FA Family Newsletter - Fanconi Anemia Research Fund

Early Gynecological Care is Essentialfor Girls with FAGiven the special healthrisks associated withFanconi anemia, parentsneed to introduce their girlswith FA to the need forgynecologic care early. Thefirst appointment should beat age 16 or at the onset ofmenstruation.Rahel Ghebre, MD,University of Minnesota,stated that establishing trust with a gynecologist is ofparamount importance and should be the main purposeof the first visit.The gynecologist needs to be aware of FA-associatedgynecological complications or be willing to learn.Patients should be prepared to discuss potentiallysensitive issues such as sexual activity, contraception andrisk for sexually-transmitted diseases.The physical exam should include a careful evaluationof the vulva, vagina and cervix. Annual screening shouldEarly Results Reported from Alternate Donor, MulticenterTransplant Study Using Radiation-Free ApproachSteve Margossian, MD,PhD, Dana-Farber CancerInstitute, reported on afive-center transplant studyusing alternate donors andbusulfan instead of radiationin the conditioning protocol.Participating centers areMemorial Sloan-KetteringCancer Research Center,Children’s Hospital Boston,Children’s Hospital of Wisconsin, Cincinnati Children’sHospital Medical Center and the Fred HutchinsonCancer Research Center. Fourteen patients have enrolledin this study, ranging in age from 5 to 27, with a medianage of 8. One of the concerns of the study was thatinclude a Pap test and vulvar and vaginal inspection forlesions. Colposcopy is useful to magnify this area, andshould be followed by biopsy if suspicious lesions areseen. Lesions of the vulva or vagina should be treatedaggressively with surgery, since FA patients may respondpoorly to standard radiation and chemotherapy. Otherpossible therapies include laser surgery of lesions of thevulva or vagina and topical medicine such as Aldara(imiquimod) or 5-fluorouracil for pre-cancerous lesions.At each annual visit, patients should be tested forsexually-transmitted infections (including gonorrheaand chlamydia) until age 25, a standard of the USCenters for Disease Control and Prevention. Dr. Ghebrerecommended use of condoms to prevent sexuallytransmittedinfections. Contraception should be usedwhen pregnancy is not desired.The human papillomavirus (HPV) causes cervicalcancer and genital warts. It has also been implicated invulvar, vaginal and anal cancer. FA patients should bevaccinated against HPV as early as age 9.removing radiation would lead to poor engraftment, butso far all 14 patients have engrafted. Eleven patients arealive and disease-free at one to 24 months post-transplant.Deaths were attributed to infection, pulmonaryhypertension and multi-organ failure.One of the concerns of the studywas that removing radiation wouldlead to poor engraftment, but sofar all 14 patients have engrafted.Dr. Margossian stated that early results in engraftmentand survival were encouraging. Longer follow-up isneeded to assess the impact of this protocol on chronicgraft-versus-host disease and secondary malignancies.Science News From the Family MeetingFamily Newsletter #50 3

Understanding the Genetics of FA:Carriers, Complementation Groups and Cancer RiskScience News From the Family MeetingCertified genetics counselor Heather Zierhut, MS,University of Minnesota Medical Center, gave attendeesat Camp Sunshine a primer on the genetics of Fanconianemia. Approximately one in 181 individuals is acarrier of FA. In the Ashkenazi Jewish population, carrierfrequency is one in 90.To know if relatives of an FA patient are carriers, onemust know the FA patient’s specific disease mutations.If one mutation has been passed on to a relative, thatindividual is a carrier of FA. When two carriers of diseasemutations in the same gene have children, there is a onein four chance that a child will have FA, a two in fourchance that children will be carriers, and a one in fourchance that the child will not have FA nor be a carrier.Fifteen FA genes have been discovered, andpatients with defects in the same gene are in the same“complementation group.” Most complementationgroups are not associated with an elevated risk of cancer incarriers. However, studies show an elevated risk of cancerin carriers from five different complementation groups.The FANCD1/BRCA2 gene mutations confer a 45%risk of breast cancer to carriers by age 70 and up to an80% risk of breast cancer during one’s lifetime. Ovariancancer is also a major concern for women carriers. Malecarriers in this complementation group are at increasedrisk of breast and prostate cancer. Two complementationgroups, FANCN and FANCJ, typically double a carrier’sbreast cancer risk. One study showed that FANCCalso doubles the risk of breast cancer for FA carriers.A newly discovered FA gene, FANCO/RAD51C, isalso associated with ovarian cancer in the generalpopulation. The specific gene mutations that a personcarries can influence the specific cancer risks. Carriersare encouraged to discuss these risks with a geneticcounselor and/or their health care providers.Dietitian Advises to “Eat the Rainbow!”Carol Ceresa, RegisteredDietitian, Veteran’sAdministration MedicalCenter, San Francisco,spoke to Camp Sunshineattendees about theimportance of goodnutrition in maintainingoptimal health and helpingto prevent cancer. Allthree of her sisters hadFanconi anemia, which inspired her early interest in theprotective effects of nutrient-rich foods.Ceresa highly recommends the book What Coloris your Diet? by David Heber, MD, PhD, Directorof Human Nutrition, UCLA. Choosing fruits andvegetables covering a wide range of bright colorspromotes good health. She recommended eating twocups of fruit and two cups of vegetables daily and leavingthe skins on whenever possible.Ceresa believes that certain foods may protect againstcancer and cited a recent study by Tong Chen, MD,PhD, Ohio State University, which suggests that freezedriedstrawberries might play a role in preventingesophageal cancer. Other foods thought to have anticancerproperties include turmeric (which contains theanti-inflammatory curcumin), mushrooms (especiallyshiitake), walnuts and avocados. Ceresa recommendedthe book Healing Spices by Bharat B. Aggarwal, PhD,University of Texas, M.D. Anderson Cancer Center,which details healing properties of foods and spices.Butter should be avoided in favor of monounsaturatedfats such as olive oil, avocado oil, peanut oil and walnutoil. One should avoid foods rich in fats, such as pizza,cheese, hotdogs, sausage, bacon, ribs and fried food.Avoid foods high in sugar (sodas, fruit drinks, sweet teas,candy, desserts) and choose whole grains such as brownrice over white rice. Eat fish twice a week (especially oilrichfish such as salmon, sardines and mackerel). And,Ceresa concluded, “don’t forget to ‘eat the rainbow!’”4 Family Newsletter #50

