CMTX and a new baby

[Guest guest]

Hello all my wife and I have found out that we are having a baby this

August and I suppose I have the typical happy/scared feeling that is

typical but haveing CMTX makes me even a bit more uneasy. I'm

obviously hoping for a boy so we won't even have to worry about CMT at

all but I'm curious about CMTX and women.

My mother and two aunts would obviously have it simply because of the

inheritance and show very mild symptoms. So mild that if it weren't for my

diagnoses at 15 years old none of them would have even known about it. I guess

I would say I'm moderatly affected. NO braces or anthing yet.

I had read that it's typical for females to be unaffected. Are their any CMTX

women out there who can shed light on this? Also if we do have a lil girl would

she one day be able to have CMT free children via genetic screening?

I'm was realy confident about all this before we got pregnant but I'm

now feeling very selfish and guilty at the thought of a little girl

with CMTX.

Wade

[Guest guest]

Wade, 

From genetic counseling CMTX is inherited in an x-linked dominant manner. If

you're the affected one (male), you pass  the altered gene to all your

daughters: 0 to your sons.  I'm a carrier (female)  w/ a 50% risk of passing the

defect to each of my two sons. 

My eldest is positive; had been sick since he was born,  but was diagnosed only

at 30 years old.  I wouldn't know that I'm the carrier till he was diagnosed.  I

only noticed slight trembling of my hands when working.  I'm nearing 60 noticing

a difference in my hands vs. when I was younger.

My youngest is clinically negative per our neurologist but we're awaiting for

his DNA result.  He has tinnitus, hyperacusis which the doctor said, is not

related to CMT.  For the past two months, we have been trying to relate,

identify ; reduce his problems and have consulted ENT specialist, audiologists,

acupuncturist, massage therapist, chiropractor,  plus our family physicians. 

His CAT scan has a negative result. His taking prescription and herbal drugs. 

We're not giving up... he's going to another ENT specialist and MRI next year. 

For those experiencing ringing of the ears kindly mention any intervention/s

that have helped you.With all our ups and downs re: my son's CMT, I'm hoping the

best for you and your family. If this is God's will and there's a purpose....may

we all learn to LOVE and SUPPORT these kids who have inherited the mutated

gene.May God Bless US ALL!!!  

MERRY CHRISTMAS !!!!

Tessie