Mother starts petition drive to push FDA to allow drug for treatment of Duchenne Muscular Dystrophy
She knew her sons had always been behind in terms of physical development. They didn’t walk until they were 18 months old, and once they did walk, they had trouble getting up stairs. What she didn’t know, at least right away, is that she is a genetic carrier of a mutation that causes Duchenne Muscular Dystrophy, which is the disorder that affects her 10-year-old boys, Riley and Shay.
Duchenne Muscular Dystrophy is a progressive neuromuscular disorder that impacts one out of every 3,500 boys born in the United States. Symptoms usually appear before age 6 and include an awkward manner of walking, frequent falls, fatigue, difficulty with motor skills, and more. Most patients are wheelchair dependent by age 12.
Shay and Riley are fourth-graders at Elva Lynch Elementary, and Simeneta said they stopped walking about a year ago — difficult timing because her other son, Paxton, was learning to walk as the twins were losing their ability to do so. As a carrier, there is a 50 percent chance that Simeneta will pass the disorder on to a son, and Paxton does not have it.
“He was starting walking and they were stopping walking,” Simeneta said. “I didn’t want to praise him too much because they were going in opposite directions.”
As the twins grow and their disorder becomes progressively worse, Simeneta explains to them what’s happening, but there is one thing she doesn’t focus on — the prognosis for people with Duchenne Muscular Dystrophy isn’t good. In fact, the average life expectancy is only around 25. It’s the leading genetic killer of children, and has a 100 percent fatality rate.
As a mother, what can you do with that?
Well, Simeneta maintains you just go on with your life as best you can, adapting as things change.
“You don’t really have a choice,” she said. “It’s hard, but the way it progresses, you just kind of go with it.”
But there is something that has given her a glimmer of hope: A drug called Eteplirsen, which has been in clinical trials for two-anda half years, and in that time, has been found to increase dystrophin, in some cases keeping the disorder from progressing and even in some cases mild improvements have been documented. However, though the study was favorable, with absolutely zero recorded side effects, the powers that be want larger and longer-term studies.
However, there is a drive to get accelerated FDA approval for Eteplirsen, but time is running out. They need 100,000 signatures on a petition by March 29 to get White House attention on this matter, and at press time, more than 63,000 signatures were still needed.
Simeneta posted a link to the petition on Growing Up Lapeer on Facebook, with these words: “I’m asking everyone to sign and share this petition so these kids can be the first generation with Duchenne to live!”
For Simeneta, this drug feels like her only hope for her sons’ survival.
“When they were diagnosed, it was like, they’re not going to make it. There’s no cure,” she said. “I don’t have any other options right now. They already have this bad outcome. It can’t get any worse.”
The link for the petition is www.theracetoyes.org/, and a whitehouse.gov account is required. It takes just a minute to enter your first and last name, ZIP code and e-mail address, and then click a confirmation link in your e-mail to sign.