With Feb. 29 being Rare Disease Day, I felt like it was a good time to talk about rare diseases and what it’s like to live with one. I’ve mentioned in my past writings that it took me 44 years to finally receive a diagnosis for my disease that I was born with.
I live with a disease called Bethlem Myopathy, also known as Bethlem Muscular Dystrophy. It is a rare disease that affects skeletal muscles and connective tissue. Some types of Muscular Dystrophy are quickly progressive, and some are slower in progression. I am fortunate that mine is slower in progression.
The way that Bethlem Muscular Dystrophy affects me is that it causes weak muscles throughout my entire body, with my hips and legs being the most affected body parts. It causes contractures in some of my joints, which was the reason for so many foot and ankle surgeries in the past. The surgeries helped to correct those contractures and enabled me to shed my heavy leg braces. My gait is very labored, and it takes great effort and concentration to walk. It is as mentally exhausting as it is physically.
In the past five years or so, I have started to rely on assistive devices such as a walker, cane, scooter and manual wheelchair. This is due to the progression of disease. I am as active as I can possibly be. I love to exercise in the water, and I am determined to walk as long as I possibly can. Some days it feels like it’s slipping through my fingers, and I can’t stop it. That is a very scary feeling to say the least.
Living with a rare disease can feel very isolating. We don’t have the luxury of mingling with others just like us on a regular basis. It’s estimated that fewer than 5,000 people in the United States live with Bethlem Muscular Dystrophy. It’s highly unlikely that I will just run into someone living with Bethlem MD, or any type of MD for that matter. As a child and into adulthood, all I wanted was to meet someone “just like me.” It was a weird feeling to feel like I was the only one like myself. Everywhere I went, I would search for someone who walked like me.
Finally, after 44 years and some genetic testing of myself and my parents, I got the answer I so desperately wanted and needed. With a name for my disease, I could begin (thanks to social media) the search for someone “just like me.” Through writing my blog and sharing my story, I have connected with people across the world who are “just like me.” What a comforting feeling to know I am not alone.
One of the people I met is a young woman who lives in Australia. We video chat on a regular basis, which is incredible! We share our successes and struggles and feel truly understood. There are also a few people I have met online who live right here in the U.S. I haven’t had the opportunity to meet in person with anyone yet, but I do hope to someday soon.
A very brief explanation for a very complicated life of 49 years. We all have our stories of what has shaped our lives positively and negatively. My rare disease has done both for me. There are a lot of tough days and just downright gut-wrenching moments living with a progressive muscle disease. Watching abilities I once had being ripped away is immensely difficult to process.
There are also many beautiful moments that have come out of this story. So, it continues, finding the balance between the two and living life to the fullest the best that I can. Not always getting it right, but always willing to try again.
Until next time …
Amy Shinneman is a former National Ambassador for the Muscular Dystrophy Association, disability blogger, wife, and mom of two boys. You can find her blog at humblycourageous.com and reach her on Instagram @ashinneman.