When diagnosis is rare, parents may know more than professionals

Ben just posted this on facebook, and I immediately thought of my friends here, and wanted to share this with you. Sending my very best to all parents of children with a rare disease.


I could not agree more with the idea the parent is most motivated to learn, research and even understand what their child is dealing with; I saw the problems early in my daughter and related to my own childhood; She was diagnosed at age 5 yrs where I was not diagnosed until age 40 and suffered much more irreversible damage to my muscles and nerves in the lifetime of feeling overwhelmed trying to over come and keep up with peers. I have read that a CMT person with "mild" symptoms, exerts 7 times the amount of energy and effort for a given activity than "normal" person. So, it's no wonder we get fatigued and stay tired so much of the time. A child suffering this kind of fatigue, can develop self esteem issues, feel discouraged to even try and as a result, become depressed or introverted or feeling defeated before they start anything. Many develop obesity, diabetes and other secondary issues early on, b/c of feeling limited physically. AWARENESS in any disease is so extremely important!
Become an Awareness Advocate and Do NOT be afraid to share. You might be the reason a young person or the parent of a child,becomes aware of what they are dealing with, early enough to actually stay off symptoms and become as active as they can and feel accomplished!
~~~~CM from my experiences

I was diagnosed at the age of 12 years old. Here in my 50’s told I do not have CMT and have never had it. I am at a loss to think after all these years to be told I do not have CMT .

Dear Darlene,

Your frustration must be tremendous! There is no good reason why a decision cannot be reached on this, I think by now you have the best idea here. My general practitioner has always told me to listen to my body, and I have always found this to be some of the best advice ever given me!

I am ever hopeful that a decision and diagnosis can be obtained, and better treatments, and better yet a CURE will come about for all of my friends who suffer CMT!

Please know you are ALWAYS welcome here in the group. It is your support group with or without a diagnosis! I hope you always feel part of the group, and will continue to contribute! I do not have CMT, but am one of your strongest advocates, just ask my Doctors! Thank you all for allowing me into your world.

Wishing you well,


CM, your children and grandchildren are most fortunate to have your guidance and support! So is the group!

Thanks a thousand!


In my 17 yrs of confirmed diagnosis, I've seen and heard so much to confirm that doctors and nurses are not as knowledgeable as they want to think or believe. Since it's only been recently, that CMT has even been addressed in medical school or training it stands to reason you might have a doctor tell you, that you don't have it; especially if he isn't familiar with the signs, symptoms and variants of CMT. New mutations are being researched and discovered all the time; When I was diagnosed in Oct.1997 there were 7 types known; now there are over 59 and more being researched. Just b/c you don't fit the doctors idea, exposure, or understanding or even limited knowledge doesn't give him authority to arbitrarily tell you after 50 yrs that you do not have it. We HOPE you do not have it but we sure hope being i this group you can learn more and maybe seek another opinion to determine what your body is experiencing.

you most certainly have things you can share that can be helpful here and most of all friendship with anything in life can sure make your life more enriched! Thank you for being part of the group and sharing!

~~~~CM. . . CMT doesn't have you, even when you "might" have CMT

I had NO idea there are currently 59 types of CMT! This is unbelievable! I think I've read quite a bit about CMT, but never found anything that recent apparently! Good to know! The more they know, hopefully the sooner better treatment and cure!

Thanks for your contribution, CM!