six had evidence of germ cell dysfunction, and allsix evaluable females had ovarian dysfunction, withnormalization in two females. One female had asuccessful pregnancy after TBI.Between 1990 and 2010,127 FA patients underwentalternative (non-sibling)donor hematopoietic celltransplantation at theUniversity of Minnesota,Minneapolis using one offive consecutive clinicaltrials. No other transplantcenter has transplantedmore FA patients usingalternative donors. Stem cell sources included bonemarrow or cord blood from related donors (n=7) orunrelated donors (n=120).All patients received cyclophosphamide and total bodyirradiation (TBI). Sequential changes were made toprevent graft-versus-host disease (GvHD), graft failureand infections to enhance survival. GvHD risk wasgreatly reduced by the use of T-cell depletion in 1994.The introduction of fludarabine in 1999 was a “gamechanger” and greatly increased patient engraftmentand survival. Thymic shielding has hastened immunerecovery and reduced post-transplant infections. Thelowest effective dose of TBI was determined to be 300rads. With each new protocol, patient survival improved.Post-transplant patients needmulti-disciplinary follow-up.Patients with FA can be cured of their hematologicdisease with alternate donor transplants, but these patientsremain at risk for a variety of complications. Posttransplantpatients need multi-disciplinary follow-up. Dr.Boulad noted that there is a tendency for poor complianceconcerning post-transplant care in this population.Twenty Years of Alternative Donor Transplantationat the University of MinnesotaMargaret MacMillan, MD stated that the overallsurvival for all five protocols was 61%. Poorer survivalwas associated with transfusions prior to transplant,invasive fungal or gram-negative infections, seropositivityfor cytomegalovirus, and use of cord blood instead ofbone marrow. Age is also a factor, since younger patientsdo better, yet Dr. MacMillan emphasized that oneshould not go to transplant just because of age.For patients on Trial 5 who had no transfusions orinfections before transplant, survival was 92%. Patientson Trial 5 who had been transfused or presented withserious infections had a 67% survival.The University of Minnesota transplant program willNo other transplant center hastransplanted more FA patientsusing alternative donors.continue to modify the transplant protocol for patientsreceiving alternate donor transplants, in an on-goingeffort to improve FA patient outcomes.Symposium NewsSince 1989, the Fanconi Anemia Research Fund has awarded 183 research grants to 99researchers at 54 institutions totaling $15.3 million. For details, go to www.fanconi.org.Family Newsletter #53 11

New FA Gene Therapy Trial Announced in EuropeScience and Medical NewsEuropean researchers, under the leadership of JuanBueren, MD, CIEMAT, Madrid, announced thata five-year gene therapy project for FA-A patientsopened on January 28, 2013. The stem cell collectionphase is now open, but the gene therapy component isawaiting final authorization. This European Consortium(EUROFANCOLEN) is composed of FA researchers andgene therapists who have developed the therapy protocolafter years of preclinical and clinical research.The clinical trial will use new drugs to collect highnumbers of hematopoietic stem cells from FA patients.These cells will then be exposed to lentiviral vectors thatcarry the therapeutic FANCA gene. Lentiviral vectorsshow improved safety and efficacy compared to vectorsused in previous clinical trials.The gene therapy trial will initially enroll five FA-Apatients. The objective of this project is to develop a safe andclinically efficient gene therapy protocol for FA-A patients.Small Molecules Testing Meeting Leads toNew Clinical TrialThe Fanconi Anemia Research Fund convened aSmall Molecules Testing for Fanconi Anemia meetingin Portland, Ore., Nov. 2-3, 2012, that was attended by38 participants. The meeting’s overall objective was toform a federation of researchers willing to test prioritizedsmall molecules (drugs or compounds) and identifycandidates for clinical trials. Discussion focused aroundthree key questions: 1) What small molecules mightmodify the FA cellular phenotype in vitro or in vivo?2) What mechanistic insight might be exploited to guidesubsequent work? 3) What is needed to move theseagents to clinical trials?As a result of the meeting, a group of researchers isdesigning a clinical trial using N-acetylcysteine (NAC).NAC is an efficient pro-drug for cysteine, an amino acidthat regulates a number of redox reactions, includingDNA synthesis and the repair of oxidative DNA damage.As FA patients show strong evidence of redox imbalanceand DNA damage in bone marrow, the researchershypothesize that oral NAC may be a beneficial therapyin FA. Oral NAC has been used for almost 50 years forother conditions including cystic fibrosis and has provensafe for children and adults. The current plan allows forenrollment of up to 40 FA patients starting late this year.Watch for more information as this trial moves forward.Advances Made in Correcting Appearance ofWrist and Arm in Children with Absent RadiusBy Scott Kozin, MDMany children with FA are born with partial or totalabsence of the radius. Complete absence of the radiusis the most frequent variant, and causes the hand tobecome perpendicular to the forearm. Correction ofthe angular appearance of the wrist and the bowedappearance of the arm is sometimes accomplished bya surgical treatment known as “centralization,” whichinvolves placing the wrist on top of the ulna. Sometimesstraightening the ulna may also be necessary. Althoughthe initial correction is impressive, it usually does notlast and the arm reverts to its original appearance. A newmethod, involving transfer of a toe (without the skin) tosupport the wrist, shows considerable promise. The toeis placed adjacent to the wrist and spans from the ulnato the wrist bone. The arteries and veins are reconnectedwithin the arm so that the bone and growth platessurvive. The toe and its growth plates grow along with thearm, providing stability. Correction has been maintainedin approximately 50% of cases. Please contact me atskozin@shrinenet.org for additional information.12 Family Newsletter #53

