Charcot-Marie-Tooth UK




I am very young in my mid thirties with CMT .


CMT diagnosed at 18yo,


PHRENIC NERVE PALSY diagnosed at 28yo in Hospital A&E.

HEART FAILURE (arrhythmia erratic heartbeat) diagnosed at 30yo in Hospital A&E.

I BEEN IN AND OUT THE LAST 5 years of HOSPITAL A&E all due to RESPIRATORY COMPLICATIONS, I am very Slim, skinny in places, I have Bladder & Bowel complications..

All that started mildly then severe and now it’s critical.


I am very happily looked after by the best neurologist team I know, However I believe CMT is so complicated that neurologists themselves are studying & understanding CMT to a level so they can OFFICIALLY DETERMINE IT AS A PROGRESSIVE TERMINAL DISEASE LEADING TO DEATH. Understandingly those confirmations cannot be taken quick with few CMT PATIENTS DYING FROM CMT COMPLICATIONS.

As a SEVERE CMT sufferer I feel Insulted, Ofended, lied to When reading “Official CMT literature” Affirming that CMT “isn’t life threatening, that it has normal life expectancy “, I have been told before by “official in the know sources “ for me not to talk about my CMT as it would Scare fright worry other Cmt’s, Neurologists aren’t miracle workers, they know a lot but don’t don’t yet know EVERYTHING ABOUT CMT, hence the their decision not to mention that CMT IS LIFE THREATENING MANAGED OR NOT WE WILL EASILY GET INFECTIONS WE WILL GET BREATHLESS EASILY FOR NO GOOD REASON WE WILL EXPERIENCE “OTHER” HEALTH PROBLEMS ARISING, but they won’t admit it’s CMT RELATED...

I just came out from A&E AGAIN, my swallowing and voice has WORSEN in the last 6 weeks I had Pneumonia Aspiration, my stomach was DISTORTED MY LEFT PHRENIC NERVE WAS UP PUSHING DIAPHRAGM, MY HEART WAS SO UNDER PRESSURE THEY KEPT GIVING MEDICATION FOR IT IN CRITICAL CARE UNIT, I was put to sleep INTUBED AND IN VENTILATION, my respiratory system and heart was so under pressure from trying to breath I couldn’t cough and get rid of mucus that kept getting in the way and getting stuck in the top of my throat... sure with a pneumonia infection it exacerbated it all... but CMT IS A NEUROLOGICAL condition it AFFECTS NERVES MUSCLES it will WEAK LIFE ESSENTIAL ORGANS it is PROGRESSIVELY DETERIORATING.

Yes I might sound angry upset and even having a rant but knowing that CMT SUFFERERS are being kept in the dark being told that only in the most SEVERE CASES, or being told that those cmt that died they had other complications or others that they were very old... It’s unacceptable unjustified unfair.

I had private emails and messages informing that my experience can’t be allowed to be shared because it will “SCARE CMT SUFFERES”, really!?

By the way.. Anyone with CMT with Hoarseness voice ? Swallowing problems ?

My voice has got so bad that I lose it completely I used to get better in the mornings now is 24/7 it makes my chest and breathing harder to work.. to speak is a huge effort

14 Replies

I have type 1a and have recent swallowing and voice problems. I've just had other tests to rule out any other problems. I also have optic neuritis which makes my vision fuzzy in one eye. The Consultant agrees this is due to CMT and since the same nerve supplies eyes & mouth area it seems obvious to me that its CMT though I'm waiting for my appointment to confirm this. It might scare others, but they've a right to know. All the best CMTSecrets.


So enlighten me? Why, when people are diagnosed with motor neurone disease, they are told that it's a life threatening disease, or friedreichs Ataxis, or Duchenne MD - yet, there is a consipiracy on the part of neurologists to hide this from CMTers?

