Monday, October 15, 2012

A story about Duchenne muscular dystrophy (DMD)

Recently I was contact by a very friendly woman from Jett Foundation, which is a non-profit 501 (c) 3 that works to find treatments and a cure for  while improving the lives of those affected by DMD. She was telling me that recently, there has been a clinical trial that is geared towards finding a cure for Duchenne and that this clinical trial is huge and can really make an impact for this terminal illness. She was reaching out to me to see if I could possibly inform you, my readers of DMD and to share one heart felt story of this disease and how, because the treatment in this clinical trial was on for certain candidates, it affected one family.  They are hoping that the more people who know about the clincial trial can cause positive actions can take place sooner.  If after reading this heart-felt story you feel compelled to know more or know how you can get involved.  You can read their website at: and or get in contact with Christine McSherry, the founder of the Jett Foundation and the Duchenne Alliance at for more information.

Here is the story:
What would you do if you had the chance to save one of your son’s lives, while watching your other son die? Unimaginable. Jennifer is a loving mom, two of her sons have duchenne muscular dystrophy, and this is her real life.
Austin was born a healthy, happy, and beautiful baby, He has grown up independent, inquisitive and with an amazing sense of humor. Austin is resilient, brave, and an amazing friend. He adores his baby sister, and fights with his brothers. In his bedroom you will find collections of everything from postcards, pokemon cards, erasers and even a giant ball of masking tape, because he is a quirky kiddo. He used to walk on his own, but now uses a wheelchair to get around. Austin is 13, loves calamari, hates beans and is dying of duchenne muscular dystrophy. Max was born deaf, but over came that with nothing short of a miracle recovery. Max is obsessed with monkeys, the color orange, and would eat salad three meals a day if he could. He struggles in school, but laughs anyway. The kid can take a needle or surgery, but he cries if he has a tag in his shirt. For the past 50 weeks Max has been part of a clinical trial taking a lifesaving drug infusion every week, and is able to run, jump and play like never before, even though he has duchenne muscular dystrophy. He and Austin both have the same genetic mutation, but the trial was only for boys who are still able to complete a walk test (to gauge how well the drug works). Jennifer has watched Max get progressively better these past 50 weeks, but at the same time has watched Austin become weaker. How do you celebrate one child’s progress while your other son is doing the opposite?
The drug infusion Max is taking is called, Sarepta Therapeutics RNA-based exon skipping compound, Eteplirsen. Data released by Sarepta’s CEO, Chris Garabedian, provided evidence that their lead candidate demonstrated a large increase in Dystrophin-positive fibers, to 47% of normal on average, for the boys who were on the drug the entire 48 weeks of the trial. It was apparent that there was an increase in Dystrophin-positive fibers the longer the participants were on the drug. Lack of Dystrophin is the underlying cause of Duchenne muscular dystrophy. The other endpoint that Sarepta announced was significant clinical benefit on the 6-minute walk test. The boys treated in the trial, all but two of them who became non-ambulatory during the trial, walked for longer distances. The key is administrating the drug on time, before it is too late.
What does this mean? It means that the course of this disorder can be modified by a compound. It means hope. Eteplirsen opens the doors for other exon skipping compounds. Eteplirsen sets the new benchmark for Duchenne therapies and signals to researchers in academia and pharmaceutical and bio-tech companies that Duchenne is an alluring area where significant need exists and massive gains are possible. Now, more than ever, we need to work together to maximize our influence and impact. This is an urgent call to action to save our children; so mothers like Jennifer will never have to experience the bittersweet emotions she is facing. Now is the time to be united, “United to beat time.”

1 comment:

  1. What a horrible dilema! I wouldn't know what I would do if this was our case. I hope everything works out wonderfully for that family, and may G-d bless them and keep them all safe.



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