12/06/2021
Welcome to my Page. I created this page to gain awareness towards Congenital Myasthenic Syndrome or CMS.
Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction, and it falls under the Muscular Dystrophy family of diseases. The effects of the disease are similar to Lambert-Eaton Syndrome and myasthenia gravis, the difference being that CMS is not an autoimmune disorder. There are 600 known family cases of this disorder and it is estimated that your chance of having it is 1 in 200,000. There are several different subtypes of congenital myasthenia, each the result of a specific genetic mutation. Genes that are most commonly associated with CMS include: CHAT, CHRNE, COLQ, DOK7, GFPT1, and RAPSN. Since all types of myasthenia are due to the inability of nerves to trigger muscle activity, they all involve weakness, although there is some variability in the specific muscles affected.
My family is one of those families. My 8 year old son was diagnosed with CMS DOK7 last year. On the outside looking in, he appears to be a "normal" boy....he plays baseball, swims, rides bikes and goes to school. What people don't see is the pain that shoots through his leg as he starts to fatigue after short distances. You don't see the falls and trips at the end of the night, the constant need for his medication to give him the chance to keep up with his friends or the frustration and tears that come when he can feel when his body fails him. Nobody hears the tearful conversations of our family unit talking about how his life could change over the next few years, and how he has to take care of his muscles now because how he treats his body today will help his body as a grown up.
Just the other day we were driving home from a doctor’s appointment and he said “I’m different because most people’s minds fail them before their bodies and my body fails me before my brain does. It's hard to want to do something but your body doesn’t listen. Please never tell me to hurry up or try harder because that’s a voice that is already always in my head. I’m always telling my body that and it doesn’t listen and makes me sad.” Then he said “How would you feel if your body didn’t listen to you and everybody was telling you to go faster, try harder and you are already giving it everything you got and you can’t keep up.”
My son is the "King of Work-Arounds", as we call it. A simple task for a kid like standing up after sitting on the floor is very difficult for him, imagine trying to go from sitting to standing with one leg….that is what he has to do. So my son found a work-around, he modified the way he turns his body and uses his hands and other leg to gain enough momentum to propel his body up. Walking up and down stairs can be extremely dangerous for him. If his leg fails him, he can easily go down in a blink of an eye with no warning. As of now the need for wheelchair assistance isn't required, but others with the same disease are not as lucky and require one daily.
As a father going through his journey of diagnoses it has been an emotional roller coaster and I could have released my frustrations, anger, hurt and sadness on a lot of different things...but instead, I choose gaming. I have been gaming since I was a little kid and now it is something that my Son and I can do together, and it won't cause him any bodily harm or fatigue. As this Stream grows, we will jump into games together and hopefully raise awareness for this rare disease.
Help me raise money towards MDAs research of CMS and the other disorders that are affecting our family and friends. CMS is a strong disease, but together we are stronger.
Direct Donations can be found at my MDA_LetsPlay page:
https://mdaletsplay.donordrive.com/participant/1475
Sources and more information found at:
https://www.mda.org/disease/congenital-myasthenic-syndromes
https://rarediseases.org/rare-diseases/congenital-myasthenic-syndromes/ #:~:text=Most%20CMS%20are%20transmitted%20by,CMS%20can%20worsen%20another%20type.
https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/
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