I don't deny your symptoms sound very serious, and potentially life-threatening, but do you seriously want us, Charcot-Marie-Tooth UK, to tell people who's children are newly diagnosed that their children are likely to die early? When the numbers of elderly members on our own database clearly shows that this is nonsense?

I believe what I read in the scientific papers, I believe Professor Mary Reilly, Professor Mike Shy and all the others that I know and have learned from over the past 30 years.

I know of ONE person who has died as a result of CMT - a five year old, with an as yet undiagnosed type, who was paralysed from the neck down from three years old. But out of the remaining 2,800,000 estimated people in the world with CMT, that's pretty good odds for the rest of us.


KarenCmt, it’s nothing personal, I speak of myself, reading your replies to cmt sufferers specially those with concerns about breathing, you replied advising exercise, because they’re overweight or that they change diet, etc, it’s so patronising for those like myself who been advised not to talk about my severe cmt and how it’s threatening my life because will frighten and scare newly diagnosed people and children, I understood all that and I been quiet.

I am only someone with cmt and no other previous health conditions, at A&E I been told if I don’t accept help with my breathing I will die. My respiratory muscles are weak and they waste fast when trying to speak eat drink swallow putting strain in my heart, the whole chest collapses therefore if I’m lucky I get to HOSPITAL they’ll put me to sleep intubate me have me on a ventilator to give my chest/respiratory muscles Rest and recovery time, with it I’ll most certainly succumb and die, oxigen drops etc etc, all has happened to me, but last week the A&E doctors/neurologist at the hospital refused orders from my neurologist consultant not to Upset me with the “sad news” and told me how cmt is affecting why is it so bad right now and how long have I got if I don’t accept help ! I’m sorry Karen as I said before I respect you and always will no matter what, but cmt people must be encouraged to look out for these life threatening health problems, cmt is progressive disease, neurologists don’t know what cmt will affect where and how, they aren’t miracle workers they do very much and so much to help us all but we must help ourselves with the RIGHT INFORMATION no matter how upsetting it might get us. I’ve strsined my heart and breathing muscles so much that they’re so weak right now that I can hardly speak at all and by speak I mean Whipering, they will tell you it’s vocal cord paralised or and the phrenic nerve paralised, but they don’t want to officially say CMT IS LIFE THREATENING yet ?

I’ve been very strong with my cmt I’ve refused help because I been told it only affects feet legs hands arms... look at me know... every time I tried to get used to one problem like when I was 15 being bullied because I wasn’t walking straight I’d lose balance easily, then had to cope with giving up walking without aid of wheelchair then the wheelchair exacerbated my mobility problems that then I couldn’t get up and walk at all, then few years after more and more health problems showed up that got me wondering what was it that won’t go away I kept to myself because I thought I was imagining it or because the doctors weren’t saying anything so I didn’t want to ask and I bottled everything up..

Karen it makes me sad that it’s either ignorant or patronising to bring up the 5 year old child that died of cmt complications.

I believe if I and other cmt sufferer with breathing complications stop the breathing help from cpap machines our respiratory muscles would waste and weak away faster and unable to recover in time to get oxigen and keep us alive.

Cmt is life threatening guys look out for every change and demand it to be investigated ! If you feel breathless get your phrenic nerve checked for paralysis because once it’s paralised your breathing will get harder and harder wasting your muscles in your chest and once we get any infection like pneumonia like I just had you’ll be fighting for your life , it’s not scare because deep down those with breathless complaints knows something is not right and it’s not because they need to exercise or that is separate issue from CMT. Truth must be told not diversions and distractions now how will that help to keep us safe ?

Absolutely exercise healthy food are all perfect, but that won’t stop the deterioration of cmt. Cmt is progressive, at to what extent nobody can say for sure only the evidence of those with cmt and their experience, my experience and my journey is what I’m here talking about as hard as I find, as angry as I might sound, it’s nobody’s fault, we must be strong positive informative. Never ever ever give up no matter how tough it gets. Rest as much as you can sleep as much as you must!

