It took me 7 years after a car accident that I could never get over, to get a full diagnosis, and still they suspect other things.
My General Practitioner was on the right track when he repeatedly ran tests for Sjogren's Syndrome, and finally it showed on the tests. It took several more years to find a specialist to agree with this, and further the diagnosis.
How long has it taken you?
67 years.
When I was a toddler, first learning to walk, my mother thought there was something wrong my my feed and ankles, due to the strange shape and a little trouble walking. My pediatrician agreed, but had no idea what it was. Specialists looked at my feet, ankle, and legs and agreed that I had a slight problem but had no idea what it was, other than random defect in my ankle. Of course, back then I ran like most little kids, perhaps a little slower but still too fast for a mother who had another son to keep up with.
In college I had repeated falls and sprained ankles. Doctors look at them and agreed that I had weak ankles but never suggest that it might be something more. In my forties a orthopedist x-rayed my ankles and knees, saw osteo-arthritis, thought that the arthritis in my ankle was due to all the sprains, but did not know why I had so much trouble when young. In my 50's family doctor looked at my ankles, saw that I had weak ankles, checked my feet for neuropathy, found none (no loss of feeling in my foot at the time).
Finally. last year a different family doctor checked me for neuropathy and found a little bit. He referred me to a neurologist who specialized in neuromuscular problems and who diagnosed CMT. Another doctor, a neurologist who specializes in neuromuscular diseases confirmed the diagnosis and identified the type (type 2).
There were too many doctors who examined my legs and feet but did not even suspect a neuromuscular problem. I don't think that any of them had even heard of CMT.
John
John,
Thank you so very much for responding. What a long, long journey you have had to get the answers that you deserve. As frustrating as it surely has been, it is progress.
My journey through Ben's Friends has only been about 2 years, and as much as I have learned, there are MANY illnesses on our list that I had never even heard of, though I had heard Charcot Marie Tooth, I really wasn't sure just what it was. The 'Tooth' always throws you off base, thinking it's something dental, or at least oral.
May I ask if there is a medicine or treatment that is of benefit to you?
Wishing you well,
SK
Dear Sk :
It has taken the doctor thirty years to ciome up with a diagnosis of Muscular Dystrophy. Ten years later, these einstiens diagnosed me as having C.M.T., and within the past five years, they've said I have a third diagnosis of
hyperkalemic periodic paralysis.
Jayme
hypperkalemic periodic paralysis
SK, As far as I know, there is not yet any treatment for CMT. We all hope for one, and organizations like the Charcot Marie Tooth Association, the Hereditary Neuropathy Foundation, MDA, and others are financing research. A complete cure is the goal; help with some of the symptoms will probably be first.
I don't know if an earlier diagnosis would have made any difference. At least I didn't do anything like having knee replacement, which would not have solved the underlying problem. However, had I known earlier, I would have joined the various on-line and off-line support groups and met many wonderful people earlier.
John
Hi Jayme,
Good to hear from you! What a long road you have been on too! I was pretty choked up about John's response, then comes this one. Those are hard words to hear, for an old softie like me, but how else am I to learn, but through all of you.
So 45 years, oh my! I have the deepest respect and admiration for all of you, that is just too long!
I had to look this up, so will post it for others who may also be unfamiliar with it.
http://www.nlm.nih.gov/medlineplus/ency/article/000316.htm
Potassium and salt, how could something so basic cause such havoc in the body? I asked the same about Lyme disease, how can such a tiny little bug like a tick make a person so desperately ill?
My illnesses are all hereditary too, without offending anyone about their religous convictions, hopefully stem cell research will change the dynamics of these diseases. I am not a medical professional, but one of my friends who is, tells me that they are learning that many of these genes have 'off and on switches', they just don't yet know how to flip them! YET!
My Rheumatologist not only practices, but is an asst prof of clinical studies, so he is one trying to figure these things out! He diagnosed me just by looking at my fingernails! They have always been 'pitted', they seemed normal to me, but were the defining moment.
