Anything But Rare

I recently stumbled upon a definition of the word “rare” that profoundly unnerved me: “rare — not found in large numbers and consequently not of interest or value.”

As a neurologist for nearly three decades, my colleagues and I in the medical field consider a disease or disorder to be “rare” in the United States if it affects fewer than 200,000 Americans at any given time. By definition alone, each of the dozens of diseases we fight at the Muscular Dystrophy Association — muscular dystrophy, ALS, spinal muscular atrophy, Charcot-Marie-Tooth’s disease and many others that take away everyday abilities like walking, running, jumping, hugging and even talking and breathing — are considered rare. However, unlike the definition above, these diseases are of utmost priority and value for MDA to find treatments and cures.

For the courageous families who are living with and fighting these debilitating diseases every day, neuromuscular diseases are anything but rare.

Families like the Blakes. Patty Blake, 58, was diagnosed with ALS in 2012 and is now in the advanced stages of the disease, unable to stand or use her hands. She uses an eye-tracking communication device as well as a word board and head-mounted laser pointer to communicate.

“We attended our first [MDA support group] meeting in early 2013, and we rarely miss the monthly meetings. Connecting with other ALS families has meant the world to us. We have made some of the best friends through the group. It really makes a difference when you know you are not alone.” — Patty Blake

The Nolan family is another inspiring family who may share my restlessness with that definition of the word “rare.” Their daughter Lexi has Charcot-Marie-Tooth disease (CMT).

“Until attending MDA summer camp, Lexi wanted nothing to do with her disease. It felt like she was in denial. During that one week of camp, she was no longer ‘the physically handicapped kid’ and she realized for the first time that CMT does not define her. She came home wanting to know everything about CMT — and she wants to help others understand, too.” — Keia Nolan

Lexi has since become MDA’s Goodwill Ambassador in Arizona, representing individuals and families living with neuromuscular disease and playing an essential role in motivating the public to take action.

MDA was created for families, by families. The world may consider neuromuscular diseases rare, but today, as we urgently focus on accelerating treatments and cures, they need more attention — and action — than ever.

Saturday, February 28 is Rare Disease Day. I urge everyone to join us in taking action NOW to help support the more than 30 million Americans affected by a rare disease including MDA families fighting neuromuscular diseases today.

Here are 3 easy actions you can take now:

  1. Participate in your local MDA Muscle Walk. Find a Muscle Walk near you, create a team and sign up at Walk alongside your neighbors who are living with challenging neuromuscular diseases and fundraise to help them get stronger and live longer.
  2. Buy a shamrock this month at local participating stores in your community. Every February and March, retailers such as Lowe’s, CITGO, Albertsons, Applebees, Burger King, Walgreen’s, Pizza Hut, KFC, Taco Bell and many others will be selling paper shamrocks at check-out for $1, $5 and larger contributions. Every shamrock will help us conquer muscle disease. Celebrate Shamrock season here.
  3. Spread the word. Share your passion and urgency for taking action against muscle disease by encouraging your friends and family to join you on social media and by email. You can use these social media posts and badges to raise awareness and encourage action.

Thank you for turning hope into action. For every child, parent, wife, husband, sibling or friend fighting a “rare” neuromuscular disease, we thank you.

Valerie A. Cwik, M.D.
Executive Vice President & Chief Medical and Scientific Officer
Muscular Dystrophy Association