And karenCMT, the five year old child you mention that died with CMT, has a name... JULIANNA YURI .

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Dear folks, I am CMT1a. I am so glad these posts are here! When I worked as a nurse I read in a medical nursing book that CMT goes into the heart! for some poor soles. this is hard news. But we do need to walk with our eyes open!!! be aware!! ask our friends and family to watch us! It may start with headack slight breathlessness, thinking is not quite what it was. we may not put it togather as CMT. I spent a night in sleep studio and night ventorlation was the answer. this gives me energy and balances my breathing for the next day. I have been immunenised agaist pneumonia this should be availabe to all. even 5 year olds. This is all our fight!! aginst CMT. I have changed my type of ventorlation in recent years, it has stopped me from suffering so many chest infections. I do hope this reply is helpfull to some!!

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Rgeyesl, THANK YOU, I left that bit out because I’m still processing, I Always had a healthy lifestyle like never smoked never drank alcohol eat healthily, I’m about 52-6 kilograms. I was just told at the A&E about my HEART caused by CMT is struggling with all the damaged nerves and RESPIRATORY problems, VOCAL CORD PARALYSIS, PHRENIC NERVE PARALYSIS , when in A&E they kept giving me something for the heart because kept droping but apart from that they kept me in critical although I was put to sleep intubated and ventilated to get respiratory system to recover and work well because I was out like I couldn’t breath the muscles in my chest were so fatigued they won’t pump air in, all that respiratory distress causes strain in the heart but I remember doing breathing tests four years ago and I collapsed they said my heart stopped for few seconds and I was sent to Queen Elizabeth’s heart hospital in London , I was found to have erratic heart beating which is common, but there was other weak than normal muscles or something that they couldn’t operate or do surgery because in my situation “ I would succumb to it”, CMT IS A PROGRESSIVE DISEASE AFFECTS NERVES AND MUSCLES WEAKENING THEM AND WASTING THEM ! Trust your body ! Nobody knows your body better than yourself.

Sad thing is we read these concerns here and there from people that actually don’t want to believe it and they are actually told not to believe... meanwhile cmt keeps getting worse and tiring and wasting muscles & nerves leading to Death.

At the A&E I had medical students come see me... HEART MEDICAL STUDENTS! Could neurologists and doctors be getting close to TELL US WHAT WE BEEN SUSPICIOUS AND KNOWING ALL ALONG !?

And finally look after our lives and futures just a little bit better ...

Thank you and I encourage anybody else whom find hard to admit and talk that know to speak up and help us all in this journey together we can cope and get stronger to deal instead of treating us as if we are just a code a number a patient..


I won't comment on all of my issues with my CMT but I've been telling my husband for years now that the CMT websites that say "non life threatening" and the so called only muscles in your extremities is a bunch of crap. Mind you, all CMT sufferers have different symptoms but to lump us all together and then have people question you because your CMT is not the same as another is unfair to all who suffer with this disease. I know of a person, a wonderful woman who died last year of complications from her CMT she was 47. I don't believe anything but what my body tells me and my body tells me there's so much more than my extremities which is the least of my problems. I thank you for sharing your story.


