Possibly CMT - continued

Possibly CMT - continued

Dear all,

I've been referred to a neurologist (2nd neuro, first was 4 months ago) and she did a clinical exam and concluded nothing was wrong with me :-/

I cannot not walk on my heels anymore and my leg muscles tire very fast and just stop giving strength. She asked me during testing why I don't want to(!) keep my leg lifted. I answered I do want to but can't. When I told them I use a wheelchair when I go to a museum they looked at me as I was a huge fraud and asked me really?

They wrote down in their report that I can do all exercises and they I am possibly depressed(!). They advised me physiotherapy for my weak muscles. I had physio exercises for months without effect, I will now start again.

I immediately went back to my GP. He said he is concerned about the atrophying muscles (see picture) and will think about how further. The man who fitted me inlays asked if I had been to the neurologist with this feet. I said I've been twice without any result. He looked to me with disbelief.

Sometimes I really feel I'm a fraud but my body and my legs just fail me and than I wonder am I really? This cannot be normal for someone like me who is an active outgoing life enjoying healthy eating person...I haven't seen these mobility issues at any of my relatives or collegues and I know a lot of people.

So feeling pretty low now...

18 Replies

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  • I was just looking at your last pictures too and your feet and legs look very pale. Not something I see on my wife with Cmt unless she is ill with her CROHN's which she has as well. What is wrong with the medical profession they should be sorting you out by now as to what is wrong!

    L.

  • Thanks logicman for your fast reply!

    Yes, my legs and feet are very pale and icy cold since they trouble me with walking, thus since almost a year now.

    I cannot get them warm anymore like before, even wearing knee-high stockings in bed (two layers of winter quilt on it).

    Very interesting you mention Crohn's disease with your wife. I hope she is well now cq CD is managed by medicines.

    I also once had that diagnosis and that is now altered in ileitis unknown cause. But if I don't take Entocort/Budesonide (minimal dose 3mg a day) I have terrible pain, loose weight quickly and have over 12 stools a day. I'm very happy to have found a specialist that subscribed me Entocort again after a period I didn't take any medication because others said it was IBS (despite the ileum biopt that said large chronical inflammation and the fact IBS medicines didn't work). I almost lost my job because it...

    I think if people have an AI disease they are susceptible for more AI diseases but also more other diseases.

    I ask my self again and again the question you pose. What is wrong with the medical profession?

  • IBS means I'm basically stumped in the medical profession or so I am told🙂.

    My wife was ill on and off for years which they all passed off as IBS Even after collapsing in supermarket and being taken to AandE by ambulance they said something was going on but didn't know what. She then started with central nervous system symptoms and liver problems before a colonoscopy was ordered. Ulcers as big as my thumb nail and inflammation all along her bowel was discovered. She is never well now but I wonder if it had been found sooner maybe it wouldn't have got so bad?

    L.

  • LOL, like your explanation of the abbreviation IBS!

    I understand your doubt about if Crohn would have been found earlier. I'm so sorry she had to suffer that much.

    My suffering was different. I cried approx 1,5 hour after a meal because of the pain, lost 22 kilo's (from 76 to 54 kilo in a short time, I'm 1.75mt tall) and maybe the worst was that I pooped in my underwear sometimes when I couldn't reach the toilet on time - it put me in a social isolement :-( One specialist, one of those that believed I had IBS, actually old me to wear diapers as solution. Unbelievable!

  • hi Patricia,

    I'm so sorry the second neurologist was so determined not to see the obvious, and to be unhelpful. No wonder you are feeling low. It may or may not be CMT but, I should have thought anyone can see that your feet are not "normal", and that there must be a physical reason for your inability to walk on your heels, or to walk at all for more than a few minutes.

    At least your GP seems to be supportive. Is he able to look for a third neurologist for you, or are we only allowed a first and a second opinion ?

  • Thanks Amanita for your swift answer.

    Some doctors just don't want to see the obvious, combined witha total lack of empathy they just dismiss you instead of helping out a fellow human being with struggles.

    My GP seems supportive and I hope he will help me. Either by sending me to a third neurologist or maybe tot a rheumatologist as I also suffer from a connective tissue disease and currently have bursitis in my both hips for almost a year now. Thankfully, after 10 months of suffering I got a painkiller from my current rheumatologist (the first ;-), but she just waits till things get worse and with my legs and feet she just told me the same, wait and see) and I can sleep now without pain.

    I'm not sure if I'm allowed a third opinion but I consider visiting a MD in Belgium. I was there before with other problems (suspected Crohn's Disease) and the consult was really cheap.

  • Hello to Patrica2015......

    >Your recent post on "Health Unlocked", is another typical case of total patient "frustration", with our current UK's NHS Consultant Neurologist's treatment, and their lack of a positive diagnosis of Cmt Disease, and including it's many, and varying 'sub-types':

    >A clinical/phyisical/neurlogical examination alone, will not confirm if the patient definitely has Cmt Disease:

    Cmt is an 'inherited', and "progressively worsening" neuro musculoskeletal disease, which will last throughout a Cmt 'sufferer's remaining lifespan:

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    >In Cmt a clinical examination, your body's individual reflex points are tested, and a detailed family history are taken down ?