Adults with FA Meeting Draws Record AttendanceEric Mittelsteadt, age 35. Eric was diagnosed with FAat age 33. He received a bone marrow transplant in2012 and attended his first Meeting for Adults withFA. “Everyone at the meeting has inspired me insome way.”Twenty-four adults with Fanconi anemia from tencountries, ranging in age from 20 to 47, attended theFund’s fourth Meeting for Adults with FA in Austin,Texas in October, 2012. Twelve attendees were first-timeparticipants. The participants heard presentations fromforemost experts on Fanconi Anemia 101, Adult FAStem Cell Transplantation, Gene Therapy, Head andNeck Cancer in FA, Gynecologic Considerations, andNutrition. The meeting included support group sessionsfor adults with FA, their parents, partners and spouses,and opportunities for oral cancer screenings and FAresearch studies. The group had a spirited dinner touraboard an amphibious vehicle, including live music anda plunge into Lake Austin. A good time was had by all.The fifth Meeting for Adults with FA will be scheduledin spring 2014.Adults with FA Meeting“Fantastic to meet other FA patients for the firsttime, and to take part in research opportunities.”“It was our first time. It was very informativeand well-organized. Thank you very much foreverything, and for making it possible for us toattend.”“This meeting is so heartwarming to me and myson. I feel a connection to others going throughmany of the same things we have been through.”“It was a real eye opener. Meeting families,patients and friends, and seeing we are notalone.”“The support group meeting was a movingopportunity to connect with others navigatingadulthood with FA. Although we all have uniquelife stories and illness experiences, FA becomescommon ground that allows us to share andlearn in a place of non-judgment and support.”“I feel so fortunate to have an organizationmeeting the needs of a group so small. I nevertake it for granted. I hope to give back more thanI receive in the near future.”“I appreciate the chance to hear others’ FA stories.I learned something in every session. I am sohappy that my husband and I could both attend.”“Amazing. The highlight is bonding with thosewho also have FA. We all seem to get along sowell very quickly.”“I was able to meet so many wonderful peoplefrom around the world in our little community.I loved hearing everyone’s stories and how FAaffects them. It brought me hope for the future.”Family Newsletter #53 13

Adults with FA: Trailblazers in the FA CommunityBy Nancy Cincotta, MSW, MPhilAdults with FA MeetingOnly people who livewith Fanconi anemia canunderstand precisely whatit means to have FA. Thecumulative experienceof the adult FA cohort isguiding the medical andemotional road map for thispopulation.The caring and theconnections among personswith FA and their families at the adult meeting wasnothing short of remarkable. The ability to discuss life,accomplishments, aspirations, fears and the reality ofFA promoted a high level of trust, understanding andcamaraderie. There was a “kindness” in the room, amonglong-time friends and among many who had just met,but who were not strangers to FA.The meeting in Austin served as an opportunity for thecommunity of adults to learn, connect and grow. Thetask for young adults is to gain enough expertise aboutFA to make informed decisions and to ultimately be theprimary force in their own care. This gathering allowedfor lively dialogue and provided a way to promote andsupport an enthusiasm about self-care.As adults grappled with some of the more dauntinginformation from the educational sessions, there was alsoa feeling of empowerment about the things which arecontrollable, such as diet. Wisdom came in all differentways. At one point someone advised, “Don’t be afraid ofthe C word.” Another powerful component of the adultmeeting was the extended time with spouses, parents,siblings, cousins and partners. FA affects the whole family.Fanconi anemia poses inherent challenges and limitations.For example, drinking alcohol has its role in society, yet forpeople with FA the risks are worrisome. Although medicalrecommendations suggest severely limiting or abstainingfrom drinking, there is a pull to fit in, to be social as othersare and to have the freedom of those choices.For more information on the adult experiencewith FA, please refer back to the summary of AmyFrohnmayer’s presentation in the FA Family Newsletter,Issue 50, Oct. 2011.Some “truisms” about being anadult with FA• You are part of a very small community.• You travel where few have been.• You reach adulthood and immediately becomea role model – a hero to those younger thanyou with FA, and to every FA parent.• You are likely to have to make complicatedmedical decisions in your lifetime.• You plan your future knowing the possiblemedical complexities.• You have additional risk factors that requireyou to think about your lifestyle choices.• You may experience closer relationships withyour parents, siblings, and partners than manyof your peers.• You may work in partnership with yourparents or siblings around your medical care.• You will have to enter into a dialogue about FAas significant people enter your life.• You have to consider medical insurance as youmake choices in employment.• You may have “FA Wisdom,” an understandingand appreciation of life unequalled by others.Strategies for living withFanconi anemia• Maintain hopeful realism• Engage in life: Aspire to new heights• Seek independence: Find support• Experience hope: Mitigate against uncertainty• Find balance: Impose boundaries and keep FAin its place• Accept limits: Enhance capabilities• Allow for setbacks: Applaud accomplishments• Recognize isolation: Seek friendship• Empower oneself: Take on challenges14 Family Newsletter #53

Eating Well May Help Protect Against CancerMany adults with FAare repeatedly warned toavoid harmful activitiesand substances. In her talk,“Nutrition: Eating Well forTaste and Health,” CarolCeresa, Registered Dietitian,Veteran’s AdministrationMedical Center, SanFrancisco, provided patientswith helpful tools todiscover a healthy diet and foods which may help protectagainst cancer.Ceresa described the ideal diet as plant-based. Sheemphasized eating vegetables and fruits, includingProtective foods, spices,phytonutrientsBenefitswhole grains and fat-free or reduced fat dairy productsas a nutritional strategy. She encouraged eating leanmeats, such as poultry and fish, as well as beans, eggsand nuts. Everyone’s diet should be low in saturated fat,cholesterol, salt and added sugars, and should includeprotective herbs and spices.Ceresa highlighted substances and foods (noted inthe chart below) that may be especially beneficial inreducing risk for cancer in FA. Of particular note arecancer-fighting properties found in onions, mushrooms,strawberries and the spices turmeric and curcumin. Astudy of quercetin, a flavonoid and strong anti-oxidant,found that this naturally occurring compound couldprevent esophageal and oral cancers. Quercetin is foundin onions.Adults with FA MeetingZincFish and walnutsOnionsCurcumin (the activeingredient of turmeric)Rosemary, pomegranatesMustard seeds, horseradish,garlic and wasabiMushrooms and Brazil nutsThymeStrawberriesPecans, walnuts, avocado,parsleyMay help prevent oxidative stress which leads to DNA damage.Contain omega-3 fatty acids, shown to protect against colon cancer.Walnuts are an excellent source of antioxidants.Contain quercetin, which slows cancer cell growth, can stop metastasisand force cancer cells to die.Antioxidant and anti-inflammatory properties. These spices inhibitactivation of genes that trigger cancer and inhibit spread of cancercells. Curcumin extract is especially potent.Powerful antioxidant components; shown to suppress/kill cancer cells.Contain allyl isothiocyanates (AITC), which have distinctive healingpower.Mushrooms (especially shitake) contain linoleic acid, shown to haveanti-cancer properties. Mushrooms and Brazil nuts contain selenium,which helps protect cells from damage (1 nut/day meets one’s needs).May help prevent age-related reduction in antioxidants.Shown to decrease the grade of precancerous lesions and slow theirgrowth in most participants in one study.Powerful sources of helpful antioxidants. Avocados are an excellentsource of glutathione, an antioxidant important in preventing cancer.Writes Ceresa: “Research has shown that certain compounds inavocados are able to seek out precancerous and cancerous oral cancercells and destroy them without harming healthy cells.”Family Newsletter #53 15

