Children’s genetic disorders and the non-profit Cool Cars for Kids were discussed by Sarah E. Raible, MS, LCGC, a genetic counselor and the clinical director of the Center for Cornelia de Lange Syndrome (CdLS), and rare disease core leader in the Roberts Individualized Medical Genetics Center (IMGC) at Children’s Hospital of Philadelphia  and the Chief Operating Officer of Cool Cars for Kids, and Lainey Moseley, an Emmy® award winning journalist working for CBS and NBC News,  founder of CHOPS Syndrome Global; an organization raising awareness for her daughter Leta’s rare disease CHOPS Syndrome, and Cool Cars for Kids Board Member. 

We talked about how ‘rare’ is rare?  One in 11 families are affected by some form of genetic disorder, ranging from clef lip, spina bifida, to heart malformations and other identifiable conditions.  Othe genetic mutations can be so rare that – as in the case of Leta, the exact cause can take decades to discover.  Her disorder was identified by a CHOP test when she was 18, her genetic condition named CHOPS Syndrome in honor of the hospital that discovered it.  Today there are some 40 patients found in Italy, Texas and around the globe, now connected by Lainey’s organization.   

We spoke about the extra roles the parents of these children must take on, caregiver, advocate and researcher.  Lainey is currently in post-production on her documentary RARE, an essay-style documentary in three acts, each delving into the lives of families grappling with rare diseases, the immense challenges they face, and the remarkable scientific progress they drive in the quest for cures. She has also organized their 2nd CHOPS Syndrome symposium in Philadelphia this summer, July 19th and 20th where Unravel Bioscience will be discussing their results for potential FDA repurposed drugs that may be treatment options for their kids.  

Fundraising is vital to these families and to the research that helps identify their conditions.  Cool Cars for Kids was founded by former CHOP geneticist Ian Krantz , Sarah and others to provide help and hope to children with rare genetic diagnoses and their families, and to support research that will identify the best possible treatments and cures. 

Their annual fundraiser, the Seventh Annual Philadelphia Concours d’Elegance kicks off with a Preview Gala on Saturday, June 22, followed by the main event on Sunday, June 23 at the Simeone Foundation Automotive Museum.  Tis year’s featured model is the Jaguar, with special displays and a panel discussion about the vehicle.  There will again be the Cool Car Corral, an outdoor space where anyone can display their ‘cool’ car, classic, rare or just beloved.  Kids activities, music, food trucks and admission to the Simeon racing car collection are part of the day’s fun.   Tickets and corral registration available by visiting philadelphiaconcours.com or coolcarsforkids.org.  Walk-ins and drive-ins are welcome that day.