Dr Ian Krantz, pediatrician and geneticist and Head of the Roberts Individualized Medical Genetic Center at Childrens Hospital of Philadelphia, and Elizabeth DeChene, Genetic Counselor and mother to a child with a rare genetic disorder, discussed Cool Cars For Kids, a non-profit raising funds for research at CHOP through their annual Concours d’ Elegance. We discussed genetic disorders, combined there are some 7,000 ‘rare’ diseases, but the individual conditions can affect very few, making diagnosis and treatment difficult, with some being passed through families, others by a single mutation. Ms DeChene discussed her family’s path through birth and diagnosis, not made any easier by her own professional experiences. Her daughter is one of fewer than 100 people in the world with her neurodevelopmental disorder.
Cool Cars was founded by car-enthusiast Dr Krantz, famous car collector Mike Tillson and legendary former Eagles coach, Dick Vermiel, whose granddaughter was treated at CHOP for her own genetic disorder. Each year they host the Friday and Saturday event, this year June 23rd and 24th, at the Simeone Auto Museum. This year’s theme is a celebration of the Porsche, celebrated with a Gala Friday night and reveal of this year’s judged rare and historic vehicles, a Saturday parade of Porsches, and then a family-fun event featuring the classic and antique entries and a corral of cars from the general public.