To re: your daughter

[Guest guest]

Hi ,

First off let me say I know how you must feel. My thoughts are with you and

your daughter. My wife and I have been going through a similar situation with

our 9 year old daughter. I will give you a brief history of Carley.

Back when she was about 5 years old we first started to notice that she was

having difficulty keeping up with the other kids at Kindergarten. We then

started to notice that when she ran she had a very obvious gait. We decided to

put her into physical therapy once per week to see if that would improve her leg

strength. During that time we also saw our first neurologist who diagnosed her

as having non-progressive muscle weakness. I was not totally comfortable with

that diagnosis so we took Carley to see her 2nd neurologist. This neurologist

gave Carley a nerve conduction velocity (NCV) test that came back very low for

a child her age. It was then that he first mentioned CMT. Neither my wife

or I have any family history of CMT. He then ordered the blood tests from

Athena to test for the demylinating types of CMT. After a grueling 2 month

wait, the tests came back negative. Because of this he wanted to have a

spinal tap and nerve & muscle biopsies done on Carley. The spinal tap results

came back first and showed elevated protein level. Because this could be a

sign that it was CIDP (Chronic Inflammatory Demylenating Polyneuropahty) he had

Carley undergo a 5 day treatment of IVIG which is used to treat CIDP. This

treatment did not improve her symptoms at all. In the meantime the results came

back from the biopsies which were both abnormal. It was at that time that he

said that while he could not be sure what type she had, he was postivie that it

was a type of CMT1.

Another neurologist, another uncomfortable feeling with the diagnosis. For

one, I didn't feel like he had much experience dealing with CMT or CIDP to make

a diagnosis. He just didn't seem to have much backup information to make this

diagnosis. And secondly, I just did not like this guy's demeanor. He would

never return my phone calls when I had questions regarding Carley. So I

decided to seek out another neurologist. I decided to find one that

specialized more in this area. I am not sure if you are familar with the

differences between CMT and CIDP. CMT is a hereditary condition for which

there is no cure or current treatment. CIDP is an acquired condition for which

there are treatments. They both share many of the same symptoms.

After talking online in forums will various people and researching online, I

decided to take Carley down to Washington University in St. Louis to see a Dr.

Anne Connolly. Dr. Connolly has much more experience in dealing with these,

especially CIDP. We took Carley down there last December. When we first met

with Dr. Connolly I was very impressed with the amount of prep work that she had

done in reveiwing all of Carley's previous medical records and test results.

After puting her through a more thorough NCV test she said that she thought it

was CIDP that Carley was dealing with, not CMT. Apparently, someone with

CIDP shows different results on the NCV than someone with CMT. She also said

that someone with CMT at Carley's age normally only has distal weakness, which

is loss of strength in the furthest points in her body (feet, lower legs,

hands). Carley was showing weakness in her proximal muscles as well.

She indicated that she was not concerned that the IVIG treatment did not improve

Carley's symptoms at all because she could have acquired CIDP as young as 12

months old and a 5 day treatment would not have done anything. So she

prescribed a 2 day per week treatment of steriods (prednisone). She also said

that it could take years for her to regain everything that had been damaged

throughout the years. Carley has been taking the prednisone for 5 months now

and does seem to be improving, albeit slowly. But we have also been having

her continue to go to therapy once per week and swimming lessons once per week

as well as having her exercise at home. So I am not sure if it is the

prednisone, exercise or a combination. Unfortunately, she fell off her bike on

Saturday and broke her arm so this will limit the amount of exercising she can

do for awhile.

With all that said, my questions for you are:

1. How was she diagnosed with CMT?

2. Is there any family history of CMT?

3. Did she have the blood test to confirm the diagnosis?

4. Has she had these symptoms all her life or did they appear rather

suddenly?

5. Have you checked into a diagnosis of CIDP?

As far as the vitamins, I give Carley the following per day:

3000 mg of timed release Vitamin C

200 iu of Vitamin E

1000 mcg of B-12

and a multi vitamin

We are still not totally sure if it is CIDP or CMT that Carley is dealing with.

Obviously we are now hoping that it is CIDP but I would just like to get a firm

diagnosis. We are going back down to see Dr. Connolly again in July.

Please feel free to email me if you have any questions that I can try to help

you with.

Mike

mchurches@...