Facioscapulohumeral Muscular Dystrophy Awareness Day — even a little about Dux4



Presenting the Proclamation. Photo courtesy of Dan Nolte.

This day, June 20, 2016 we are recognizing  worldwide Facioscapulohumeral Muscular Dystrophy (FSHD) Awareness day.  Why, you might ask?

Muscular Dystrophy causes the progressive deterioration of the muscles in the arms, back, legs and face, often robbing its victims of their health and independence.

Overview-body_FSH-front_0

Muscles impacted by FSHD. Photo courtesy of the Muscular Dystrophy Association.

Most people who are affected by FSHD are unable to lift their arms for more than a few seconds, many lose the ability to show any facial expressions, and some experience serious speech impediments. About one-quarter of those with the disease eventually become confined to a wheelchair.

There is no treatment or cure yet, but research pioneered in Seattle at the University of Washington, Seattle Children’s Medical Center and at Fred Hutchinson Cancer Research Center in the last decade is pointing the way.

What we know is the core problem stems from a genetic disturbance in Dux4.  Dux4 is a coding protein gene.  This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q.

Dr. Dan Miller from UW and Dr. Stephen Tapscott from the Hutch have been leaders for years. They are world leaders in researching the path to a treatment and cure. Many of the men and women doing this groundbreaking research joined us in chambers today.

I have a personal stake in this.

Terry and Rick Colella June 20 2

Terry and Rick Colella, June 20, 2016. Photo courtesy Dan Nolte.

In addition to the researchers, I want to recognize Terry  and Rick Colella from Kirkland.  They created the Seattle-area not-for-profit Friends of FSH Research out of their home in 2005.  See FSH Friends website and video here.  Their son has FSHD.

They are devoted to this cause, and have raised over $3 million through friends and auctions to support this leading research locally and neurologists’ laboratories nationwide as well.

Thanks to all who were in the audience and their many colleagues, the precise genetic causes of FSHD are now known, and the half-million people who are challenged with the disease, and their family members, now have realistic hope for a cure. I share this hope — my husband, Brad, has FSHD.

Unite to find a cure for FSH logo (Australia)

Logo from FSH Australia that started the world-wide FSHD recognition day.

Awareness of the devastating effects of this disease and of the promising research done in Seattle and elsewhere will spur efforts to pursue a treatment and cure.

The City of Seattle is proud to join the nation of Australia and other governments and  institutions worldwide in proclaiming June 20, 2016 FSHD Awareness Day.

 

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