Summer 2010 - CdLS

More documents

Recommendations

Info

Di r e c t o r’s MessageLiana and Brennen, posing for a photo-op at the2010 Conference Banquet.Keeping Conference AliveOn my flight home from Dallas following the family conference, I had fourhours to catch my breath and replay in my head the previous days. I saw oldfriends, new faces, had lots of laughs and a few tears as I reminisced.At the beginning of conference, I told a room full of people that conferencewas going to change their lives. I have no doubt that it changed many,especially first-time attendees. Out of 128 families coming to conference, 40percent were first-timers. Here are some examples of what we’ve been hearingfrom these families:Being there with all the families felt so natural. It was more of a family reunionthan anything. Those few days were full of laughter and tears but in the end Iwalked away feeling so much better than I had …I was hesitant to go, but I was blown away once I was there. I know now that I’ll never miss another one.We were never alone. If you walked up to a group of families, people were rarely holding their own kids. It was such a lovingenvironment and I really miss my new friends.When I hear things like that, it reminds me how important our biennial conference is. For families, it’s not just threedays of workshops and consultations, it’s staying up late in the hotel lobby, sharing, laughing and supporting each otherwhile passing babies and toddlers around from lap to lap.The Foundation is committed to ensuring that conference continues. That’s why we’ve launchedthe 21 st Century Conference Fund—a restricted fund to ensure that families will continue tolearn, share and make memories in the future.To endow this fund, the CdLS Foundation will need $2 million. It won’t happen overnight. It’lltake slow and steady steps to get there, but we’re on our way. By conference, five families hadcommitted $1,000 each. During conference, another $5,000 was pledged. If we can continuethat momentum, we’ll keep chipping away at that big scary number, making it smaller and less intimidating.So please join in this worthwhile effort and contribute to the 21 st Century Conference Fund. No amount is too small.You’ll be rewarded with a warm, fuzzy feeling, and if you pledge $1,000 or more, you’ll be a part of our founding familiesand receive a commemorative plaque.Please contact me at director@CdLSusa.org or 800-753-2357.56Closer Look: Mapping aPlan for your Child’s FutureEducational Symposium:A Look InsideIn This Issue4 Collaboration for Continuing Care: 8 The Experience of ConferenceRecap and Next StepsSuper Siblings: David and Michael7 Closer Look: Educational andTherapeutic Experiences of Children13 Fundraising Eventswith CdLS1011Grandparent ConnectionsSincerely,Liana Garcia-Fresher, R.D., M.S.Executive Directordirector@CdLSusa.orgReaching Out2www.CdLSusa.org
Th e Fo u r t h CdLS Scientific Sy m p o s i um :Im p r o v i n g Un d e r s ta n d i n g o f CdLSBy Dale Dorsett, Ph.D., CdLS Foundation Research Council Chair; Professor, SaintLouis (MO) University School of MedicineThe Fourth CdLS Foundation ScientificSymposium, held in Dallas, TX, June 24, revealedhow far we’ve come since the first CdLS gene wasdiscovered in 2004. It also illustrated how far westill need to go.On the clinical front, presentations included theemerging evidence for premature aging, a highincidence of sinusitis, malocclusion (misalignmentof teeth) and thrombocytopenia (low bloodplatelets), and prevalence of sleep disorderedbreathing. Although further studies are needed to verify some of these, they allhave clinical implications for care.Dr. Laird Jackson, the former Medical Director of the Foundation, reported onhis “Causes of Death Study”, revealing a strong need for a CdLS patient registryto allow better investigation of causes of death and all other clinical aspects ofCdLS.An