Neurologist appointment

[Watk123]

So I’ve finally had my neurologist appointment after months of waiting 😏.

Has anyone been to an neurologist? What happens?

[Amanita]

Hi, Watk,

I'm glad you have an appointment at last.

Some things that are likely to happen are -

The neurologist will observe how you walk when you come in.

He/she will ask what your symptoms are, how long you have had them and whether other members of your family have the same problems.

He/she will give you a neurological examination, probably including Getting you to touch your nose and then their finger, Looking at your eyes, Testing your balance by seeing if you can stand steadily with eyes open , then shut, and whether you can walk heel-to-toe, Testing the strength of your arms legs, wrists, ankles, hands , feet, Testing whether you can feel a pinprick (not actually damaging your skin - don't worry), Testing whether you can feel hot/cold, Testing your reflexes.

If he/she thinks you may have CMT - as seems very likely from what you have written in your other posts, they may take a blood sample to send away for a genetic test (an expensive procedure in a special lab, to determine if possible which gene is faulty and thereby which type of CMT it is) Blood test results usually take a number of weeks or months (9 months in my case) to come through.

He/she may refer you for nerve conductivity tests to determine whether your nerve signals are slowed down or if they are reduced in power, again pointing to general groups of CMT types.

He/she may refer you to a physiotherapist who will give you suitable exercises, an occupational therapist for simple aids and maybe hand exercises and/or an orthotist who may provide you with something to help you with walking - from a simple device to help you lift your toes, to splints (AFOs) and special boots.

With CMT as there isn't a cure yet, the best thing is to help with the symptoms.

Before your appointment it would be a very useful thing for you to write a list of brief notes - firstly about when your symptoms started and how they developed - and secondly a list of questions you want to ask. Personally I print out 2 copies of these notes and hand one to the consultant. They have a useful record and you will not forget to ask all your questions.

I hope this helps a bit. Very best of luck! - and please let us know how you get on.

[Hidden in reply to Amanita]

you missed out the bit where they always turn up 2 hours late!

[bsbowman in reply to Hidden]

Not fair. My neurologist was right on time and extremely thorough. He was the best doctor I've ever encountered. Wish all could be as good as he is.

[gunner in reply to Amanita]

Hi is been a few years since I seem a neurologist who I saw twice, wasn't helpful at all as the 1st time he just clarified what I had and it entailed as I was thinking I had my which obviously it's totally different. So just told me that I do not have my, the 2nd time he just said what do u expect me to do about it as I can't give you a pill to make you better. But did agree that I should not be forced to work. He told me that he had a women and her son who comes to see him the son having downs syndrome and said what does she expect me to do I can't make him better either. Since then I've asked to see another one asking my go to refer me but was told that it doesn't work that way now! So quite surprised you even got a appointment tbh. After my uc assessment the decision came back saying I do not have any limited capability for work which is crazy as I really struggle with just getting out or going to the local shop n back. And many other things, so not only do I have to contest the loss of my esa I now also have to ask for a reconsideration on my uc. But fight I will as u truly know that I can not hold down a job. But anyway I hope the neurologist you see is more useful and helpful good luck.

[seasider18]

The CMT specialist I saw tried to sell me a walking frame that he had designed.

[Amanita]

Hi again folks,

I can see that I have been pretty lucky.

My original neurologist was rarely more than half an hour late, was very thorough, and though he knew little about CMT made it his business to find out as much as he could. Unfortunately he went away to join a specialist neurology team in Glasgow. My current neurologist is seldom much more than 45 mins late, and I see her once a year, but like her predecessor she says she is contactable in between times if necessary. That feels reassuring.

Second opinions - again I have been fortunate, seeing a consultant about my voice problem and being fobbed off with a diagnosis and DIY treatment which after 2 years proved wrong and useless respectively. My GP got me an appointment with a second, much more approachable consultant. Although her diagnosis was inconclusive(maybe some input from the CMT) and she had no treatment to offer, at least I felt she had listened to what I was saying. Have you tried asking your GP for an appointment with a different neurologist, Gunner?

Seasider -Is your neurologist based in the US? I'd be surprised if that were to happen in our NHS....

[REGreen]

Dear Watk123,

I am sorry that your eperience has been so bad, but do try to get your GP to refer you to a diferent neurologist as they are not all like that. I have seen two who are both charming, punctual and caring. The only reason to change from the first was that the hospital was setting up a specialist one stop shop for CMT patients to cover Scotland. In a well run system the neurologist should be the consultant with overall responsibility for your care and refer you to surgeons, orthotists, physio and occupational therapists as necessary. There may be a slight sense of embarassment when the consultant has to tell you that your diagnosis means there is no cure, but your experience suggests a consultant rather lacking in empathy (or ground down by overwork and unrealsistic expectation). He/she may have used the analogy of Down's syndrome to clumsily try to illustrate that you were born with the mutation and have it for life.

If you have a definite diagnosis of CMT and have a family history of the problem, it is wrth trying to get a referal to a specialist CMT clinic. Ther is the one in Glasgow, which I attend and one at UCHL, which my sister attends, and I believe there is one in Newcastle.

As Amanita has assured you, they are not all over worked and disillusioned. The one found wanting might be the person to refer you to a specialist unit. Try ringing the secretary and asking if it can be arranged. The services are there, but my family have found that you need to be proactive in finding them.

