This Time It’s Personal – Fighting Muscular Dystrophy

Facioscapulohumeral muscular dystrophy, or FSHD, is the most common type of muscular dystrophy. It is caused by a genetic defect that interferes with muscle regeneration.  Why do I care?

Changes in chromosome 4 are linked to many genetic human conditions, including facioscapulohumeral muscular dystrophy, which results from a deletion of genetic material from a region of DNA known as D4Z4.

The major symptoms of FSHD are the progressive weakening and loss of muscles in the face, shoulder and upper arms. The disease then often progresses down to the abdominal and leg muscles.

Initial signs of FSHD include difficulty reaching above the shoulder level, foot drop, scapular winging and facial weakness.

FSHD affects about one in every 14,000 people. It is a progressive disease, it gets worse with age.  Doesn’t  sound good.  But… Why do I care?

On the right is neurologist Dr. Stephen Tapscott, of Fred Hutchinson Cancer Research Center. His lab researches cell therapies for muscular dystrophy.

Last week my husband Brad and I hosted an event where a number of doctors from Fred Hutchinson and the University of Washington spoke about their FSHD research.

They spoke to our guests Jason, Catherine, George, Brian and their families.  They also spoke to Brad… and to me.

Brad and several others in the room have FSHD.  It’s degenerative, and the researchers are dedicated to finding a treatment that will arrest the problems.

At present there is no treatment, but it is a time of great hope for those with the disease. In 2010 researchers identified the gene that causes the disease, so for the first time researchers can look for a drug that will slow, or perhaps even reverse it.

For me, there’s good news: FSHD does not affect the brain.  Jason is a computer engineer, Catherine is a teacher, George is retired from Microsoft, Brian is an editor, and Brad is a lawyer and a novelist.

More good news: The researchers are supported by the local Friends of FSH Research, a non-profit founded by the family and friends of Brian Colella, a young man who was diagnosed with FSHD in 2004. Their mission is to impact the lives of people affected by FSH Muscular Dystrophy by financially supporting FSHD research in search of a treatment or cure.  The University of Washington is an international leader, once again.

Friends of FSH Research-supported pilot studies have resulted in NIH awards to Dr. Tapscott’s lab in Seattle and Dr. Michael Kyba’s in Minneapolis, as well as grants from the Muscular Dystrophy Association (MDA) to Dr. Dan Miller and Dr. Joel Chamberlain in Seattle.

The total investment by the Friends of FSH Research locally has been approximately $800,000 in pilot funds since 2005; the return on that investment is about $10 million for FSH research from the NIH and the MDA combined.

These researchers are connected to others worldwide, and progress is being made.

From left, Terry Colello, founder of Friends of FSH Research, Catherine, myself, and my husband Brad.

Here’s a coincidence:  My son Pete Tenney in Brooklyn, New York, recently met the radio play-by-play man/broadcaster voice for the NBA Brooklyn Nets, Chris Carrino.  Chris has FSHD too, and is raising money for research.

Pete did a short video for Chris and spotlighted Chris’s fundraiser.  Here’s Pete’s video. (You’ll have to scroll down and click on the cheerleaders once you get to the site…)

Stay tuned for research results – this is one disease I am determined to see eradicated.

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