Finding out the truth about Charcot-Marie-Tooth

[Guest guest]

Finding out the truth about Charcot-Marie-Tooth

http://www.post-gazette.com/pg/07360/844206-114.stm

By Pohla , Pittsburgh Post-Gazette

Briget Shields, a fly fisherman and jewelry maker, was diagnosed in

her early 50s with Charcot-Marie-Tooth Disorder. She's also wife of

city council President Doug Shields.

As a kid, Briget Shields suffered from terrible leg cramps. " Growing

pains, " her doctor said.

But what about her skinny legs, the fragile ankles she would sprain

or break if she tried to engage in sports? No one really thought too

much about them. Not everyone has big, muscular legs, and kids do

get hurt, you know.

About three years ago, though, more things began to go wrong for the

wife of city council President Doug Shields, who is also a trained

fashion illustrator, jewelry maker and art handler for the Frick

Fine Arts Museum.

" I had leg cramps, twitches, burning and weakness in my lower legs.

I started losing my balance, " said Ms. Shields, 55, of Squirrel

Hill. There was a " strange fatigue, " and, after sitting several

hours, her legs would go numb.

" That's where it started, " she said. " I was convinced I had Lyme

disease because I'm a fly fisherman. "

She was wrong.

Well, then maybe, she thought, it was multiple sclerosis, " but that

was ruled out by an MRI. Then the doctors eliminated Lou Gehrig's

disease and lupus. "

Ms. Shields started to worry that she was nothing more than a

hypochondriac.

Finally, one day when she was undergoing an electromyogram, the

technician looked at her reaction to electroshock and exclaimed, " I

think she has CMT. "

And so, about a year after she started looking for the cause of her

problems, it was confirmed by a new series of tests: Ms. Shields has

Charcot-Marie-Tooth, or CMT, the most commonly inherited peripheral

neuropathy, or disease of the nerves. It affects an estimated

150,000 Americans and more than 2.5 million people worldwide. There

are treatments for the disorder, which as it progresses causes

patients to lose normal use of their feet/legs and hands/arms, but

there is no cure. It generally is not fatal.

" Once you're diagnosed, there are things you can do, and it makes

you feel you're not a hypochondriac, " Ms. Shields said. " I was

actually grateful when I was diagnosed with CMT. "

One of the things she did was learn everything she could about the

disorder, which was discovered in 1886 by three physicians, Jean-

Charcot, Pierre Marie, and Henry Tooth. That research

led her to the Chester, Pa.-based Charcot-Marie-Tooth Association, a

nonprofit organization whose goals are patient support, public

education, promotion and funding of research and the treatment and

cure of CMT.

Ms Shields has recently signed on to act as a fund-raiser and

advocate as the CMTA conducts two major initiatives.

One is called the Accelerated Research Collaboration; the other is

the CMT Prevalence Study.

In the former, a small group of scientists spread out across the

nation has been guaranteed funding through a $350,000 challenge

grant to find a cure for the three most common forms of CMT within

the next three to five years. They will be looking for it -- or

them -- among a list of 100,000 over-the-counter remedies already

approved by the Food and Drug Administration.

In the latter, which is funded by the Pennsylvania Department of

Health, the CMTA is seeking to determine exactly how many people

have the neuropathy by surveying the population of eight Western

Pennsylvania counties, including Allegheny and Westmoreland, plus

Bedford, Blair, Cambria, Clearfield, Indiana and Somerset.

" It's the first prevalence study on CMT in the United States, " said

CMTA executive director F. Hagins. " We were planning on

doing all of Pennsylvania, but we may only have to thoroughly do

eight counties to extrapolate back. We sat down with the Conemaugh

Health Systems [ P. Murtha Neuroscience Center and Pain

Institute, which has a CMT clinic], and the people who do studies

say it is more important to get a good count than to spread it out

further. "

To that end, the CMTA has been running public service ads on

television featuring Penn State football coach Joe Paterno, who

speaks about some of the symptoms of CMT and asks people who know or

fear they have it to take part in the survey. That is accomplished

by filling out and sending in a brochure available in many

neurologists' offices, linking to the CMTA Web site at www.charcot-

marie-tooth.org or by calling the Murtha Institute toll-free at 1-

888-405-0139.

Meanwhile, Ms. Shields has met with Mr. Hagins and volunteered to

take on two projects: organizing a support group and a fund raiser.

Her doctor and her husband also are involved. Dr. Chitharanjam V.

Rao, a UPMC neurologist, was the lead speaker at a patient-family

conference in Monroeville in June; Mr. Shields got city council to

issue a proclamation establishing a CMT awareness week this past

summer.

" Briget, since she's been made aware of us, has been a great

advocate with Doug, " Mr. Hagins said.

" You've got to give a person like Briget a lot of credit, " he

added. " She took charge of her disorder. A lot of people just sit

back and complain. She said, 'I'm not going to do this. I'm going to

do something [positive]. She's found there's light at the end of the

tunnel. "

One of the first things Ms. Shields did after her own diagnosis and

research was to get her father diagnosed with CMT after years of

misdiagnoses and suffering.

