CMT:

CMT1A is a rare (1:5,000) hereditary motor and sensory demyelinating peripheral neuropathy (also known as Hereditary Motor and Sensory Neuropathy, HMSN) which is caused by an intrachromosomal duplication and consecutive toxic overexpression of the PMP22 gene on chromosome 17. CMT1A is one of the most common inherited peripheral nerve-related disorders which is passed down through families in an autosomal dominant fashion. CMT1A disease becomes evident in young adulthood and slowly progresses with distally pronounced muscle weakness and numbness. Pain can range from mild to severe. The disease can be highly debilitating with patients becoming wheel chair-bound and is often accompanied by severe cases of neurological pain. There is no known cure for this incapacitating disease.

Tuesday, August 12, 2014

When I wasn't able to walk anymore...

This was written right after it happened....back in the very beginning of  2011
Well with my disease, this is very hard for me to say (write) I am still in complete shock myself....but me, Brandon and my mother all went to the number one hospital in my state, to see my specialist and ask why has this happened, why am I not walking....and just to sum it up he said after running many test, that I was already hanging onto the line by a thread (the line: of past the point to no return) when I came into to see them in January and then my vacation to Tahoe, I did so much physical activity (trying to snowboard), push my body way to far (usually I can go on a vacation and then I just have like a 2-3 day recovery time where I can't walk) well this time, I haven't been able to walk since January, I thought I would go into the doctor and he would say oh you will get better soon....but no, it was me, Brandon and my mom sitting there, hearing the words, with this disease there is a "line" and if you go under that line, you are past the point of no return. Then he said the words "There is no easy way to tell you this but after looking over you and testing you, you will probably never walk again". Brandon had to quit his job, I am on ssi though so we will be ok and Brandon helps me move and I am getting a power chair in a couple months, its a long process so I am just in a wheel chair right now. I am on pain meds to help with the pain from the disease. Also Brandon became my care taker. We are in shock.... 
VIDEO OF EXACTLY WHAT HAPPENED AND FOOTAGE FROM THAT DAY. 
Posted by at

1 comment:

  1. UnknownAugust 14, 2014 at 2:48 PM

    I think you are super bloody fantastic and you can do anything you set your heart on �� i believe in you, good luck xx

    ReplyDelete

Subscribe to: Post Comments (Atom)