On this International Rare Disease Day, let’s talk about muscular dystrophy and the Dion Foundation. Muscular dystrophy is a degenerative neuromuscular disease that causes increased muscle weakness over time. The symptoms of muscular dystrophy can begin early in childhood, with many children wheelchair-bound by age 15. Could you imagine one of your children being diagnosed with this disease? Even worse, what if two of your children received this diagnosis? This unimaginable situation happened to the Dion family less than one year ago when two of their young children were diagnosed with limb-girdle muscular dystrophy (LGMD) 2C.
What’s so impressive about the Dions is that they have channeled their love and concern for their children into the Dion Foundation. The Dion Foundation is a non-profit organization that seeks to raise awareness of rare disease and funding for scientific research for treatment and cures. Here’s more about LGMD and the Dion Foundation, and how you can get involved.
Check out a presentation that my husband, doctor of educational leadership and science teacher extraordinaire, created about LGMD 2C and the Dion Foundation!
The fourth most common type of muscular dystrophy, limb-girdle muscular dystrophy is caused by a rare combination of recessive genes and is estimated to affect about 16 people per million. LGMD has at least 34 different variants. The Dion children have LGMD variant 2C, which is considered an ultra-rare disease as only 0.12 people per million are estimated to have this type of disease. Unfortunately this means that LGMD2C, along with many other variants of LGMD, do not yet have any treatments available or even any clinical trials of possible treatments. Creating new treatments takes years of preclinical and clinical research, so the time to start is now.
Although this Brain Pop video is about a type of muscular dystrophy called Duchenne, the basic scientific and genetic information is very similar to limb-girdle muscular dystrophy.
The Dions are using their efforts and voices to push for fast-tracking this research for LGMD2C and all other ultra-rare diseases. My heart truly goes out to them. It is so difficult to witness a loved family member struggling with a progressively degenerative disease, as I have experienced with my dad’s struggle with Parkinson’s. Just as I have found strength from doing what I can to help science find better treatments and cures for Parkinson’s, like participating in the PPMI study and urging Congress to pass important legislation that centralizes and supports scientific research, I know that their efforts at the Dion Foundation are bringing them a sense of purpose amidst the turmoil.
You can follow the Dion family’s journey on their Instagram at @thedionfoundation, and you can donate to the Dion Foundation to support scientific research for rare disease. Personally, I am very proud to be supporting their 90-year family-owned business, Dion’s Fine Wines, as all their net profits from 2023 are going to the Dion Foundation!
Thank you, the Dion family and the Dion Foundation, for making the world a better place!
Update, March 31: Here’s the first edition of the Dion Foundation newsletter!
Follow the Dion Foundation’s Instagram for more updates.