Jilybeans Thank you, we are struggling with the symptoms already but then somehow we carry on (speaking of myself) but the most that I been struggling is with this (secret) CMT, I avoided situations places and people all to make myself comfortable with my cmt little did I know I shouldn’t have done that, but the CONFUSION the almost unbelievable feeling that we have that it’s actually a serious disease that we have and that it won’t go away or it won’t stop or even get better, it’s been too much for me, maybe I’m at a point where I need to get more strength from somewhere maybe it’s why I got courage to subscribe on here and rant about my experience my story my frustration, I have come and gone from this site page it has hit home almost always it’s very though reading someone’s experience and relieving it all it’s unfair to know that this “thing” is still out there being diagnosed on children or anybody, I’ve always believed through my power of strength and will that whatever would happen I would never be beaten, I was 19 when I given a wheelchair and from then on I changed studies, anyway I don’t want to bore you with it because my experience it’s not much different than any cmt person, no matter what’s said that “affects more in some than in others”... reality is I’m in my early thirties I’ve como long way but at the same time I had to learn relearn cope change you name it, I did everything without complaining, lately specially last two years I have grown to be frustrated angry with myself for not trusting my body because I was told different by the experts so in a way I ignored, I’m sure I’m not the only one, we have pain we have something else that grabs our attention and won’t go away we keep it to ourselves, almost we giving ourselves excuses like “ maybe I did something wrong that it caused these pains or this n that” in my experience I never come to know what have I done wrong so I distracted myself with something and avoided anything that it might have caused the pain the weakness the discomfort...

It’s the Replies given to CMT sufferers on here and other places, when they ask Worried and concerned about symptoms that they truly take serious enough that I’m sure it’s what made them google for answers and subscribe, The questions are so serious and the replies are so patronising . It’s upsetting for me, and I know for others who are going in this journey that find things getting different things dangerously different , that we really only have ourselves to get answers from, we wait and it’s still there won’t go away, then people around us notice and question us, and we don’t have answers for them because our body tells us something but the “official “ literature doesn’t make sense of what’s happening to us, again I speak in my own experience, I absolutely understand CMT is not yet a disease that doctors know 100% neither neurologists do, However neurologists know everything about the nervous system they know if and when a nerve is damage they can find why and how they might not tell us it’s CMT caused but there’s no other explanation.

Jilybeans, you’ve said better than me, We know our body, we know our body... if there’s something bothering that won’t go away I say Investigate and don’t think “I’m imagining” even if it’s nothing something else might be found ... like it happened to me, I’m nit good with words, I’m sorry if I’ve made anyone anxious, I am anxious but it doesn’t mean that we don’t have reason not to be and we shouldn’t let anyone tell us otherwise.. “trust but verify”, in my situation I don’t know what to do because I don’t have anything else, im still processing why’s happening .

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There are a ton of scientific articles and studies. Two are below. Thank you CMTSecrets for your comment.

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Thanks jilybeans, I have been told I have diaphragm elevated dysfunctional due to phrenic nerve palsy, my lungs are weaker they just collapsed because I forced myself to continue speaking and tired myself apparently I wasn’t finishing my sentences saturation were low erratic heartbeat, at the hospital blood tests showed 82% oxygen in the blood, done pulmonary dysfunction tests that showed weakness than the last test I had back in June, now I must take pulmonary tests every 6 weeks. I was at the a&e Hospital on the 1st November left on the 8th then went in on the 22nd November and I just came home on the 3rd December...

seen by a respiratory consultant and told everything I was suspicious and fearful it’s actuAlly true it’s happening... the biggest shock/Surprise was that the lungs look very weak easily get fatigued and collapse therefore the breathing problems, I feel uneducated on all of this, my explanation for my breathing problems was true tiredness the fatigue then the shard stabbing pains on my chest and under my ribs both sides that if I don’t rest it doesn’t let me take deep breaths it feels heavy weak tired I go to sleep mode right away I won’t know how to converse it’s like I’m unconsciously drunk, I force myself to breath and stay awake and alert but it’s almost like my communication it’s trapped and my body wants to force me to sleep...

I did sniff test lung/pulmonary tests, Video camera tube down my nose checking swallowing and vocal cords, sleep study...

