Researcher: Funding for rare diseases can be tough
Research funding for rare diseases continue to be a major challenge, even with some promising studies in the works.
For one Georgetown family, Cystinosis is a rare metabolic disease they are all too familiar with.
Chandler Moore, 11, was diagnosed at 10 months old.
The condition causes cystine to accumulate in various organs, affecting mostly his kidneys and eyes.
In a past interview, Chandler’s family told 47ABC he takes dozens of oral medications every day and applies eye-drops every hour he’s awake; however, new research finds that daily regimen can be tweaked.
“The medication lives in your tears for ten minutes at the most so why not give it every ten or 15 minutes for a much shorter period of time, so that’s what’s we’ve tried to do,” explains Dr. Paul Grimm. “The patients love it, and their eyes look just as good on the exam.”
Dr. Grimm is a children’s kidney specialist with Stanford Children’s Health.
He explains this method of treatment is an example of ongoing work among clinicians working with patients who are living with Cystinosis.
Clint Moore, Chandler’s father, says this could make life a little easier and they would be open to this alternative.
“He [Chandler] could possibly miss less classroom instead of running back and forth to the nurses,” says Moore. “If he was on the football field as the water boy, I was always the guy running out there…hurry up and do some of the drops. Apparently maybe I can stop doing that.”
Dr. Grimm explains the disease is rare with only about 600 identified in the U.S.. which makes funding for more research tough.
It’s why he stresses the importance of donating to smaller efforts run by families and community advocates, like the Moore’s. They host an annual fundraising effort known as Chandler’s Chance.
“Giving some funds…donating, isn’t just helping Cystinosis patients. It’d actually going to help a lot of other people,” says Dr. Grimm.
In 2015, Chandler’s Chance raised 18,000 dollars for the Cystinosis Research Network.
