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.
Saturday, November 15, 2014
FINALLY STANDING IN STANDER!
Today I accomplished an amazing goal! I was finally able to stand in the stander with my afo (Ankle Foot Orthosis) leg braces on. I can not even begin to express what this felt like, what this meant to me! I have worked so hard and there were many times where I felt like I would never get to this point and today I did it! I stood in the stander, with no straps on, for 15 minutes! There are truly no words that I can say/type right now that can express this moment, so I will let the picture/act speak for itself!!!!!
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Way to go, Tya!!!!
ReplyDeleteOh, Tya!
ReplyDeleteHow wonderful.....this made my day!
Always with you,
Ema
Oh my goodness love!! I am so absolutely ecstatic and over the moon for you!! You have come so far already! I am so proud of you!! This brought tears to my eyes. I love you!! And am so honored and blessed that you have allowed me to be a part of your journey!! Your strength and determination could move mountains, I am in awe of you and courage. You rock love!! So proud! Xoxoxoxoxxo
ReplyDeleteCongratulations Tya! !! Xx
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ReplyDeleteCongratulations Tya! Let that fire burn bright! You are making such amazing progress!
ReplyDeleteThank you so much girl!
DeleteOMG!!! That's INCREDIBLE!! Such hard work finally paid off...so happy for you, sweetheart! <3
ReplyDeleteThank you and thank you for coming by ;)
DeleteWell done beautiful, I believe in you!!
ReplyDeleteThank you so much beautiful!!
DeleteWay to go Tya, what an awesome milestone, I totally see you walking!
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ReplyDeleteI meant to ask; Do you have a support group or belong to a Circle of Friends at CMTA? I'm excited for you, best wishes to you and your family!
ReplyDeleteYes I have them on Facebook. Thank you so much for your support!!!!
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