Re: Waiting on blood work for 3 year old daughter/ I have QUESTIONS

[Guest guest]

My son was diagnosed with CMT1A (which I was told is the best to have). He was

just a little over 2 years old when diagnosed. When he started walking, he'd

take 7 steps or so and it looked as if his ankle would just give out on him.

He's a toe walker. He use to be really bad, couldn't go flat at all. After 7

weeks of serial casting, he was able to walk flat. He wore an AFO on one foot

and a SMO on the other. He did really well. He doesn't currently wear them.

He's able to run, jump, you name it. He's like a monkey. He did also go through

some physical therapy. It all really helped him.

I also have CMT, but wasn't diagnosed until shortly after he was. Looking back

at how things were for me as a child, I really wish it had been detected. I

struggled with running and all kinds of physical limitations.

Hope some of that helped.

Sunshine

[Guest guest]

Hi,

There is no CMT in my family either. I was diagnosed when I was 10.

No DNA tests in those days. I was diagnosed by an orthopedist who

watched me walk up and down his halls, saw me roll over on my shoes,

and did some reflex testing. This was in the early 1960s. To this day

I have not had DNA testing, but my baseline ADULT EMG in 1998 showed

reinnervation and all normal readings, which is an indication of Type

2.

There are many types and subtypes of CMT - CMT 1A being the most

common, and thus gets the most research attention. There is not

really a " better type " or " worse type " of CMT to have. This is

because CMT is genetic - whether dominant, recessive or a new

mutation, and the level of severity/non-severity or progression/or

non-progression is going to depend more on the genetic coding than

anything else.

It is common for the Athena test to take 28 days. Unfortunately,

Athena is about the ONLY commercial lab doing the testing and is

located in Boston, so this means blood is shipped, red/white blood is

seperated, etc, the test done - and last time I looked there is the

CMT 1A panel only and then there is a panel for CMT testing where

there is no family history. Then the results are sent back to your

doctor, who gives you the news.

I know it is hard to wait for this. Hang in there.

Let me just say I have had CMT my whole life - diagnosed as a kid(am

53) now, in the best physical shape of my entire life, only need in-

shoe orthotics for gait/motion control, I work, travel, have tons of

interests, exercise every other day in aquatics, and more. You can

look back aways in posts for more about my " story " or please feel

free to email me directly (address above) if you want to ask a

specific question about my life. Heck, my life is pretty much an open

book anyway.

I don't remember having " limitations " with my CMT as a kid - other than a sort

of overprotective mother who tried to SET some limitations for me which I

totally fought, ignored, denied, and went out to tackle the world, CMT and all.

Even now, I do not consider myself to have " limitations " .

Hope this helps.

~ Gretchen/ Founder

[Guest guest]

AFOS are wonderful. They will help her run play etc... My son has had them since

he was 4. Surgery won't help at this point. You don't even have to think about

it for years. Therapy for my kids is just playing and swimming.

As far as the best type of CMT..... Well I have CMT and 3 of my kids have CMT.

We all have the same type and we are all affected differently. When my kids were

dxed I just hoped that they would have a mild case. Please let us know when your

daughters' test comes back.

[Guest guest]

Be patient with Athena bloodwork. It seams they had an overload of tests back

in June. Our bloodwork took 10 weeks. The date of completion kept being

extended 3 different time.