First-ever

Recently, I was invited to be a part of something new. Something close to my heart.

I live with a type of muscular dystrophy called Bethlem Myopathy. Bethlem Myopathy is caused by a mutation in the collagen VI gene. These genes affect a protein called collagen VI, which is responsible for keeping our muscles strong and flexible. It is a rare disease, progressive in nature. It causes issues not only with muscles but also affects the joints, causing stiffness and contractures, which can be painful and disruptive to functionality.

Collagen VI disorders affect strength, movement, and independence.

Living with dignity is of utmost importance. That can be hard to do when living with a disability. It is hard to convince those around you that while you may not be independent in a few areas, that is not a blanket statement for our lives.

June 6 was the first-ever World Collagen 6 Awareness Day. Being asked to create an informational video, to bring awareness to this overlooked rare condition, was an honor. It was not that long ago, that even though this lived in my body for the entirety of my life, I was introduced to this disease. I am still learning more about it all the time.

My video that I made in collaboration with the Muscular Dystrophy Association was shared all around the world. Getting messages from others who live in different countries as well as my own, was emotional for me.

Some of the most heart-warming messages I have received are from parents of children living with Bethlem Myopathy. It gives them hope to see someone my age, and the life I have created right along with my disability.

I realized how far I have come, and what it looks like to put myself out there, with the goal of reaching and helping others. Each of our stories matter to someone!

Living with a rare disease, that gets little to no attention because it is so rare, you can feel lost, alone and forgotten about.

That is why these types of awareness days are so important. This day highlighted members form our community sharing their stories. Showing our strength is about more than just muscle strength.

Living with muscle weakness, every activity throughout our days takes more energy than those who do not live with muscle weakness. This is a challenging way to live but showing how we learn to live well along with our condition is so empowering and important.

The sense of community erases the loneliness. It is not only helpful for those of us living with the condition, but for our families as well. That is something my family never had, and it was hard on each of us in our own way.

What I have learned through my diagnostic journey and finally having a group people “just like me” to connect with, is how powerful community can be. This applies to all of us, no matter how we live. We all need community as a sense of belonging and having value to add to the world.

Having a community to discuss concerns, hardships, triumphs, and ways of adapting with, has been incredibly powerful and motivating.

Living with a rare disease, it is easy to drown in a sea of anxious and scary thoughts, not knowing what is going on inside of my body. Now, connected with this community, I hear stories of others who are dealing with exactly what I am. That is comforting beyond words.

It thrills me to think about the number of connections made on the first-ever World Collagen 6 Awareness Day. I am so grateful to have been a part of this day.

Find your community and immerse yourself in it. There is so much to gain and so much to give when surrounded by our “perfect fit” community.

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. You can find her blog at humblycourageous.com and reach her on Instagram @ashinneman.