CMT is passed on from parent to child in an autosomal dominant

pattern. That means that if one parent has CMT, each child has a 50-

50 chance of inheriting the gene and the disease. So far Ms. Shields

is the only one of four siblings to be diagnosed with CMT, but the

other three aren't necessarily in the clear. Ms. Shields and her

father suffer from one of the rare forms of CMT, one in which the

symptoms usually show up later in life.

Ms. Shields' 22-year-old daughter Liza, a fashion designer in New

York, has tested negatively for CMT. Her son, Elliot, 24, and an art

school student in San Francisco, has not yet been tested.

Over the three years since her diagnosis, Ms. Shields' symptoms have

worsened. She has hammer toes, a frequent symptom, and chronic pain.

She wears orthotics for raised arches, another classic symptom.

" I don't want it to sound like I'm a big complainer, " she

said. " It's not fatal -- that's a big plus. It doesn't affect organs

like MS does. ... I feel very fortunate that I'm not in leg braces.

I'm still walking. But I attribute that to my staying active and

doing exercises. "

She begins each day with a yoga stretch. She takes lots of hot baths

and does low-resistance exercise like walking and swimming.

" I don't use traditional medicine, " Ms. Shields said. " I do a lot of

supplements, herbal remedies. "

She does take ibuprofen and, when absolutely necessary, takes

stronger painkillers prescribed by a team of doctors she praises at

every opportunity.

Though physical therapy is beneficial, she doesn't use conventional

p.t. because the first therapist she went to didn't know what CMT

was.

" One of my goals is to help raise the awareness of doctors, physical

therapists and especially pediatric neurologists, " Ms. Shields

said. " The awareness of CMT is so foreign in medicine. "

[Guest guest]

Hello Gretchen,

Is Mrs. Shields aware now that CMT can be fatal, and does affect the organs?

Kay

[Guest guest]

Hi Kay,

Yes, it is unfortunate that Mrs. Shields is not aware of the fatal aspects of

CMT. I imagine being so newly diagnosed, she's trying to learn all she can about

the disease and perhaps does not understand this. Have you thought about

contacting her through the newspaper reporter and share your story?

And yes, I suppose there are people who will say " we don't want to scare

anyone " , but knowledge is power, as we all know, and we have to be our own

health advocates in a medical world that knows very little about CMT.

Happy New Year to you!

Gretchen

[Guest guest]

Are all types of CMT fatal or just those with breathing problems or

something else?

Elinor

[Guest guest]

Well it can be fatal but its very, very rare that it is. Although for this

reason I was only able to get $200k worth of life insurance instead of $500k

worth.

Ron

[Guest guest]

Elinor,

I have never found anything that links specific " types " of CMT to

particular 'fatalities'. Besides, breathing, swallowing difficulties

exist and can cause choking, also research has shown us that the heart muscle

can be affected too. We are all different, as you know, and symptoms vary

according to our unique genetic code and how that is manifested in our lives.

Gretchen

[Guest guest]

Gretchen, would you mind expanding on that comment? I'm fairly newly

diagnosed too, and have been saying the same thing to concerned

friends: " well, at least it's not fatal and really nothing has

changed, I've lived my whole life with this, I just know what it is

now. " I am also curious about what organs are affected and how?

Thanks. Holli in Topanga

>

> Hi Kay,

>

> Yes, it is unfortunate that Mrs. Shields is not aware of the fatal

aspects of CMT. I imagine being so newly diagnosed, she's trying to

learn all she can about the disease and perhaps does not understand

this. Have you thought about contacting her through the newspaper

reporter and share your story?

>

> And yes, I suppose there are people who will say " we don't want to

scare anyone " , but knowledge is power, as we all know, and we have to

be our own health advocates in a medical world that knows very little

about CMT.

>

> Happy New Year to you!

>

> Gretchen

>

[Guest guest]

Hi Holli,

The lungs and the heart are ones I am most aware of. Kay can

elaborate more.

And yes, I feel stress can contribute to suseptibility to injury. 2 months after

my Mother died (I was caregiver for the last year of her life) I was in a major

car accident one morning on my way to work at the corner of Sunset and Bundy Dr.

I was slammed from the rear by a Jag and shoved into the Mercedes in front of

me. I sustained a concussion and was out of work at my doc's suggestion for 6

months. I believe that accident was stress related, even though it was not my

fault.

Gretchen

Gretchen

[Guest guest]

Hi Gretchen,

are these organs affected only with specific types of CMT or with all

types. I have CMT 1 A and always was told it would only affect arms

and legs.

Thank you, best regards

André

[Guest guest]

Hi Andre,

I have not seen any research that suggests the problems are only

limited to one specific type of CMT, but rather for a wide mix of

types and genetic mutations like 1A, 1B, some Dominant Type 2's and

some Recessive Type 2's.

Gretchen

[Guest guest]

when they say u have a 50/50 chance child won't have it . I have

twins and one has it and the other dosn't. The 1 that has it is very

smart he does everything his brother walked before he did but the one

that has CMT is so much smarter, he has done everything first the only

thing that has done was to walk flat. We are getting Trevor help.

protects Trevor more and Trevor has CMT. dosen't know that is his

brother and he is going to protect him and Trevor does the

same thing. I have heard alot of bad things about CMT, Trevor was diagosed early

for it. I hope how many kids these days have been diagosed with it?

Not many, so I treat him the same as his twin brother but his twin does more

than he does, we don't know what stage he has but we know there are some things

that he can't do.