Re: diagnosis late in life

[Guest guest]

This is an open question to Gretchen and any late onsetters of CMT.

Other than a partially numb left foot, my symptoms did not begin

until 3 years ago - at the age of 55. University Hospital diagnosed

me as having an inherited sensorimotor polyneuropathy and I had the

Athena testing - which showed an unknown variant and did not say I

had CMT.

Shortly thereafter I went to Hopkins with the sole intention of learning more

about my disease. The doctor there thought I had CIDP and ordered

immunoglobulin IV treatments. After treatments 2 and 3, severe headaches and

vomitting put me in the hospital for 3 days.

Since that time I've had a couple pairs of AFOs and have been educating myself

on CMT. I went back to Hopkins today, hoping that the doctor would run

pulmonary and maybe swallowing tests,as I think CMT has affected both. After

testing my leg and arm strength, the doctor asserted that I could not have CMT

because if I did, I wouldn't have gotten so much worse in 3 years.

So I had a new round of NCV and EMG tests. During the NCV tests the

tech claimed my nerves were " jumping all over the place' and that

was before being shocked! Three techs spent one hour trying to find

one particular nerve and never did. So now the doc wants me to have

another LP ( I had a normal one 3 yrs. ago) and probably treat me

with prednisone.

Are there any other late onsetters out there that have progressed fairly

quickly. I would welcome any thoughts at all.

Thanks for listening,

P.S. The doc also asked me if I'd consider having another

immunoglobulin treatment. Guess what my answer was!!

[Guest guest]

Hi ,

Yes, your 'possible' CMT could have progressed quickly in 3 years.

Progression " rates " are different for us all however. Do you know what

your NCV/EMG readings were?

As for the LP, OMG, that is the absolute WORST test of them all, I know

from experience. Maybe your doc is still trying to rule out other

diagnoses. I am wondering if, at Hopkins, you could have a skin biopsy

to further diagnose CMT? (not at all an invasive test)

It is so unfortunate that docs give IVG treatments to people with CMT - because

it is a waste of $ and does not work! I'm so sorry to hear how sick it made you.

Be careful about Predisone. It can weaken bones.

Gretchen

[Guest guest]

Gretchen,

Thank you for replying so quickly. The doctor is trying his hardest

to make me fit the CIDP pigeonhole, so I can be treated. The fact

is, even if I had it, it's a case where, for me, the treatment is

worse than the disease! The last time I was hospitalized as a result

of it, I picked up a nasty gastrointestinal infection in the

hospital and was sick as a dog for 2 more weeks. I think I would

have to be severely cognitively impaired to willingly undergo IVG

treatments again.

I honestly thought when this doctor saw me again after 3 years, it would be

obvious to him that I had an unknown variant of CMT. I have classic symptoms.

The whole time I'm being shocked, I'm thinking, " I can't believe this is

happening to me. "

I am not going to get another lumbar puncture. My regular neurologist feels

there's very little chance it will be any different than the one I had 3 yrs.

ago. This same doc wanted me to have the LP repeated 3 yrs. ago cause he didn't

have the results of the first

one. I had no problem with mine, but I'm not willing to risk a

second go-round. The fact is I am very content with my diagnosis of

generic sensorimotor polyneuropathy. I obviously don't fit the

Hopkins doc's narrow view of what a CMT'er should be like.

Thank you for this forum because it's reassuring to know we don't

all fit the same profile. As for me, I am finished with s

Hopkins Neurology. There are, however, some great pediatric

neurologists and neurosurgeons there(like Carson).

[Guest guest]

-

I just turned 60.  Up until 2001 I was just clumsy and tripped a lot.  As a

child I did poorly in sports.  When I was 53 was when I began falling which led

me to see a Neurologist who diagnosed me within a year of testing. As far as the

type, I am a CMT1, but not a test indicating I was not a 1A. 

 

Recently I just found out that my sister n who is now 53 years old has

begun having noticeable problems walking, tripping and falling.

Lynda

[Guest guest]

Lynda,

Thanks for posting - your response lets me know I'm not alone with my

late onset. I noticed in another post that you take nortriptyline. I

take 20 mg. every night as a migraine preventative. My sister, who is

49, is starting with numb feet and curling fingers.

Thanks again,

[Guest guest]

,

I am curious, who were you seeing at Hopkins? I used to go there also. I found

that sometimes they did want to repeat tests and I refused; especially a lumber

puncture.

Jackie

[Guest guest]

Jackie,

I saw Dr. Chaudhry, who for some reason is hellbent on treating me for CIDP.  He

did not even want to listen to my symptoms.  Little wonder medical expenses are

escalating when you keep repeating patients' tests(seemingly til you get the

answer you want) and you order treatment for something they don't even have.  I

think they have excellent pediatric neurologists and neurosurgeons at Hopkins,

but I'm finished with the adult ones.  I mean what's the point in shocking the

hell out of me - so you can tell me I'm worse?  I knew that to begin with!!!

In defense of Hopkins, they do have some good cardiac people.  My husband is

seeing Dr. Duke Cameron, who specializes in aortic aneurysms and pediatric

cardiac surgery..

[Guest guest]

,

I went to Dr. Drachman who at the time was head of the neuromuscular dept

and the MDA clinic and very renowned. He is world known for ALS. He was good at

the diagnosis and was able to narrow with the tests he did, but i have to say, i

found Hopkins to be more about research and not about the patient in front of

them. Of course, Dr. Drachman has always been kind to me and sometimes i had to

remind him that i could be his daughter sitting in front of him and that helped.

I ended up going to Dr. Neil Porter and university of maryland who knows about

CMT plus the other neuromuscular diseases. he did not run any tests on me as he

felt like none were necessary.

Another great doctor who is very knowlegable and very kind is: I would have gone

to him had i stayed in land and my mother has just started going to see him

and it is the first time that she has been to a doctor that looked at her foot

and said she looks like she has Charcot foot (she is 80 and has been to plenty

of doctors in her lifetime) I have been told all along that we have no family

history and Hopkins did EMG's on both my parents and saw nothing unusual.

Bruce Rabin, M.D., Ph.D.

phone:410-616-7188

fax:410-616-7131

s Hopkins at Greenspring Station

10755 Falls Road, Suite 460

Lutherville, land 21093

Jackie

[Guest guest]

Jackie,

Thank you so much for all your information. I will definitely see

Dr. Rabin when I'm ready to see a CMT guy again.