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Wednesday, March 19, 2014

Twins with Duchenne Muscular Dystrophy NEED YOUR HELP!




When her twin boys were five, Brandi Simeneta, a mid-Michigan mom, was given some life-changing news that was very difficult to hear.

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 six and include an awkward manner of walking, frequent falls, fatigue, difficulty with motor skills, and more.
As the twins grow and their disorder becomes progressively worse, Brandi 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, Brandi 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-and-a-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.

For Brandi, 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.”

Won’t you take just a minute or two out of your life to possibly give these two sweet boys and thousands of others with this genetic disorder a chance to live and thrive? Time is running out, to sign the petition, and sadly, for the current generation of children with Duchenne.

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. It’s that easy.



1 comments:

Brandi Simeneta said...

Thank you so much for posting this! :)Still need a little more than 52,000 signatures!