POTTSTOWN — Watching their children run, jump and play is just part of everyday life for most mothers. But for local mother Lauren Fritz, watching her two sons’ play is a privilege that is fading fast.
This is because Fritz’s sons, Jake, 10, and Ryan, 7, have both been diagnosed with Duchenne Muscular Dystrophy, a fatal genetic disorder that results in progressive muscle weakness. Caused by a mutation in the genetic code, an important protein called dystrophin is missing from the boys’ muscles. Without the protein, the boys become increasingly weaker.
“The disease causes degenerative muscle weakness. It starts in the legs and eventually moves upward to their heart and lungs,” said Fritz. “Most of the boys that are diagnosed die of heart or lung disease.”
Most children with the disorder require a wheelchair by age 12 and live, at best, into their late twenties. While it can be hereditary, as with the Fritz boys, it often pops up in a generation without any family history. And because the dystrophin gene is found on the X-Chromosome, it affects boys exclusively.
“Right now Ryan just has trouble running, he’s slower than the other kids and sometimes they tease him. But Jake needs help bathing, getting dressed and we’ve just bought him a power wheelchair. It’s a pretty typical progression,” said Fritz of her family’s experience with the disorder.
But for the Fritz family, and many others, a new drug offers a spark of hope for what is otherwise a certainly fatal diagnosis. Eteplirsen, a drug created by Sarepta Therapeutics, has shown promising signs of slowing, if not halting, the progression of the disease and stabilizing muscle tissue — with little or no adverse affects.
The only problem is that the Food and Drug Administration hasn’t approved it yet.
“Before this, there was no other treatment. Both the boys have been taking steroids since they were diagnosed at five years old, which has been helping them to walk — but it’s in no way a treatment,” said Fritz. “This is different, if we can get it approved it can drastically change the lives of 85 percent of people with Duchenne.”
Eteplirsen is currently being tested on 12 boys and has been in trials for just about two years. So far, children taking the drug have seen dramatic improvements with no adverse effects. But the FDA wants to see large-scale, phase three trials before allowing wider access to the medicine.
However, with a disorder that progresses as quickly as Duchenne, many parents feel it’s extremely important to get it approved as promptly as possible.
“There’s no clear explanation as to why the FDA is dragging its feet,” Fritz said. “It’s a way to change our children’s diagnosis from what is otherwise certain death. And every day there’s no treatment available, children with Duchenne are getting sicker and dying.”
And Fritz isn’t alone in pushing for the drug’s rapid approval. She’s just one member of a group of parents who are doing whatever they can to motivate the FDA into action. These parents feel that Duchenne meets the requirements of the recently approved FDA Safety and Innovation Act of 2013, which allows the FDA to accelerate approval for drugs treating rare diseases.
And these parents aren’t sitting idly by. They spearheaded a campaign to get 100,000 signatures on a petition in order to urge the FDA to use the Accelerated Approval pathway to allow wider access to this possibly life-saving drug. And according to the terms of participation on the government’s “We the People” website, should a petition reach 100,000 signatures within 30 days the government will respond in a timely fashion.
“We’re not a group of crazed parents, we’re not willing to try anything. We’re a steadfast group of very intelligent, very informed people who see that Eteplirsen has a perfect safety record,” said Fritz.
For now, the Fritz family is dealing with more than just physical strain associated with having two ill sons. The economical strain is also taking its toll on the family.
“When they were diagnosed, we were told most families go bankrupt fighting this disease. Our goal is to not go bankrupt,” Fritz said. But she and her family have already received an outpouring of support from the community as well as organizations that hope to lessen the strain on her family. Last year, the family’s home was modified by the Happy 2 Be Home organization, which helps families with chronically ill children suitable to their needs. And the family has raised money to cover hospital bills through their website www.hoperocks.info.
“It’s hard not to help once you understand. People are loving and generous. People aren’t the issue — the FDA is the issue. But I feel like we’re getting closer,” said Fritz.
To learn more about the effort to end Duchenne Muscular Dystrophy, visit TheRaceToYes.org.