Confused

[Pixieboothman]

Hi all , I'm completely confused I was diagnosed with Cmt last year . I am 57 years old and spent so many years being told I was clumsy and falling over, I was sent to an array of different doctors to the point I was beginning to think the symptoms I had was in my head, anyway to cut a long story short at last I went to a docter who realised the terrible spasms I was having in my legs was a neurological problem I then had an Emg which showed servere sensory and motor polneuropthathy which led to having a gene test then came along the diagnoses of cmt1 . But the plot thickens they also did a nerve biopsy which showed something that my neurologist had never seen he then said I could be candidate for immunotherapy and he sent my results of the biopsy to Mary Riley that was 4 month ago and then nothing . So my confusion comes why Is there no rush everthing goes at snail pace and is this delayed having a detriment to my condition would love some feed back on this please .

[Amanita]

Hi, Pixie,

I'm not surprised you are confused.

At least they reached a diagnosis in the end which explains the "clumsiness" and falling over, which must have been bothering you for a long time. I had an unofficial diagnosis out of the blue after a very cursory examination and absolutely no help or advice - when I was 40 (very long story). Because of the circumstances i just buried the whole CMT thing under my psychological carpet. The only advantage was that I was able to dig out the name many years later for my baffled GP when i was getting into serious difficulties and decided to get it investigated properly and seek help.

Some (mostly rarer) types of CMT can be very severe, so you and I are lucky if we have managed to lead relatively normal-ish lives. Typically CMT "progresses" (i.e. gets worse) very slowly over your lifetime, with the deterioration only becoming apparent to you when you find something you could just about manage becomes impossible, and you feel you have gone down a step after a period of apparent stability. The point I am making is that generally some delay will not make a huge difference to something which is simply slowly following its course.

It is probably more important in the short term to seek practical help with dealing with the symptoms and effects of having CMT than even determining which type you have.

So you may be given exercises e.g. for balance by a physiotherapist or advised to use a walking aid, or you may be referred to an orthotist for something to help you pick up your toes instead of tripping over them (I could never understand why I would step high over an obstacle but still manage to trip over it, or turn my ankle on the one minuscule pebble on a perfectly flat surface and fall over).

I am fortunate not to have frequent bad spasms with my type 1A, but do occasionally need to take medication for cramp. But we are all different. Even siblings who have inherited it from a parent will experience different symptoms to some extent, and different degrees of severity.

Is there any evidence you could have inherited your CMT from a parent (the most common way of acquiring CMT - each child of an affected parent has a 50 per cent chance of inheriting it) . In retrospect it is clear to me that my mother had CMT. She died when I was in my 20s but had high insteps, an awkward gait and fell rather often. She inherited it from her father, but I have no idea if she knew she had the same medical condition as her more pampered "poor little" sister. Knowing which type of CMT you have is probably most important in the short term if you have children. If/when they ever come up with a cure or treatment for an individual type, then you would need to know.

I hope Prof. Mary Reilly will eventually be able to explain and advise on the phenomenon which baffled your neurologist.

[beachwine in reply to Amanita]

I know what you mean. I was always told & family told others, "poor thing, she's weak"

[Amanita in reply to beachwine]

Aah, that was my "poor" Auntie.

My mother (i.e. her sister) was treated as "normal" - as she and my father (and everyone else) treated me. One just had to get on with life, and if Life included horrible beastly school "games" lessons and gym, too bad. No allowances made, though it was obvious I was abysmally rotten at both. I had absolutely no idea why this was, as there was "nothing wrong" with me.

Needless to say "sport" is a very rude honorary four-letter word in my estimation.

I don't actually know which attitude is worse !

[beachwine in reply to Amanita]

7th grade gym class. It was tumbling day. You had to run about 15 feet drop and do a sommersault. Obviously I couldn't do it after several tries. The female gym teacher loudly said to the male gym teacher " that girl is so pathetic". So embarassing. I was much taller than the other kids, skinny, and wore glasses. I endured names like beanpole, four eyes, and questions like how's the weather up there. I agree sport was a four letter word! CMT explains a lot about my clumsiness & lack of coordination.

