Charcot-Marie-Tooth UK
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Poor help from NHS and doctor

Hi,

I have the belief I have CMT, I have been to see a Neurologist who took blood samples but has not really come back to me with anything more than "Kappa chains" were out of tolerance.

I've had nerve conduction study which was reported "moderately severe axonal motor sensory neuropathy"?

All this has taken since 1st visit in September 2016 to date. No follow up apps have been made until I phoned the neurologist secretary to ask what is happening? I now have an apt for October 2018.

As no one seems to have concern about my condition I am worried that the next apt will result in another years wait?

I feel so bad every day, hardly being able to walk downstairs in the morning, sleep is very difficult, after an hour or so the legs realise they have to work and the day improves.I've lost huge amounts of muscle in both legs and arms.

The worst thing right now is the head which feels like "the lights are on but no ones at home"

I'm almost 73 and can tick most of CMT's boxes and it has been said "I'm surprised if you have this disease " by a private neurologist.

I have 3 young children 23-29 and am worried about them? They also have raised arches.

Aly thoughts ?

11 Replies
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Dear dji45,

It sounds as though you have a Type 2 CMT with fairly late onset, which is less common than the demyelinating Type 1A. I am now seventy and have an axonal CMT. I didn't really have problems with CMT until I was in my fiftes, but now I know how you feel. Your neurologist is possibly a bit embarassed as all he/she can give you is bad news; there is, unfortunately, no cure and the only treatment is to try to alleviate symptoms as they arise. You will appreciate from reading posts on this forum that these are not especially effective. However there are some things that can make life a little easier and you should ask for all the support you can get from ancillary professions. Your neurologist should be able to refer you and may be happy to be able to do something. Orthoses can make walking less painful and help to prevent further deformity, surgery can help some cases, the occupational therapist may be able to help you cope with everyday life, the pain clinic or the falls clinic may have something to offer and a clinical psychologist may be able to help you cope with the depression and feelings of despair. Getting a diagnosois like this is akin to a bereavement , you grieve for the life you were expecting and no longer have, for the things that gave you joy and are no longer possible.

The mutation causing my CMT is as yet unknown, but it is a dominant autosomal one as my father and sister are all affected and her children show signs of foot deformity. Your children may not be able to get a definitive genetic diagnosis, but it is important to get the possibility of CMT on to their medical records and for them to push for assessment when and if they notice signs that they are developing CMT. They will know how it has affected you and should be on the look out for early signs. As I said I was not seriously affected until I was in my fifties, but looking back I realise that I first saw a doctor about an early sign when I was 25. At that time it was dismissed as 'one of those odd things'. Early recognition of the problem means that measures can be taken to slow the progress of the disease. Don't let them leave it, as I did, until their ankles are falling apart and extensive surgery was the only answer.

Best wishse,

RE Green

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Hi RE Green

Thanks for your response, my big issue is not being diagnosed one way or the other? If I've got it I've got it? If I haven't then whats wrong with me?

All the comments on CMT are like "went to doctors ,they referred me" bla bla bla.

My GP didn't even know what CMT was!!!!

The time scale of me trying to track this down is ridicules ,as said I even went private only to be told "I would be surprised if it was CMT" but if you would like to come and see me in 3 months I'd be happy to see you? Yeh I bet he would for another £245.

Does anyone know a short route to diagnosis?

Frustrated.

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Dear djl45,

Sorry, I don't know a quick way to diagnosis. My father died without being diagnosed with CMT, but was diagnosed with, and treated for, a number of things he didn't have, which did nothing for his state of health. My GP said, once I had bypassed him and got a diagnosis from an orthopaedic surgeon in Glasgow, 'Well, it's vanishingly rare, you can't expect me to have seen it.' Neither true and even if he hadn't seen a case before, I would have expected him to recognise that there was something worth referring upwards. The majority of cases of CMT are of demyelinating types and many have straightforward genetic tests so you can get a quick answer. As you and I both have axonal type 2 CMT the situation is not so clear cut. Our family have a mutation which has not yet been identified and the same may be true for you. Some neurologists may be unwilling to give a definitive answer in the absence of an identified genetic cause. Remember that having a diagnosis has implications for your driving licence, for life insurance, holiday insurance and for employment. However you have a family and there are consequences for them of your disease and you do need to persue the diagnosis for them.

If you live within reach of London or Glasgow try to get an appointment with a Centre of Excellence for the disease. If you are able to see Prof. Mary Reilly at UCHL you will see what can be done for for people with CMT. Although the disease has been known for well over 100 years, it is still latgely unknown to GPs and to some none specialist neurologists, so push to get onto the books of a CMT specialist. Neurology is a big field and not all neurologists deal with the peripheral nervous system.

The best of luck,

RE Green

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Hi Now you've really spooked me by saying it will affect my life insurance, driving licence etc, if these are affected there not a lot left?Should these bodies be notified if theres a possibility or wait for diagnosis?

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Dear djl45,

Sorry if I've given you more things to worry about. CMT is a notifiable condition of which you have to inform DVLA. They will consult your neurologist and put you on a three yearly renwable licence. For me and my sister it was not a big issue and, after the first time, new licences came through without delay. As you have reached seventy it has happened anyway. You should inform your insurers as well as they may default if you have an accident. Holiday insurance can be a problem, but I have found that Saga, although not the cheapest, make no fuss over CMT. My husband's cancer was a far bigger issue and that is ostensibly curable.