Outcomes for FA Adults Transplanted atMemorial Sloan-Kettering Cancer CenterAdults with FA MeetingAt the Adults with FA Meeting in Austin, Texas inOctober, Farid Boulad, MD, Memorial Sloan-KetteringCancer Center (MSKCC), New York, gave an historicaloverview of bone marrow transplantation. He then spokespecifically about adult transplant outcomes at his centerfrom April 2001 through March 2012.Over the past ten years, 12 adults with FA haveundergone bone marrow transplants at MSKCC. Theyranged in age from 19 to 36 years. Ten of the 12 adultshad been diagnosed with myelodysplastic syndrome orleukemia. Eleven were conditioned using radiation, andone received busulfan. In the future, all patients will begiven busulfan as part of the conditioning protocol.Six did well, but six did not survive their transplant.Dr. Boulad noted that he is optimistic, nonetheless,because having six survivors at these ages and diseaseseverity would not have been thinkable ten years ago.Study Underway to Detect Oral Cancer in FAIf you or someone in your family is diagnosed with oral cancer, please consider participating in a newresearch study funded by FARF to determine if saliva can be an early detection tool for oral cancer.Contact Teresa Kennedy as soon as possible after diagnosis and before treatment at teresa@fanconi.org or 888-FANCONI. Teresa will coordinate your participation with David Wong, DMD, DMSc, thestudy’s principal investigator. For more information, visit Research Highlights on our website.Congratulations!Christine Bray (FA) andDonald Morse were wedon March 28, 2013.Lisa Doyle Kinsella (FA)and Terry Kinsella weremarried June 22, 2012.Nicole Fauver and RondoFraley married on August20, 2012.16 Family Newsletter #53

Hopeful For Our Future TogetherBy Maly Lee2011 was a veryexciting year forour family. We hadpulled through oneof the toughest timesof our lives just theyear before with myhusband Eddie’slayoff and were nowlooking forward to abrighter future withhis new job. Withinjust a few months,Eddie was promoted,our oldest child wasaccepted into ourchoice of preschool and we were anticipating our thirdchild. We actually started to feel that we were finallygoing to make it.At my 20-week ultrasound, however, all that changed.The test showed that a few things were amiss with ourbaby. After numerous examinations, we finally heard thename of Fanconi anemia. That began the first leg of ourunwilling journey into FA.Our baby boy was born on March 13, 2012 andimmediately rushed to the NICU. We named himMason. That night we learned that his stomach wasattached to his lungs, so his esophagus ended in a pouchgoing nowhere. Two days later he underwent correctivesurgery, but it was unsuccessful. The gap between hisesophagus and his stomach, now removed from hislungs, was too wide for them to repair until he was older.In the weeks after his birth, we learned many newthings about Mason. He had a bicuspid aortic valve, nothumb on his right hand, a non-functional thumb onhis left hand, a shortened radius in his right arm whichcaused a club hand and hearing loss in his right ear.It was a very tough time for us. All the hardship fromprevious years felt like nothing compared to what wewere now facing.Since FA is genetic, we had our other two children,Jiena and Eddison, tested for it as well. Jiena’s resultscame back positive. Not wanting to let FA destroy us,we went ahead and searched for potential bone marrowdonors. Eddie, our unaffected son Eddison, and I weretested. None of us was a match to either Mason or Jienaso we decided to check the national registry. We receivedalarming news: only a handful of potential matchescame back and our hematologist had no confidence inthem matching enough to be donors for our children.Not only that, but we found out that Jiena has one ofthe rarest tissue types in the world. Her platelets weredropping and her bone marrow cellularity was already at20%. We felt broken beyond repair.Still, we were unwilling to give up. Since then, we’vebeen raising awareness non-stop within our Hmongcommunity. We’ve also started working with the Be TheMatch organization to register more donors, especiallythose of color. The University of Minnesota’s Gophersfootball and other teams decided to help us as well.We’ve been met with a lot of support wherever we’vegone. Support has come from within our Hmongcommunity as well. Illnesses typically are not acceptedvery well if you are Hmong. However, the support wehave received so far has been almost overwhelming.It was actually much harder to make our own parentsunderstand. To this day, my in-laws still have faith thatthe FA will disappear. I wish it were that simple.Unwilling to give up, we’ve beenraising awareness non-stopwithin our Hmong community.Amazingly, because of FA we’ve learned to slow downand not take things for granted. We now take one dayat a time and make every moment memorable. Evenmedical appointments are now viewed as trips with funto be had. Mason still has a lot of medical needs thathave yet to be addressed, and matching donors stillhave not been found for him or Jiena. But, we are againhopeful for our future together. For Mason and Jiena,our family will never give up.Family NewsFamily Newsletter #53 17

Why We FundraiseFamily NewsBy Becky BrinkmannI admit I was flattered when asked to write an articlefor this newsletter, but I thought, “are you kidding me?”What in the world can I say that hasn’t already been saidand felt by every parent dealing with Fanconi anemia?And then I learned my topic was fundraising!We finally began fundraising a year post-diagnosis. Itwas nothing elaborate; we started with a family letter. Itseemed important to put our story into words.Prior to July 2011, we were a normal family, althoughwe have five children: Sydney, 13; Chad, 10; Zach, 6; andSamantha and Summer, 4. That July our world beganspinning a bit faster. Sydney had routine blood workdone, and the results were unexpected and quite shocking.Her white, red and platelet counts were all extremelylow. We contacted St. Louis Children’s Hospital for anappointment in the hematology department.After more appointments and a stay in the hospital,we heard the gut-wrenching words: Sydney has Fanconianemia and will require a bone marrow transplantsoon. The doctors told us the best hope for a successfultransplant is a matched sibling donor. Chad, Zach,Sam and Summer were tested to determine if anyonewas her match. We received wonderful news that ourever-active Zach was a perfect match for her. This was abit of a relief. We thought we were finally given a littlebreathing room.Unfortunately, a couple weeks later our hopes werecrushed as we were given the devastating news that Zachalso had FA and low blood counts. One child with alife-threatening disorder is hard enough, but now two ofour children? The tears came and numbness set in. Thequestions began flying: How could this be? Why? Arethe doctors sure? This just didn’t seem possible. Sydneyand Zach are so active and have never shown any signs ofillness, much less a fatal disorder. This must sound veryfamiliar to some of you right now.At this time we feel very blessed that Sydney andZach’s blood counts have remained stable (low, butstable), and they have been able to remain normal kidswith normal activities.So what do we do now? Now we have to get to workto help find a cure for this challenging disease. We beganfundraising efforts for the Fanconi Anemia ResearchFund. Over 85% of the Fund’s income comes directlyfrom family fundraising from families just like ours. Thisorganization is amazingly helpful to all the FA familiesby providing emotional support and funding research.Researchers and specialists continue to try to make thepainful transplant process more bearable and successfulfor patients, and to find better therapies for this disease.But all of this takes money. The simple fact is that weneed to fundraise to save our children!If we who have the most to lose do not fight, whowill? We have met families who have lost their children.We have met a family who had to decide whether tocontinue the fight or to make the most of the time thatThe simple fact is that we need tofundraise to save our children!was left. I do not want to have to make those decisions.I do not want to suffer this unbearable, unspeakable loss.We need to fundraise to help the doctors and researchersdevelop improved treatments and, most of all, to FINDA CURE!Is our family going to be the fundraising family of theyear? Not even a chance. But we can get ourselves outthere and help the cause. We can begin to put our markon FA and find answers.18 Family Newsletter #53

