I was only diagnosed with Charcot Marie Tooth 1 years ago because the doctors I consulted in regional Australia, where I live, have no idea about CMT. I was treated for 30 years for arthritis - God, I was so angry. I now have a spinal cord stimulator in my back to lessen the pain of the Scoliosis and lower back pain, next trip to my pain specialist will be to find some medication to help my peripheral neuropathy in my legs. I've been taking Gabbapentin and one doctor questioned why I was taking it because I am not a diabetic. Now my speech is being affected and I can't get my words out. This is another symptom of one of the many conditions associated with CMT, and was not supposed to be associated with my Type 1A, but it is. I suffer with severe fatigue and that's when my speech is affected - I just can't talk. I was diagnosed with cancer in my left eye earlier this year, hence the different shape. It was cancer over the tear duct but I'm not sure if that was associated with CMT.
Does anyone else with Type 1A CMT have speech problems? I use a machine to try and strengthen my lungs because I have problems breathing at night. All the tests under the sun over the past 2 years have proved negative, but I know it's the CMT progressing, so I have to sleep sitting up. Lying flat on my back and I end up having a panic attack because I can't breath. This is a very debilitating disease and doctors just don't know enough about it.
that is me too freckles, I have speech & breathing problems and type 1a. I just saw the consultant about it, he ordered lots of tests to exclude other things & just ended up saying my speech and swallowing problems are probably CMT issues, but I agree dr's don't know enough about it. All the best to you, Lynne
I've seen so many neurological specialists and they all put me in the little box - emphysema. I know it's not that and generally tell them that I think it is part of Charcot Marie Tooth but Type 1A is not categorised for having breathing or speech problems. I had the blood test that came back Type 1A, which is the most common type of CMT. I've never smoked, have not had a drink of alcohol for 35 years and only found out that I have this disease 10 years ago, via a blood test. The only doctor here in Australia who is Patron of the CMT Association told me there was a possible "cure" and he was looking for volunteers, but when he reassessed my age (75) he said I was too old but my son, who is 46, has the disease and he would be an ideal candidate. My son is in denial about inheriting this disease from me, even though his ankle is full of steel. I say nothing these days but he knows that my speech has now gone - sounds like I've been drinking - I slur or I can't just get the words out. I also have to be careful of what eat. Have to cut up my meat like I am cooking meals for an invalid or a small child. Not a good future for me, especially when the doctors allude to the fact that I'm too old for any treatment. Dr. Philip Nitschke is the only doctor who will eventually help me.
I've found that I've had to do my own research and purchased this breathing apparatus called Power Plus Breather, and I'm supposed to use it as many times per day as I can. It will strengthen the muscles in my throat and diaphragm to help my breathing problems - no drugs involved. I'm really angry that I've gone through my life being misdiagnosed and operations on my feet that made them worse - why? Because the stupid medical profession are still experimenting on people like myself, too old for medication but not too old for surgery. No more surgery for me. I've got a spinal cord stimulator in my back and that's as far as I'm going with intervention. I get around 50% relief from my chronic scoliosis, which is another symptom of CMT Type 1A.
I too have a respirator i use at night, cannot lie flat, although i frequently wake up flat. I have a raised diaphragm so breathlessness. I wear AFO's on my lower leg which stop me from tripping as i have dropped feet. My hands are clawing and ive lost the strength in them as well as feeling . My voice goes when i talk for a short period of time and i do struggle getting words out. I have to go to a tribunal soon to prove i have a disability. Im 64 and have had a active life until recent years my daughter has foot trouble, and my son scoliosis. My other s on has not got it so therefore his children have not, as its a 50/50. It tends to be a disease that you cope with. Good luck and keep blocking its very useful to talk to others.
Hi Lowther1, I didn't find out that I had this disease until quite late in life but now, it makes sense to the various health issues I've had to deal with over the years. Now I'm coming to the end of my life (I believe) the CMT is progressing rapidly and my speech, strength in my legs, back, etc. are now on a very downward slide and I'm feeling powerless over the impact it's having on my general well-being. Unless you have CMT, you have no idea how helpless and often hopeless, one can feel when all the symptoms become aggressive. My scoliosis is so bad I've had a spinal cord stimulator inserted into back but it only gives me around 40% relief. Sometimes I wonder if it is worthwhile to even get out of bed, except to take my little dog outside and then I come back to the safety and support of a hot blanket to ease my aching body. I do sound terribly negative tonight, so I think I'll take my little dog and my Endone and go to bed.
