Dr shopping and CMT and my son's case

[Guest guest]

Hi Donna and ,

You are absolutely right! You know you have CMT-1 and the fact about myelin.

But Danny's diagnosis is still not confirmed.. Even though he presents many of

the sympthoms of CMT, his peripheral neuropathy has some unknown variants. For

that reason, I can't give up and just let him get worse. Six years ago he had

no symptoms. He could run fast, jump, and play without falling down.

See a recent video of Danny walking without his AFOs:

After that pediatric neurologist, I took Danny to Dr. Benke, a genetic

specialist who then referred me to Stephan Züchner, MD Director of Center for

Human Molecular Genomics at University of Miami. Dr. Züchner is including Danny

into their studies looking to try to identify a new gene. Danny has negative

standard DNA testing (per Athena, their full panel, except for SH3TC3

Sequencing/unkown variant/single nucleotide change, not thought to be of

consequence).

Dr. Benke is also talking to a scientist in Poland, Dr. Andrzej Kochanski, in

the same subject. Dr. Benke thinks Curcumin can provide some improvement

regardless of the kind of CMT he has. Although I have seen Dr. Benke only

once, he keeps in touch with me via email and keeps me updated with pubmed.com.

When he spoke to Danny, he advised him that when other children make fun of him

at school or ask him why he walks " funny " , to just answer " I have bad legs. "

and that's it!... to go on with his day because there are doctors and scientists

trying to help him. Those comments made a big difference for Danny.

Danny will have his heel cords and hamstrings lenghten on April 1st with Dr.

Leon Root at the Hospital for Special Surgery. Dr. Root also perfomed his

osteotomy last year in January. You can see his scars on the video. I chose

Dr. Root based on his thirty year experience on this kind of surgery. He is

also a very fine and positive gentleman. Danny admires and trusts him.

Danny's EMG and Nerve Conduction test results at Boston's Children Hospital have

been interpreted as " chronic predominantly axonal sensorimotor neuropathy in the

Lower Extremities with evidence of chronic denervation in the lower

extremities. " .... Another doctor who specializes in viral diseases assured me

that his peripheral neuropathy was aggravated by the polio vaccine - only God

knows!

Yesterday morning a stem-cell doctor from Argentina called me after seeing his

video. He said he has another girl patient with a similar case, and his

treatment is helping her. His name is Don o Fernandez Vina, and he has an

administrative office in Miami. The treatment consists of transplant of bone

marrow material into the lower extremities, and it has been used in Europe and

Asia to treat chronic spinal cord injuries. Of course, he wouldn't guarantee

Danny would get cured, but he believes he would have improvement or at least

stop the progression of his neuropathy with no side effects. We would have to

go to Buenos Aires for 5 days. I will consult with Dr. Benke and Dr. Root

before making any decisions .... and will keep you all posted.

I thank everyone very much for all your support. Let's not continue talking

about the comments from that Doctor.

Be well,

[Guest guest]

Wow - thanks so much for the YouTube link! I have actually never

seen someone with pronounced CMT walk before. I think I saw a man once

coming up the stairs from the London underground, but I didn't know that

this is what " the walk " with CMT looks like.

Someone mentioned we are all different. I had my visits to doctors start

because I had high arches and wanted to walk a marathon, so wanted shoe

inserts! My walking has slowed a bit with time, and is no longer the most

advisable or comfortable thing to walk a marathon, but it is true that we

are all impacted differently.

You can read more about what I do for athletics on my very out of date

website: http://home.earthlink.net/~sponsordonna. I do feel CMT but so far

have not many visible symptoms (but I do get fatigues, muscle twitching,

high arches, ringing ears, and other symptoms many people on talk

about).

Thanks so much for sharing this, and for also sharing how you are working

with some great sounding doctors. I think that it is really important to

have doctors that you feel comfortable with and that you trust.

Best wishes from London,

Donna

http://home.earthlink.net/~sponsordonna