Duchenne Muscular Dystrophy – The Disease

Duchenne Muscular Dystrophy is the most common fatal genetic disorder to affect children around the world.  Children with DMD cannot produce dystrophin, a protein necessary for muscle strength and function.  As a result, every skeletal muscle in the body deteriorates.  Although Duchenne is the most common fatal genetic disorder to affect children, there is no cure.

For the moment, Charley is an active, athletic child who adores baseball, soccer, and snowboarding in the backyard.  While the disease has yet to show its devastation, the stark facts about DMD are hard to believe:

 

  • DMD has a 100% fatality rate.
  • Most DMD kids die in their late teens or early twenties.
  • Most boys with DMD are in a wheelchair, most between 10-12 years old.
  • DMD is associated with respiratory failure, heart failure, and debilitating orthopedic complications.
  • Families all over the world are suffering from the effects of Duchenne, the most severe form of muscular dystrophy.
  • Approximately one in 3,500 boys is born with DMD.
  • An estimated 15,000-20,000 children in America are afflicted.
  • DMD affects boys of every ethnicity and geographic location.
  • One third of all DMD cases are the result of random in utero mutation, with no warning before the affected baby is born.
  • Although much is known about the cause and effects of DMD, the current treatment options are extremely limited.
  • Doctors recommend steroids and daily stretching, but these approaches are inadequate.
  • Steroids have been shown to delay the progression of the disease.
  • Steroids are often associated with serious side effects.
  • Much is still unknown about how steroids work.
  • Despite daily stretching, many DMD boys need orthopedic braces and corrective surgery to combat debilitating muscle contractures.
  • Because there is no acceptable universal treatment for Duchenne, many families turn to alternative therapies (nutritional supplements, vitamins, acupuncture).

To learn more about the disease and what causes it, visit The Muscular Dystrophy Association, a large charity that supports 19 different neuromuscular diseases.

 

Tracy and Benjy Seckler

Tracy and Benjy Seckler

Matt’s Promise has enabled us to have a tremendous impact on the pace of therapeutics development for Duchenne muscular dystrophy.

We have initiated two clinical trials for promising medications that are FDA-approved for other illnesses.  One drug could delay and possibly even prevent heart failure in patients with DMD. The second drug could stabilize muscle strength and function and offset the deleterious side effects of steroids, the current standard of care.  We have a third clinical trial lined up and ready to begin in 2012.

In addition to testing repurposed FDA-approved drugs, we are using funds from Matt’s Promise to move promising new medications through the drug development pipeline.  We expect to start a clinical trial for a potent anti-fibrotic compound in 2012.  Two additional treatments that we supported through academic grants are now in the hands of biotechnology companies that will develop these compounds into clinical trials over the next couple of years.

All of this progress on several fronts has only been possible with the significant support we have received from Matt’s Promise.  I feel like Matt is still with us, supporting us with his ever-present smile and his incredible positive attitude.

Parent of a child in the DMD trial

Parent of a child in the DMD trial

“The IGF-1 trial proved very positive for my son Timothy. He grew 1 1/3” in the six months he was on it and his stamina seemed to pick up a bit while on the drug…We are convinced the drug made a difference…Thanks for sponsoring the trial, it was a great experience and it provided something we now feel very strongly about.”

2010 – Michael Budlow and Justin Rothberg: Hoops for Hope

Hoops for Hope

 

It isn’t hard to imagine that dinner conversation at the Wiederkehr-Rothberg house often turns to issues surrounding Matt’s Promise. For a long time, Justin Rothberg has been hearing about the projects funded by Matt’s Promise and its cornerstone project — fighting Duchenne muscular dystrophy.

One dinner conversation revolved around Charley Seckler, the young son of Matthew Wiederkehr’s childhood best friend. Justin learned over the last few years that Charley’s condition is worsening. He learned that there is no cure. He learned the nasty truth about Duchenne muscular dystrophy — that most, if not all, boys end up in a wheelchair by the age of twelve, and that year by year, it robs those afflicted with this dreadful disease of the ability to breathe. Needless to say, the facts jolted Justin into action.

Together with his friend Michael Budlow, Justin created Hoops for Hope, which was born out of necessity. Both boys felt that not only was it important to raise funds to delve into research for a treatment but that it was critical to raise the hopes of the sixty thousand boys who suffer from this deadly illness. On April 18, 2010, an action-packed, fun-filled three-on-three basketball and free-throw contest was held at Millburn High School to support Matt’s Promise’s core mission of helping Charley and other boys with DMD.

“What spawned the ideas was that all of our friends love sports and we have been athletic our whole lives,” Justin Rothberg said. “What better way to raise money and have a good time than to play Charley’s favorite sport — in honor of him!”

This will become an annual event that will have the potential to inform young people and propel them to act in a compassionate and earnest way. Justin and Michael have shown others that people can have an impact, no matter their age or level of experience. Everyone can make a difference. “It was definitely a success, and we will make it a tradition at our school,” Justin added.

2009 – Amy Esralew


2009 — Amy Esralew


In May 2009, we honored Amy Esralew at the Fourth Annual Benefit Concert because of her extraordinary volunteer efforts on our behalf. Amy has worked tirelessly over the last four years giving of her time and energy to boost our success and increase the amount of funds we can award to cutting-edge research. In many ways, Amy is the perfect volunteer, whose love and grace are an example to us all. We have been so grateful to Amy, who stepped forward to take the reins in helping us take a huge step in our fundraising efforts, and we are thrilled to honor her.

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