I understand your feeling down. I have found over the years it progresses rapidly then stops. There is a lack of understanding by the medical profession. I and many have found its easier just to get on with it. Every case is different people i know have not got the same symptoms which is why the medics have a job pinpointing a diagnosis. Im sorry you feel down, try and do a little something each day, Ive recently taken up painting im useless and my hands clawed but i am determined to try. I read a lot i have a kindle because i cannot feel and turn pages. Its a case of finding ways to cope. Take care.
Hi how did you get on at tribunal to prove your disability. Im waiting for date for mine. I have cmt. Osteoporosis. Athritis and fractured vertebrae that causes awful pain. Yet hcp i saw for 20 mins has credited me as fine.
Hi I won my tribunal it was a nerve racking experience, but honesty won through, i believe i had won it before i went in. Gather all the information you can, a letter from your GP will help a lot. I hope it goes well when it happens. But we have to stand up for ourselves no one else will,
I too have a rounded back, always have had. But dr's have always said its nothing to do with cmt! I disagree. I haven't had breathing problems yet & no spine problems, I'm more angry with my consultant now who would not write that my speech & choking problems are due to CMT, I do agree that science hasn't caught up with many neurological conditions I'm just glad I have been diagnosed. All the best Freckles.
I am so sorry you have cancer . Absolutely sure that is not CMT related though: just very, very bad luck.
I have CMT 1A and have developed a voice problem firmly misdiagnosed as the result of "silent reflux", which of course didn't respond one bit to a year's virtually fat-free diet and speech therapy. It doesn't affect my speech much unless i try to raise my voice, but it has put a stop to the choral singing I so enjoyed. No choir would want someone who produces 2 different notes at once (no, not in harmony - it just sounds horrid, and is called diplophonia) .
That and the terrifying episodes I have had of laryngospasm ("choking" on a microscopic particle of saliva and being unable to inhale) were later attributed by a more sympathetic voice specialist to "stress" (so why do they happen when I am perfectly relaxed and happy?) with "maybe some input from CMT". Oh well. I'll never know. But as with most CMT symptoms and other incurable things, the best we can hope for is a way of dealing - or living - with it. At least I have been advised on coping with laryngospasm and so haven't had a really bad episode for a couple of years. I have also taken up handbell ringing, which isn't nearly so spiritually fulfilling as choral singing but is better than nothing.
Hi, Freckles For some reason, in addition to CMT, I thought you mentioned a diagnosis of cancer in your left eye - at the end of your first paragraph in your original post. I apologise if I misread it.
Hi Amanita, You're right. I was diagnosed with cancer in my right eye, over the tear duct, and had to have it removed and a stint inserted into my eyelid, then skin graft over my eye. It's fine now.
in reply to
PS: forgot to mention Amanita, that the cancer had nothing to do with CMT.
Amanita I get exactly that, I choke on nothing, or rather like you say a microscopic bit of saliva and its terrifying isn't it? I wonder if the Power Plus Breather would help like Freckles has. I've been to the choking clinic and been taught how to swallow more safely but not laryngospasm, is that what you've had? What a shame you've had to give up singing, handbell ringing sounds like its a second best option.
If you do actually get laryngospasm, it is when you apparently inhale a minuscule particle of -maybe- saliva and your throat automatically goes into shut-down mode (actually your vocal cords closing together) as if to protect you from drowning. At first you can't breathe in at all, and your lips go blue , then with huge difficulty and with a harsh gasping sound (called stridor) you start to inhale tiny amounts of air. Eventually it settles down and you breathe normally. Although it feels like forever, it probably lasts no more than 90 seconds. The way to deal with it is as soon as you start to realise what is happening, you must breathe in very very gently through your nose , which is absolutely counterintuitive, but works. Apparently if you do actually lose consciousness through lack of oxygen, your throat relaxes and you can breathe again. I hope i shall not have to put that to the test! There is a very clear and, I think, authoritative Youtube video by a Dr Robert Bastian, which describes exactly what I have experienced.
Choking is different from laryngospasm because there is actually something lodged in your throat. Unlike laryngospasm it should respond to the Heimlich manoeuvre.
Yes I was so sad to give up singing. I loved the camaraderie and the communal challenge of making sense of new (to us) music culminating in a concert performance, with orchestra - and found the experience of making a wonderful sound with 90 other people exhilarating and the perfect antidote to working solitarily at my drawing board. But even if I could still sing I'd have had to give up the performances as would be totally unable to get on to the stage now. I have also given up playing the recorder (never much good at it but enjoyed it) because I can no longer feel if my fingers are covering the holes. Suppose it's just part of modifying ones life with the progression of the CMT, and we have to be pragmatic and make the most of what we can do while we can. My wrists are already beginning to protest about the weight of the bells...