Plans Under Way to Study FA Parental IssuesRelated to PGDThis year marks the 10-year anniversary of the successfuluse of pre-implantation genetic diagnosis (PGD) withhuman leukocyte antigens typing for Fanconi anemia.Heather Zierhut, MS, a certified genetics counselor, notesthat much has changed since this technology began. Shewrote a grant to study the ethical, legal, and psychosocialissues that have surrounded this subject. Through anelectronic survey, she and her collaborator will ask allparents of children with FA, not just those who haveundergone PGD, about their decision-making, opinionsand experiences with the use of this technology. Researcherswill invite FA groups in Canada, the United Kingdom andAustralia to participate. The survey will be emailed to FAparents shortly. The study results will be presented at theBrocher Foundation Symposium in Geneva, Switzerland,in November.Managing Head and Neck Cancer in FA PatientsDavid Kutler, MD, WeillCornell Medical College,gave a comprehensiveoverview of head and necksquamous cell carcinoma(HNSCC) in the FApopulation. While thiscancer is relatively rare in thegeneral population, 21% ofFA patients will experienceHNSCC by age 40 at amedian age of 31. In the non-FA population, smokingand/or drinking causes HNSCC. FA patients should notdrink or smoke and must avoid second-hand smoke.Sixty-five percent of FA HNSCCs occur in the oralcavity. They appear as ulcers or masses in the mouththat do not heal or go away. The human papillomavirus(HPV) has been implicated in certain HNSCCS in thegeneral population and in 83% of FA tumors, accordingThree take-aways from the presentation:• Patients should not drink or smoke and mustavoid second-hand smoke.• Dr. Kutler strongly recommends that FApatients, male and female, receive the HPVvaccine.• Surveillance should begin around the age of9 and should be repeated every six monthsand more frequently if cancer is diagnosed.to one study. Dr. Kutler strongly recommends that FApatients, male and female, receive the HPV vaccine. Thisvaccine protects against HPV subtypes 16, 18, 7 and 11;HPV16 causes 90-95% of HPV-related cancers, so thisvaccine might protect against many FA malignancies.Treatment of HNSCCs can cause tremendousmorbidity and negatively affect quality of life. Smalltumors can be surgically removed; surgical removal oflarge tumors can be devastating. Doctors sometimes userobotic surgery to remove head and neck cancer, whichenables surgical removal through the mouth, therebycausing less morbidity.Dr. Kutler reported on 12 FA patients who underwentradiation therapy at his center. The average dose ofradiation was 5,278 rads. Eight of 12 patients died, fourduring the course of radiation. Patients experienced highgrademucositis, inability to swallow, low blood counts,esophageal stenosis and wound breakdown. Radiationtherapy should be done only for more advanced tumorsand by surgeons experienced in FA. Chemotherapy suchas cisplatin should be avoided but Erbitux is a possibleoption for FA patients.Early detection is crucial. Head and neck surgeons(otolaryngologists) for adults should conduct surveillanceexaminations, because pediatric ENTs do not commonlysee or diagnosis head and neck cancer.The youngest FA patient diagnosed with HNSCCwas 9. Surveillance should begin around that age and berepeated every six months and more frequently if canceris diagnosed.Science News From the Family MeetingFamily Newsletter #50 5

Bone Marrow Clonal Abnormalities:Laboratories Agree on Major FindingsScience News From the Family MeetingBetsy Hirsch, PhD, University of Minnesota MedicalSchool, reviewed findings from three major Fanconianemia research centers concerning the significance ofcertain abnormal clones found in the bone marrow of FApatients. These three centers (University of Minnesota,University of Cincinnati and Charité Hospital, Berlin)have reached consensus on the following:• The 3q gain (a gain of the long arm of chromosome3) is the most frequent recurring clonal abnormalityin FA. This abnormality is rarely seen in pediatricpatients who do not have FA.• The 3q gain is not transient, but persists in thebone marrow.• Clones with a 3q gain frequently expand over time,often evolve to include monosomy 7, and lead tomyelodysplastic syndrome and/or acute myelogenousleukemia (MDS/AML) in the majority of cases. In aGerman study of 18 FA patients with a 3q gain, 90%evolved to MDS/AML.Fertility and Fertility Preservation inMales and Females with FARahel Ghebre, MD, University of Minnesota, believesthat fertility and its preservation are subjects that meritdiscussion well before patients undergo a medicalprocedure that usually results in loss of fertility, suchas transplant. A survey of cancer survivors showed thatmany suffered unresolved grief and depression over theirinfertility and were resentful that fertility preservationoptions were never discussed. Physicians and familyshould explore the patient’s interest and potential optionsin fertility preservation.Fertility is higher in women with Fanconi anemia thanin men. A 1991 study of 110 FA females age 16 or olderreported 26 pregnancies between the ages of 18 and 25,with 18 surviving children. A study last year of 300 FApatients transplanted at 15 transplant centers revealedthat 10 women had 14 children post-transplant.Women with FA have fewer eggs, fewer follicles, andexperience premature ovarian failure. Hormonal imbalancescaused by androgens or chemotherapy reduce fertility due• The 3q gain can remain as a sole abnormality for twoor more years without evidence of MDS or AML.Dr. Hirsch provided a lucid explanation of abnormalclones and their significance. A “clone” refers to a groupof cells that have the same abnormality. These clones arenot present at birth but are acquired over time, and theysignify an abnormal process in the bone marrow.The incidence of abnormal clones increases with age.FA patients over age 20 have a 70% chance of having anabnormal clone compared to 24% of those under age 10.In individuals with FA, the chromosome abnormalitiesfound in clones are mostly “unbalanced” and result in again or loss of a portion of a chromosome.The 3q gain can be difficult to recognize in standardchromosome studies that do not use techniques such asFISH. Chromosome reports that have the term “add”or “mar” next to a chromosome should be carefullyreviewed to see if a hidden piece of 3q is involved.to loss of ovarian function. Females are most vulnerable toradiation damage of the uterus before puberty.The most successful method of preserving fertilitybefore transplantation is embryo cryopreservation. Oneneeds a sperm donor, an obstacle for young patients orthose without a committed relationship. Survival perthawed embryo ranges from 35% to 90%. For those whodo not have a partner, egg cryopreservation can be donein certain centers with expertise. Pregnancy rates fromthis method are around 20%. Investigational methodsinclude freezing of ovarian tissue.Fertility preservation in males with FA is lesspromising. Some FA males have fathered children, butthis is rare. The cause of infertility is usually low spermcount, but also includes anatomic problems and primaryor secondary hormonal insufficiency.Options for preserving fertility in males include spermcryopreservation and hormonal therapies to protecttesticular tissue during chemotherapy or radiation therapy.6 Family Newsletter #50

Psychological/Social Issues Affect FamiliesDuring TransplantationJulia Kearney, MD,Memorial Sloan-KetteringCancer Center (MSKCC),New York, remindedfamilies facing a stem celltransplant (SCT) that the“family is the patient” andto remember that “you arenot crazy, what you aregoing through is crazy!”She gave a comprehensivepresentation on social, educational and psychologicalconsiderations before, during and after SCT.Prior to SCT, Fanconi anemia families and patientsoften seem more distressed than non-FA families, soMSKCC conducted a study to investigate psychiatricissues in families with FA. Fear of future cancers,congenital malformations, neurologic issues, multipleaffected children, effects of androgen use and infertilityissues can contribute to psychological issues and increasea family’s stress level.Goals of a pre-transplant psychiatric consultation are toaddress current problems, identify medical stressors anddevelop a symptom management plan. Families shouldidentify personal and professional sources of support.Children need preparation for what lies ahead. Honest,age-appropriate discussion with parents and helpingprofessionals, books, role-playing medical procedures,and games that help children understand medical issuescan be helpful.At MSKCC, a multidisciplinary psychosocial teamhelps with issues as they arise throughout the transplant.It’s useful to create a routine by posting goals for eachday. Psychiatric symptoms such as depression and anxietycause suffering and should be treated.Dr. Kearney identified the challenges that awaitfamilies post-transplant. These include coping withan extremely complex medication schedule, caregiverburnout, and emotional/behavioral issues. Maintainingcontact with peers during transplant (through Skype,for example) can help with re-entry to school and peercontact post-transplant. FA survivors and their familiesneed to understand the importance of adhering tomedical advice and follow-up screening, and to avoidbehaviors that could risk future health.Making a Personal Connection to FA ResearchSeveral researchers attended the FA Family Meeting atCamp Sunshine to gather tissue or saliva samples to helpfurther their Fanconi anemia research. Eunike Velleuer,MD, Heinrich Heine University, Children’s Hospital,Düsseldorf, Germany, took oral brush samples from FApatients as a means of detecting early-stage head andneck cancer. Flavia Teles, DDS, MS, DMSc, The ForsythInstitute, Cambridge, took saliva samples for her studyon microbial markers of oral cancer; and Melinda ButschKovacic, MPH, PhD, Cincinnati Children’s HospitalMedical Center, Cincinnati, collected saliva samples forher work on human papilloma virus (HPV) in peoplewith FA.In-depth information about families affected by FAwas collected by the research team of Blanche Alter,MD, and Lisa Leathwood, RN, from the NationalCancer Institute in Rockville, Md. Dr. Alter andLeathwood took advantage of the high number of newfamilies at Camp this year (14!) to encourage enrollmentin the Inherited Bone Marrow Failure SyndromesCohort Study.We know from past meeting evaluations that familiesappreciate the presence of researchers at Camp andclearly understand that their participation in the projectscan significantly contribute to the body of knowledgeabout FA. Likewise, the researchers always expressgratitude for the opportunity to meet directly withfamilies and acquire such precious samples. Thanks toboth the families and researchers for their efforts to moveFA research forward!Science News From the Family MeetingFamily Newsletter #50 7

