Originally Posted by Susanne C.
Actually she is extremely well qualified, thorough, and competent. She exhausted all avenues and sent me to Johns Hopkins for a second opinion. But she was distressed by not being able to DO something. CMT is progressive, incurable and untreatable, but it isn't life threatening like ALS or MS, as she rather forcibly reminded me, so she sent me on my way. I was upset because I found her consoling. Obviously she couldn't say the same for me!
Kitt, I don't quite see the need for a CMT specialist once a diagnosis is obtained since the only treatment is palliative. Pain management is generally handled by a PCP anyway since they see you regularly. Most CMT specialists in this area are pediatric.
Suzanne C., actually CMT can be life threatening if there is phrenic nerve involvement. This site has a little on it. There are other reputable sites as well concerning the phrenic nerve and CMT.
Once you have a definite diagnosis of CMT you "probably" do not need to see an expert neurologist who knows CMT. Suffice to say that they know what CMT is. They see others who have CMT. They have kept up on the types of CMT. They know what meds to prescribe if needed and they know what meds you should not be taking. This includes pain killers. They can prescribe AFO's, orthotics, etc. and really know what you need. Casted AFO's "must" fit perfectly. A CMTer has different needs than other people who require AFO's.
PCP's have had like 10 minutes on the subject of CMT if they have heard of it at all. They can and do prescribe medications. But do they know what medications a CMTer should not take. They too can and do prescribe AFO's, orthotics, etc. But then it is pretty well left up to the orthotist to decide what kind of AFO you need. And there are many, many kinds and types of AFO's. It is nice if the orthotist has seen others who have CMT (even though we are all different). He/she then has a good idea of what you need.
There is no expert neurologist who knows CMT in my area either. I would have to travel over 300 miles round trip in order to see one and that is not doable now.
A good idea is to learn everything from reputable sources that you can and to keep a copy of the medication list. Give one to your PCP as well. This list is very important.