Desmin Myopathy

Last updated: January 2022

I was afraid to talk about it out loud because I didn't want to accept it. Do you ever notice when you find out you're diagnosed with something the symptoms start getting worse? Maybe it's just me.

Peace and acceptance

I feel when you accept things a peace comes, but it's also a battle of denial - of just not wanting that problem to exist. You go back and forth in your mind asking why, when, and how? That was my experience, and if I am transparent, I still battle with it.

Most days I put it in the back of my mind because I can't always handle the reality of it all. Some days I become numb to it because I need a mental break processing whatever information I'm given at that moment.

What I could handle

I can remember a doctor visit I attended and I was so mentally unavailable because the more the doctor talked, the more I shut down, especially because already dealing with the rollercoaster of heart disease. I lived my life overcoming the challenges of heart failure and that led to a heart transplant. Anything after that I felt like I couldn't handle.

Some history

Just to give you a little history, it was the most confusing thing to figure out why I had heart problems and where they came from. I didn't have a family history of it, I was and still am the only family member with heart disease. From the age of 12, I lived with a question mark over my head with no real answer from doctors where it came from.

I was diagnosed with hypertrophic cardiomyopathy at 17 years old from having a heart murmur. At times the doctor would ask me how I ended up having hypertrophic and because I was never given a real answer I couldn't give one in return.

Desmin myopathy

Early this year it was confirmed that I was diagnosed with desmin myopathy. Desmin myopathy is a recently discovered disease linked to mutations in desmin or alphaB-crystallin. Typically, the illness presents with lower limb muscle weakness and spreads to different parts of the body.1

I am emotional and processing it as I write this article. Finding this out was a horrible day for but it became bittersweet. Sweet because the question mark I had over my head all those years was finally erased. The doctor explained to me that this was a disease that either came from my mother or father, or it could have happened when I was conceived.

Making the best of it

I had no trace of it until I turned 12 years old and because it weakened the muscle (my heart being a muscle) it affected my heart, causing me to have a weak heart that started with a murmur, then heart failure, then a transplant.

It finally all came together as to why my heart got sick in the first place and my life took that turn. Today I'm making the best of it, staying positive, and living my life the best I can.

By providing your email address, you are agreeing to our privacy policy.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The Heart-Failure.net team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

Join the conversation

or create an account to comment.

Community Poll

Have you had a heart transplant?