    Why ?

    Simply because you cannot "catch" Cmt, as it is classified as an "Inhertited-Neurological-Disease', usually passed on by a parent to their "offspring(s)":

    However, it is 'NOT' an infectious disease, and you cannot "catch-It":

    >Over the preceding years, I have noted that many of our UK NHS Neurologist's patients standard of diagnosis, and 'follow-up' care have now become like 'postcode' lottery, and depends on exactly where you stay, and how much funding your local NHS Trust has available:

    --------------------------------------------------------------------------------------------------------------------

    Today, UK NHS Consultants are now allocated a strict, annual financial budget, that they all must adhere to:

    >If further hospitalisation / diagnosis / treatment is required, they then have to submit a "fully-costed" treatment plan to the hospitals "non-medical" financial management (non-medical) team to await their approval, and approve if the finance is available :

    --------------------------------------------------------------------------------------------------------------------

    >The confirmed diagnosis for Cmt Disease normally should be ?

    1)> A detailed family history must be taken down, to identify the source, and what parent passed on the Cmt gene mutation" ? Or a referral to Clinical Consultant Geneticist:

    2)> Clinical physical examination, all the bodies reflexes points are tested:

    3)> High-Arches (Pes-Cavus), severity checked using the 'Coleman-Block-Test', this is usually done after a referral to a Consultant Orthopaedic Surgeon, who is a specialist in foot, and lower limbs problems:

    4)> Blood / DNA Test, samples usually sent to 'specialist' University Hospital:

    5) Cost to your local NHS Trust £8000 / £9000: Now let's remember your NHS neurologist's budget ? Can this cost be avoided, by not ordering 'blood-tests' ?

    Is the cost of this expensive test to the NHS Local Trust, be the real reason why so many neurologist's are reluctant to order this DNA test ?

    6)> Nerve Conduction Study, (uncomfortable) measures the 'velocity' (speed) of your peripheral nervous system: between your brain, and your various "lower-limbs", plus your hand's muscle groups:

    7)> Motor Nerves, or (command-nerves)> brain sends instructions to your bodies various muscle groups:

    8)> Sensory Nerves, (feelings/sensation), are sent back to your brain to alert it to your (feelings/touch/giving/ transmitting information etc):

    9)> In Cmt Disease the 'velocity' (speed), can be reduced by as much of up to 60%:

    10)> Therefore as a result, over a very long period of time (lifespan), your muscles will 'STILL' continue to 'waste-away" (atrophy) entirely due to a much reduced, and weak electrical "wave" signal(s) being received from your brain, to your bodies various muscle groups:

    11)> This then in turn, causes, poor balance / walking gait / high arches / 'drop-foot' / tiredness / clawing hands fingers / tight achilles tendon / hammer toes / fatigue / loss of your 'fine-finger dexterity etc, etc:

    --------------------------------------------------------------------------------------------------------------------

    However, do not ever give up, until you get a total confimed NHS neurologist's diagnosis, of Cmt Disease, and it's particular sub-types:

    > My final note of caution to you, is that you "do-not" rush into any orthpaedic procedure or, any proposed operation, as whatever the surgical benefits maybe be promised, always be "ca-canny" (scottish saying, proceed most cautiously) as no matter what the tendon / bones / muscles repositioning orthopaedic surgical options are, please always remember that despite any surgical intervention, surgery is a "trade-off" ?

    Yes, you may "gain" something, however you may also "lose" something ?

    Also most surgical interventions, are irreversible:

    ------------------------------------------------------------------------------------------------------------------------

    Surgery does not, and will not "STOP" Cmt Disease:

    Your defective myelin nerve insulation/ sheathing (wax-like-substance), which wraps around, and insulates your peripheral nervous (Motor & Sensory) system will continue to leak, during your remaining lifespan, resulting in further 'muscle-wasting' (atrophy):

    Quick Test :

    Place your left-hand (palms down) on a table, spread your 5 fingers as wide as you can: Make them 'rigid' to resist any 'pushing' movement:

    Now take your 'right-hand's thumb, and place it against your 'left-hand's thumbnail: Gently, with your 'right-hand' thumb, try to push your 'left-hand' thumb towards your 'left-hand' forefinger: If your 'left-hand' thumb easily touches your forefinger, then this indicates that your 'Brevis' muscle, a fleshy muscle sited between your thumbs, and forefingers is missing, or totally wasted ? Repeat for 'right-hand' !

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    > PLEASE ALWAYS REMEMBER THAT YOUR REMAINING MUSCLES WILL STILL CONTINUE TO 'WASTE-AWAY':

    Best of health, to you and your familly,

    John (Glasgow)......

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    Ps...... I am puzzled by your recent reply, in which you stated that you currently reside in Amsterdam (The Netherlands) and you have Dutch health insurance ?

    Why then are you posting your Cmt Disease problems on a Health-Unlocked, which is primarily a UK based website ?

    I personally have no knowledge whatsoever, of how the UK's NHS Service, compares to "The Netherlands" Health Service......

  • Hi John,

    Thank you for this swift and comprehensive answer, really helpful!