[REGreen]

Dear Pixieboothman,

Things do move slowly, but if you have been referred to Prof. Mary Reilly you are on the books of the best. My sister waited almost a year to get an appointment, but felt it was well worth it. If you are a candidate for immunotherapy, you are lucky. For most of us there is no treatment other than dealing with symptoms as they arise. I have a friend with polyneuropathy which is not CMT related and he benefits from immunoglobulin infusions at three week intervals.

Although CMT has been known for more than 100 years there is still widespread ignorance in the medical field so many GPs will know nothing about it and fail to diagnose or even realise that symptoms should be referred upwards. There have been many new developments as genetic studies progress so fast now and by seeing Prof. Reilly you will be in the best hands to get full benefit of new data.

Good luck,

REGreen

[spabbygirl]

Hi Pixie, I had a similar story, my parents had no CMT and that was proved by genetic testing so my condition is a 'new mutation' the gene went wrong at conception. I think this gov't are deliberately running the NHS down to force us to go private, hence the long waits for appointments. The two replies before mine give very good advice.

[GrannyMaz]

Pixie, I can recommend you join a CMT group on Facebook, they give out heaps of info and support to their members, there are official groups with the CMT associations and other groups which are very good, like in America there is CMT Stand By Me, and in Australia there is CMT Unites us, these groups support and don't judge they also have information for members to find out what is going on, also I google most of my info as not lots is known by Drs, also the best thing for finding help for CMT is if you can visit a Dr at a Centre for excellence . hope that helps some.

[Pixieboothman]

Hi Grannymaz thank you for your reply I will do that , I haven't heard anything back yet from my neurologist but hopefully I will soon. I also google , how would I go about getting an appointment at a centre of excellence any advice would be much appreciated

[Ladywonder]

Well I'm 51 have known I have had CMT since I was 17 I too trip and fall all the time have for years had a hip replacement last year need 2 knees but and hope I'm done for awhile in surgerys not sure if i want to risk not being able to walk or tripping even more . Leg pain I've always had when very severe cramps I always layed down andelevated my leg put foot on wall and stretched my calve muscles best way to help with leg cramps is to keep calve muscles stretched . After my surgery physio therapist showed me some balancing excersises wish I had know them 30 years ago as I have almost no balance now but am mobile and walking just wobble a lot lol. Good luck with everything and as you know it's just something we all live with at least you know what you have.

[Pixieboothman in reply to Ladywonder]

Hi ladywonder thank you for your reply , I have new symptoms. Now I have started getting pain in my chest and jaw , I have done one appointment for some tests going again on thursday does anybody out there have these symptoms and could be related to Cmt .

[Amanita]

Hi,Pixie,

I suspect these new symptoms are not CMT related.

So I hope the tests will either reveal something easily treatable, or that the problems will go away.

[Pixieboothman]

Thank you for your reply Amanita I hope so too , hoping for results tomorrow will post with good news I hope !

[bb123]

I was not diagnosed with CMT until I was 52 years old. The neurologist narrowed it down between CMT and CIDP. She did a lumbar puncture which came out normal which told her it was not CIDP. My understanding is that CIDP can be treated with immunotherapy. CMT cannot. I too hated gym class when I was in school. I was always the slowest runner in the class, but not clumsy. Later I enjoyed playing volleyball and tennis which I became quite good at (but sometimes would turn my ankle when trying to pivot running after a ball). The symptoms differ for all of us. I hope you are able to get answers to why they suggested immunotherapy.

[Pixieboothman in reply to bb123]

Hi , thank you for your reply bb123 , from what I remember my neurologist said about the nerve biopsie that there are some areas the are severely affected and some that are milder but normally with Cmt it is unerlateral so this is where the querie is my gene test came back positive for Cmt . My biggest problem is the pain and muscle spasms which happen all the time and render me unable to do anything they are more like seizures with the pain of cramp and are lasting longer , any time I reach or stand from sitting or lift my leg to go upstairs it's the weirdest think it locks and goes ridged right up my leg or legs if happens together . So if anybody reading this has anything similar I really would appreciate it if you could let me know kind regards pixie