Making our voices heard

#Diagnosis, #loss, #muscular dystrophy, #Love and Loss, #condition, #Family, #rare, #Parenting, #Duchenne,

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.

_{Joeanne (right) with her daughter Farah and son, Zac.}

_{Joeanne (left) with her daughter Farah and son, Zac.}

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.

Written by Joeanne Smith.