Godd luck with your search,

RE Green

[LoolooLacey2 in reply to REGreen]

Hi, REGreen, I have just read your post and am interested in where in Glasgow this CMT Unit is operating. I live on the East Coast of Scotland. I have all the classic advances symptoms of CMT and am now awaiting referral to a Neurologist, Human Genetics Dept, Dermatology for a skin biopsy for a myopathy I was diagnosed with in 2001/2 and the Pain Clinic. I am 66 years old. My symptoms have gotten worse over the last 2 years. My new Consultant (my old one was my Boss and he Retired a few years ago - also told me here was no cure for my myopathy and not to bother attending regularly as it was a waste of time as the Hospital I worked in did not recognise the need for an Adult Metabolic Disease Clinic) - sorry I digress - has now told me she will investigate in full by referring me to all of the above. There was a Neurologist at my first appointment in June past and she was very interested in my symptoms thinking neuropathy not myopathy. However, my Consultant thinks they are connected. I would like to be able to tell them at my appointments about this Glasgow Centre and would be grateful for some info if not too much to ask, thanks?

[REGreen in reply to LoolooLacey2]

Dear LoolooLacey2

The CMT one stop shop is at Queen Elizabeth 11 University Hospital in Glasgow. I was previously under the care of neurology consultant,,Dr. Farugia, but her colleague has recently started up a clinic for CMT patients only for Scotland. She is Dr. Katy Brennan. Eventually she aims to have all the ancillary care branches available, so people don't have to trek to Glasgow for a number of follow up appointments (which can never be arranged on the same day). Just at the moment she is on maternity leave so my appointment has been put back from August to January. It is good to have a consultant who specialises in CMT, but how well the whole concept will work I don't now yet. Dr. Brennan is working with Prof. Mary Reilly at UCHL, where my sister is a patient, and she seems to be aiming for as good a centre as the gold standard one at UCHL. My sister was amazed at the care and detail covered there after languishing in various clinics in Norfolk and really feels she is getting somewhere. We have a type 2 CMT which hasn't yet been identified and we are concerned to get it nailed for the sake of future generations. Do ask for a referral to Dr. Brennan but I am afraid you will have to wait a while.

It's not much fun getting more pain and disability and not being able to do much about it, so good luck,

REGreen

[LoolooLacey2 in reply to REGreen]

Thank you so much for the information about the Glasgow Centre. I am getting an appointment in Ninewells Dundee initially, but will keep the info you have given me in mind. I will be writing down a wee list of things I want to say when I go there and will defo mention CMT to them, albeit my Consultant (Myopathy one) will have said it all in her referral. She herself was not sure if any of the Dundee Consultants specialised in CMT. Will get back on here once I have my appointments. Thanks again.

[Alice-Ann]

Dear Watk123; Amanita's explanation is straight to the point and correct. She's also correct about him taking blood and having the nerve conductivity test by another doctor.

I have seen 4 neurologists and 2 electricity conductivity doctors and or techs. Please don't think that I'm being negative, but each and every one of them plus 4 internists have all said, "yes, you have CMT, but all I can do is give you drugs to make you more comfortable, so come back in a year, if you want"! Every doctor says they know almost nothing about M.D. , if they are being truthful.

Most doctors only know a little about M.S.- This is where most of the money has gone recently for research. The best place that I know is exactly where you are now. These people with M.D. and CMT in particular have helped me more in the past 6 months than any doctor!!! These people have experienced already what you will be going through. Everyone is different. No one goes through the same thing in the same order or as bad as some do. I have checked different Clinics in Panama, but they only treat Parkinsons and ALS.

I have found that there is no subject that all of us won't answer for you in relation to ourselves. I am 80 years old and have found that once you are diagnosed, you have to decide how you are going to approach your illness and life. I have decided that even though this has slowed me down, I am determined to have a damned good attitude at all times. So what if I need a WALKER or SCOOTER or WHEELCHAIR. I refuse to give up my busy life to the CMT. My friends admire this and never feel sorry for me, as I won't have it. Everyone has problems. . . ours just seems to show a little more. One step at a time is the trick, plus don't be afraid to ask people to help you when you need them.

I wish you every kind of strength, happiness and resolve for your life. Stay busy and never feel sorry for yourself. Hang in there and help others when and where you can!! God bless you in this new challenge in your life.

Alice-Ann

[beachwine]

After several specialists in my city my primary care doctor sent me to the University of Florida. Not only was my neurologist top notch, caring but also teaches at the university. U of F has been named a CMT Center of Excellance because of her. She has published articles & spoken around the country on CMT. It was my luck of the draw when my 1st appointment just happened to be with her. She knew immediately I had CMT but did the nerve conduction & EMG test. I was given a test kit to send a saliva sample to a genetics lab. She ordered that I be fitted for AFOs and schedule 2 physical therapy appointments per week to try to regain muscle mass in my legs and core strength in my body. I had seen a pulmonologist and had a sleep study finding I had serious sleep apnea. I now sleep with a CPAP machine. Just last week I week I went back to her for a 2nd appointment (3 months). She gave me a copy of the findings from the genetics lab & sadly I have a rare form that not a lot is written on. She asked if I would register with the Muscular Dystrophy Association because they work closely with CMT America in research. I agreed. She also said the University would pay to have my sister tested and her children. (I have no children) She took pictures of my feet and had me perform a respiratory function test because I do have some shortness of breath and as you know CMT affects the phrentic nerve going to the diaphragm. Later in the day I met with both occupational therapists & physical therapists putting me through a series of function test. I couldn't ask for better care and all appointments were on time!

[cmt_exercise]

Very little if in the UK. If you haven't had a nerve velocity test, that'll be done, which is actually extremely useful as it can indicate the severity of CMT you have.

Other than that, they're over-paid pencil pushers who do basic poking and prodding to determine strength and flexibility; nothing more than what a basic nurse could do. If you want useful advice, then look elsewhere as I'm discovering a lot of neurologists are literally decades out of date with their knowledge of CMT, as well as being brutally unaware of other symptoms that may be a result of it e.g. sleep apnoea and muscle deconditioning.