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

KAFO's (Leg Braces) Story

UPDATED: 8-12-2014
It been months and months it looks like medical won't cover my KAFO's!!!!! (read below to find out about the story of my wanting KAFO's):  

 March 21, 2014     I have some very very exciting news! Yesterday I went to UCDavis to see my CMT specialist to show them some changes I have been making and some changes I want to make! So around 6-7 months ago something came into my life that changed everything! So my wonderful friend Debbie gave me her hot-tub that they never used hoping it would bring me some comfort. Well up until that point (for over 2 years) I only could move my legs on my bed, but then when this warm water came into my life, I was able to start moving my legs all the time and Brandon and I started a stretching routine for me that I would do a few times a week in the hot tub, so now after that long time I started noticing that I had much more control of my upper legs. So I started learning how to drive again and on standing but I could not stand by myself. So I went to my specialist and told them all about the changes and I told them how much drive and fire I have in me to live, live life and to make my situation better. So we talked all about it and.......there are going to fit me with full leg braces so I can stand by myself (with a walker and brandon's help)!!!!!!!!!!!!!!!!!!!! Its going to be a very long process about 6 months but then I will be able to stand by myself and just that act alone the doctors say will be amazing psychical therapy. I am so excited to stand!!!!!! I can't stop smiling at the thought of standing!!!! 

No comments:

Post a Comment