Before and After a DiagnosisBy Ana Alejandra Tabar ConchaI was born in the Dominican Republic, a smallisland in the Caribbean with a lot of limitations. I havea wonderful family: parents, siblings, boyfriend, andfriends who make me very happy. However, Fanconianemia has touched my life with great sadness.When I was fourteen, my family discovered that myoldest brother had a rare disease called Fanconi anemia,which made him weaker and weaker. They also learnedthat I had FA, but I was not concerned at the time.My family fought day after day to understand andimprove my brother’s condition. They got him to theUS for treatment, where the disease was most known.Unfortunately, my brother died the same year he wasdiagnosed. This marked a before and after in our lives.I have always been very active and happy, and Inever worried about FA. I’ve never felt tired or hadany limitations in my everyday life. I went to college,graduated, and worked at the same time. I even went toMadrid to work on a master’s degree.A year ago, I started to feel pain in my stomach, and Iwent to the doctor. My blood counts were very low, andwe knew FA was back in our lives. My life turned aroundagain, and became one of constant worry and a desperatesearch for help.Doctors say I can’t work and must reduce my activitiesand hobbies to ten percent of what I did before. Inthe Dominican Republic there’s little experience andknowledge of FA. We desperately started looking for otheralternatives and information outside of our country.Through our search, we found Dr. Farid Boulad atthe Memorial Sloan-Kettering Cancer Center in NewYork. Here was the hope we were looking for! Dr. Bouladtold me I needed a bone marrow transplant, and I alsodiscovered things I had never imagined about FA.Dr. Boulad also told us about the Fanconi AnemiaResearch Fund, a wonderful team that works and fightseveryday for our health and well-being. But the reallyamazing part was just about to begin. I attended aconference for adults with FA. Wow! Such an amazingblessing! I went from feeling alone, that nobody couldunderstand how I felt, to feeling like family with thepeople I met. These 24 people from around the worldhad my same disease. Not only that, they were happypeople: fighters, heroes, friends, siblings, and wonderfulhuman beings who have been through more painfulmoments than I have. I also met doctors, researchers, andtransplanted and non-transplanted patients.I decided that FA is not goingto imprison me or make meunhappy.At the conference, I heard others speak about livingwith FA. They made me realize that we have to fight thedisease. I decided that FA is not going to imprison me ormake me unhappy, and that I belong to this small groupthat understands and supports me.Right now I am in need of medical treatment anda transplant, but I’m without a donor or money fortransplant. I am fighting to reach my goal step by step.My fight continues, but I also feel joy and happinessin living my life to the maximum every moment asbest I can.Find us on Facebook atwww.facebook.com/fanconianemiaresearchfundFamily NewsFamily Newsletter #53 19

Fundraising Connelly StyleBy Kim ConnellyFamily NewsA brief descriptionof how we began.John and I met, fellin love, married andplanned our livestogether down tothe color of towelshanging in our masterbathroom. Lessthan a year later, wewelcomed our firstdaughter. After twomiscarriages, Evangraced our lives, butalong with him came the diagnosis of Fanconi anemia.We were devastated and overcome with despair. After ayear or so, we adjusted to reality and began settling inwith FA like an old married couple on a comfy couch.Next came four more miscarriages, three additionaldaughters, and many comments that we should reallyget a television in our bedroom! Lastly, we welcomed thecaboose of our family, Becca, who sadly has FA, too.Our lives are busy. We have six children betweenthe ages of two and thirteen. John is president of aUS company based overseas and often travels. I am aregistered nurse but stay at home as CEO of all thingsConnelly. The children’s activities consist of lessonsfor flute, drums, piano x3, violin, karate, mother/daughter book club, Girl Scouts x2, robotics, orchestraand band x2, not to mention the social schedule of athirteen-year-old girl! Our family is very involved in thelives of our extended family and friends, the children’sschool, our church and our small community. Our dailycalendar changes throughout the day, depending onforgotten lunches, illnesses, last-minute study sessionsand two-year-old meltdowns! Launching the kids (andhusband) out the door in the morning sometimes seemscomparable to launching a shuttle into space!Why, we are often asked, would you repeatedly addfundraising for FARF to your already full docket? Weare currently working on our seventh Evan’s EnchantedEvening (EEE), a dinner dance with a live and silentauction. We have previously raised funds via cookbooks,vendor fairs, bake sales, scrapbooking days, non-uniformdays, catalog and home parties and an annual Christmascard plea. We know how much time fundraising requires.We adjust to parts of our lives being public, and we areprofessionals at accepting offers for help, asking for helpand being thankful and humbled for help. You’ve heardthe reasons why not to fundraise numerous times. Please,now, let me explain to you why John and I do fundraise.Our initial fundraiser took root after we attended ourfirst FARF regional meeting. When we heard about theresearch possibilities, we felt like sailors lost at sea finallyseeing inhabited land! We knew that the only individualsraising research money would be the small group affectedby this rare disease. We jumped in, not knowing whatwe were doing, and nine months later our first EEE tookplace. The evening took our breath away with powerfulemotions of love and generosity. These emotions stillwarm our souls today.Fundraising is as important as finding the rightdoctors to care for Evan and Becca. If there is no moneyto fund FA research, FA research will decrease, as willthe hope we feel regarding the only part of this diseasewe can control. If the day ever comes when we aregrieving the loss of one of our children, I will not lookback and wish I had done more for them. Comfortingthose in our FAmily who have shared the mourning oftheir FA angel leaves me grieving for the beautiful soulWhy, we are often asked, wouldyou repeatedly add fundraising forFARF to your already full docket?who has passed and wondering if it will be our turn next.We fundraise to bring even greater meaning to theseangels’ lives by honoring what their struggle has taughtthe researchers and doctors, which in turn will be used tobenefit our FA loved ones who continue to fight.There will never be a perfect time to fundraise. Youwill never know all that is needed to do the task withoutfalter. However, you will never regret taking action,knowing that something else was far more importantthan your fears: hope for those with Fanconi anemia.20 Family Newsletter #53

