What is CMS?

Hello!  In the comments of my previous post, I was asked what CMS was and if it took long for the doctors to name this disability.

CMS stands for Congenital Myasthenic Syndrome, which is under the branch of Myasthenia.  Many of you may have heard of Myasthenia Gravis and you may think that CMS is like that.  In some ways yes, like it affects the muscles in the body, but you treat CMS and Myasthenia Gravis very differently.    How doctors would treat Myasthenia Gravis may worsen the symptoms of CMS if they were to use the same treatment.

Through my research on CMS, I came across this short, but informative description of what it is.  Below I have inserted the article: IMG_1562

Like explained in the article, the symptoms vary from patient to patient because there are many different gene defects that cause CMS.  My gene fault is the CHRNB1 gene and I have Fast Channel CMS which means that my nerve endings open and close too quickly and not enough of a chemical called Acetylcholine (ACh), which is what helps your muscles move and function.  By not having enough of the ACh, my muscles do not get the message from my brain telling them to move, so they are slow to respond.

I was born with CMS, but I wasn’t diagnosed until I was 16, before that, my family and I said I had “Rosie Syndrome”.  It was very frustrating growing up and not knowing why my muscles did not work or why my voice was hard to understand (of course in my head I was making perfect sense which caused me to get annoyed when people didn’t know what I was saying, especially my parents).  When kids in my class would as me what was wrong, I couldn’t really give them an answer besides “I was just born this way”.  For a long time, I questioned why me? Why did I have to be different?  Although I had a difficult time with why I am the way I am, it didn’t stop me from trying my best to ignore it and act like every other kid my age.

When I was diagnosed at 16, I changed completely.  I became much more outgoing and wasn’t afraid to raise my hand in class.  I was a junior in high school and I finally came out of my shell.  This is also when I decided that journalism was going to be my career of choice.  I saw journalism as a platform to educate people on not just my disability, but on all of them.  I feel like the disability community gets pushed to the side, maybe because people are afraid of offending someone or they just don’t know enough about disabilities, or both, but I feel the need to bring the spotlight back on the disability community.  The last time disabled people were in the spotlight was in 1996 with the Americans with Disabilities Act, I think it’s time to revisit this issue, especially with the current political climate we are facing.

CMS is a very rare disease and only a handful of Americans have it.  On Facebook, I have found a support group that is wonderful and makes me feel less alone.  A great resource to check out is the Muscular Dystrophy Association website (link is at the bottom of this post).

Thank you so much for reading and thank you for the question!  I hope you learned a little more and don’t be afraid to drop questions in the comments!  Have a wonderful weekend my lovely readers!  I will chat with you all tomorrow!  Stay true to you!





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