My cousin Story!

Thanks everybody for the warm welcome.

My cousin lives in Lebanon, He is 54 years old now, When he was a teenager ( between 10 to 12 years old) he start having a walking problems, After that the civil war start in Lebanon (1975-1990) when he was 15 years old but his condition wasn't that bad yet, when he become in his 20'sh he start using a cane because it start getting bad, During the war his dad took him to a few doctors, they didn't know what's wrong with him, but most of them said do not make a massage for him or it will get worse, Later on he start using a scooter because he could'nt balance him self, Since 10 years or more his arms start getting weak, he can't carry more than a cup of tea now, then he broke one leg few years ago and they put for him a metal brace, he have the hammer foot, I think he have a CMT, Everything online about CMT describe his condition, He never took any kind of medicine, he didn't see any doctor for the his disease for at least the last 30 years or more, he have been laying down in bed for the last 15 years, He don't have any kind of pain in his nerve or other kind of pain just lately his back and neck form laying down for long time, So I called him 3 days ago and I asked him to go to a doctor to check out what's wrong with him, and if he said its CMT what kind of CMT he had, he don't get any kind of disability or benefit from the government and im trying to help him out, what is the steps he is going to do to find out if its CMT? im like 90% sure its CMT what do you think guys? I was reading online about PXT3003 and that they are going on phase 3 in 2015, can anybody help me with the doses numbers of the 3 medicines? And how I can get the PTX3003?


Sounds very familiar. I wasn' the diagnosed until age 40. I have had mild signs through my life but nothing was understood until I had enough progression for others to notice the symtoms. Good luck, and let us know how we can help, support, and encourage.


The way too be 100% sure would be to have him get a genetic test, I believe they have mouth swab tests now, but it is expensive. I haven't heard of any medications but believe we will soon.

Do you mean to check for duplication of the PMP 22 gene or something else?