DNA Testing for FA Before PregnancyScience News From the Family MeetingCertified geneticscounselor Heather Zierhut,MS, gave Camp Sunshineattendees an overview ofpreimplantation geneticdiagnosis (PGD). PGDoffers families the option oftesting for Fanconi anemiaand for human leukocyteantigens status in an earlyembryo before implantation.Readers can consult the October 2010 FA FamilyNewsletter for detailed information on the steps involved inthis process.The Reproductive Genetics Institute of Chicago,Illinois, has helped 17 families at risk for FA to try toexpand their families. These families have gone through51 PGD cycles (average is three per family), resultingin the births of six healthy children. The chance thatany one PGD attempt will result in the birth of a childis 12%. PGD is expensive, averaging approximately$20,000 per cycle. Most insurance companies will notcover PGD.Zierhut discussed the physical and emotionalimplications of undergoing PGD. Interviews with14 women who had undergone PGD elicited bothpositive and negative emotions: women felt in control,empowered and hopeful, but also experienced anxietywhile anticipating results, and extreme distress when acycle failed. It was suggested that couples consider inadvance what they will do with fertilized eggs that arenot needed when the process ends. Zierhut cautionedthat PGD can negatively affect future pregnancies and,on rare occasion, be life-threatening to the mother.Excellent Transplant Outcomes Continue atCharité Hospital, BerlinOver more than a decade,Wolfram Ebell, MD,Charité Children’s Hospital,Berlin, has transplanted27 Fanconi anemiapatients with protocolsusing oral busulfan in acumulative dose of 2 mg/kg instead of radiation inthe conditioning regimen.None of these patientshas experienced organ toxicity clearly attributed tothe busulfan. Dr. Ebell stated that he uses half of thebusulfan dosage currently given in a multi-center, USbasedstudy, which could explain the lack of toxicity.Alternate donor transplants continue to improve atCharité Children’s Hospital (see FA Family Newsletter#49 for information on recent protocols and outcomesat this center). All nine patients with alternate donorson the present protocol, called GEFA03, survive, withonly one experiencing grade 1 graft-versus-host disease.One patient on GEFA03 relapsed with his originalclonal abnormality. This patient was given a mild dose offludarabine, Cytoxan and ARA-C, and a stem cell boostfrom his original donor, and is now disease-free.At his center, Dr. Ebell finds nosurvival difference betweenpatients with matched siblingdonors and those with alternatedonors.Dr. Ebell noted that a large number of FA patients,often with androgen support, do not undergotransplant. This group still survives longer thanpatients who have needed to go to transplant. Withimprovements in transplant outcomes, this couldchange. At his center, Dr. Ebell finds no survivaldifference between patients with matched sibling donorsand those with alternate donors.8 Family Newsletter #50

Minnesota Reports on Transplant OutcomesThe University ofMinnesota AmplatzChildren’s Hospital hastransplanted more than 195Fanconi anemia patientssince 1982, using a seriesof protocols to improvetransplant outcomes.Margaret MacMillan,MD, reported on 40patients with alternatedonors enrolled in the current trial, which has beenopen since 2006. This protocol includes 300 rads oftotal body irradiation, thymic shielding to hastenimmune recovery, Cytoxan, fludarabine and ATGfollowed by either T-cell depleted bone marrow orumbilical cord blood. Survival for the entire groupis 87%; all 14 patients under the age of 10 survive(median follow-up of 32 months). Dr. MacMillan statedthat although the data suggest that children under 10have a better chance of survival than older patients,age itself is not a criterion for coming to transplant.Transfusion history is also associated with survival.All 25 patients under the age of 18 with matched siblingdonors and a chemotherapy only (no irradiation) protocolare alive and well, with no graft-versus-host disease.All 25 patients under the age of 18with matched sibling donors and achemotherapy only (no irradiation)protocol are alive and well, with nograft-versus-host disease.The University of Minnesota also transplanted eighthigh-risk patients using a busulfan-based protocol. Sevenof these patients had leukemia. Patients experienced highlevels of toxicity; four patients survive. This protocol isnow open only for patients in the FANCD1/BRCA2complementation group or for patients who cannottolerate TBI.Dr. MacMillan announced plans for a new trial in thenear future. This trial will reduce the length of time apatient is on an immunosuppressant post-transplant in aneffort to reduce the risk for life-threatening infections.Testing Service for FA PatientsScience News From the Family MeetingTesting for PotentiallyBeneficial Cancer TherapyThe Knight Diagnostic Laboratories at Oregon Health& Science University have recently made availablenew molecular tumor tissue tests that are designed toidentify potential treatment targets in cancer and topredict the likelihood of benefit for patients treatedwith the latest therapeutics.This new testing will be 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.orgSend samples to:Christopher Corless, MD, PhD, Medical DirectorOHSU Dept. of Pathology (mailcode L113)3181 SW Sam Jackson Park RoadPortland, OR 97239Phone: 503-494-6834Email: corlessc@ohsu.eduFamily Newsletter #50 9

Thriving Through Transplant: Coping Tips *Family News• Get as much information as possible. Knowledge is power.• Get professional help. Psychiatric symptoms cause suffering.• Seek multidisciplinary support. It takes a village…!• Don’t be afraid to ask your doctor for appropriate medication. Better living through chemistry.• Remember: Everyone is affected. The family is the patient.*These tips were provided by Julia Kearney, MD, Memorial Sloan-Kettering Cancer Center, New York, at the 2011FA Family Meeting.Family Offers Suggestions to OthersFacing Bone Marrow TransplantNearly two years ago, Fanconi anemia patient PeterFiaschetti, now 12, had a bone marrow transplant(BMT). Peter’s mother, Mary Ann, shared some tips onpreparing for BMT at our recent FA Family Meeting.Here is one of the slides from her presentation:EARLY DECISIONSLearn as much as possible about Fanconianemia (FA)• Register with FARF and join thee-group• FARF: handbooks, newletters, etc.• Camp Sunshine• FAmily online journeys (blogs,CaringBridge, etc.)• Regional FA meetingsSeek treatment at a recognized transplantcenter (referrals, insurance approval forout of network provider, etc.)Move near a recognized transplant centerAdopt healthy habitsRaise $$$$ for FARF to fund a cureAppreciate every day—live lifePeter Fiaschetti (right) and BMT donor, brother Joey,are all smiles with the hospital team on transplant day.In preparing for transplant and the possiblecomplications that may arise, Mary Ann remindsfamilies, “Be positive! This is a life-saving experience.”To view Mary Ann’s presentation in its entirety, go towww.fanconi.org/index.php/family_support/annual_family_meeting and click on the “BMT Tips from aPost-Transplant Family” presentation.For more information about the bone marrowtransplant process, consult our Guidelines for Diagnosisand Management, available on the Fund’s website. To findout more about what BMT is like for families, registerwith the Fund and post questions on our secure e-group.10 Family Newsletter #50

