Summer 2010helping HandsFOR FRIENDS, FAMILY, AND SUPPORTERS OF THE CHILDREN’S GAUCHER RESEARCH ephDeFacciJamesAndrewTylerDennisDoran Jr. CooperLaurenMarshRyan CameronJamesRobertConklin WatsonKristina Madeline Grant & Danielle Emma C. JosephineCollinGarrett Loncharich Pozzobon RoseC.LampittGeyerT H E O N L Y T H I N G I N C U R A B L E I S O U R PA S S I O NRemembering JosephineOur story began in early December2008. We were scheduled to bringour then eight-month-old daughter, Josephine Rose Lampitt, toChildren’s Hospital of The King’sDaughters (CHKD) in Norfolk.She had been seen by other doctorsbefore for what various specialistshad repeatedly described as “severereflux,” a relatively common andbenign disorder that most childrenoutgrow.We expected our visit to includea continuation of the refluxdiagnosis but also a more detailedread-out on the cause for hernewer symptoms, among thempoor weight gain, unusual eyemovements and persistent crankiness. The weight gain issue in particular was perplexing as we had tried for months to increase Josephine’sbody weight with breast milk supplements, then formula, and eventuallya high-calorie formula concentrate. Nevertheless, we’d been assuredthat there was no reason to worry.To our horror, we soon found ourselves confronting every parent’sworst nightmare: a diagnosis of an extremely rare and incurable diseasethat would take our infant daughter from us. The doctors explained thatJosephine had a rare metabolic disease— specifically, a lysosomal storage disorder known as Gaucher (pronounced “go-shay”) disease. Ofthe three forms of the disease, only Type I has a sustainable treatmentwhile Types II and III have a degenerative neurological component thatis untreatable and incurable. Josephine had the rarest form, Type II.Words fall short of capturing the emotions we felt then and have feltever since, but shock, disbelief and horror are starting points. We hadno known family history of that disease nor any disease for that matter.My wife and I had above-average health. We were both college-educated and from seemingly average American families. We were financiallystable with a sound marriage and strong faith. We already had onehealthy son. Until that time we naively believed that this was the typeof tragedy that affected others,the proverbial “people down thestreet.” We could not have beenmore wrong.We soon found ourselves lookingback fondly on Josephine’s firstsix months when she behaved andappeared, for the most part, asa normal, healthy baby girl. Shehad been irritable at points, butthat in itself had not alarmed us.Likewise, she had raspy breathing,but that had been attributed to thereflux. She made unusual facialexpressions from time to time, butwe (and her doctors) had reminded ourselves that every baby hashis or her own ‘isms,’ quirks andsilly expressions. She had made our family complete—a mom, a dad, ason and then sweet Josephine to balance the gender mix. We had allbeen thrilled when she was born, especially our son, who was eager tosee his little sister grow up before his eyes.Now, my wife and I were faced with how to take care of a dying child,how to ensure Josephine had the best short little life possible with thebest access to doctors, the most quality time with family possible andthe most comfort science and faith could offer.We also had to consider our son’s emotional and mental health throughher illness and, we feared, her impending death. My wife and I put ourown needs—physical, mental, emotional—largely on hold, though weremained attuned to the fact that preserving our marriage during thistime of chaos would be key to giving Josephine and our son the bestsupport.We scoured the Web for every morsel of information we could find onGaucher disease, Type II. We found very little. We learned of a singleorganization dedicated specifically to Gaucher Type II and III—theChildren’s Gaucher Disease Research Fund—through which we gainedsome insight but also fear and increased sadness. The group’s Website-continued on next page
-continued from last pageAn oxygen pump and pulse-oxygen monitoring machine soon arrivedat our home. The monitoring device measured the oxygen level inJosephine’s blood at night while she slept (and eventually during theday as her disease progressed). With increasing frequency, the devicewould emit a piercing alarm—indicating that her ever-weakening lungscouldn’t meet her body’s demands for oxygen. The alarms became sofrequent that (with approval from doctors) we gradually adjusted thedevice’s sensitivity to allow us to sleep through some of her less-seriousspells. Other nights were so rough that we took shifts sleeping on herfloor huddled in a blanket. Being closer to Josephine allowed us to respond more quickly with a direct, focused administration of life-savingoxygen and, equally important, a warm, reassuring hug for our sick,panicked child.In short, we went to bed each night not knowing whether Josephinewould still be with us in the morning. It was terrifying.