I wish you the best in all of this, if ever you, any of you want someone to talk to I'm around!
Thank you for responding, Jayme, it means a lot to me. Hope opening day ended better than it started.
Wishing you well,
SK
Sorry to hear this John, everyone deserves to have treatment, of some kind. I've learned that with Myositis, they are using many RA drug infusions (immunosuppressants) to tackle this. I am learning both of these diseases along with Lyme, and all are very complicated, and surely heart breaking.
I admire your strength of character, all of you, and hope to get to know all of you. Though I do not suffer your same illness, I do suffer, and hope to help in any way.
Best to you, and to the group,
SK
It took at least 5 years for my diagnosis. Even then I think doctors didn’t really think that was what it was. My orthopedic surgeon was the one to finally say CMT. I too look back and realize that during my childhood I had many signs. I couldn’t ride a bike,horrible hand writing,clumsiness and lack of eye hand coordination. Still,these are not run to the doctor problems. I watched my Mom struggle,so when I had my “final” fall of many,I could no longer use my left leg. My foot turned the neuropathy began and if I don’t walk on my toes on my left foot,I drag my leg. My hands are equally as bad. Three carpal tunnel operations,one basal joint. I need another basal joint in my right hand,but I am right handed so I am moving to be near family so I can address these problems. My back has numerous disks out. Two are pressing on my sciatic nerve. I still continue to dance for exercise and use a stroller to walk for distance. My little ShihTzu doesn’t mind a bit. She loves her carriage! I will never forget what my doctor said: “it won’t kill you just cripple you!” He was right. I never give up! I address each problem as it comes. I had a heart attack in Sept. From another hereditary disease. Four bypasses and I am lucky to be here still. God is my rock. My faith and a sense of humor get me through. My best to all of you. It is nice to read about others who are dealing with this,too.
Karen said:
It took at least 5 years for my diagnosis. Even then I think doctors didn't really think that was what it was. My orthopedic surgeon was the one to finally say CMT. I too look back and realize that during my childhood I had many signs. I couldn't ride a bike,horrible hand writing,clumsiness and lack of eye hand coordination. Still,these are not run to the doctor problems. I watched my Mom struggle,so when I had my "final" fall of many,I could no longer use my left leg. My foot turned the neuropathy began and if I don't walk on my toes on my left foot,I drag my leg. My hands are equally as bad. Three carpal tunnel operations,one basal joint. I need another basal joint in my right hand,but I am right handed so I am moving to be near family so I can address these problems. My back has numerous disks out. Two are pressing on my sciatic nerve. I still continue to dance for exercise and use a stroller to walk for distance. My little ShihTzu doesn't mind a bit. She loves her carriage! I will never forget what my doctor said: "it won't kill you just cripple you!" He was right. I never give up! I address each problem as it comes. I had a heart attack in Sept. From another hereditary disease. Four bypasses and I am lucky to be here still. God is my rock. My faith and a sense of humor get me through. My best to all of you. It is nice to read about others who are dealing with this,too.
Hello Karen,
Sorry to hear of your struggles, I admire your strength, and am amazed that you still have a sense of humor! Good for you! All of this can certainly make you lose your personality, unless you work hard to perfect it!
I have Sciatica, so I can surely relate to that pain. Lyrica is my best defense for that. My son went through a procedure with a pain management specialist twice to replace discs, they shot a type of gel in the slot, the first lasted 10 years, and he just had it redone. It was done in the office! If I could just get him to a Rheumatologist. He has a double genetic curse, with Psoriatic Arthritis, and other various autoimmune, on my side, then his paternal grandmother had juvenile RA! I spoke to my own Rheum about this, and he told me not to worry, that when the pain gets bad enough, he'd find his way there!
