When you or a loved one are diagnosed with a medical condition, questions can go racing through your mind, including ones about treatment options. But for those with a rare condition, finding treatment can be difficult.
A newly passed piece of federal legislation looks to change that by strengthening and accelerating the approval process for treatments.
Millions of Americans live with rare or ultra-rare diseases, including many New Yorkers. And for a lot of them, there are minimal treatment options.
But that could change soon.
“Some say it’s a journey," said Jay Honsinger, whose son, J.P., battles Niemann-Pick type C disease (NPC). "I say it’s a nightmare."
Honsinger described NPC as the childhood Alzheimer's, "as it slowly destroys the brain," he said.
It’s a rare disease that has required J.P. to receive more than 200 spinal taps over the past nine years. During that time, J.P. has been treated with cyclodextrin, an experimental drug that appears to slow NPC.
“I went to the FDA, spoke to doctors, and at the time, they were kind of leaning our way. But then the administration changed,” Jay Honsinger said.
Last year, the Food and Drug Administration did not approve the drug, which means after next month, it’ll no longer be an option for J.P.
“You can’t get anyone there to be accountable to you," Honsinger said. "They don’t feel like they’ve got to talk to you or anything.”
Enter the HEART Act: Helping Experts Accelerate Rare Treatments, which was signed into law by President Joe Biden in December.
“We want to make certain with this HEART Act, we’re incorporating, amplifying the voices of individuals, patients and families,” U.S. Rep. Paul Tonko said.
It could strengthen the FDA’s review process for drugs that treat rare and ultra-rare diseases by also involving scientists and doctors, like those from the University at Albany’s RNA Institute, with expertise throughout the review process.
“We’re looking forward to the great research, to the impactful research, that will help save lives in our country,” UAlbany President Havidan Rodriguez said.
Tonko championed the bill in Washington, D.C. He said it's important to look beyond the nation's borders, as well.
“Making certain we’re looking at other opportunities like the E.U., the European Union, and some of the work they’re doing,” Tonko said.
It's something the Honsingers could benefit from, as the treatment J.P. has been utilizing is approved in the E.U.
Honsinger said given the support from the community and a national advocacy group, J.P. will be able to get the treatment he needs, and they will cheer for the HEART Act’s success.
“It’s too late for me," Honsinger said. "But I hope to help future families because every day, thousands of people are getting diagnosed, or have a rare disease and don’t even know what it’s called.”