UPDATE - MY REPLY TO MEMAMBE

[LoolooLacey2]

Hi, I am waiting on referral and tests (I am 66 years old). I am just like you I am sore to touch all over. I have had many falls due to foot drop and if I do fall it is excrutiating if anyone tries to help me up, I have to crawl to a bit of furniture to get up. I also have Raynauds & Sjogrens Sydromes. I was diagnosed with a metabolic myopathy (VLCAD) in 2001 which is a genetic disease from both parents, this also gives severe muscle pain, toxic symptoms on exercise etc etc (a long story), it is so rare I am only one of 2 people and the oldest person in Scotland to have this. Long story short I have ALL the classic symptoms of CMT - champagne glass deformity of both ankles (stork legs - pretty pronounced), inverted heels, hammer toes (my toes are tiny but point down to the ground all the time), pain in feet, toes ankes and bottom of legs with cramping on the outside of lower legs & foot drop both sides. I have many many trips and falls, but luckily still here to tell the tale. Now my hands and forearms are affected with reduced grip. I am very very clumsy and have to be aware of my surroundings and walking surfaces at all times. I am pretty sure it is NOT Fibromyalgia you have from your posts. I have a new Consultant (Adult Metabolic Diseases for my VLCAD) so I see her this week, she has a Neurology Doc with her and I have asked for referral and tests for CMT. I do not come on here often but will if I get a firm diagnosis. I get DLA and have done for 18 years since diagnosis of the VLCAD, but now I am fighting the PIP people, who have decided in their wisdom to take away my mobility section of awards - pathetic, my disease is getting worse not better. I am appealing so will let peeps know the outcome of that. Keep going and do not let your physical illnesses get you down, I know it is very hard and I have down days, but I fight like hell to be as normal as I can be. All the best to you and your family.

[Memabe]

Thank you yes I have many other doses as well so I know it can be complicated but like you said it is getting worse and this is the one thing everyone is stumped on so I will continue to go find out till all my goings gone.

[missspain]

hi there sounds like c.m.t.your tripping over could be helped .you could try foot ups,or many other appliances that help with foot drop.they really do help,but you must ask.wishing you all the best.

[LoolooLacey2 in reply to missspain]

Thank you, I will be getting some help and advice once I get all my hospital appointments in place. Luckily there is a Physio Dept very close to where I live, but I may have to go to the Orthotists at the Hospital here my Clinic visits will be. Thanks for your advice it is much appreciated.

[Memabe in reply to missspain]

I do have AFOs and also did try the foot ups less bulky than the AFOs sorry didnt reply sooner dont get on much still figuring things out from the loss of my husband in August. But slowly coming around to reality.

[LoolooLacey2 in reply to Memabe]

So sorry for your loss. My appointment is now in the pipeline, but waited 4 months for a referral from my Myopathy Consultant to my GP and now they have referred me to Neurology. I should get word in the New Year and my appointment will luckily be in my home Town, which will makes things easier for me. I have also had word from the Pain Clinic with a questionnaire to complete so that is off to one of the larger Hospitals in the area, not sure how long I will wait to hear from them. This has been a bad year as my Myopathy Cons seems to think I was diagnosed wrongly in 2000/2001 and wants more investigations. She says I do have a Myopathy with a possible Neuropathy so a double whammy. I have to see the Neurologist first and get my pain under control. My son already goes to the Neurology OP as he has a neuropathy caused by Vit B 12 deficiency, but there a abnormal bloods so not sure what they are thinking in his case he is 44 years old. All I can do is plod along literally and see how it pans out. I am having a lot of cramps and like a tightening of the sides of my legs just above my ankles in both legs, worse when I wake up. Now having calf cramps on just stretching in bed. Also, cannot squeeze the toothpaste or the laundry gel bottle, this is very recent. I had a steroid injection in my left thumb a month ago and it has helped the pain in my thumb, but not totally. My toes feel odd like dead (not completely numb), toes are curly pointing downwards, walk outwards on the outside of my feet and my instep is high. Hardly any flesh on my lower legs, ankles or feet and all the veins stick out. Blotchy skin - purple and blue just horrible, have had that since my 30s. I should stop now as off to bed, will come back another day. Thanks for answering my posts it is appreciated. X

[CMT1111]

It sounds like you have severe early onset cmt hereditary neuropathy 5x. Ask for a Gene test

[Memabe in reply to CMT1111]

Cmt 1111 is your reply to my post or Looloolacys?