So all of this going on and you still dance! WOO HOO! I'm a fan! I love your spirit and determination! It's a pleasure to converse with you! I still dance with my little grandson, I can't really move my hips too well, my back is shot, so I move my arms, and he tells me I'm 'tool', which translates to 'cool'! ha! Best compliment I've had in YEARS! ha!
Good to hear from you, don't be a stranger!
Wishing you well,
SK
l guess we are all born with it! l was diagnosed at 47. My symptoms are way milder than my brothers. But l always thought there was something wrong with me.
I know, you can look back and see it, can't you? They are doing a lot of genetic research, so we have to stay very positive for some treatments for CMT. I've sent up some heart felt prayers and good wishes.
Have you ever done any clinical trials or genetic testing, if I may ask?
Take care and keep up the 'smooth moves'!
Wishing you well,
SK
l do not know which type l have. From what l can tell my insurance will not pay for it. As far as my information gets me, no one in the family has been typed either. So no trials for me. There are at least 10 living relatives that have this condition. The expense of the genetic testing is way too expensive on its own.
Tami
Oh, I'm sure it's wildly expensive! I understand perfectly, it is out of my league as well!
I also help out on the Myositis group, and it is a condition not too different from CMT, but more autoimmune in nature, one gal is being injected with a gel type med, and one vial (that is one shot for one week) is $30,000.00. Now while battling with her insurance company, NORD (National Organization of Rare Diseases) is covering the cost until the insurance company kicks in. She says it's the first thing that's made a difference. By Bessie at $30k a week, she should be able to fly!
l have a friend whos daughter has JDM! Poor child is so sick all the time, in the hospital constantly. Infusions coming and going. She spends most her time at Scotish Rites or Childrens medical.
My daughters' best friend has JDM. Young lady at 22 or so and already has complete disability from SS. Too sad these horrible diseases are plaguing the population.
Best of luck to her on that flying!! LOL
Someday we will all be diagnosed properly or in heaven and it won't matter anymore!
Tami
http://www.clinicaltrials.gov/ct2/about-studies/learn
Above is a link that dancermom gave me for those interested in doing clinical trials, so if you or any of our family would be interested, here is the info.
No pressure, of course, I'm just excited that this is happening and trying to get the word out!
Oh I know, CM, it just breaks your heart in two to see these kids suffer with such terrible afflictions! There is the prettiest little gal that I have seen at my Rheumatologist office, her daddy always brings her, she can only be all of 12 or 13. She is always beautifully dressed and poised, but in a wheel chair, the kind you never get out of, and of course as much as I want to talk to her, I get choked up and have to go out in the parking lot until I get over the bawling fit!
My Rheumatologist is the kindest of men, and I am certain that he treats her like pure gold and does all he can for her, but still, she is in this chair! Tsk! Sigh!
Tami, here is the med I was talking about, apparently it feeds the adrenal glands with amino acids!
It took a lifetime for me to get diagnosed. Even though I had symptoms as a child, tripping over my own feet falling all the time, slight scoliosis etc. I wasn't diagnosed until age 47 .
after my neurologist ruled out Md, MS, LYme disease, & spinal stenosis, I researched my symptoms and asked to be tested for CMT1A. The Athena blood test came back positive for CMT1A. One time I would have liked to be wrong.
Dear Melinda,
Hello, it's so nice to hear from you. I have seen the good work that you have done here for your community! I applaud you!
That is such a very long time to wait for a diagnosis, especially to find that so little is still known. I can certainly understand how you would have liked to have been wrong. You are not the first person I have met in a Ben's Friends community who researched and diagnosed themselves!
My mom likes to watch these live footage shows of the ERs around the world and something one of the ER Doctors said the other day rang a bell with me, it was something to the affect that "just because something was only touched on in med school did not mean that they were not required to continue the research"!
My diseases are genetic too, and I can look back now, and see this at my heels, I can connect the dots. Imagine the progress that could be made if 'WE', the patients could give lectures to the Physicians who diagnose us?
So nice to see you on the boards, hope that you are as well and as happy as you can be.
Wishing you well,
SK