Our Family

In August 2017 we welcomed our second child, a beautiful baby boy with a full head of hair and the sweetest demeanor. Our family of four flourished, but at 2 years old, our silly munchkin, started walking with a toe pointed inwards. We called in a physical therapist to see if we needed any type of corrective measure. After observing Wesley, the therapist mentioned his Gower's stance, a way in which a child stands from the floor by pressing on their knees. We went home and started researching causes...Muscular Dystrophy.

 

We called our doctors in panic and they immediately assured us that our son certainly did not have classical muscular dystrophy, but they would investigate other forms. December 2019, while sitting in the parking lot of Disney World the genetic results came in, Collagen VI-related dystrophy, a rare form of muscular dystrophy. Our hockey loving, light-saber swinging, Mr. Incredible superhero loving boy would stop walking and potentially need breathing assistance. 

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For months tears devoured us.  Immediately we were unable to give our son one of his basic needs, health.  Try as we might we could not contain our pain and worry, how will losing mobility and strength affect every aspect of his life? The joys of life not even related to muscles, friendship and love, will all these be harder for him? 

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At work, I could not help but spend days reading all the scientific literature, the little there was. After absorbing every article and tidbit of information I could find, a ray of hope entered my world. I had spent my entire life preparing to be able to read all those articles and understand every single point. I had received my PhD in Biomedical Sciences at the leading Cancer Research Hospital in the World. After, a few years studying cellular signaling in cancer, I decided to switch fields and train in genomics at the best institution in the world. There I sat in my office, able to email every relevant researcher in Collagen VI-related dystrophies I could find and discuss the gaps of knowledge in fibroblast biology and RNA silencing technologies.

 

My husband had an engineering degree, and was able to help contact every robotics specialist we could find and discuss the barriers to developing batteries light weight enough to afford mobility to these children. I spent my adult life preparing to try and cure cancer, or was it all so that I could cure this little boy and make his ray of light all that much stronger?

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The science is here, personalized medicine is changing lives, RNA technologies have reached the forefront of even the largest pandemic in our lifetime. We can cure Collagen VI-related dystrophies, but awareness and funding is needed. Please help us, rare diseases do not need to be pushed aside as irrelevant. They are worth investing in, every child we make stronger we develop science that can be applied across human health.

 

We hope with this charity we find strength in weakness and develop tools and science to bring strength to the world.

 

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Sincerely,