Living with Fanconi AnemiaBy Mary GrabherMary (second from the left), attends her first FAFamily Meeting, along with (from left to right) herdaughter Anne-Marie, her sister Anne and hermother Joan.After facing a myriad of “unusual” health problemsthroughout my life, I found out at the age of 51 that Ihave Fanconi anemia. My diagnosis came after a bout ofanal cancer followed by chemotherapy and radiation. Justa few days into the cancer treatment, my bone marrowcrashed with low counts that were off the charts. After astay in intensive care and in isolation, I stabilized enoughto be able to leave the hospital and return home.Did I ever present a puzzle to my hematologist! Heexpected that I might have a slight reaction to the chemoand radiation, but he never expected me to bottom out.After months of very low counts and a bone marrowtest that proved inconclusive, he searched high andlow for a reason, or for a diagnosis, to explain why mybody reacted in such a way to the cancer treatment. Heeventually diagnosed me with Fanconi anemia.All the other doctors said that he was “brilliant” for hiscorrect diagnosis of this rare disease. I believe that’s truebecause no other doctor throughout my entire life everthought to test me for FA. As a child, I was very sick,with low platelets. I had several bone marrow tests, butall the doctors would say was that the low counts werea mystery. Forty-one years later, the mystery was solved.Most of the illnesses I have had can be traced back toFanconi anemia: very low birth weight, poor digestivesystem, no appetite as a child, low blood counts, easybruising, nose bleeds, squamous cell skin cancer twice,oral cancer twice, early menopause, anal cancer, prediabetes(and now diabetes), and elevated liver enzymes.So now I’ve slowly begun my journey to learnabout Fanconi anemia and to put this diagnosis intoperspective. I’ve come to the conclusion that life has beenvery good to me. Despite medical challenges, I’ve lookedat each issue one at a time and dealt with what was onmy plate at that time. I looked at each surgery as a doorthat I had to pass through to reach better health on theother side. I’ve lived with the motto that “this too shallpass.” This has helped me face many health issues. I makeand keep my doctor appointments, but I live life, too.I’ve always been honest with myself and my doctors, andhave made it a point never to be embarrassed to ask mydoctor anything.I have lived a full life with Fanconi anemia. I graduatedhigh school and was a pretty fun teenager. I fell in loveand got married. I graduated from college, taught at aninner city high school for 13 years, adopted a beautifuldaughter and taught at a local university for 10 years. Idid the math once and figured out that through my yearsof teaching I have influenced more than 5,000 youngadults. I have a wonderful support system of family,friends and doctors. My hematologist gently remindsme that I am not FA, rather I am Mary, living with FA.My mother and my sister, Anne, have tirelessly switchedhats from caretaker to nurse’s aide, cook and cheerleaderfor me. I am learning as much about this disease as Ican, and I hope to be able to be a part of many researchprojects. I would love it if something I contribute toresearch could lead to excellent treatment for those whomust make a life with FA.My hematologist gently remindsme that I am not FA, rather I amMary, living with FA.For some reason, I survived the chemo and radiation.I think my stubborn nature could be part of it, butperhaps there is something in me, in my DNA, in myFanconi anemia that could help explain my survival andhelp other patients. I can only hope. At the end of theday, all we can ever do is hope.Family NewsFamily Newsletter #50 11

Campers List One-Word RavesIn the last support session of the 2011 Fanconi AnemiaFamily Meeting, led by Nancy Cincotta, MSW, MPhil,of Camp Sunshine, participants were asked to say oneword to describe their experience at Camp. Following aresome responses:Family NewsJulia Flynn, who has FA, receives a warm welcome tothe Family Meeting.Looking for the Perfect Fanconi Anemia Sundae?By Stephanie Griggs, FA Parent and First-time FA Family Meeting ParticipantCamp Sunshine was….geez, how can I possibly describe Camp Sunshinein words? Camp Sunshine was exactly what our family needed. It wasthe perfect Fanconi anemia sundae. A scoop of rest and relaxation, a bitof excitement and entertainment, and a whole lot of fun and friends, allcovered with oooey gooey gobs of FA information and support, sprinkledwith nuttiness and topped off with a cherry of HOPE.12 Family Newsletter #50

A FANTABULOUS Experience for FA FamiliesFamily NewsFifty-nine families from eight countries enjoy the FA Family Meeting, held at Camp Sunshine in Casco, Maine.Fifty-nine families—including 14 first-time families—gathered at Camp Sunshine in Casco, Maine, in June forthe Fund’s 20 th annual FA Family Meeting. Once again,Camp Sunshine proved an ideal setting for busy daysfilled with educational sessions, support groups and funrecreational activities.Forty-eight children and six adults with Fanconianemia attended the meeting along with parents, siblingsand extended family members, for a total attendance of227. Attendees traveled from eight countries: Canada,Denmark, Israel, France, Australia, Germany, the UnitedKingdom and the United States.Highlights from the educational agenda includedupdates from several bone marrow transplantation(BMT) centers, sessions on head and neck cancer,fertility preservation, psychosocial issues related to BMT,and a look at exciting FA research currently under way inlabs around the world. Amy Frohnmayer, an adult withFA and a long-time Camp Sunshine attendee, shared theresults from a study she conducted about adults copingwith FA, and two parent panels recounted their personaljourneys related to BMTs and Preimplantation GeneticDiagnosis (PGD). Thanks to Mary Ann and DavidFiaschetti, Diane and Mark Pearl, and Lynn and DaveFrohnmayer for participating on the BMT panel, and toLorne Shelson and Annette Waxberg, Pedro and MarinaRavelo, and Yavin Atzmon and Sharon Harari for sharingtheir PGD stories.Camp Sunshine proved an idealsetting for busy days filled witheducational sessions, supportgroups and fun recreationalactivities.Scores of caring volunteers, along with dedicated campstaff, made sure that smiles were in abundance, and thatattendees were well satisfied with good food and fondmemories.Family Newsletter #50 13

