Over the weekend I celebrated rare disease day. It is a day that many of us “rare” people like to acknowledge and celebrate. An opportunity to raise awareness.
What are we celebrating? Why do these days matter?
When living with a rare disease, there can be limited information. Drug trials or even a sense that someone out there is fighting on our behalf can feel nonexistent. Many rare diseases will never see a cure, let alone opportunities for treatment.
That can make it hard to harness hope.
It does not stop an army of rare disease patients and advocates from trying. Trying to raise awareness for the forgotten diseases that many do not even know exist.
Take my disease for example. I live with a type of muscular dystrophy called Bethlem Myopathy. While I had heard of muscular dystrophy when I was diagnosed, I had never heard the words Bethlem Myopathy in my life.
Immediately, I set out to find as much information on Bethlem Myopathy as I could. I was starved for answers as to what made me “tick.” I needed to know, what exactly goes on inside of my body that makes my muscles so weak.
It is estimated that fewer than 5,000 people in the United States live with Bethlem Myopathy.
Not only did I need to know, but I deserved to know. We all deserve to know answers to questions about our health.
My search resulted in a very lackluster explanation, and I felt like half of the symptoms did not even apply to me. Some did, but once again I doubted that I had finally found the answers I was looking for.
Thank goodness for genetic counselors. I was so fortunate to have one of the most patient and caring genetic counselors. No matter how many questions I asked her, she never made me feel silly or like I was bothering her. Genetic lingo is hard to understand.
Still, I did not feel totally satisfied. I then began to search online for “my people.” Somewhere along the way, I found a young woman who lives in the “land down under” and has my same diagnosis. Although I am about 25 years older than her, we became fast friends. Figuring out the time difference to chat can be tricky.
I have since met many others, and have made some deep connections, including one woman who I refer to as my soul sister. Many are here in the U.S. with some in other countries who live with Bethlem. I have also joined some groups created for my specific disease. There is no greater wealth of knowledge than the people living day in and day out with the disease.
Photo provided
I shared a quote on my social media on rare disease day, and it warmed my heart to see that it resonated with many in my rare community. I remember when I was first diagnosed and I read things written by people like me. It was as if they were inside my brain and pulled their words directly from my lived experiences.
Knowing I can now do that for someone else means the world to me.
This is what I shared …
I didn’t choose rare. It chose me. Living with a rare disease for 51 years has been a complicated mix of constantly juggling wanting to give up and wanting fight like hell to live my life to the fullest, before it’s too late. It’s wondering what the day will bring each day for my body. It’s pressure to perform a perfect 10 routine every day, so I don’t mess up and have a devastating fall. Each step carefully calculated. It’s using my wheelchair for things I could do on my feet not that long ago. It’s a constant state of grieving loss. It’s hard to put into words. It’s sharing vulnerabilities that are tough to share, so that others in my same shoes seeking validation can find it.
Until next time …
Amy Shinneman is a former National Ambassador for the Muscular Dystrophy Association, disability blogger, freelance writer, wife, and mom of two boys. She is the recipient of the Reporter’s Winter 2025 Ink-Stained Wretch award. You can find her blog at humblycourageous.com and reach her on Instagram @ashinneman.