In Loving Memory“For some moments in life there are no words.”Sophia Sitzerman............. 2/28/07 - 12/7/12Luke Monaghan............... 6/17/89 - 1/11/13Robert Haroldsen............. 7/31/97 - 12/8/12Brian Kerr........................ 2/24/02 - 12/8/12Austin Jaros-Riley........... 2/28/96 - 2/3/13FA Family Meeting at Camp SunshineCasco, Maine • June 28 - July 3Family NewsQuestions or need financial assistance for travel?Please contact Teresa Kennedy at teresa@fanconi.org or 1-888-FANCONI.FARF Can Help You FundraiseMore than 90% of the Fanconi Anemia Research Fund’s annual budget comes from family fundraising.We’re here to help make your events a success. We can:• Provide sample fundraising letters and help you edit your letter• Use your photos to personalize your letter, event invitation or brochure• Use your mailing list to send your letter or invitation from our office• Provide ideas, information and display materials for events• Provide a PowerPoint or video presentation to use at your events• List your event on our website• Send a thank-you letter and tax receipt to your donorsWe ask that all fundraising events be covered by liability insurance. Insurance for a one-time event is oftenavailable through a family’s homeowner’s insurance policy as a relatively inexpensive insurance rider. Pleasecontact the Fund if you need assistance obtaining or paying for this required insurance.Please ask your donors to make checks payable to the Fanconi Anemia Research Fund. When a donationis received, we’ll generate a letter of thanks with a tax receipt, and we’ll notify you that a donation has beenmade in your name.We appreciate all your efforts to raise funds for FA research and family support. You are making a difference!Family Newsletter #53 21

Fund Claims First Place in Online Contest!FundraisingAllstate Insurance Companyannounced the Fanconi AnemiaResearch Fund as the firstplacewinner in its Cash forYour Community program inNovember. The program was a three-week campaignduring which people voted for their non-profit of choicein the Eugene, Ore. area. Cash awards were given to thetop three charities.Long-time Fund supporter and fundraising “ShiningStar” Sharon Schuman (see our 2011 Donor Newsletter,page 11) spotted this contest. Sharon quickly brought thecontest to the attention of FA parent Peg Padden, whopromoted the opportunity on the family e-group. Withsimply one vote per household, Peg wrote, “there is noeasier way to raise money than this.” The FA communityagain rallied, and raise money they did. Despite enteringthe contest a week after it opened, the Fund received thehighest number of votes and was awarded the top prizeof $35,000!The small but determined FA community is trulyamazing. As many recall, we won the $50,000 top prize,plus an additional $65,000 in donations, in ParadeMagazine’s Giving Challenge in 2008. Next, we won$25,000 in Chase Bank’s Community Giving programin 2011. Peg ended her call-to-action email with an aptquote by Margaret Mead: “Never doubt that a smallgroup of thoughtful, committed citizens can change theworld. Indeed, it’s the only thing that ever has.” Thankyou all.FA Parent’s Fundraising Surpasses $1 Million!Peg Padden’s sons Jake and Spencer were diagnosedwith Fanconi anemia in 2003. Sadly, Jake died laterthat year due to complications from a bone marrowtransplant. In response to the diagnoses and tragedyin her family, Peg began tirelessly campaigning to raisemoney for FA research. In less than ten years, Peg’samazing efforts have earned more than $1 million indonations to the Fanconi Anemia Research Fund!One of Peg’s fundraisers is an annual Valentine FanconiAnemia Run/Walk in Portland, Ore. After nine years,many avid runners see the race as the unofficial kickoffto the running season. Readers of The Oregonianoverwhelmingly voted this year’s race the Best FebruaryRace in the state. The race added 21 new donors to theNational Bone Marrow Registry and raised $35,000.In addition to the Valentine FA Run, Peg alsoorganizes an annual golf tournament, BBQ, and raffle,among other efforts. Peg is an enthusiastic, inspirational,and resourceful fundraiser for FA research, fullyunderstanding that every dollar can make a difference.Thank you, Peg, for your many efforts!SCC Fact Sheets AvailableRegular screenings for oral cancer are criticallyimportant for FA patients. The Fund produced factsheets about squamous cell carcinoma to share withyour dentist and ear, nose and throat doctor (ENT).FA patients and families are encouraged to takea fact sheet to every dentist and ENT visit. Factsheets—in English, Spanish, Afrikaans, Dutch,French, German, Hebrew and Italian—are availableon our website or by calling our office.Online Fundraising Tools AvailableQgiv and Hobnob are online fundraising toolsavailable through the Fanconi Anemia ResearchFund. Through Qgiv, we can accept online donationsdirectly on our website. Hobnob offers people acustomizable fundraising page for events, enablingonline registrations and donations in advance and atthe event. Contact FARF for details on how Qgiv andHobnob can enhance your fundraising!22 Family Newsletter #53

