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.
Click here for the carrier story of Audrey’s mother.
Thank you both for sharing your stories. This is such a devastating disease.