I hear what u all saying about swallowing and breathing I too have issues with them yet we are told 1a doesn't effect these! ??? My brother and I both have it and we often talk and compare each others difficulties, I am 10 yrs older and c that he's starting to struggle he had always worked very hard and is hard to watch. Although it is nice to talk with someone that understands and gets it. He has scoliosis also but can't get any help and has to struggle on. I do believe that there are many things that cmt do that are not understood our even excepted but for us that struggle with it each and every day we know.
Google CMT and Scoliosis and you will find that Scoliosis is another symptom of CMT. There are so many varities of CMT and I believe, that's why the doctors don't know enough about give out diagnosis for something that is very complicated. I was told that CMT 1A had nothing to do with breathing problems - I think they're wrong.
I had a spinal cord stimulator inserted into my back to cope with the pain of the scoliosis. It has reduced the pain by 50% and I supplement with pan killers, if required. I see an anaesthetist who specialises in pain management and he has been a big help to me. He did't know anything about CMT but has taken an interest and gives me the help I need. I was told by other anaethetists that an anaesthetist is the only doctor who really understands pain - and they were right.
I see a pain management doctor & also had a spinal cord stimulator implanted. I had seen him for a couple of years for my peripheral neuropathy. I took oodles of opiods over the years. Then he said lets try the stimulator. I had a temporary one for about 5 days. I was getting some relief so we agreed to surgery to implant the permanent one which was done by a spinal surgeon. I guess I get about 30 to 40 percent relief. I'm not sure I would do it again. I still take pain medication occassionally. Not that it helps the neuropathy but it relaxes me. This past September I went to our state university and saw a wonderful neurologist who diagnosed me with CMT. I now have AFOs that make a world of difference in my walking. I know the pins & needles and numbness & burning of neuropathy will never go away. It does depress me that I will have to live with that pain. But my main problem above that is constant fatigue. Some days I don' have the energy to operate the TV remote control. My husband has been a dear and cooked, cleaned and done the laundry. He does all the shopping and drives me to all my doctors. I haven't driven in over two and a half years. Not having any feeling in my feet I wouldn't be able to tell if I was speeding or not. Scary thought for other drivers. I go back for my 2nd appointment with the neurologist in a couple of weeks. I have a list of questions for her. I hope for answers that will help. Good luck to you. p.s. I also have scoliosis which is common with CMT patients.
I still have to take opioids for the scoliosis pain in my back as the spinal cord stimulator only gives me about 40 to 50% relief. Don't think I would go through that operation again. I can relate to lack of energy ad terrible fatigue. I believe, after researching the internet, that some CMT sufferers become low in oxygen levels as they get older and I believe that's what is happening to me. I thought I was going to die last night when I woke up unable to breathe properly. I have to sleep half sitting up because my lungs don't function properly when I'm lying flat on my back. The muscles around my diaphragm are becoming weaker as I get older. It's a damn disease that no one knows anything about except CMT suffers who do their own research. Back to Dr. Google again.
I'm so glad the AFOs have made such a difference for you.
I have very little feeling in my feet, (though i'd yell if you actually trod on them), but I do drive, with my AFOs and rather thick soled-boots. I use my thigh muscles and the tiny amount of movement I have in my ankles. I drive an automatic and use my right foot on the accelerator (normal) and my left for the brake (not normal) I asked to have an extra-large brake pedal fitted so I don't miss it, plus a block to prevent my R foot straying too far to the right and missing the accelerator. This is because my feet have very little sense of where they are (I surreptitiously check visually before setting off) . If I were suddenly faced with driving like this from having been able-bodied, I doubt if I could manage it, but I suppose i have been making adaptations over a long time.
You are indeed fortunate to have such a wonderful husband.
I live alone in a village in Scotland, so need to drive for all sorts of reasons.
I have speech problems to, had them since a child, my family always made fun of it, like a speech defect. Recently, I have found I just cannot find the right words and have to pause to think of what to say and many times the words just don't sound right. I slur my speech occasionally like I was drunk (do not drink and have not done so for 43 years). I feel like I have a stutter when I first speak, it is weird. I also have strange episodes at night and have had these for many years. I wake up suddenly like I was choking and have to get out of bed and need a drink of water, my hubby says I have shouted out saying I have swallowed something please help me - odd or what. Once I get it together I am fine. There is no system to these episodes, I have have loads night after night and then none, so not sure if stress adds to them or not. I really believe this breathing, swallowing and night time issues are relevant. I sleep raised up at the head of the bed as cannot sleep flat, even worse with a cold or flu and have slept in a chair for 20 nights when I had a virus. Has to be related.
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