Wednesday, February 29, 2012

Rare Disease Awareness

I had it brought to my attention about a month ago that Febrary 29 was Rare Disease Awareness Day & asked again what Abby had been diagnosed with 3 years ago. 

Abby was diagnosed with Charot-Marie-Tooth, which is a hereditary neurological disease.  What is even odder ... neither Stan nor I have any symptoms so we're still not sure where she "inherited" this genetic disorder from.  It can just happen, but that is not usually the case.  And at this stage in the game, we haven't done the genetic testing because it is cost prohibitive.

CMT is a progressive disease that attacks your peripheal nerves (nerves below your knees and elbows).  Currently, Abby is only showing signs in her legs and only significantly in one.  Because of CMT, she cannot control her big toe.  You may be able to sit there and pull your big toe up towards the sky ... Abby's simply hangs there.  Which can make it difficult for her to put on her shoes.  She also walks on the outside of her foot and sprains her ankle easily.  She has had a couple doozies over the last couple years.  She currently wears an ankle brace for support which helps tremendously.  Some day ... she may have to also progress in to orthodics, but for the time being this brace does the trick. 

I could continue on and on with much more :).  Our neurologist, Dr. Yang, is awesome.  We see her once a year & she has assured us there are only 2 things in life that Abby will never accomplish ... 1. She will not be a marathon runner and 2. She won't be a broadway dancer.  Beyond those two ... Abby will still be able to accomplish whatever she wants to in life. We are fortunate ... if there is a form of CMT you would wish to be diagnosed with, that is Abby. Every year when we go to Children's I am reminded of this.  My baby girl can walk, she can run, she can hop, she can skip & jump.  Many of the other children we see come in to their appointments confined to wheel chairs & struggle to even walk up and down the hall for the myriad of people we see at the checkups.  Each year we consult with Dr. Yang, we see physical therapists, we see occupational therapists, we see representatives from The Muscular Distrophy Association & a few other areas I can't even remember.  

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