News Feature

Medical Answers: In Search of a Cure

August 15, 2007

Imagine hearing that two of your three children won’t live to see age five. That grim prognosis faced John Crowley in 1998, when he learned that daughter Megan and son Patrick both had Pompe disease, a genetic muscle disorder that destroys the ability to walk, eat, and breathe without help. Pompe was so rare that no one had developed effective treatments. Crowley (subject of a new book called The Cure) launched a foundation, a biotech company, and a global search for expert help.

Enter Alfred E. Slonim, MD, a pediatric geneticist at the Columbia University Medical Center. One of the first physicians to treat Megan and Patrick, Slonim helped prolong their lives by developing a high–protein, low–carbohydrate diet and a new form of physical therapy that keeps their limbs as active as possible. “Dr. Slonim’s care, expertise, and passion are extraordinary,” Crowley says.

Maintaining this high standard of patient care and research throughout CUMC, along with fortifying its outstanding education, faculty, and public health initiatives, is a prime Campaign goal. Support includes a $500 million goal in key clinical and research areas. To help fund Slonim’s research and begin building a medical unit that treats metabolic muscle diseases and serves 200 patients per year, Amicus Therapeutics, headed by Crowley, recently gave CUMC a $100,000 grant. Slonim continues to care for Patrick and Megan—who are now eight and nine years old.
— Molly Ginty