(www.childrensgaucher.org) conveyed the stories of children who hadalready succumbed to the disease. Each child’s story drilled home to usthe reality of Josephine’s future.By mid-December 2008, Josephine started receiving all of her mealsthrough a nasal-gastric tube inserted through her nose. This was theonly means of increasing her caloric intake since the disease had begunto impair her ability to swallow and/or swallow without liquid enteringher lungs. The lasting image in my mind of a tube protruding from ourchild’s nose is indescribable. Moreover, the mechanical and logisticalchallenges of administering meals and medications through the tubeonly added to our physical fatigue.On Dec. 23, Josephine had her first round of enzyme replacementtherapy (ERT). The treatments, which she would need two to threetimes a month, helped to ease some of her non-neurological symptomssuch as an enlarged spleen and liver. We undertook the lengthy, costlytherapies to improve the quality of her life as no treatment can stop oreven stall the neurological degeneration caused by Gaucher.By January 2009 we decided to bring Josephine to one of the world’spremier institutions for medical research—the U.S. National Institutesof Health (NIH) outside of Washington, D.C. We were reminded inadvance that NIH’s mission is to research treatments, but that the dividends of the research process would be our (and future generations’)better understanding of the disease. Clearly, our goals for Josephinehad changed. We continued to hope for a miracle, but we conceded thatmodern science could not save our child. We sought information fromresearchers to help us enhance Josephine’s quality of life and, ultimately,quality of death. Though our NIH doctors proved to be a tremendousresource as they interpreted a battery of tests, they couldn’t predict howJosephine’s specific gene mutations would manifest themselves in thecoming weeks or months.We decided we’d keep Josephine at home as much as possible, out ofarm’s reach of doctors who openly admitted they could not help us.This decision, in effect, removed the uncertainty over an extremelylong-shot, unproven option of a bone marrow transplant in NorthCarolina.“We continued to hope for a miracle, butwe conceded that modern science couldnot save our child.”Through all our hospital visits, and especially the home visits of ourwarm-hearted and gifted pediatric nurse, we became increasingly wellversed in terms and concepts we had never before grappled with. Welearned what a palliative care expert was, and we learned the names ofmedicines such as Ativan (for anxiety), Robinul (an expectorant) andmorphine (for pain) and the proper method for administering these potent drugs around the clock. We came to understand the nuances of aDo Not Resuscitate (DNR) order, a legal document designed to clarifyto emergency responders whether to give life-saving resuscitation. On amore mundane level, we had to walk past the children’s spring clothinglines at stores, knowing Josephine would likely not need new outfits.We had to stop saying “It will be OK” in response to our daughter’scries when we knew in our hearts that it would not. More disturbing,but necessary, we had to consider how, when and where Josephinemight die.
In the latter half of January, Josephine’s nasal-gastric tube was replacedwith a tube that went directly to her stomach, giving her tender nosereprieve from the constant rubbing of the feeding tube and allowingher hands to swing more freely. Now that the feeding tube was hiddensecurely under her clothes, she could finally feel her face again withoutrisk of pulling the tube out.Due to increasingly frequent and alarming sleep disturbances, we admitted Josephine to CHKD in early February 2009 so that doctors couldconduct an overnight sleep study and hopefully determine the cause.The study revealed that the disease was causing severe sleep apnea(obstructive and central) and depriving her of “active sleep,” which issimilar to REM in adults. [Ed.: Obstructive sleep apnea is the resultof a collapsed or blocked airway while the central type is neurological,meaning the brain stops telling the body to breathe.] It was during thatvisit that a sleep expert noted the precious manner in which electrodepeppered Josephine caressed her mother’s face. His passing commentinspired me to snap a photo. That photo tells our story; it motivates meto this day.We had a serious scare on February 15. Whereas previous apneic episodes had occurred at night, Josephine experienced one in the middleof the day during naptime. By chance—the monitor was not set upfor daytime alerts—we discovered her mid-nap, a pronounced shadeof blue. We quickly administered the oxygen pump and seconds laterwere relieved to have her back in our arms as a smiling child. Nonetheless, we were reminded that she was living on borrowed time. We callednearby relatives for moral support and