A long time coming

As my trip to Sydney, Australia, for the Sydney marathon gets closer, so does my excitement to meet someone “just like me” for the first time.

My Australian friend Rhi, who I have known through an online friendship for six years, is traveling to Sydney from her hometown that is about eight hours away. It will also be her first time meeting someone with her diagnosis.

So many things are running through my mind. I already know it will be emotional not only for the two of us, but for my husband as well as Rhi’s parents. Just as we have gone through life, never having met someone with our same diagnosis, neither have they.

Most of you do not share my same story of having a disease so rare that it takes 52 years to meet someone with the same diagnosis. There are a lot of things that happen when living like this.

The isolation that I have felt going through life where everywhere I look, no one is like me, can be hard to explain. It is not to say that others do not feel isolated for other reasons, but the unique experience of living with a rare disease, can lead to feelings of loneliness that are as rare as the disease.

I remember searching everywhere for someone like me as I was growing up. I was desperate to see someone who walked like me, wore leg braces, or had big scars that went up the back of their legs and on the sides of both ankles. Or someone that struggled to climb the stairs like I did or walked at my same pace.

Someone else who sat on the sidelines during gym class or missed periods of school because of therapy or surgeries. Or who wore casts for months during summer breaks, often missing the fun because summer was a suitable time for me to have surgery and not miss school.

Someone who saw me and did not think that I was different, because I was just like them.

Obviously, I am still searching. What strikes me as I think back on my searching as a child is how full of hope, I was. I felt it in my heart that there was someone out there, just like me.

There were periods of hopelessness, sometimes short, and sometimes long. But hope always returned.

My friend Rhi is also a writer and as I read her writing, I am often blown away at how closely her words mimic my feelings that I have never been able to fully relay to someone who does not share my disease. The parallels in our lives, at times, shock me.

To be clear, I have met people living with muscular dystrophy, but not my specific type. Even with Rhi and me, the ways our disease presents itself in each of us seems to be different, but also so similar.

I hope that meeting Rhi fills that gaping hole I have carried with me throughout my life.

I asked her if she would like to share a few words about what this meeting face-to-face means to her. She said, “Living in Australia, Muscular Dystrophy is a disability that not many people have heard of. There are roughly around 41,000 of us, but that number is even less for people with Bethlem and Ullrich MD. Finding Amy was the best thing that happened to me, thanks to the power of social media. We have been able to share our struggles as well as our breakthroughs together. We have been wanting to meet for the past 6 years, but living on opposite sides of the world makes things difficult. Once Amy told me her and Jamie were coming to Sydney for the marathon, I knew I had to go. She has made me feel less alone living with Bethlem/Ullrich MD and more optimistic about the future. Being able to finally meet in person means a lot and fills me with so much excitement. I can’t wait to cheer her and Jamie at the finish line!”

I will do a follow-up on this meeting when I return from The Land Down Under.

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.org and reach her on Instagram @ashinneman.