At Last, Success!By Holly MirendaFamily NewsOur family welcomed Georgia Elizabeth Mirendainto the world at 12:01 a.m. on June 26, 2011, afteronly 16 minutes in the hospital. While her deliverywas expeditious, we had been awaiting Gigi’s arrival forseveral years.We’ve been blessed with many things in our livestogether, including wonderfully happy children, anincredibly supportive and loving family, and exceptionalmedical care. It’s clear now that we were also blessedwith patience. We began our in vitro fertilization/preimplantationgenetic diagnosis (IVF/PGD) journey infall 2008 and ultimately completed nine rounds beforebecoming pregnant in October 2010.When we first learned about the possibility of preselectinga healthy embryo and a human leukocyteantigens (HLA) match through IVF/PGD, we knewimmediately that this would be our path forward forour family and for our daughter Sofia’s health (Sofiahas FA). Even with this absolute conviction, however,our patience, reasoning and emotional strength werethoroughly tested: the seemingly endless hours on theroad for appointments, two lost early pregnancies, andthe many times we arrived at the clinic, hopeful for anembryo transfer—and left brokenhearted.Having two young kids, Sofia and Teddy, at homewhile facing this challenge helped to keep us focused,and, well, busy. It also complicated family discussionsabout health. Looking back, it was Teddy’s anxietyabout Mommy’s health that was perhaps the toughestemotional part of our process. He was obviously tooyoung to grasp the entire situation, but old enoughto notice Mommy’s absences, moods and shots. Weexplained the shots by saying that families sometimesneed a little medicine to help make babies. (A funnyside story was when Teddy told a friend that babies aremade by mommies putting shots in their tummies.) Sofiawas young enough not to notice what was happening,except when Mom was gone before dawn on yet anotherround trip to see the doctors or too tired to read storiesat bedtime.Nothing was easy about the process. Much like thekid’s game Chutes and Ladders, it seemed that every timewe climbed higher, we hit a point where we’d slide down,and sometimes off the game board. Deep down, wetrusted that someday we would be made whole.We’re now witness to the love and joy that patienceand faith has brought to our family. Baby Gigi is notaffected by FA, although she is a carrier like we are. Sheis also an HLA match for Sofia. We collected and storedher cord blood at birth, to be used when Sofia needs atransplant.Much like the kid’s game Chutesand Ladders, it seemed that everytime we climbed higher, we hit apoint where we’d slide down, andsometimes off the game board.Throughout the physical and emotional rollercoaster,we kept faith in Sofia’s ability to remain healthy, as wellas in our amazing team of nurses, doctors and geneticists.We have to take the opportunity to sing the praisesof CNY Fertility and Dr. Mark Hughes at GenesisGenetics. The care, faith and comfort that they extendedto us were as important as the science that helped bringus baby Gigi.Sofia is now 6, beautiful, and has an energy that thrillsus every single day. She and Teddy (8) are completelysmitten with Gigi. Now that Gigi is starting to smile, weknow that the feeling is mutual.14 Family Newsletter #50

The Sum of All Fears: A Single Mom’s JourneyThrough Fanconi AnemiaBy Simone KiezeI’ve learned thatbeing a single parentin the Fanconianemia populationis extremely rare. Ican’t say I was elatedto fall into eitherstatistical category, butthe moment my son,Mekhi, was diagnosed,I knew our path on this Earth would be different.I remember the day my husband left us. Mekhi wasa year old. I was overcome with fear that I didn’t havewhat it takes to raise a man alone in today’s society.I was at the pinnacle of my accounting career at alarge accounting firm with only my family as support.Determined to make it, since failure was not an option, Iquickly adopted the attitude “other single moms did thisbefore me; I can get it done!” Then I lost my job. I feltthat 2-year-old Mekhi understood everything I was goingthrough. I had to pull it together for him, if no one else.While unemployed, I decided to continue my studiesfor the Certified Public Accountant examination. Mekhistayed perched on my hip as I toiled through accountingproblems at night; his job was to keep me awake. Andhe did such a great job! Eventually, I passed the exam,got a job and qualified for insurance. When I was finallyable to take Mekhi for his first check-up in over a year,his platelet count was 25,000. One month later he wasdiagnosed with Fanconi anemia. That was the straw thatbroke this camel’s back. Losing my husband, my joband getting this diagnosis in the span of one year feltlike someone tied my heart to a 10-ton brick and threwit into the ocean as shark bait. I couldn’t even begin toprocess what lessons I could possibly learn from theseexperiences. It just wasn’t fair. There are many things inlife I braced myself for as a single mom: talking aboutsex, love, marriage… but having to tell my child that hehas a preleukemic disorder was definitely not on the topof my list. I was devastated. Having no one to help mewith that discussion added to the frustration.Through all that’s happened I’ve learned that there aresome things that one should not attempt to go throughalone. The independent spirit I once prided myself onhad to be thrown out the window. My thinking had tochange; my attitude needed to change; I needed to be adifferent type of mom to my son to get us both through.The first thing I had to do was admit that I neededhelp. I sought the best therapist I could find. I lateradopted these three basic principles that have helped meimmensely:• Every life has a purpose. Discovering that purposeand going along life’s intended path will alloweverything to align and will take you to the nextlevel. While being a member of the FA family wassomething I never thought would happen to me in amillion years, I’m elated to be involved.• Where I am now is exactly where I should be.Nothing happens by chance or coincidence. Thereare no mistakes on this journey, only opportunitiesto learn. Every person I’ve met along this pathhas been brought into our lives for a reason; everydoctor, every nurse and friend has touched our livesin some way and we’ve learned to appreciate it.Within this past year, we’ve been able to open theeyes of the Caribbean community to FA and theimportance of being a donor. None of this wouldhave happened without Mekhi.• Love. Love. Love. Teaching Mekhi to love and accepteverything around him has become important to me.Just appreciating the simple pleasures of the breezebrushing across our faces, the sound of the ocean andaccepting everything nature has to offer us brings agreat level of peace to our lives.Through all that’s happened I’velearned that there are some thingsthat one should not attempt to gothrough alone.Life is short. Nothing should be taken for granted and,if our destiny is that I should outlive my son, I want toknow that every minute and second of every day spentwith him was meaningful.Family NewsFamily Newsletter #50 15

French Family Support Group Celebrates 20 YearsBy Charles BichetFamily NewsThe French Family Support Group celebrates 20years with a trip to Disneyland Paris.Under a warm spring sun, Disneyland Paris offereda perfect setting for a two-day celebration of theAssociation Française de la Maladie de Fanconi’s (AFMF)20 years in existence.Thirty Fanconi anemia patients and families came fromall over France, Ralf Dietrich and Eunike Velleur camefrom Germany, and a family even came from the UnitedKingdom. A few friends and half a dozen volunteershelped us manage the excitement of the kids. All together,about 100 people attended the celebration. We were quitea spirited party, determined to make the happening oneof hope, friendship and a celebration of life.First, we all gathered for a superb buffet lunch onSaturday which gave everyone the necessary energy forthe festivities. We enjoyed meeting old friends again,getting to know new families and hearing news aboutthose who weren’t able to attend. It was fun to blow outthe candles on our anniversary cake!The afternoon was dedicated to the formal supportgroup session, focusing on practical life matters andfurther FA-related exchanges between the families,including the young FA adults. By early evening, weentered Disneyland Paris theme park and bumped intoone another throughout the evening.On Sunday, our group had breakfast and spent moretime enjoying the theme park. It was quite a memorableevent for all, especially the children. Thanks to ourvarious sponsors, including Disneyland Paris, as wellas to those families who contributed to organizing andfinancing this wonderful event!What’s next for AFMF?The group will continue toprovide support for adults withFanconi anemia and FA familymembers, develop relationshipswith other FA groups, and focuson funding FA research in thenear future.In Loving Memory“For some moments in life there are no words.”John Hanna..................... 5/31/72 – 3/26/11Edwin Ferreira................ 2/6/84 - 5/18/11Justin Barbier.................. 4/30/85 – 7/17/11Katrina Aggabao............. 4/29/05 – 8/30/1116 Family Newsletter #50

