by Audrey Elliff
about the author:
Audrey Elliff is 21 years old. She was the first person in her family diagnosed with the DMD mutation. She is also the first manifesting carrier in her family.
Mother-Daughter Carriers – Part 1
My name is Audrey Elliff, I am 21 years old. My story is definitely different than most that I’ve heard about DMD.
When I was 18, I was a normal healthy happy teenager, hanging out with friends and working as a CNA and doing my favorite thing – which is taking care of others. I’ve always felt my heart skipping beats but was told by my cardiologist that it was normal for a skinny young female to be able to feel.
Then around the summertime, I had my first ER visit for chest pain. It felt like I was having a heart attack while I was at work. On the first visit, there were no tests run and the ER doctor thought I was doing drugs or had an eating disorder, then discharged me.
It happened continuously for about two years. With every test run, there were no answers except a really high troponin lab. This was emotionally hard. I was trying to live a normal life still, and trying to be my normal self – but with an ER trip every other week.
I went to the heart failure clinic near me and had the genetic tests done, but I was thinking nothing would come up because nothing on any other test had come up. While waiting for those genetic test results we went to a checkup with my cardiac rhythm doctor, who started talking about the genetic test results unaware I had not received them yet.
Emotionally I was scared – not knowing what DMD was or how it was going to affect me or my life in general. I immediately started to cry and just couldn’t compose myself because of how the information was delivered to me. Then I got a call from my cardiologist, who spoke more in-depth with me about my test results. That call did ease my mind just a little bit.
A couple of months after finding out, I went to Mayo to see if they could find out what was wrong with my heart. They finally got a diagnosis from an awake heart catheterization, which was one of the worst experiences in my life. They found out that I had cardiac vasospasms which they said didn’t correlate to my DMD gene.
I also got referred to a muscular dystrophy specialist who is the best doctor I could ask for. She actually listens to me about my pain and tries to get every med I need and also tells every other doctor what I need and exactly how I need it.
She did diagnose me with exoskeletal muscular chronic pain, which I go to physical therapy for twice a week. She was very surprised with my case because normally it’s found from having a child with DMD – which was not the case with me or my mom. I feel like I do have a lot of stuff to still figure out with my genetics and how to manage my heart problems.
I’m very happy I get to share this story with a group that can hopefully benefit from it. It’s hard to share my story but if I know that it can benefit someone else, it makes me happy to share.