Family Fundraising Efforts in 2012In 2012, FA families raised $1,465,071 for Fanconi anemia research. In all, 188 families raised funds including99 families who raised $500 or more. Six families raised $50,000 or more. We extend our thanks to all FA familieswho have worked so hard to raise critically needed research dollars while simultaneously managing the personaldemands of Fanconi anemia. We are extremely grateful to all of you.$575,000 and upDave, Lynn and Amy Frohnmayer$173,000Kendall & Taylor Atkinson Foundation withthe Nash and Atkinson Families$86,000 – $106,499Kevin and Lorraine McQueenPeg PaddenGlen Shearer$52,000 - $59,999Chris and Susan CollinsSteve and Jennifer Klimkiewicz$30,000 - $38,999Robert and Barbara CaponePeter and Tara Himmelreich$18,000 - $22,999Kerrie BrannockMike and Tracey BrannockMark De Groot and HannekeTakkenbergKaps for Kendall$10,000 - $12,499John and Martina HartmannBrian Horrigan and Amy LevineTodd and Kristin LevineMark and Diane Pearl$5,000 - $9,499Patti CarterJoseph and Nancy ChouMary Eilleen ClearyStuart Cohen and Deane MarchbeinDarrel and Kalani DeHaanDavid and Mary Ann FiaschettiAlan and Rachel GrossmanCharles and Katy HullJack and Lisa NashGeorge and Kathryn ReardonMark Ritchie and Lisa MingoKevin and Katie RogersBob and Andrea Sacks$1,000 - $4,799Peter and Donna AbramovJimmy and Jenny ArmentroutJohn and Audrey BarrowMark and Linda BaumillerIsrael and Mary Jo BecerraDarryl Blecher and Diana FitchRandy and Nancy BloxomJeffrey and Donna BoggsRichard and Tena BosonChris and Jennifer BranovDonald and Danielle BurkinChristopher ByrdDavid and Kim ChewNatalie CurryDonna DellaRattaBrian and Jennifer DormanDavid and Kelly DunnockAndrew and Jennifer GoughBen and Stephanie GriggsOwen Hall and Margaret KastingBob and Victoria HathcockJeff and Beth JanockJohn and Karilyn KelsonErik Kjos-Hanssen and Turid FrislidSejin Kwon and Jee-Ai KimMark and Angela LammTim and Mary Ann LanaGregory and Lynnette LowrimoreBill and Jackie LucarellTue Marker and Kirstine la CourRasmussenOrion and Lisa MarxDan and Nikki McCarthySheila MeehanAdam and Olivia MindleIan and Tricia MitchellTyler Morrison and Rachel AltmannRon and Fredi NorrisFred and Nancy NunesMichael and Katharine OrmondDerek and Ginger PerssonPeter and Janice PlessJohn and Dianne PloetzStanley and Lisa RouthRon and Elesa SchaeferMatt and Diane SenatoreBryan and Karen SiebenthalMitzi SpeelmanAdam and Jennifer StewartWilliam and Mary UnderrinerMarc WeinerMichael and Kim WilliamsSean and Kristin YoungUp to $999Michael and Jennifer AggabaoLeighsa AndersonAndrew and Vicki AthensKen and Jeanne AtkinsonYavin Atzmon and Sharon HarariJason and Robin BaldwinCherie BankGerald BarbierJulie BarbierTyren and Kelly BennettJohn and Francene BerglundJohn and Elaine BeyerJames and Tracy BibyMichael and Diane BradleyRyan and Becky BrinkmannMerry CableDaniel and Melinda ColemanJohn and Kim ConnellyAshley CrowBrian and Margaret CurtisBill and Pat DanksTony and Phyllis DellapentaWendy DelzellJames and Carol DillonPat and Mary DiMarinoAntonino and Marie Di MercurioDelbert and Linda DotsonEd and Janice DuffyLindsay and Sandra DunnGene and Lynn EddyGinger EggersSharon EllisBilly Jo and Debbie EstepJames and Crystal EubankCurt and Crystal FalesJustin and Britteny FerrinDoreen FlynnIsrael and Rivka FriedlanderGary and Melody GanzBrian and Lisa GillottPat and Maria GleasonAllen Goldberg and Laurie StronginJoseph and Patricia GriecoDavid GuidaraYoung Ju and Kwang Sick HaRacquel Hanna-PurserEric and Elisabeth HaroldsenMarzban Hathiram and MahazareenDasturJeff HoffmanMary HopperLester and Nancy JansenLila KeleherChristopher and Dana LambErnie and Nancy LandwehrHynchul Lee and Young Ran ChoiEugene and Renee LemmonPeg LeRouxLarry and Gayle LicariTanner and Jessica LindsayMichael and Regina LondonRoberta and Glenn MagillKevin and Barbara McKeeCatherine McKeonPaul and Brooke MilesJim and Holly MirendaSydney and Betsy MooreKenny and Lisa MyhanTony and Lina NahasLouis and Virginia NapolesJack and Tammy NealBob and Alice NicholsonRobert and Mary NoriLorraine O’ConnorMichael and Katherine O’HalloranJoshua and Crystal PepperMichael and Joanna PerosMichael and Kay ProctorLynn and Shirley QuiliciPedro and Marina RaveloPaul and Rena RiceGail RichardsonLeonard and Jan RileyPaul and Catherine RodwellDov RomLes and Nancy RossMaureen RussoRick and Lynn SabloskyRichard and Dolores SatterleeBill and Connie SchenoneSevert and Beatrice ScoreThomas and Brenda SeifordLillian ShermanJack and Debbie SiegelAlain SilverstonAriel Sitzerman and Gabriela BernalAlfons and Karin StaabVicki StephensGreg and Brandi StuartCharles and Jennifer SumrallPaul and Debra SundsvoldUriel and Gloria ToribioSteve and Melissa TurnerTom and Kathy UnoBob and Stacy Van SingelMike and Beth VangelLouis and Theresa ViolaJoe and Wendy VitirittoXiaoqing Wang and Ning LiuBrenda WitherspoonVictor WizmanTom and Marge ZaborneyFor the fundraising events calendar andhelpful fundraising materials and tools,visit www.fanconi.orgFundraisingFamily Newsletter #53 23

Fundraising ScrapbookGung Ho forFundraisingGung Ho! A Dragon Boat Story is nowon the shelves. This children’s booktells the story of the “Gung Ho!”dragon boat team as they preparefor a race. The team works so welltogether that they are taken on afantastic flight through Philadelphia,arriving at the finish line just in timeto win the race.Susan Hughes, a friend of theHimmelreich family, wrote the book.All proceeds from the book sales willbe donated to theFA ResearchFund in honorof MeganHimmelreich.You can purchasethe book atwww.createspace.com/4125442.Kicking Things UpFor the third annual KICK FAkickball tournament last year,Matt Pearl, 16, FA, decided to“kick” things up a notch byraffling off his dirt bike as aprize. The raffle sales netted$1,150 in addition to the morethan $10,000 raised by theKICK FA tournament. The eventraises money for FA researchin honor of Matt and his sister,Alexandra, 18.“I want to help find a cure forFA and have hope for Alex andme to live longer, successfullives,” says Matt. “We willwork hard to raise moneyand continue awareness everypossible year we can.”Brave HeartsHoot ‘N’ HollerAttendees and volunteers kicked up theirheels and raised $162,000 at the 2012 BraveHearts Hoot ‘n’ Holler held in November. TheKendall and Taylor Atkinson Foundation andthe Atkinson and Nash families organize thisannual event. Molly Nash, 18, shared herinsight about living with FA and encouragedpeople to help fund research for a cure. “I havemany dreams that I’d like to accomplish,” Mollysaid. “All of these things are not out of myreach. I just need time.”Alan D’Andrea, MD, Dana-Farber CancerInstitute, Boston, and long-time FA researcher,was an inspiring volunteer guest speaker. “Thespirit of this meeting tonight just gives me agreat feeling about what I do,” he said.Guests bid on silentauction items,participated in a “VirtualCow Plop,” and boughtnumbered wine corkscorresponding to abottle on the “Wallof Wine.” This footstompingeventcertainly put the “fun”in fundraising!Alan D’Andrea, MDaddresses Hoot ‘n’ HollerattendeesTriathlon Runners raise $46,000Steve and Jen Klimkiewicz raised $46,000 in honor oftheir son, Wyatt, with the help of a group of otherracers at the 2012 Sandman Triathlon in VirginiaBeach, Va. It was the largest fundraising total sincethey started racing for Wyatt, 8, about five years ago.“We have a great support system with our friends andfamily,” Jen said of this year’s fundraising.The runners had sponsors from as far away asPennsylvania and Delaware, including friends whosechildren set up benefit lemonade stands.“This is an awesome cause and an awesome event foran awesome little kid,” said one of the racers whohelped raise funds. “We set a big high goal from lastyear and broke that.”24 Family Newsletter #53