Kids from FA Families Pitch in to Raise MoneyTo Support ResearchChildren from families affected by Fanconi anemiaare proving that fundraising isn’t just for adults. At theFA Family Meeting in June, Kevin McQueen, FA parentand Fanconi Anemia Research Fund board member, andBev Mayhew, the Fund’s Executive Director, handed outawards to “Kids Helping Kids,” in recognition of somehighly committed junior fundraisers. Here are somehighlights of the work kids did to help raise funds forFA research:• Benjamin Morrison held his second Chess Tournamentin honor of FA Day.• Spencer Boggs sold hand cut-outs at school and pitchedin to help make his family’s Fun Day for FA a big success.• Devin Fales participated in Kicks for FA, a karateexhibition.• Austin Jaros-Riley helped his family make their firstCosmic Bowl-a-thon an event to remember.• Matt and Alexandra Pearl spearheaded their secondKick FA kickball tournament and, along with SeanMcQueen, participated in the Climb for a Cure event.• Peter Fiaschetti held a penny drive while recoveringfrom his bone marrow transplant last year.Please join the Fund in thanking these inspiringfundraisers.FundraisingPersonal Tragedy Leads to Large Donationothers afflicted with this disease, as well as their families.Hopefully, this contribution will provide monies neededfor research, and provide doctors and scientists withsupport that will allow them to continue to work and todiscover a cure for this illness that has taken far too manyprecious lives already.” He noted that at the time of hisbrother’s death in 1962, his family was told by MaxStrumia, MD, at Bryn Mawr Hospital in Philadelphia,that there were only 47 living FA patients in the worldand that Michael Alan, at age 9, was the oldest survivor.Melody Ann and Michael Alan Miller, two siblingswho passed away decades ago from Fanconianemia.Mrs. Gloria J. Miller of Bethlehem, Pa., who lost twochildren to Fanconi anemia many years ago, has turnedher personal tragedy into hope for many others througha very generous gift of $250,000 to the Fanconi AnemiaResearch Fund. Mrs. Miller made this extraordinarycontribution to support research as a tribute to her5-year-old daughter, Melody Ann, whom she lost to FAin 1951, and to her 9-year-old son, Michael Alan, whodied of FA in 1962.According to her son, Jody Miller, “My mother’sfondest and deepest desire is that this gift will help“My mother’s fondest and deepest desireis that this gift will help others afflictedwith this disease, as well as their families.Hopefully, this contribution will providemonies needed for research, and providedoctors and scientists with support thatwill allow them to continue to work and todiscover a cure for this illness that has takenfar too many precious lives already.”“What an amazing, unexpected gift this is,” says LynnFrohnmayer, Fund co-founder and board member, “andhow tragic the familiar circumstances leading to thisincredible generosity. We are humbled and heartened byMrs. Miller’s spectacular philanthropy.”Family Newsletter #50 17

Second Annual InternationalFanconi Anemia Day a Big SuccessFundraisingMore than 20 families affected by Fanconi anemia helpedraise awareness and funds for FA research for The SecondAnnual International Fanconi Anemia Day, observed May 1.Events included a karate exhibition, a “cosmic” bowl-a-thon,a Facebook challenge, an online auction, yard sales, a 5k run/walk, and fundraising letter campaigns. In all, families raisedmore than $75,000 for FA research and family support.International Fanconi Anemia Day was the brainchildof the FA community’s own Peg Padden. Padden, an FAFamily Fundraising Efforts Remain Strongparent, member of the Fund’s board of directors, and FAfundraiser, has some exciting new plans. Peg announced thatshe will be devoting the next year to raising money for theFund. We are delighted with her commitment to the causeand grateful for the gift of her time.Many thanks to these dedicated and imaginative familiesfor all they did to spread the word and raise money forsuch an important cause. It’s not too early to start thinkingabout next year!From Jan. 1, 2011 through Sept. 15, 2011, Fanconi anemia families raised $1,200,571 for the Fanconi AnemiaResearch Fund. Thank you for your fundraising efforts so far this year. Remember that the Fund’s staff is available toassist you with your holiday fundraising.$250,000 and upGloria Miller$150,000 - $199,999Dave and Lynn Frohnmayer$100,000 - $149,999Kendall & Taylor Atkinson Foundation withthe Nash and Atkinson FamiliesGlen Shearer and Peg Padden$20,000 - $49,999Kerrie BrannockMike and Tracy BrannockRobert and Barbara CaponeJohn and Kim ConnellyEd and Janice DuffyFanconi Hope Charitable TrustKevin and Lorraine McQueenTodd and Kristin Levine$10,000 - $19,999Chris and Susan CollinsMark De Groot and Hanneke TakkenbergCarole FelmyMichael GlasKaps for KendallMatthew and Evelyn KeyesDan and Nikki McCarthy$5,000 - $9,999Jeffrey and Donna BoggsChris and Jennifer BranovDonald and Danielle BurkinRoger and Eleanor HermanBrian Horrigan and Amy LevineCharles and Katy HullSteve and Jennifer Klimkiewicz/Wyatt’sWarriorsJeremy and Stacey MeffordMark and Diane PearlPeter and Janice PlessGeorge and Kathryn Reardon$1,000 - $4,999Jimmy and Jenny ArmentroutAndrew and Vicki AthensMark and Linda BaumillerIsrael and Mary Jo BecerraRandy and Nancy BloxomRichard and Tena BosonPatti CarterDavid and Kim ChewDarrel and Kalani DeHaanBrian and Jennifer DormanLisa DoyleEzat and Laila FaizyarDavid and Mary Ann FiaschettiBen and Stephanie GriggsAlan and Rachel GrossmanDavid and Paula GuidaraOwen Hall and Margaret KastingErik Kjos-Hanssen and Frislid TuridChristopher and Dana LambMark and Angela LammTanner and Jessica LindsayGregory and Lynnette LowrimoreDeane Marchbein and Stuart CohenTue Marker and Kirstine la CourRasmussenOrion and Lisa MarxSheila MeehanJim and Holly MirendaTyler Morrison and Rachel AltmannJack and Lisa NashRobert and Mary NoriRon and Fredi NorrisJoshua and Crystal PepperPaul and Rena RiceMark Ritchie and Lisa MingoKevin and Katie Rogers/My Best FriendRick and Lynn SabloskyBob and Andrea SacksBill and Connie SchenoneBruce and Loreen TimperleyWilliam and Mary UnderrinerMike and Beth VangelUp to $999Randy and Lauren ArmstrongKen and Jeanne AtkinsonGerald BarbierJulie BarbierJohn and Audrey BarrowConrad and Joan BenderJames and Tracy BibyMichael and Diane BradleyRichard BrigaLezlie CheslerTyler and Teresa CliftonBrad and Cynthia CurryDottie DayRichard DayJeremy and Michelle DellaValleJohn DelzellWendy DelzellJames and Carol DillonAntonino and Marie Di MercurioPat and Mary DiMarinoLindsay and Sandra DunnDavid and Kelly DunnockGene and Lynn EddyGinger EggersSharon EllisBilly Jo and Debbie EstepKay EubanksCurt and Crystal FalesEdwin Ferreira and Yalitza NegronNancy FinneganScott FinneganDoreen FlynnBrett and Nanette FosterLiz FunkGary and Melody GanzBrian and Lisa GillottPat and Maria GleasonJosh and Maria GodwinAllen Goldberg and Laurie StronginAndrew and Jennifer GoughJohn and Raquel HannaJeff HoffmanJudy HoffmanShane and Colleen IrvinJeff and Beth JanockJohn and Karilyn KelsonKeith and Krisstina KingKayla LackeyTim and Mary Ann LanaEugene and Renee LemmonSkip Longstaff and Susan Gannon-LongstaffEric and Beth LosekampBill and Jackie LucarellSteve and Alison McClayKevin and Barbara McKeeCatherine McKeonGianna and Lauren MegnaIan and Tricia MitchellDes Murnane and Mai ByrneTony and Lina NahasJack and Tammy NealFred and Nancy NunesLorraine O’ConnorMichael and Katharine OrmondAlbina ParenteJohn and Dianne PloetzMichael and Kay ProctorLynn and Shirley QuiliciPedro and Marina RaveloGail RichardsonLeonard and Jan RileyRichard and Dolores SatterleeThomas and Brenda SeifordBryan and Karen SiebenthalDebby SlaterJeff SlaterTamara StephensLeaAnn StillerGreg and Brandi StuartCharles and Jennifer SumrallPaul and Debra SundsvoldMark and Susan TragerTom and Kathy UnoJoe and Wendy VitirittoMike and Wendy WadeXiaoqing Wang and Ning LiuMarc WeinerSandy WeinerMichael and Kim WilliamsNorman and Michelle WilsonSean and Kristin Young18 Family Newsletter #50