were comforted by their visit.We sent our son home with his cousins for a sleepover out of fear thatJosephine would not make it through the night.To our surprise, the night was uneventful. Josephine woke up the nextmorning looking and feeling great. We cut up an apple and let her tasteit. This was consistent with doctors’ advice to allow Josephine to enjoyone of life’s most basic pleasures. As with lollipops a few days before,and decaffeinated coffee and tea before that, she lit up with excitement.Such tastes would probably excite any child, but they took on specialmeaning for Josephine. By this point, she was not tasting any foodor liquids; her nutrients were delivered straight to her stomach via agastrointestinal tube.After Shutterbug Dad snapped a few photos of Josephine licking theapple, we packed her up in the car and drove to pick up her brotherat our relatives’ house. Since she was doing so well and we planned toreturn home shortly, we left her medicines and equipment at home. Wehad a good visit, and Josephine even had some pleasingly strong laughsand giggles as she tasted some tea from her mother’s mug.Monday, Feb. 16—President’s Day, I remember—was warm enoughthat the older children went outside to play. My wife laid Josephinedown to change her diaper, and that’s when we noticed Josephine wasgetting short on breath. And then it happened. Despite weeks of nervous anticipation and inconsistent medical advice about how long shemight live, Josephine was gone.We had known this moment would come, and had made various preparations, but nothing could prepare us for the shock. We were allowedprivacy as we said goodbye to Josephine, holding her in our arms for an“ a sleep expert noted the precious manner in which electrode-peppered Josephinecaressed her mother’s face. That photo tellsour story; it motivates me to this day”hour or so before we made the dreaded phone calls. She escaped thisworld in a natural state, free from tubes and machines and hospitals anddoctors. She cutely circumvented every man-made device designed tohold on to her, undermined every plan we’d made for her last days andminutes. She reminded us of those things we cannot control.Josephine’s death marked an important crossroads in our struggle.Her weight shifted from our arms and into our hearts, where it hasremained. But we view her death as a turning point, not an end. This isnot to say we are not still grieving. Thoughts of her fill our lives yet wefeel her absence.It had always been our dream to have a larger family of three to fourchildren. Doctors presented various means for us to have biological children with no risk of Gaucher disease, but those options wereinconsistent with our beliefs. Likewise, we knew we would not considerterminating a pregnancy if our child tested positive. After countlesshours of weighing the considerations, we decided to let go and openour hearts to the possibility of conceiving again. Our conclusionrested somewhat on the realization that, had we known of the defectsin our genes years ago, we might have scared ourselves out of havingour healthy son and even Josephine—whose impact on the world andpeople who knew her will outlive even us. Some may wonder whetherJosephine’s short life was somehow not worth the pain, that perhapsshe, too, would have preferred to not have experienced it all. Weremind everyone that she experienced laughter and love from the firstday until her very last. How many of us can really expect to be thatfortunate?In July 2009 we learned that we would be parents once again. Manyweeks were filled with uncertainty—but surprisingly, not fear—as weawaited the results of amniocentesis tests that would reveal whether ourchild in utero would display Gaucher disease. We learned the results in
October and ultimately had another healthy baby boy in February 2010.As we approached the one-year anniversary of Josephine’s death (or,her “Angel Day” as we like to call it), we were confronted with anoverlap of conflicting emotions. We were joyful and thankful for theexpected arrival of our next son, but his arrival could not “replace”Josephine, nor would we ever “move on” or “let go.” She’s still a partof our family. We talk about her, and to her, on a regular basis. We visither grave as well as her still-intact bedroom to feel close to her. Photosof her are prominently displayed in our home.We sometimes must make snap decisions as to how much to tellstrangers when they innocently ask about our family, “Just two boys?”,or comment, “Wouldn’t it be sweet to have a little girl?” While theseremarks pierce our hearts, our hard-earned Ph.D. in life and death hasmade us largely unfazed by what others may consider important issuesor major life stresses. We’ve lived through the worst hand life can deal,and we feel we can tackle anything new that comes our way. A shortwhile back we felt utterly helpless; we feel invincible now. And thatfeeling of weathered strength allows us to leverage