Derek Persson, akaBatmanCasual for a CauseTeachers and staff at MidwayElementary School, Church Road,Va., raised money for FA research bywearing jeans. Midway Elementarystarted a “Casual for a Cause”fundraiser late last year, allowingteachers and staff to wear jeans onFridays if they made a donation.Students also donated, bringingthe total donations from students,faculty, andstaff to morethan $3,500.Wearing jeansfor FA research?It’s a win-wincombination!Monster Dash with BatmanRunning a half-marathon is no easy task—much less running in a fullBatman costume. Derek Persson did just that at last fall’s Chicago Monster Dash,and all for a good cause. Attached to the back of his costume, Derek wore asign reading “I run in memory of my daughter Diamond to help raise funds forthe Fanconi Anemia Research Fund.” Diamond died nine years ago, at one anda half years of age, from Fanconi anemia.“I had several people come up and want to take pictures with me,” Derek said.“I also had many people give me support throughout the race after seeing thefundraising sign on my back.”Derek completed the race in just over two hours, finishing 1,004 th out of a total of morethan 2,500 runners. He recently ran the Lexington Bluegrass Half-Marathon, and finds the “I AmAthlete” website a great way to raise funds. He adds, “I have found that my friends and family aremore willing to donate since I am willing to work for it by running a half-marathon.”Team BrAveryCrosses FloridaOrion Marx is often challenged by his fatherin-law,Charlie Scott, to participate in athleticevents around the country. The challenge lastyear was to mountainbike across Florida on 235miles of dirt trails and back roads in the firstCross Florida Individual Time Trial. Their effortalso was to raise funds for FA research as TeambrAvery, named after Orion’s daughter andCharlie’s granddaughter, Avery. Avery surviveda bone marrow transplant two years ago, andis now 9 years old. Orion said, “Although theevents we are participating in are difficult, theyare nothing compared to the challenges facingchildren and adults with FA.” Team brAvery’smiles totaled more than $3,800 for FA research!Fundraising ScrapbookA 5-Spot for EliBirthdays are usually a time to receive gifts, but for Eli Lana, it was achance to give back. For his 8 th birthday, Eli hosted a “5-spot” party, whereguests bring a $5 donation instead of a gift with the total donationssplit between the birthday child and a charity of choice. Eli chose threecharities, including the FA Research Fund, hoping to send them each $500.With the help of an online fundraising page, he doubled that goal, givingeach charity more than $1,000!“He’s a hero every day,” Eli’s mother, Mary Ann says. “He takes onchallenges no kid should have to face and he perseveres.”With Eli’s help, we’re a step closer to making sure no kid has to take onthe challenge of FA.Family Newsletter #53 25

Fund Welcomes New Executive DirectorNews From the FundThe Fanconi AnemiaResearch Fund is delightedto announce that LauraHays, PhD, has beenhired as executive directoreffective May 1. Laurasucceeds Beverly Mayhewwho resigned in January.Laura has an extensivescientific background andhas worked in Fanconianemia research for the past 10 years. She received herbachelor of science from the University of Washington,Seattle, in cell and molecular biology, and her PhD inoncological sciences (cancer genetics) from the Universityof Utah, Salt Lake City. After postdoctoral researchat the University of Washington and Oregon Health& Science University (OHSU), Portland, Ore., Laurabecame a faculty member in the OHSU Departmentof Hematology and Medical Oncology in 2007. Shehas been highly active in the FA scientific communityand has attended numerous FARF-sponsored meetingsincluding the past ten Scientific Symposia, three FAsquamous cell carcinoma meetings, the recent smallmolecule meeting, and Meeting for Adults with FA. Inaddition to her scientific background, she has significantexperience in both fundraising and community outreachas a member of the Knight Cancer Institute at OHSU.Laura says “I look forward to meeting all the membersof this wonderful community and hope to apply myscientific, medical, and outreach skills to help fulfill themission of the Fund to both find a cure and providesupport for those living with FA.” Laura can be reached bycalling the Fund or writing her at laura@fanconi.org.Board of Directors: Comings and GoingsAmy Frohnmayer, MAPeter Pless, MDThe Fanconi Anemia Research Fund welcomed AmyFrohnmayer, MA, and Peter Pless, MD, to the board ofdirectors early this year.As a young adult with Fanconi anemia, Amy hasattended numerous FA Family Meetings, the Meetingfor Adults with FA, and several Scientific Symposia.Along with board member Christopher Byrd, she serveson the US Food and Drug Administration’s PatientRepresentative Program. In joining the board, Amy says“I am delighted to participate as a board member, andhope to be as helpful to the FA community as possible inthis capacity.”Peter Pless is an FA parent and practicingdermatologist in Pennsylvania. He and his wife,Janice, have two daughters—Julia, 16, who has FA,and Victoria, 21. Peter has attended several ScientificSymposia, and the Pless family regularly attends theFund’s Family Meetings at Camp Sunshine.The Fund and board of directors bid fond andgrateful farewells in January to two board members,each of whom gave many years of service to the Fund.Ruby Brockett joined the board in 1998 and servedas its secretary/treasurer. Ruby’s business experiencewas a benefit to the board, most recently in her roleon the board’s financial investment committee. BobSacks served faithfully for 13 years. He continues tobe a tireless advocate for FA patients and families. Ourgreat thanks to Ruby and Bob for their efforts andcommitment to the Fund’s mission.26 Family Newsletter #53