Everything Old is New AgainBy Jeanne AtkinsonSpecial friends of ours,Vicky Stone and ChristineFlaum, came up with theidea to have a jewelry salefeaturing mostly recycled andrenewed pieces. They knewthat women often tire ofwearing the same jewelry orperhaps they no longer wearthat cute blue dress with thematching blue earrings. Sowhy not ask people to donatewhat they no longer wear, polish the pieces and inviteeven more people to a jewelry party featuring jewelrydesigns from today and yesterday at great prices, all tobenefit a great cause?For this event, gently-used jewelry was obtained viae-mail request and networking between friends, coworkersand family. The request included the suggestion thatpeople might have vintage jewelry from a mother orgrandmother that they would like to give to a good cause.One woman sent us two boxes of her mother’s belovedcostume jewelry, saying that she was thrilled to findsomething meaningful to do with it. We offered a drop-offspot or pick-up service for those providing jewelry.People were invited to come and enjoy a glass of winewhile shopping for great jewelry deals. The list of peoplecame from our past fundraising efforts and from Vickyand Christine’s contacts. The sale was held at Christine’shome from 3 p.m. to 8 p.m. on a weekday. In theend, around $3,000 was raised for FA research, and allinvolved voted it a big success!FundraisingSocial Networking Pays Off – FA Families UseOnline Tools to Raise FundsFacebook, Twitter, LinkedIn—thelist of online social networking toolscontinues to expand. Families affectedby Fanconi anemia are harnessingthe power of these tools to increaseawareness of FA and to raise funds.Families have participated in Facebookcontests and launched onlinechallenges to help spread the wordabout our worthy cause.FA parent Mary Nori saw anopportunity to land some muchneededfunds for research andsubmitted the Fanconi AnemiaResearch Fund’s name for the ChaseCommunity Giving Program’s FacebookContest in April. This contest soughtto identify the top nonprofits in theUS based on Facebook user votes.Nori used her online network and theFund’s e-group to spread the word andrecruit voters. The Fund placed in thetop 100 vote-getters in the first round,winning $25,000 from Chase.Michael and Katharine Ormond,parents of 3-year-old Elias (who hasFA), are no strangers to using socialmedia for social good. For the past twoyears, they’ve held an online givingchallenge in honor of InternationalFanconi Anemia Day. According tothe razoo donation site, to date theOrmond’s challenge has raised morethan $7,500.The Internet can be an excellentresource for fundraisers. Whetherusing Facebook to spread the wordabout a contest or simply emailingcontacts about an upcoming event,social networking is an effectiveway to gain some attention for agood cause. Follow the Fund onFacebook at www.facebook.com/fanconianemiaresearchfund.Fanconi Anemia ResearchFund’s Board President,Barry Rubenstein, accepts a$25,000 check from “Chase”the dog. Thanks to strongsocial networking efforts fromour community, the Fundwas a winner in the ChaseCommunity Giving Program’sonline challenge.Family Newsletter #50 19

Family Fundraising ScrapbookWiggle for WyattSmiling trophies are awarded to all participants.What do you get when you mix a group ofpreschoolers, a room full of balloons, andsome great music? A fun-filled fundraiser! KimKenworthy of Schwenksville, Pa., developedthis dance party at her son’s preschool in honorof Wyatt Klimkiewicz, her young relative withFA. Each participating child received one ofthe fabulous trophies pictured above. In all,the event raised more than $4,500. Now that’ssomething to wiggle about!Fighting the FightIt was a big year forthe Capone family.After MichaelCapone, age 12,was diagnosed withFA in July 2010, hismother, Barbara,decided to roll upher sleeves andstart fundraising.In May, the CaponeMichael Capone, age 12family calledtogether friends, family and acquaintancesto “Fight the Fanconi Anemia Fight alongwith Michael’s Army” in Boothwyn, Pa. Theevening featured food, wine, dancing and asilent auction. The Capones raised $26,732for the Fund and are already planning agolf tournament for next year. Fighting thefight and walking the walk, Barb Capone is amother determined to make a difference.Knit Away FAKaps for Kendall is anonprofit organizationfounded in memoryof Kendall Atkinson.Kendall had FA andworried about losingher hair during bonemarrow transplant. For every $25 donatedto the Fund through the Kaps for Kendallwebsite, www.kapsforkendall.com, theorganization sends a handmade hat to aperson undergoing medical treatment thatresults in hair loss. On March 19, Kaps forKendall held Knit Away FA, a first-time eventbringing 48 knitters together to knit 467hats. Knit Away FA raised more than $9,000for the Fund!Leaping for Connor and DaneThe Mefford FamilyThe Mefford family’s International FADay turtle race and silent auction event inCarrollton, Ky. was a hit again this year, withcommunity members donating everythingneeded for the event. Activities for childrenand delicious food added to the fun. Connorand Dane, who have FA, joined sister Baileyand parents Stacey and Jeremy for a successfuland exciting day. The event raised more than$8,000 for the Fund. Apparently, slow andsteady does win the race.20 Family Newsletter #50

Door to Door SuccessJack Timperley, age 12Fun Day for FARecently, the Fund’sstaff received amessage from12-year-old JackTimperley, who hasFA, reporting on hisfundraising efforts:Members of the Boggsfamily held their FunDay for FA on May 21 inCoeburn, Va. Activitiesincluded a 5K run/walk, face painting,a miniature train andcarnival games. Thisevent was held in lovingmemory of NicholasBoggs, and participants received a “TeamNicholas” T-shirt. Nicholas, who had FA, lovedhaving fun and a big crowd of people—whichis exactly what this day was all about. Throughthis event, the Boggs family raised $1,030 forFA research and family support.A Cosmic Bowl-a-thonOn Saturday,May 14, PattiCarter invited theSt. Peters, Mo.,community to“Come Play forFA” at a “cosmic”bowl-a-thon heldin honor of hergrandson, AustinAustin Jaros-Riley, age 15 Jaros-Riley, whohas FA. This firsttimeevent, organized in conjunction withThe Second International FA Day, drew anenthusiastic crowd and raised more than$2,100 to help strike out Fanconi anemia.How FARF Can HelpYou FundraiseMore than 80% of the Fanconi Anemia ResearchFund’s annual budget comes from family fundraisers.The Fund’s staff is here to help make your fundraisingefforts a success. We can:• Provide sample fundraising letters and help youedit/design your letter• Use your photos to personalize your materials• Use your mailing list to send your letter or invitationfrom our office• Provide ideas, information and materials for events• List your event on our website• Send a thank you letter and tax receipt to your donors.We ask that all fundraising events be covered byliability insurance. Insurance for a one-time event isoften available through a family’s homeowner’s insurancepolicy as a relatively inexpensive insurance rider. Pleasecontact the Fund if you need assistance obtaining orpaying for this required insurance.Please ask your donors to write their donation checksto the “Fanconi Anemia Research Fund.” When wereceive a donation, we will generate a letter of thanksfrom the Fund with a tax receipt, and we’ll notify youthat a donation has been made in your name.We appreciate all of your fundraising efforts. You aremaking a difference.Family Fundraising ScrapbookFamily Newsletter #50 21

