Need some advices for my situation

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Dear all,

I already posted this message in CMTA forums and I got a warm welcome and great

help there. However, the forum is quiet now, so I decided to post here after a

long thought since it seems like people are easier in answering questions

through email. So, if you already read this post and especially with the people

that already help me on the forum such as Autumn33, , and Retlaw, please

forgive me.

Here is my situation and hopefully I could receive some help from al of you.

I was a normal child until 6-7 years old when one day I woke up and could not

speak up. My parent took me to the hospital and then I was diagnosed with a

tumor on my vocal cord. Because it was so deep inside as well as the lack of

technology at that time in my country, the doctors could not take it out

completely. Therefore, they decided to take only half of it and let the rest

grow. As a result, about 6-12 months I need to come back to the hospital to have

another surgery. The first 5 times went well. The sixth time, they decided to

use nitrogen in liquid, which has the temperature of -196 Celsius degrees to

completely kill the tumor.

However, after the surgery both of my hands and my legs got affected almost at

the same time, the hand may got worse a little bit earlier. I then have had the

hand and the foot deformities as in case of CMT, e.g I have had footdrop, my

fingers could not stretch out. Soon after that, I figured out the the left side

of my vocal cord was paralysis but I am not sure that if this was a result of

the surgery or because of the CMT. In addition to that, I have developed

scoliosis and respiratory problems when I sleep, e.g I snore really loud when I

sleep. All of the symptoms happened within couple years after my hands and my

leg got affected.

I have been to my doctors both on my country and the States. I have had MRI in

my neck, which has a normal result. I have been tested with EMG 3 times but no

doctor ever mentioned the word " CMT " to me until couple weeks ago. Some think

that I have had spinal cord injury, some think that I was affected by polio (but

I already had vaccine, so I am not sure if this is valid statement), and some

are not sure what was happened to me. The one I recently visited thought that I

have had CMT type 2 after performing an EMG on my body since there is no one in

my family, which include more than 50 people of more than 4 generations, has any

sight of this decease. However, this doctor was not so sure because of the lack

of technology as well as this area is not his specialized. So he advised me to

pursue more tests before making any confirmation.

After hearing about CMT, I did a lot of research and all of the symptoms that

appeared on me look similar to CMT, except that the symptom did not happen first

at the leg as in normal case. Therefore, I would like to ask the following

questions:

1. If there is anyone who has been in the same situation as myself. If so, could

you guess what type of CMT I have had.

2. Do my symptoms stay in the typical appearance for CMT Type 2? As mentioned

earlier, I have most of the symptoms of CMT, but it is quite strange that both

legs and hands got affected almost at the same time (the hand may be a little

bit earlier)

3. I know that only doctors could determine for sure, but I would also like to

ask if there is any decease that has the same symptoms as CMT.

4. My other question is that since I live in Asia now and in my country there is

no one that has enough knowledge about this illness. Therefore, I would like to

ask that if some of you could give me the name of any doctor somewhere in Asia

such as Singapore of Hongkong who is specialized about CMT for having more

tests.

5. In case that there is no doctor in Asia could help me, could you please give

me the name of some experts in the States so that I could make an appointment.

Also, I heard about Dr. Shy at Wayne State with a new technology known as skin

biopsy. Does he the only who does it?

6. How about having the gene test from Athena? Do I need to have it for now?

Does anyone ever do this test from outside of the U.S? If so, could you please

advise me on how to do it?

7. I am thinking of having children in the future and I heard that there is a

new technology, which is called PGD could help people to no pass bad gene to

their kids. Could somebody give me more info on that?

I am sorry for a long post. Thank you for your attention and I hope that you

could spend some of your valuable time to help me with my questions.

Yours sincerely,

PS: About my situation for now. I have walked on the out side of my foot since

the sixth surgery. I have high arch, some hammer toes, and I could not move the

finger on my foot upward, which seems like the typical thing for CMT patients.

My hands, as mentioned earlier, could not stretch out. The fingers of my right

hand side bent a degree of 90. I have had 2 tendon transfer surgeries, which

could help me a little bit more. I have had sleep apnea and my scoliosis have a

curve of more than 30 degrees.