Local family hopes rare disease awareness will bring them a cure

NATICK, Mass. — A local family has been impacted by a mysterious illness for four generations with no cure.

The youngest member of this family with this rare form of muscular dystrophy is hoping a YouTube video will bring about awareness of the disease for her loved ones and others.

“Fascio scapio humeral dystrophy is a form of muscular dystrophy that effects the muscles in your face, scapula and your humerals,” said Lexi Pappas.

Natick's Lexi Pappas was diagnosed with the disease in seventh grade. Her mother, grandfather, and great grandfather all had it and Lexi says the symptoms of this rare form of muscular dystrophy worsen through the generations.  Little is known about the disease and many have never even heard of it.

Lexi decided she wanted to change that.

"Over time your muscles deteriorate and sometimes they even just disappear,” said Pappas.

A budding filmmaker, Lexi recently posted this documentary on YouTube.

She's hoping to highlight the toll FSHD takes and what it takes to overcome life's obstacles.

“I want people to know that we're hopeful and we're trying and we're not just sitting back. There's so many people with FSHD who do incredible things every day,” said Pappas.

Right now, there is no cure for FSHD.  There are few effective medications for the pain it brings.  And there are conflicting opinions on a course of treatment, but Lexi hopes awareness will bring research and research, a cure.  And she hopes her documentary will help in that effort.

Cox Media Group