emerging theme was the high prevalence of autism spectrum disorder inCdLS—becoming more severe at puberty—as reported by multiple investigators.Parental stress was also discussed, revealing parenting stress is much higher withCdLS than with Down Syndrome. This is thought to be due to the more challengingbehavior and low levels of pro-social behavior in children with CdLS.A dental study looking at anesthesia revealed that 80 percent of individuals withCdLS had an adverse reaction to Versed (Midazolam) compared to 28 percent ofthose on other agents with an adverse post-operative event. And on the prenataldiagnosis front, studies show that a combination of ultrasound, growth restriction,and maternal serum markers can provide strong evidence for CdLS in utero,important in genetic counseling.On the basic science side, rapid progress was reported since the first realizationthat CdLS is caused by molecular disturbances in the proteins involved in sisterchromatid cohesion, a fundamental process ensuring proper inheritance of geneticinformation every time a cell divides.Changes in the genes NIPBL, SMC1A and SMC3 have been found in CdLS—proteins from these genes form the cohesin complex and other genes are continuingto be investigated. Model organism studies in yeast, fruit flies, zebrafish, and micehave revealed that the genetic changes that cause CdLS affect development byregulating gene expression and not chromosome inheritance.Zebrafish work has showed that cohesin proteins are a key regulator of cellproliferation and growth and might contribute to the slow growth and small sizein CdLS. Studies in zebrafish and mice have revealed numerous changes in geneexpression, particularly in the developmental pathways of the heart and brain.1-800-753-2357continued on page 6CdLS FoundationCornelia de Lange Syndrome Foundation, Inc.Reaching Out, Providing Help, Giving HopeReaching OutPublished Since 1977(ISSN 1097-3052)Cornelia de Lange SyndromeFoundation, Inc.Incorporated December 1981302 West Main Street, #100Avon, CT 06001800.753.2357, 860.676.8166fax: 860.676.8337email: info@CdLSusa.orgwww.CdLSusa.orgBoard of DirectorsPresident.. . . . . . . . . . . . . David Fowler, MAVi c e President .. . . . . Glenn Dixon, Esq., NCVi c e President .. . . . . . . . . David Viland, MNTr e a s u r e r .. . . . . . . . . . . . Paul Patitucci, PADi r e c t o r s. . . Eileen Ahearn,M.D., Ph.D., WI. . . . . . . . . . . . . . . . . . . . . Garth Black, PA. . . . . . . . . . . . . . Robert Boneberg, Esq., NJ. . . . Kari Cunningham-Rosvik, A.P.R.N., WA. . . . . . . . . . . . . . .Dale Dorsett, Ph.D., MO. . . . . . . . . . . . . . Elizabeth Fouts,Ph.D., NH. . . . . . . . . . . . . . . . . . . . David Harvey, GA. . . . . . . . . . . . . . . . . . . Penny Ketchem, PA. . . . . . . . . . . . . . . . . . . Marc Needlman, ILPROFESSIONAL STAFFEXECUTIVE DIRECTORLiana Garcia-Fresher, R.D., M.SMEDICAL DIRECTORAntonie Kline, M.D.ASSISTANT EXECUTIVE DIRECTORMarie Concklin-MalloyCOMMUNICATIONS COORDINATORAlexi DaleneDEVELOPMENT COORDINATORGail SpeersFAMILY SERVICE MANAGERDeirdre Summa, M.S.W.FAMILY SERVICE COORDINATORSLynn Audette, M.S.W.Janette Peracchio, M.Ed.FINANCE MANAGERKelly BrownINFORMATION COORDINATORBarbara KoontzAll information contained herein is for the reader’spersonal interest. Articles on treatments, medications,or procedures, etc. are not guides for selftreatment.Questions should be discussed with yourdoctor or other appropriate professionals.3 Su m m e r 2010
Page 1: Reaching OutThe Newsletter of the C
Page 5 and 6: Mapping a Pl a n f o r y o u r Ch i
Page 7 and 8: Ed u c at i o n a l a n d Th e r a
Page 9 and 10: 1-800-753-23579 Sp r i n g 2010
Page 11 and 12: Gr a n d pa r e n t Co n n e c t i
Page 13 and 14: Ra i n Doesn’t Da m p e nBi k e r
Page 15: Cornelia de Lange Syndrome Foundati

Summer 2010 - CdLS

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?