Boyd woman brings awareness to disease

[Guest guest]

Founders Note: Just so we're all * clear *, CMT is NOT a 'form' of

Muscular Dystrophy!!!! ~ G)

http://www.dailyindepend

ent.com/local/local_story_061234558.html

Boyd woman brings awareness to disease

By MARK MAYNARD - The Independent

On Saturday, millions around the world observed the second annual

Rare Disease Day.

Kim Mcs of Catlettsburg knows the helpless feeling of having a

rare disease. She has Charcot-Marie-Tooth disease, a form of Muscular

Dystrophy that affects one of every 2,500 in the United States.

A disease is considered rare if it affects fewer than 200,000,

according to the Rare Disease Day Web site.

While some rare diseases such as Lou Gehrig's disease (ALS) are well

known to the public, others are not. Mcs was diagnosed with one

of those last fall. CMT is the most commonly inherited peripheral

neuropathy, with symptoms ranging from moderately incapacitating to

severely disabling, yet most have not heard of it and many medical

professionals have little or no experience diagnosing or managing it.

" It was frustrating for years because I didn't know about it, " she

said. " There's no cure for it at this point, but it helps to know

what's wrong with you. "

Mcs found out through DNA blood tests, she said. Her physician

is Dr. ph Bajorek, a neurologist.

" It's one of those diseases that doesn't show up until you're grown, "

she said. " I was diagnosed last year, but I was born with it. "

The Rare Disease Day is not observed locally, although Mcs

would like to see that changed in the future.

" The Rare Disease Day raises awareness about these kind of diseases, "

she said.

Mcs, who has two elementary age children, said the CMT is

mostly affecting the muscles in her feet and hands.

" I can't rollerskate or can't even walk on uneven ground, " she said.

She said when many first read about the disease, the name — Charcot-

Marie-Tooth disease — makes them think it has something to do with

teeth.

" The reason it's called that is those are the people who founded it, "

Mcs said.

[Guest guest]

Not to be offensive but there is some real problems with this woman's statement.

They really should have checked the facts before printing. where did she get the

idea that it is a disease that dosen't show up till your grown? It may not have

for her but it is different for everyone.

[Guest guest]

,

Yes, she is misinformed, so is the journalist who I wrote to and received a

'thank you for the info' email. CMT can affect anyone, at any age, infants to a

person in their 80s. Since the article cited the CMTA, I surely hope the

journalist contacted them with a pre-publication copy for review. If not, that's

a problem. If this woman thinks CMT is a form of MD, I presume she is uneducated

in CMT and may have gone to an MDA clinic for her CMT and thus thought CMT is a

form of CMT.

We must keep learning what CMT IS and what it IS NOT, and we all must work

toward understanding the true nature of our disease and communicate that

efffectively.

Journalists only have so much space for their articles, editors cut and cut. So

more of the true story isn't told.

Gretchen

I suggest you email the journalist as I did.

[Guest guest]

I agree I was diagnosed at 5 and it is true most people with CMT do not show

symptoms until later in life while many others like myself always had symptoms.

Andy

[Guest guest]

Gretchen

I too saw the same article and tried to email them after signing up to join

their " Dear Martha " column. I don't know if my message was received, but I let

them know that CMT is definitely not a form of Muscular Dystrophy. I too can

only assume that she was totally misinformed or perhaps, as suggested, she might

have been diagnosed at a MD facility and assumed it was a form of that disease.

Mark

[Guest guest]

CMT is an atrophy not a dystrophy.