my introduction

[Guest guest]

Hi, My name is Holli. I'm 43. I was called last Thursday by my

neurologist with the news that my genetics testing was diagnostic for CMT. I was

convinced it was HNPP from my research but guess I'm not so far off as I am now

reading that they are very closely related.

I have had symptoms all my life but mostly nuisance, not

debilitating. My first recollection was persistant numbness that my

kindergarten friends didn't get after using scissors, riding a bike

or playing on the monkey bars. Since high school, after strenuous

work I would find that my hips and shoulders would be so weak that

I'd have to " tri-pod " to get to a stand and do the " monster walk " :

swinging my feet out and forward since my hips weren't doing it.

That always goes away after a while. About that time I experienced deep bone

pain which I thought was growing pains. As an adult that

continues and sometimes feels like a spike being driven up through

the bone. Usually hips and pelvis but when bad includes lower legs

and arms. I have had numerous injuries, many of which I attribute to

my loose jointedness (which I inherited from my mother -- think CMT

is from Dad).

I have torn both shoulder rotator cuffs (bike and car accidents each), broke my

left ankle (stepping off a curb) requiring

2 surgeries b/c of tarsal tunnel syndrome, herniated disc L5-S1

requiring surgery and temporary loss of sensation and function in

left leg, on and off carpal tunnel syndrome (no surgery!!),

dislocated peroneal tendon in left ankle (bowling, ugh) requiring

surgery.

I've also had periodic dizziness, balance problems including

1 bout of labrynthitis (the worst!) and 2 bouts of " stillness

sickness " where I continue to pitch and rock after getting OFF a

boat, which I did fine on. That has gone as long as 3 weeks.

I'm becomming concerned about my hearing. What finally brought me to seek

diagnosis is a persistant burning sensation over my left tongue and face

including a dry eye. An EMG was done that showed moderate

diffuse slowness. That was consistant from the first one 20+ years

ago when I broke my ankle. At that time I was told, " just the way God made you " .

I noted some posts regarding dental work and was surprised

to see my " unusual " reaction to lidocaine here -- which is everything except

that tooth gets numb.

Lately I have been having lots of lancing electric like pains that stab just

about anywhere as well as the sensation of bugs crawling on my hands or toes and

aching, radiating pain down to my fingers and toes. In the last year it has

scared me a bit to find my hand tremor so badly after gardening that I can't

keep my glass from spilling.

Treatment so far has been mostly Aleve (Naproxen) as needed.

My father, both sisters and my children to varying degrees have

symptoms. My dad and sisters have all been diagnosed in the past with Meniere's

disease and hearing loss. All have had weird injuries and numbness that is

profound. My dad gets " stuck " if he falls asleep with his arms above his head.

My sister had a 3 month episode of foot drop. My other sister had 2 children

with hip dysplasia diagnosed at birth. The sister with foot drop has the classic

stork legs. She and my dad and his mother have very high arches and hammer toes.

She had surgery to correct, dad has special shoes made. That sister has also had

surgery on the same neuroma in her foot 3 times and it is back again. My

children complain about numbness and fasciculations from time to time but were

all born with normal looking feet like mine.

I know it's long, sorry. A thumbnail sketch of my life. My

neurologist has told me that she needs to do some reading. I'm

wondering if I should find a specialist in CMT, anyone know someone

in Los Angeles, CA? I have had no treatment other than PT that has

always made me worse (course we didn't know about the CMT).

Given the new rapid progession of symptoms, what is your experience?

Does this mean that I'll tend to continue to progress this fast? It

seems to me that I wax and wane with symptoms, anyone else? Just

because I'm waxing right now is it reasonable to expect it to wane as well?

Should I be asking my neurologist for anything other than a

diagnosis? Thank you in advance for your answers.

Holli

Topanga, CA