Rare Disease Day, February 28th

Friends of FSH Research

Kirkland, WA— When Terry Colella’s 16-year old son was diagnosed with a rare disease that had no treatment or cure, she decided to take action and today their non-profit, Friends of FSH Research, will take part in a global movement to raise important awareness for Rare Disease Day®, February 28.

As a 16 year old avid athlete who rowed crew, played soccer, basketball, and baseball Terry’s son dreamed of playing for the Seattle Mariners or competing in the Olympics like his father, Rick (‘72 & ‘76 Olympics, bronze medalist) and aunt, Lynn (‘72 Olympics, silver medalist). However, since being diagnosed with Facioscapulohumeral Muscular Dystrophy (FSHD) in 2003, he has lost his ability to play the sports he enjoyed as a teenager or even raise his arms above his shoulder.

Because FSHD is a progressive neuromuscular disease, it often leads to patients needing to use a wheelchair and requiring physical assistance to care for themselves. For Terry Colella, this was a call to action, “This is my son, whom I love with all my heart. I couldn’t sit back and do nothing; I couldn’t just wait.”

Since starting Friends of FSH Research in 2004, the small non-profit has funded over $3.1 million in FSH research, all through donations. With studies locally at the Fred Hutchinson Cancer Research Center and the University of Washington, as well as worldwide, Friends of FSH Research is giving hope to the half million+ people living with the disease globally.

According to the National Institutes of Health (NIH), a disease is rare if it affects less than 200,000 Americans. One in 10 Americans have a rare disease—nearly 30 million people—and nearly half of these patients are children. For the 7,000 known rare diseases, there are only about 450 FDA-approved treatments.

Rare Disease Day takes place every year on the last day of February —the rarest date on the calendar— to underscore the nature of rare diseases and what patients face. It was established in Europe in 2008, in the US in 2009, and is now observed in more than 80 nations. For more information and to join local efforts to fund FSHD research through Friends of FSH Research, visit www.fshfriends.org. Or visit http://rarediseaseday.us/ to learn more about Rare Disease Day.

– Friends of FSH Research

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