Fanconi Anemia Research Pioneer RetiresNews From the FundHans Joenje, PhD, apioneer in Fanconi anemiaresearch and former memberof the Fanconi AnemiaResearch Fund’s ScientificAdvisory Board, has retired.Dr. Joenje, the only personever to receive both theFund’s Award of Merit andthe Distinguished ServiceAward, made exceptionallysignificant contributions to the field of FA research,including participating in the discovery of 12 FA genes,which helped to provide the foundation for current FAscience. His research remains integral to the study of FA.Early in Dr. Joenje’s career, he made the groundbreakingdiscovery that the chromosomal breakage in FA dependson atmospheric oxygen. He has continued to work onFA and the genetic toxicology of oxygen ever since. WhenDr. Joenje began studying FA, little was known about therare disorder and none of the genes responsible for FA hadbeen identified. In 1992, Dr. Joenje was instrumental informing a European consortium to clarify the genetic basisof FA. Fifteen FA genes have now been discovered.In addition to his work in the laboratory, the Fundrecognizes Dr. Joenje for his dedicated service to familiesaffected by Fanconi anemia. He has attended the Fund’sannual FA Family Meeting to present information tofamilies about the scientific basis of FA and has workedtirelessly with families to help them determine theirparticular FA gene.Dr. Joenje spoke in March 2011 at a symposiumorganized at the Vrije Universiteit in Amsterdam, TheNetherlands, to honor him for his work in Fanconianemia research. Dave Frohnmayer participated byvideo, and thanked Dr. Joenje on behalf of FARFand FA families worldwide for his innovative work.Although retired and looking forward to spending moretime in his garden and with his beloved dachshund, Dr.Joenje has promised to remain actively involved in theFA community.We thank Dr. Joenje for his tremendous contributionto the field of FA research and wish him well in hisactive retirement.Welcome Dr. William to theFund’s Scientific Advisory BoardWilliam N. William, Jr.,MD, a medical oncologistfrom The University ofTexas MD AndersonCancer Center in Houston,accepted an appointmentin April to serve a threeyearterm on the FanconiAnemia Research Fund’sScientific Advisory Board.Dr. William is an assistantprofessor in the Department of Thoracic/Head andNeck Medical Oncology, Division of Cancer Medicineat MD Anderson, a position he has held since 2006.Dr. William came to the US from Brazil for a postdoctoraland then a clinical fellowship. He received hismedical degree in 2001, graduating from the Faculdadede Medicina da Universidade de São Paulo, Brazil. Dr.William has co-authored dozens of articles related tohead and neck cancer and has won several prestigiousawards, including the American Society of ClinicalOncology Cancer Foundations’ Young InvestigatorAward in 2009.Dr. William joins a group of distinguished researchersand clinicians on the Scientific Advisory Board.Members of this board (listed on the back cover of thisnewsletter) guide the Fund’s research priorities, advocateon behalf of FA at national and international meetings,and provide guidance and support to the staff and boardof the Fund. We welcome Dr. William and are honoredto have him join the FARF team!22 Family Newsletter #50

Researchers and Clinicians to Convene inBarcelona for 23rd Annual Scientific SymposiumScientific SympOSiumOctober 20-23, 2011Princesa Sofia HotelBarcelona, SpainSAVE THE DATE • Watch for a Call for Abstracts in MarchThe Fanconi Anemia Research Fund’s 23 rd annual Scientific Symposium, to be held thismonth in Barcelona, promises to be our “most exciting” symposium, according to Grover23rd ANNUALFanconi Bagby, Anemia MD, Research Fund chair of our Scientific Advisory Board. Dr. Bagby’s excitement is heightened by therapidly evolving body of FA science to be shared by the more than 270 researchers and cliniciansexpected in Spain. Topics of special sessions include gene therapy, induced pluripotent stemcells, the role of the human papillomavirus in squamous cell carcinoma, and novel drug agents.Look for the April 2012 issue of the FA Family Newsletter for a full recap of the symposium.Head and Neck Cancer Experts Will Meet in 2012To Continue Discussion on FASquamous cell carcinoma (SCC), particularly of thehead and neck, poses a significant risk to people withFanconi anemia and remains a top priority for the Fund.The Fund’s third meeting devoted to SCC in FA patientswas held in April 2010. A follow-up meeting, scheduledfor March 2012, is expected to move the discussionforward, with a focus on prevention, diagnosis andtreatment. In addition, several exciting grant applicationsexploring various aspects of this insidious disease in FApatients are currently under review. Stay tuned for futureupdates.News From the FundUpcoming EventsContact Pauline Thaler, Project Coordinatorat the Fund, at pauline@fanconi.org with detailsof upcoming fundraising events. We will includeyour information on the Fundraising EventsCalendar on our website.Help Advance FA Research!FA researchers are working hard to find effectivetreatments and a cure for Fanconi anemia, butthey can’t do it alone. FA researchers need you.Please consider donating research material.For more information, contact:Teresa Kennedy, Fanconi Anemia Research Fund, Inc.Phone: 541-687- 4658 or Email: teresa@fanconi.orgWorking together to advance FA research.Visit Our NewFA MarketplaceThe Fanconi Anemia Research Fund is pleasedto announce a new feature on our website—theFA Marketplace. The FA Marketplace is a pagefeaturing items for sale by families affected byFA and a central location where friends, familiesand donors can purchase items that benefit theFund. One hundred percent of the net proceedsare donated to the Fund for FA research andfamily support.Visit www.fanconi.org, click on the “fundraising”button and shop in the FA Marketplace. Each FAfamily “shopkeeper” handles his or her own sales.If you currently sell items and donate the netproceeds to the Fund, and would like to be apart of the FA Marketplace, please email PaulineThaler, Project Coordinator for the Fund, atpauline@fanconi.org.Family Newsletter #50 23

1801 Willamette St, Suite 200Eugene, Oregon 97401RETURN SERVICE REQUESTEDREMINDERSTAFFBOARDSUse of LogoA reminder to our families with FA: pleaseuse our logo or letterhead only after you haveconsulted our staff here 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 HELPStaffBeverly Mayhew, Executive DirectorTeresa Kennedy, Director of FamilySupport ServicesKristi Keller, Bookkeeper/Administrative AssistantKim Larsen, Conference Coordinator/Grant WriterPauline Thaler, Project CoordinatorNewsletter EditorsLynn FrohnmayerDavid FrohnmayerLaurie GerloffJoyce OwenPauline ThalerDonations 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, VicePresidentRuby Brockett, Secretary/TreasurerMary Ellen EilerRichard Gelinas, PhDDeane Marchbein, MDBrian Matthews, PhDKevin McQueenPeg PaddenMark PearlKevin RogersRobert SacksMichael VangelJoyce Owen, PhD, Director EmeritusDavid Frohnmayer, JD, Advisor to theBoardScientific Advisory BoardGrover C. Bagby, Jr., MD, ChairJoseph Califano, MDMarc Coltrera, MDRichard Gelinas, PhDEva Guinan, MDChris Mathew, PhDStephen Meyn, MD, PhDRaymond J. Monnat, Jr., MDElaine Ostrander, PhDBhuvanesh Singh, MDErich M. Sturgis, MD, MPHJakub Tolar, MD, PhDWilliam N. William Jr., MDLayout and Design: www.KerryLutzDesign.com Please recycle this paper.