Your FA Research Dollars at Work in 2012During 2012, the Fanconi Anemia Research Fund awarded$1,572,608 in research grants to the following projects:Investigator: David Wong, DMD, DMS, UCLA Schoolof Medicine, Los Angeles; Abu Nazmul-Hassain, DDS,PhDTitle: Salivary Biomarkers for Oral Cancer Detection in FA;Amount: $193,588Investigator: Madeleine Carreau, PhD, Laval University,Quebec, CanadaTitle: Exploring the Role of FANCC in the Development ofCell Death; Amount: $93,644Investigator: Ruud Brakenhoff, PhD, Free University,Amsterdam, NetherlandsTitle: Targeted Treatment of Oral Cancer and Pre-cancer inFA Patients; Amount: $324,000Investigator: Michael Spiotto, MD, PhD, University ofChicago, ChicagoTitle: Non-genotoxic Inhibitors for HPV-induced HNSCC inFA; Amount: $198,910Investigator: Dong Zhang, PhD, University of SouthDakota, Vermillion, S.D.Title: Investigate the Molecular Mechanisms of How FANCJRegulates Centrosome Cycle; Amount: $186,545Investigator: Robert Sclafani, PhD, University ofColorado, DenverTitle: Potential Therapeutic Use of Resveratrol for Head andNeck Carcinogenesis in FA; Amount: $100,000Investigator: Parinda Mehta, MD, Cincinnati Children’sHospital Medical Center, CincinnatiTitle: Serology Biomarker for Immune Response to HPVVaccination & Exposure in FA; Amount: $40,000Investigator: Rachel Katzenellenbogen, MD, SeattleChildren’s Research Institute, University of Washington,SeattleTitle: HPV Infection and Serology in FA Patients; Amount:$69,028Investigator: Hebist Berhane and Joel Greenberger, MD,University of Pittsburgh Medical Center, PittsburghTitle: GS-Nitroxide (JP4-039)/F15 Liposome OralRadioprotective Therapy for FA Patients RequiringChemoradiotherapy for HNSCC; Amount: $33,045Investigator: Farid Boulad, MD, Memorial Sloan-KetteringCancer Center, New YorkTitle: Multicenter Pilot Trial of HSCT Lacking a GenotypeIdentical Donor; Amount: $101,531Investigator: Markus Grompe, MD, Oregon Health &Science University, Portland, Ore.Title: Testing Clinically Relevant Compounds in FA;Amount: $83,817Investigator: Johannes Walter, PhD, Harvard MedicalSchool, Cambridge, Mass.Title: FA and the Repair of DNA Protein Crosslinks;Amount: $148,500News From the FundConsensus Conference Held to Develop New Guidelines BookFifty physicians, researchers, and representatives from theinternational Fanconi anemia community gathered for a day-anda-halfmeeting near Washington, D.C. in April to discuss updatesand additions to a new edition of the Fanconi Anemia ResearchFund’s handbook, Fanconi Anemia: Guidelines for Diagnosis andManagement. The busy agenda invited lively debate on presentationsbased on current and proposed new chapter topics. Eva Guinan, MD, Dana-Farber Cancer Institute, Boston,and member of the Fund’s Scientific Advisory Board, facilitated the conference and organized advance webbasedmeetings for topic-specific committee groups. We are grateful for Dr. Guinan’s hard work.The book provides critical and potentially life-saving information for patients, families, and physicians. Thecurrent third edition of Fanconi Anemia: Guidelines for Diagnosis and Management is available free of charge inEnglish or Spanish as a book or on CD from the Fund. It can also be downloaded on the Fund’s website. Lookfor the new fourth edition in English by early 2014; a Spanish edition will follow.Family Newsletter #53 27

1801 Willamette St, Suite 200Eugene, Oregon 97401RETURN SERVICE REQUESTEDMission: To find effective treatments and a cure for Fanconi anemia and toprovide education and support services to affected families worldwide.Use of LogoA reminder to our families with FA: Pleaseuse our logo or letterhead only after youhave consulted staff at the Fanconi AnemiaResearch Fund and received approval. Thisstep is necessary to be sure our messages areaccurate and consistent and it helps avoid legalcomplications. We are happy to collaborate onfundraisers and mailings.Editors’ Note and DisclaimerStatements and opinions expressed in thisnewsletter are those of the authors and notnecessarily those of the editors or the FanconiAnemia Research Fund. Information providedin this newsletter about medications, treatmentsor products should not be construed as medicalinstruction or scientific endorsement. Alwaysconsult your physician before taking any actionbased on this information.HOW YOU CAN HELPStaffLaura Hays, PhD, Executive DirectorTeresa Kennedy, MA, Family SupportServices DirectorEvan Burns, Project CoordinatorKristi Keller, Bookkeeper andAdministrative AssistantKim Larsen, Conference andPublications CoordinatorNewsletter EditorsLynn Frohnmayer, MSWDavid Frohnmayer, JDKim LarsenEvan BurnsAnnette WaxbergJoyce Owen, PhDDonations Online: You can donate via the heart button on the Fund’swebsite (www.fanconi.org) or throughwww.networkforgood.org or www.paypal.comDonations by Phone: Call us at 541-687-4658 or toll free at888-FANCONI (888-326-2664) (USA only)Donations by Mail: 1801 Willamette St., Suite 200, Eugene, OR 97401Please go to www.fanconi.org to learn about other ways to donate.1801 Willamette St., Suite 200, Eugene, OR 97401phone: 541-687-4658 • 888-FANCONI (888-326-2664) (USA only)fax: 541-687-0548 • email: info@fanconi.org • web: www.fanconi.orgBoard of DirectorsBarry Rubenstein, JD, PresidentLynn Frohnmayer, MSW, VicePresidentChristopher Byrd, Esq.David Fiaschetti, DDSAmy Frohnmayer, MARichard Gelinas, PhDBrian HorriganBrian Matthews, PhDKevin McQueenMark PearlPeter Pless, MDKevin RogersAnnette WaxbergDavid Frohnmayer, JD, Board AdvisorJoyce Owen, PhD, Director EmeritusScientific Advisory BoardGrover Bagby, Jr., MD, ChairJoseph Califano, MDMarc Coltrera, MDRichard Gelinas, PhDEva Guinan, MDChristopher Mathew, PhDStephen Meyn, MD, PhDRaymond Monnat, Jr., MDElaine Ostrander, PhDBhuvanesh Singh, MDErich Sturgis, MD, MPHJakub Tolar, MD, PhDWilliam N. William, Jr., MDLayout and Design: www.KerryLutzDesign.com