"A normal day for a child with cystinosis is constant medication and eye drops and, of course, you have all the side effects, such as losing your appetite because of all the drugs," Nancy Stack said. "No one knows where a cure will come from, but we know that by funding research, we're certainly going to get there sooner."
Former Buffalo Bills quarterback and Pro Football Hall of Fame inductee Jim Kelly, who will be the featured speaker at this year's fundraiser, is all too familiar with the perils of rare diseases.
Two years ago, Kelly lost his 8-year-old son, Hunter, to Krabbe disease.
Like the Stacks, he founded a research foundation, Hunter's Hope, demonstrating his commitment to "turning negatives into positives."
"The bottom line is no matter what you do in life, in sports, in business, in family, you are going to face tough times, and you can't just feel sorry for yourself," Kelly said. "My wife and I knew we could make good from Hunter's experience by changing the lives of other children."
Kelly also hopes to ensure that all states are testing for the maximum amount of diseases possible when a baby is born, as early detection means early treatment.
"My son never smiled, he never moved a bone in his body, so to see other children with the same disease who can communicate and have some motor skills is so encouraging," he said.
Krabbe disease and cystinosis are two of the approximately 6,000 rare or orphan diseases that, all together, affect 25 million Americans, Stack said, adding that research on rare disorders is crucial as it can lead to discoveries about other, more common ones.