I think the confusion to understand what’s happening is due to the name-CMT- when I used to read about it I felt that wasn’t much said about what’s I’m going through but by reading-NEUROLOGICAL DISEASE or NEUROMUSCULAR DISEASE, I find there’s too much similarities to what I’m going through and I feel relieved in a way that I identify myself with the simptoms that is impacting more negatively on my like, breathing and speaking/vocal cords

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I have cmt 1a, and have always had issues with breathing and other lung issues, I was told nothing was wrong cause they checked for asthma and other breathing issues was basically told it was in my head like everything else that I had problems with growing up till I was diagnosed, didn’t know I had cmt till I was 40, I am the ONLY one in my family that has this disease, I am a spontaneous mutation, which was also years ago unheard of. The breathing problems seem to be getting worse and it’s always when I lay down or when there is pressure ( like my bra is to tight). I don’t think everyone gets these breathing issues but there are ALOT of us that do. I think some of the people on here that don’t believe that it isn’t a cmt issue, should venture out of this chat area and talk to other group around the world, you will see that these breathing issues are more of a problem then you think, I also know from my own experience and reading about others that it DOES affect more then just your legs (knees down) and hands, it’s getting a doctor to believe you that’s the issue.

I don’t think CMTSECRETS is saying that EVERY SINGLE person that has cmt will have these issues, but what I think she is saying is it’s WAY MORE COMMON then we are lead to believe and to know the signs and symptoms and watch out for these signs and be a advocate for yourself and fight to be looked after properly and make them take care of your life threatening issues. I have also wanted to add that I have heard of 10 PEOPLE through talking to people through Facebook that have died from these issues CMTSECRETS talks about.


I feel the same way, my phrenic nerves are affected too, and so many others I know, yet because the lie is it doesn't kill you and nothing or very little is said about the Phrenic nerves being affected, I wonder how many are suffering and dying, also because they are in denial about this. The Neurologist then also no nothing about it, I educated my respiratory Dr... The rest were trying to say it was because I was over weight, but when she did the full tests, she then showed them it was the phrenic nerves... in my case working at "up to 48%".

I have been angry that they deny this too <3 I have CMT 1A.

I use a Bipap machine, which helps me get some sleep now and not be oxygen deprived through the day..


Thank you -GrannyMaz, for sharing your experience with your CMT, it gets to me when I read cmt sufferers asking for help about their symptoms and they are just told to exercise because their overweight or that they must change diet, CMT is a neuromuscular progressive disease it affects nerves and muscles, my experience is don’t ignore anything that is making you uncomfortable health wise, bring up with doctors keep insisting to get it checked, don’t let someone convince you that they know your body better than yourself.

When I read someone with cmt complaining about how tired and fatigued they get that’s getting more more worse compared to previous situations, I’m not expert, in my view as cmt person, I want to say to that person, please stop immediately when you feeling out of breath, please don’t continue forcing your body, see it as a warning Signal that your Muscles have had enough please don’t force them is likely the nerves are affecting those muscles that they are so tired that they’ll be wasting away and deteriorate if ignored and being forced upon, we cmt (in my opinion), are very strong motivated brave people, we don’t complain or bring up something if it hasn’t been affecting our lives and impacting our health for a while!

It’s imperative that everything to do with respiratory discomfort, breathless, out of breath, However “silly” we might feel about it when it happens and how often, Must be taken very serious, the earlier a cmt person gets help and gets it managed the less strain on the muscles and nerves, I believe as I read from above replies it is us who know out body and us who can try and teach doctors on our symptoms how it impacts on our daily lives. Being informed we can be more proactive on dealing as best as we can understand on our CMT. I’m sorry I feel very strong about this, Don’t suffer in Silence thinking it’s your imagination that you’re imagining it, Tests and Exams will give the answer.


Yes I got to the point where I almost went to sleep while I was walking at the shops, and rushed home to collapse, thought that was weird and then my Dr sent me to the Sleep clinic where I was diagnosed with the phrenic nerves not working and affected by CMT, but if they would talk about this more on the Official CMT sites then people might be able to get help sooner.. Oh well at least i have brought it up in several CMT sites and helped others to go get help..

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Thank you grannymaz, yes you have helped, you are helping. Yes!


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