My introduction

[Guest guest]

Hello all,

I'm Debra from Washington state and cope with CMT as well .My 15 yr old son also

has this disease and is learning to cope, actually I have him to thank for

finding a name for my disorder for so long doctors called it being birth

defected or having bad feet. I was born with very short tight ankle cords if i

pulled my feet up my poor toes would go white causing me to walk very stiff

legged . At the age of 7 thanks to the March Of Dimes Foundation and seattle's

children's hospital I had my ankle cords transplanted with teflon graphs. After

that there was no stopping me. I would ride my bike run and play I did continue

P.E. classes all through school I knew I was different but I had to try I was

picked last cause I didn't run so fast but I had to play.

Jumping way ahead I gave birth to my son and right away the doctors felt

something was wrong I wasn't able to push my son out after my epidural so I

he was taken via c section but he was low on his apgar 2 five minutes later 3

all I was told is we will monitor him.

At the age of 3 we found out he had broad spectrum autism, also he had a

tremor through his right side,some hearing loss and very low tone and late

on his milestones.

Months later they decided to take a muscle biospy from my babies foot

that's when we found out he has Dejerine-Sottas-Disease also called CMT type 3

at least we now knew what was wrong but then when I found out there is no cure

and it has to come from a parent or both then I was advised to get tested so

off to a gene therapist I went.

When I got there my birth defect was taken into consideration and my

surgery but Dr Bird looked at my feet and said I doubt you have this disorder

you have very flat feet and strong calves anyway let's test for all types of CMT

some still have no gene tests yet.

So once my results were in I was taken into a room and explained to me I

carry both mutated gene sets - a set that causes CMT type 1A and a set that

causes type 3 as well so I needed a nerve conduction test which results were i

had CMT type 1A but could morph into type 3 later like my son. Currently

there isn't much info on type 3. I'm hoping to find others with this gene find

I have 2 abnormal gene sets on the pmp22 gene on chromosome 17 and the p0

gene on chromosome 1 - according to the medical team at UW. I'm quite a find so

I'd love to hear I'm not the only one who carries both mutations and gene

defects.

At this time i was pregnant with my daughter during the testing, after she

was born Athena tested her and she is clear no carrier or affected so that

was good news.

My son and I are the only family members who have this, the older members

refuse testing my great grandma had feet problems and so on as for my father

he was in a wheelchair while I was growing up I never knew why and he's gone

so I can't ask. My mother is in her 70's has had 2 hand operations and her

feet pain her alot but refuses testing so my question's will never be

answered.

Now to the present I was told at 27 I have CMT type 1A after the birth

of my daughter. I started lifting weights to get back into shape light then

heavier as i got better at it. Well my doctor has said pace yourself but as

long as you don't sever the axons effected by CMT I see no problem.

I'm now 34 and have zero progression of this disease I have made muscle's

and helped my strength except I still can't pick up a flat object on a flat

floor lol and pickle jar's grrrrrr.

I've learned to modify certain things in order to do instead of saying I

can't I say well with this I can.

As for my son I was told he will never be able to run balance or play

sports , currently I ve been teaching my son yoga, pilates and he does light

weight conditioning . He knows he won't ever be Mr. Atlas but he feels good

about himself and his accomplishments. And having this disease together has

been a strong bond.

I'm happy to announce after all his grammar school yrs in special Ed as for

jr high he has only one special Ed class last yr he was on the honor roll

every quarter ok i had to brag lol

ok enough about me how bout sharing your stories ?

Thanks

Debra