Life insurance, if already in place, will probably not be affected but it might make it harder to get a new policy, but there are firms that claim to cater specially for older people and those with chronic conditions.. If you don't have a firm diagnosis it probably OK to wait, as you don't really know for certain what is wrong with you. It is a reason for pushing to get a diagnosis. Only you know whether your capacity to drive safely is affected by your condition. I know how you feel about the thought of not having the freedom to move around under your own control as my last surgery it taking much longer to to let me walk and drive than I ever expected.

Best wishes,

RE Green

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Hi, djl45,

RE Green has given you some good advice.

If your neurologist took blood samples it might have been to send away for testing to determine what type of CMT you might have. Results do take a long time to come through, but he/she really should have received them in under a year! Mine were unusually slow and took 9 months. You should ask.

Sounds as though your neurologist might not actually know much about CMT (not unusual, unfortunately), but you do need to have some help with the symptoms eg painkillers - and maybe to be referred to a physiotherapist for exercises , and possibly an orthotist who might help with adapting/creating footwear to make walking easier (less difficult).

Before you see your neurologist in October you might find it very useful to write down a list of your queries, concerns etc, and print 2 copies - one for you as an aide-memoir so you don't find you have forgotten to mention something important - and the other to give to the consultant so he/she has a copy of the "agenda" - he will know what to expect, and it will go in his files. I find this approach goes down well - and you are showing that you are methodical and seeking to make the best use of the appointment. Don't be afraid to pause( briefly ) to write something down if it means you will remember it. If you are fortunate enough to have a friend/spouse/relative who could come with you- they can help a lot with recalling what was said.

If unfortunately the appointment proves unsatisfactory you should ask to be referred to a different NHS neurologist. You shouldn't have to go private.

Best of luck!

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Thank you Amanita for your words of wisdom, much appreciated.

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I turn 50 on Sunday 2nd sept. Yet I often feel now like a 80,85 yr old I can relate to the lights being on but nobody is at home which the so called professionals seem to not admit or accept that this is s symptom of cmt but I have put it out there and many agree they feel the same. I argue that cmt effects the central nervous system which is connected to the brain and believe they are wrong. I have what i call bad head days where I feel like a tit in a trance and find it extremely difficult to accomplish any thing. I get all the usual stuff like numbness, pins & needles all sorts of sensations hyper sensitivity issues. I try to do what I can even I can mainly to keep up blood circulation which I feel is the most important issue. I have other health issues probably caused from having cmt and believe cmt can be more serious than we are lead to believe. Yet the assessors still made the decision that I do not have limited capability which I find ridiculous and unbelievable so.now I am yet again waiting to go to court to fight my case, which I have previously done and won after only 15mins.so hopefully they will find in my favour once again, if not that will also be devistating as 4 or 5 yrs on I am worse than I was then so can't see how they could come to any other decision than last time. It is really difficult to maker people realise what it is like living with cmt all I can say is if you are able to carry on doing what you do then carry on, if not you need to fight for your corner and all of us cmtrs.

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Thanks for your input. Numbness and pins and needle are a factor in my life, hard to sleep with this going on? Waking in the morning feels like not waking and walking downstairs is an effort until getting going for a bit.Whilst walking my dogs I feel like I could close my eyes and sleep, not from tiredness but the "head thing"!

The head thing is the worst scenario for me the rest I push through although the muscle weakness hampers me a bit with work.

It may not be CMT but with the NHS and my doctor I'mv sure as hell never going to find out?

All the best to you.

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Hi, I am waiting on seeing a Neurologist, not sure the waiting time for this, but at least it is in the pipeline. I have had lots of signs of CMT for a long while, but not recognising them went on about living and struggling a lot. This last year to 18 months things have deteriorated a lot in both my legs and arms. By sheer chance I found a new Consultant for a inherited Myopathy I was diagnosed with in 2001/2 (told then no cure just get on with it and no follow-up just get GP to help with symptoms bla bla) which I have done. GP would not consider more pain relief, how professional is this and no referral either. Now that I have this new Consultant she is referring me to Neurology, Dermatology for a skin biopsy, Pain Clinic for pain control and Human Genetics who I did see in 2001/2 for a further DNA test for 2 conditions. I feel extremely lucky this is happening and now I will not stop till I get an answer. Sometimes it is easy to get complacent when you are not being followed up and feel that no one gives a damn, but now I am re-invigourated. So however long it takes I will get some answers. I have some horrible down days, but mostly I aim to be positive and get on with what I can manage. Do not be afraid or embarrassed to ask for help that is what these so called professionals are there for. Keep trying for answers. XXX

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I have had the sames problems. My nueromuscular doctor is calling my condition CIDP. It is similar to CMT. Except CIDP is an autoimmune. I am going to have ivig treatment for this condition. I do however have a grey area on my genetic testing. The doc does not believe it is that yet because this type of problem starts as a child. Who knows. I am just praying the ivig treatment works. I am so weak sometimes.

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