World Duchenne Awareness Day 2022: #WomenAndDuchenne

Each year, World Duchenne Awareness Day highlights a special theme for further education. This year that theme is Women & Duchenne to raise awareness about females living with ‘dystrophinopathy’ (the spectrum of muscle diseases that are caused by a change in the dystrophin gene), provide information and resources for carriers, and spotlight the female caregiver experience.

We encourage you to share your story as a girl or woman with Duchenne, a carrier, mother, caregiver, partner or sibling of a person living with Duchenne or a woman professionally working in the field of Duchenne. You can write your story and add photos, or record your experience. Publish your story on social media with the hashtag #WomenAndDuchenne to join the global community in raising awareness.

Mariana: My Story as a Carrier with Cardiac Concerns

Fourteen years ago I found out that I have heart failure due to being a carrier of Duchenne. That year had already been extremely challenging. In addition to being one month pregnant with our third child, our oldest son was diagnosed with Duchenne. Months later, I underwent genetic testing at the recommendation of the neuromuscular clinic. While waiting for the results, our new daughter was born. The nurse at the birth center noticed my irregular heartbeat. Genetic testing and a cardiac MRI confirmed that my heart condition is due to being a carrier. 

I have an internal defibrillator/pacemaker and take the traditional cocktail of medicines for heart failure. Two years after diagnosis my heart showed improvement and has been stable ever since. My heart function is below normal, and I’m often fatigued, but if you saw me in person, you wouldn’t know it. I’m able to work, care for my family, and partake in leisure activities. I like to say the doctors find my case boring! However, I’m turning 50 this year and I have concerns for the future. I want a cardiologist with specific experience in treating women with Duchenne. Even though I don’t have a clinic for females with dystrophinopathy nearby, I’m glad to say my connections within the Duchenne community have enabled me to find a qualified local doctor.

I hope my story can help others understand that carriers can have Duchenne-related heart failure and it’s important to get cardiac testing. I feel my good health is because my symptoms were diagnosed 14 years ago. The Duchenne community is strong! It’s an honor to share my story on World Duchenne Day!