our suffering for agreater cause.To quote Greg Macres, founder of the Children’s Gaucher DiseaseResearch Fund and father to the late Gregory Macres, lost 13 years agoto the disease:“We can accept our pain and do nothing, or we can channel it to makethe world a better place.”Ed and Claire LampittWilliamsburg, VirginiaThis story was first published inthe Health Journal in February 2010An Incredible 9 MonthsCombined Federal CampaignAcceptance into this selective federal governmentprogram. Search under Children’s MedicalCharities of America – CFC # 76948. See nextpage for more information.New CGRF Websitewww.childrensgaucher.org / www.cgrf.orgWith the help of our volunteers, the CGRF hasinvested considerable time and effort in creating our newstate-of-the-art website. Visit our new website keeping inmind the following:1. Donations – can now be given via credit cardon our website2. Subscribe – you can subscribe to receive emailnotification of the latest articles pertaining tofund-raising – research progress – and recent news.3. Research – publications in scientific journalsresulting from CGRF funding can be accessedon the website.4. Scientific Conferences – abstracts frompresentations at past conferences can be accessedon the website.5. 100% to Research – learn in detail how we maintainthis commitment.6. Family Stories – all family stories are posted onthe website.7. How You Can Help – if you have a passion to help,on the top menu click “How To Help” and then select“Become a Champion”. Here you will find examplesof simple fund-raising ideas. Many are simple, easy, andwill not consume your time.California, Illinois andVirginia State CampaignsState employees can now choose the CGRF as theircharity of choice. See next page for more information.Financial Auditthe CGRF passes with flying colors. See next pagefor more information.Best in America SealThe CGRF has recently earned exclusive recognitionwith the award of the “Best In America Seal.” Seenext page for more information.Remembering JosephineAnd most important we must always remember whywe are doing this. Ed and Claire Lampitt share thestory of their daughter, Josephine Rose Lampitt.
Combined FederalCampaignThe Children’s Gaucher Research Fund has joined forces with theCombined Federal Campaign (CFC) for the first time in 2010 toenable federal government workers located anywhere in the worldto more easily support CGRF’s important work against the deadlyform of neuronopathic Gaucher disease.The CFC allows federal employees to contribute to their favoritecharities, which now includes the CGRF, through automatic payroll deductions or one-time online giving. It is easy, it is convenient,and it makes a difference especially since an impressive 100%of CFC funds received by the CGRF will go directly to medicalresearch. Do you want to help? Here is something simple you cando:22.214.171.124.5.6.Make an email list of everyone you know who works for thefederal government.Email them making them aware that the Children’s GaucherResearch Fund will be listed in the Combined Federal Campaign brochure and website.They should go to “Children’s Medical Charities of America”and look for the “Children’s Gaucher Research Fund” –CFC# 76948Tell them the compelling story of the CGRF – A grassrootseffort by parents who have joined hands to find a cure – acure that could impact 26 different diseases that affect thebrains in children - 100% to Research – etc.Ask them to consider the CGRF if they participate in theCombined Federal Campaign.Ask them to share the CGRF story with their co-workers.The Combined Federal Campaign begins in the Fall so a simpleemail campaign could begin on September 1st. Keep in mind thatevery federal worker will recognize the “Combined Federal Campaign” – approximately 30% participate – and of those we are toldthat over 90% do not have a charity of choice and simply reviewthe brochure/website and do their best to select the right charity.Last year the CFC raised over 270 million for charity. If youcould find a small amount of time to help them in their decisionmaking process, it would be appreciated. Start with your mailman and then go from there.CaliFornia, illinois and Virginia stateCampaignsLike federal employees, state employees also have the opportunity to participate in State Campaigns. The CGRF is approved inthe states of California, Illinois and Virginia. If you have a smallamount of time, email people you know who are governmentworkers in these states. For state workers the instructions are different than for federal workers, but still very simple:1. In the state brochure or website go to “Independent Charitiesof America”2. Find the “Children’s Gaucher Research Fund”3. Note: The CFC Number in the Combined Federal Campaignarticle does not apply to state workers.FinanCial auditIn our pursuit of acceptance by the federal government into the Combined Federal Campaign there wasa requirement for a complete Financial Audit. Giventhat