FA Family Newsletter Fall 04 - Fanconi Anemia Research Fund

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Johnathan Eckstadtby Ann EckstadtWe found out that Johnathan hadFanconi anemia when he was threeyears old in 1993. It was the worstnews any mother could ever hear andvery hard to accept. Johnathan’scounts remained stable until the year2000 when his hemoglobin droppeddown to 5.2, and he had to have hisfirst red blood cell transfusion. Wehad to choose at that time between abone marrow transplant or startingJohnathan on the steroid Anadrol tostimulate his red blood cells. Wechose to put Johnathan on thesteroid rather than undergo a bonemarrow transplant, to buy somemore time. We knew that theFairview Hospital in Minnesota wasmaking rapid progress in unrelateddonor transplants and felt it wouldbe better to wait for that reason.Johnathan responded well toAnadrol for about three years. Theside effects of Anadrol include adenomasor tumors of the liver. In Augustof 2003 an ultrasound and CT scanshowed that he had a mass in hisliver, and he had to have surgery toJohnathan EckstadtFA families and patients listen to medical presentations at Regional Meeting.FA Regional Meeting Held in Los Angeles AreaThirty-two FA patients and their families from the West Coast met onSaturday, May 22, 2004, in Monrovia, CA, for an FA Regional Meeting.Blanche Alter, MD, MPH, National Cancer Institute, provided informationon the basics of Fanconi anemia and on the risks of FA patients acquiringsolid tumors. David Kutler, MD, New York University, provided specificinformation on the squamous cell cancers of the head and neck that affect FApatients, and Susan Rose, MD, Cincinnati Children’s Medical Center, spokeon diabetes and hormonal problems in FA. Josef Rosenthal, MD, City ofHope, discussed bone marrow transplants for Fanconi anemia patients andprovided a tour of the City of Hope Comprehensive Cancer Center. Asalways, a highlight of the meeting was that FA families had the opportunityto meet each other and share their experiences in dealing with FA. Ourthanks to the physicians who gave their time and expertise to the FA familiesat this meeting. ◆have it removed. The surgeons foundanother small tumor of the samenature while in surgery and removedthat one as well. Johnathan camethrough his surgery with flying colorsand was back on the basketball courtin no time, although he had to stoptaking Anadrol for fear he would getmore tumors. His blood countsbegan dropping, especially his redblood cells. Eventually, he had tohave monthly red blood cell transfusions.Johnathan’s bone marrow transplantin Minnesota was on July 7,2004. I asked Johnathan if he wasnervous, because God knows that Iwas! He told me that he was not thatnervous and was glad there was aprocedure out there that could takehis disease away. When the small bagof the new bone marrow was broughtinto the room, it was a very emotionalmoment. I thought that the donorhad a very big heart to want todonate bone marrow so that my soncould live. I remember it describedon someone’s Caringbridge site as abag of gold. The procedure took only30 minutes and, then, a new journeyhad begun. Johnathan hit somerough patches along the way, but healways came through them with acontinued on page 118 FA Family Newsletter
Our Experience with PGDby KatieWe’ve done eight PGD-IVFcycles, and we’re still gung ho andtrying. Chloe’s counts are OK—notgreat but not terrible—and we’re justpraying we’ll have the time andmoney to keep trying until we’re successful.As many of you know, PGD-IVF stands for pre-implantationgenetic diagnosis in conjunction within vitro fertilization. Chloe was diagnosedwith FA at thirteen monthsand, when we learned of her condition,we were already trying to haveanother child. We were so grateful tohear there was a way to have anotherchild who we could be assuredwouldn’t inherit this awful disease.And we were floored to hear thatthrough that process we could helpChloe. Although the process is difficultmentally, inconvenient logistically,uncomfortable physically, andexpensive, the potential rewards—ahealthy baby and help for Chloe—are priceless.We didn’t know much about theprocess our first time through, whichmade it a little harder. Now thatwe’re fully familiar, it has becomeroutine and much easier. The protocolsdiffer from doctor-to-doctor andpatient-to-patient, but I’ll share ourexperience in case it’s helpful. AnIVF cycle takes about six weeks. Wedid injections of hormones every dayduring this time. Some of the injectionsare subcutaneous, and I coulddo them myself in my stomach.Some of them are intramuscular andKevin did these for me in my hip.The intramuscular shots are uncomfortable,particularly the progesteroneones, but not really painful.We typically begin a cycle withtwo weeks on a drug called Lupron,which simulates menopause andturns your body “off” so that yourIVF specialist can manage yourreproductive system. Then we begintwo weeks of drugs to stimulatethe development of eggs.During these two weeks, I visitour IVF center almost everymorning for blood work tocheck my hormone levels andan ultrasound to check myegg/follicle production. Everynight, based on the results ofthe blood tests and ultrasound,I am told how much of eachstimulating drug to inject(there are usually three shotsChloenightly). It is time-consumingfor Kevin to mix the medicationsand prepare the injections. He embryo is still growing in culture atsays he feels like he’s back in chemistryclass. I don’t know if it is a side won the lottery. We jump in the car,the IVF center, we feel like we’veeffect of the medications or the stress race to the hospital, and implant theof wanting so badly for this to work, embryo in a painless procedure donebut I am pretty irritable during this fully awake. Then we hold our breathtime. We just try to maintain a sense for another 10 days until we have aof humor. After these two weeks of pregnancy test. During these twostimulation, my doctor retrieves weeks of hoping and waiting we’remature eggs. This is an outpatient doing progesterone injections nightlyprocedure done under a mild sleep and doctor visits occasionally. Weanesthetic. This is when the hard find strength in the love and caringpart begins, mentally. Physically, I of our family and friends.take a few Tylenol, rest that day, and On our last cycle, we had our firsttake it easy for the next few days. positive pregnancy test result andIn five days we know if we have were elated, euphoric, and ecstatic.an embryo that does not have Fanconianemia and is an HLA match year now, and we’ve been prayingChloe’s been asking for a sibling for afor Chloe. The waiting is maddening,as are the bits of information we ued with progesterone injections forand trying for over two. We contin-receive, because the numbers and, three more weeks after the pregnancytherefore, the odds of success just test, until we had our first ultrasound.Unfortunately, there was nokeep going down. Immediately followingthe retrieval, we learn how heartbeat, and our hearts brokemany eggs were harvested; the day again. But you know how strong allafter the retrieval we learn how many of our FA family hearts are, and thatof those eggs were mature and fertilizedinto embryos. Three days after the pieces back together and keep onthere’s nothing we can do but gluethe retrieval, we learn how many of going.those embryos are still viable and able Zev Rosenwaks, MD, and histo be biopsied for genetic testing team at Cornell and Mark Hughes,(only one cell from the embryo is MD, Genesis Genetics Institute,sent for testing). If there’s a healthy Detroit, have been so good to us. Weembryo that is a match and, if that continued on page 18Fall 2004 9
Page 1 and 2: FA FAMILYNEWSLETTER#36 A Semi-annua
Page 3 and 4: Recurring Clonal Chromosomal Abnorm
Page 5 and 6: Ear and Hearing Problems in Fanconi
Page 7: Karly’s Storyby Nancy RossOur dau
Page 11 and 12: The Long Journeyby Esmat and Rehman
Page 13 and 14: The Frock kids dressed for the Masq
Page 15 and 16: Why Our Family Decided To Raise Fun
Page 17 and 18: Family Fundraising EffortsFrom Janu
Page 19 and 20: Honoring the Beloved Memory ofOur F

FA Family Newsletter Fall 04 - Fanconi Anemia Research Fund

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