Making Our Voices Heard

by Joeanne Smith

about the author:

Joeanne Smith is a manifesting carrier of Duchenne Muscular Dystrophy. She has 2 children. Her son, Zak, died from Duchenne at the age of 16. She is a pillar in our community, full of experience, wisdom and compassion.

Making Our Voices Heard

My Doctors Laughed

Being a foster child, I have never had a family history to see if there are any inherited medical conditions.

From early childhood I was clumsy, had trouble walking (20 months old), I struggled to get up off the floor and unless there was a rail, I couldn’t do stairs.

My mum said that when I walked, I waddled like a duck and she always commented on my footballers legs with the strong calves. (We now know differently.) Because of the way I walked, I was put in built-up shoes and wore night splints from the age of 3. They’re not like the ones today. They were cold, metal uncomfortable things that were awful to sleep in.

Even then Drs still couldn’t diagnose what was wrong with me…when you have doctors continually saying to you “You’re lazy, you’re clumsy. It’s all in your head,” you start to question yourself!! My mum always commented on my “footballers legs” and my big “strong calves” so life carried on with me struggling to walk and run, to climb up stairs and to have cramping in my arms and legs…but thinking the Drs were right.

At 15, I had an x-ray done for scoliosis and it was mentioned in my report that “this patient has some type of Dystrophy.”

Of course, my Drs laughed at this suggestion.

My World Was Destroyed

I went on to have 2 beautiful children, Farah and Zakariah. Life was good until I noticed Zak wasn’t hitting some milestones. So after some testing, my world was destroyed and Zak was diagnosed with Duchenne. I was diagnosed as a carrier. My precious girl is not a carrier.

Life – as we all know – is emotional, stressful and a lot of hard work living with a child with Duchenne.  But I decided early on that my boy was not going to be wrapped in cotton wool. He was going to live a good and fulfilling life and be treated like a “normal” little boy – just one who uses a wheelchair.

I lost my beautiful, amazing son in February of 2011. I assumed we were done with Duchenne. It had other ideas.

Manifesting Carrier of Duchenne

2 years after losing Zak, I got out of my car and I couldn’t walk. I was referred to a Spinal Doctor thinking that was the issue. The Dr was really confused by my symptoms and told me “there is obviously something going on as things don’t add up.”

I was then referred to a Neurologist.

After watching me walk and doing some simple tests, in 20 minutes he was 95% sure he knew what was wrong with me. But he wanted to get my heart, respiratory, a full body scan, an EMG and more blood work done. We got an answer… manifesting carrier of Duchenne.

My heart hurt so badly as I had to tell my daughter… the look on my baby’s face is etched in my memory. 

Making Our Voices Heard

I’m not the type of person who gives up EVER, so this curve ball wasn’t going to hit me without a fight.  It is now several years since my diagnosis and it hasn’t always been an easy road. I have gone from walking, to using a walker, to now being a full time wheelchair user. I have also been diagnosed with Dilated Cardiomyopathy.

I live a wonderful life and I give back to “OUR” community by helping Drs become more aware of the challenges us carriers and manifesting carriers experience. I am making sure that our voices are heard loudly.

I’m more than happy to share my experiences with everyone and maybe give someone some strength on a day that is challenging.

5 Replies to “Making Our Voices Heard”

  1. Thank you for sharing your story Joeanne, what a challenging journey you have been on and continue on. Resilience, strength, compassion and perseverance must be your life companions.

  2. Thank you for sharing about how Duchenne was for you and family. My son was diagnosed in November 2021 he’s 8. He’s able to get around right now. It’s scary. He wears braces at night and we do pt and ot. His name is Scott..

  3. Pingback: Guilt and Blame
  4. Thank you for sharing some of your story with us and helping us that need extra help navigating. My brother was diagnosed at the age of 3. I was tested the first time when I was 7 and found out I was a carrier. When I had my boyi noticed that he was born with his foot off to the side and I had him tested at 2 months of age and sadly he had Duchenne. He was my middle child of 3 and also hd to grow up not knowing who his real dad was because he had passed away earlier that some year our son was born. As for now my other 2 children are healthy. My son passed away August 16, 2021. There is so much to that day that I don’t know what to do. To me, that day was so traumatic, and I believe I suffer from PTSD because of it. I would love to talk to you and see if you could help me through this and help me, was tested again after my son tested positive and found out I’m a manifesting carrier, with getting doctors to listen to me and put me back on the medications that work for me and help with getting my SSI approved.

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