    Actually I only know from my mother that she always had (very) painful feet despite inlays and that when I was a small child I couldn't walk properly. Since then I wear inlays. My father is healthy. My brother died when he was only 24 y/o in a traffic accident :-( and was healthy till then. I don't know about other relatives because many are dead and with the living we don't keep contact.

    I have no idea if they checked all reflex points. I only noticed the foot sole reflex that I have Babinski reflex or indifferent big toe reflex, depending on the test (my podotherapist said my dorsiflexion is very weak).

    The neuro didn't say or test anything about my high arches. Next time I will ask for the Coleman-Block-Test.

    Yep, all these tests are terrible expensive and a persons' health isn't that important I guess :-(.

    Btw, I live in Amsterdam (The Netherlands) and have a Dutch health insurance but it has the same problems as the NHS.

    I've had a nerve conduction test a year ago in my forearms/wrists and the results were normal then. Back then I only had pain and troubles in my hips and upper legs.

    I'm really worried about wasting away of muscles. Maybe I just imagine it but I sometimes think to see that my thumb muscle is also smaller than it was before. When I stretch my hands there is still a muscle there bit I also see a lot of grooves and "stripes" crossing the thumb muscles. In pictures it resembles thenar atrophy a bit.

    I notice my balance isn't that good as it used to be. When I change direction when I stand (this standing on one foot) I'm looking to find my balance. I never had this. Tiredness is one of my big problems for the last almost five years I've been sick. My achilles tendon is tightening and shortening. When I lie flat on my back in bed but toes almost touch the bed, the used to point towards the ceiling.

    Thanks again for your elaborate reply and best of health to you and your loved ones as well!!

    Patricia

  • Ask for a electro conductivity test to determine or dispell Cmt. Most experienced. Neurologists can determine what is going on by this confirmation /blood tests . There seems to be no one similarity in each who live with Cmt. I've lived with it for all of my life having it diagnosed four years ago and it taking an acceleration in the last two to three years. Cmt can manifest later in your life having been dormant. I agree with some of John1945 comments in as much that you must not give up until you have a personal confirmed diagnosis from a medical professional. We are all experts in our own lives, not each other's.

  • Thank you for your reply steveshawx!

    Feeling sorry for you that CMT has taking an accelaration in the last two/three years. It is always hard if your body cannot keep up with your mind. Hope you can manage it.

    Did you know before your diagnosis four years ago you had CMT?

    And you're absolutely right that we are all experts in our own lives (and not each other's). I wish more doctors would really listen to patients...

  • Can you bend your toes up?

    Is the muscle between your finger and thumb depleted, meaning missing?

  • Thanks goldenmist for your fast reply!

    Yes, I can bend my toes up, the smaller ones more difficult.

    I'm really worried about wasting away of muscles.

    Maybe I just imagine it but I sometimes think to see that my thumb muscle is also smaller than it was before. When I stretch my hands there is still a muscle there bit I also see a lot of grooves and "stripes" crossing the thumb muscles. In pictures it resembles thenar atrophy a bit.

  • CMT affects the hands to the wrists and the feet to the lower (calves) legs

    If you have wasting of the calves and the muscle that I mentioned between the thumbs and the index fingers, you have CMT like me.

  • Coming to think of it, you may have the none genetic version of CMT, which is CIDP.

  • Sorry I meant non-genetic version of CMT

  • I understood that :-)

    Thanks, I looked this CIDP up. There are many similarities and I've also read that you can have bladder issues like not being able to empty the bladder fully cq urine retention. I experience that about from the same moment my mobility issues started. However I'm quite certain I do not have one of the main symptoms and that is absent or low reflexes. Sometimes they have try 5 or 10 times to get a reflex but they get one at the end and wrote down there is nothing wrong with the reflexes.

  • Hello everyone,

    Just a quick status update.

    My GP didn't receive the final conclusion of my second (second) opinion yet, not even the blood results despite several calls of myself and the GP's assistent to the hospital asking for them.

    I went back to my own neurologist, he sent me to the two academic hospitals for second opinions. He didn't receive the second opinion report either but agreed with me that the my feet and leg changes, and the fact I cannot lift my forefoots well when walking, were odd. He is willing to do another nerve velocity test. I had one a year ago in my wrist but now he will do one in my legs. This test will take place in mid February and I will keep you updated.

    A week ago I got new inlays. The guy who fitted and made them told me to go to a neurologist with these feet. LOL.

    The good news is that the most terrible pains in my feet soles are gone, I still have pain around my achilles heels and ankles and still very tired feet but at least no agony after standing for 10 minutes...

    For now, thanks for listening or reading ;-)

  • I'm glad your GP is continuing to be supportive, Patricia, and it must be a tremendous relief to have better insoles.

    If your blood test is a DNA test designed to look for gene mutations that cause CMT, it can take quite a few months (mine was nine months) to get a result. It is a very specialised test, and I guess they wait until they have enough specimens to make it more economical (it is still some thousands of pounds).

    I hope the nerve conduction tests will reveal some helpful information.

    Referring to one of your earlier posts, changing direction while walking can certainly cause loss of balance , particularly if you do it suddenly.