Nephew been officially diagnosed with CMT (Charcot Marie Tooth)

[notthegirlnextdoor]

Hi all. My nephews Dad, Uncle and Grandma all have CMT, to varying degrees. DN is almost 4. Dad has never shown any interest in him etc. However diagnosis just been confirmed at first appointment with Neurologist was this week.

Sister is only 22 and feeling a bit overwhelmed, doesn't have anyone to turn to with it because DNs paternal side have less than zero interest in him (apparently, they are "middle class" and don't "do" teenage pregnancies, urgh.) So as big sister and general shoulder to be leaned on and very concerned Auntie, I'm reaching out to anyone on here with any information at all, and it will be greatly appreciated.

(We've done Googling etc... Its scary.)

I don't know anything about it, but I'm sorry that you're all going through this.

Thanks goodness your sister and nephew have you.

What a cruel and heartless bunch your DN's paternal family sound.

Hope you can all find some support.
x

Dear OP, please either get your post moved to or post on the special needs children area. There are a lovely group of supportive people who post regularly and will be able to give you lots of support and advice.

I read on NHS website that there is a CMT UK support group too.

Have pm'd you

My son is 14 and was diagnosed 6 months ago with CMT1a. His mutation is de novo so neither side of the family has any experience with it. He had been showing symptoms for several years but I did not know what it was and the doctors totally missed the boat. The internet can be extremely scarey but this does not need to define DN. My son is still doing all the activities that he wants and while he may be slower physically, he finds a way to make it happen. It is important for DN to find a physical activity that is low impact that he can get into - swimming is great for kids. We have found focusing on the core and working to retrain his brain on how to process some movements have helped with balance.

I was lost, angry and bewildered at first but in time, found another mother of a child the same age as mine and it has been so helpful to find someone going through the exact same thing as me. I think a support group would help you and your sister. I will you and your family well, you are a wonderful aunt and sister. This is his paternal family's loss, they can stuff it.

That was supposed to be "I wish your family well" ;)