[LoolooLacey2 in reply to CMT1111]

Hi your replied to my post with this answer - CMT 1111 - It sounds like you have severe early onset cmt hereditary neuropathy 5x. Ask for a Gene test. Was this answer to me or someone else?

[LoolooLacey2]

Hi Cmt 1111 can you confirm your reply a day ago was to myself please or like Memabe says is it to her/him? I have had trouble from very young - not being able to swallow hard food or chew hard food, always general clumsiness all my life and lots of falls since the age of 30 years old. This year has been very very bad and things seem to have gone mad. Will write more later on as busy today. Thanks.

[Coffeeman]

Hi LoolooLacey2,

I'm close to your age. I find CMT is wearing me out. I haven't found a Dr. That really helps. Please let me know if you find something that helps.

[LoolooLacey2 in reply to Coffeeman]

Hi Coffeeman, I still await an appointment, but now I know it is in the pipeline. I have been writing down my problems so that when I do see the Neurologist I will have all this with me. I am getting cramp in the strangest of places to. Always got it in my thighs and had this for years and in my stomach/ribs/diaphragm area, always on the left, but now it is happening on the right side. I also seem to have tightening of the outsides of my legs near my ankles and today I had a mega cramp on the right just about my ankle. I find having foot drop does not help as I cannot use my feet to prevent or help the cramps. I do drink plenty fluids and sit with my feet up in a recliner every night so that does help. I am getting odd things with my toes they feel dead, not necessarily numb, just not right. Once I get my appointment I will come back on here and let folks know how it goes. Happy to chat if you need to. All the best.

[Amanita]

Hi, Looloo Lacey,

Well It's something you are a last on the waiting list for a neurologist appointment. I seem to remember it taking 3 months a few years ago, so very much hope it isn't much longer. And of course I hope you will be seen by someone reasonably sympathetic and understanding.

It is indeed a very good idea to write down briefly your questions and concerns before the appointment (well you will have plenty of time, unfortunately). It is great for ensuring you remember to raise all the points that are important to you. Nowadays I write/print out two copies and hand one to the consultant. It then can act as an informal agenda, as well as showing the consultant that you have been thinking how to make the best use of their time. I may even tick the things we have discussed, and jot down any new information in order to remember it afterwards.

Let us know when you have a date, so we can think of you.

Best of luck with your battle with the PIP lot. Have you approached the Citizens' Advice Bureau? They can be very helpful. They certainly helped me with my (successful) blue badge application. I haven't been involved with DLA/PIP myself as hadn't heard of it and was sort-of just-about coping until after my 66th birthday, so was then ineligible to apply.

[LoolooLacey2 in reply to Amanita]

Thank you for your kind words. My son is attending the same Neurologist as he has a neuropathy caused by Vit b 12 deficiency and he took a list of my symptoms with him when he saw her at the end of November. She said he did not have CMT, but would be very interested in seeing me and would look our for my Referral. It is a good idea about 2 copies of my symptoms and questions then it will save a bit of time at the appointment, helpful as my memory is not so good. I always find I come home and then remember something I should have said or mentioned. I have friends (who were work colleagues prior to me retiring) in the NHS so I will ask them to check the system for my Referral, apparently there is a Tracking System now they can look at. Handy to have these people who can help even if it is just with information. Will keep you posted on when my appointment is. Thanks again for answering me it is much appreciated.

[Amanita]

Well that sounds like a very good start, and the neurologist will know a bit about you already - and is interested in seeing you, too. And as your son goes to her she will not seem like a total stranger .

Also it is good you have friends in the NHS to keep a bit of an eye on things. As a complete outsider I found the NHS a pretty daunting edifice. Gradually I discovered from experience (e.g. forgetting to ask an important question) how to cope with it a bit better. I also discovered that Consultants have Secretaries, and sometimes these secretaries can be approachable and helpful.