Private Neurologist appointment

Phil82

I thought I would just share this with you as I find it staggering but you probably know already. 

I found out at work we have a private healtchare plan where you claim money back for physio, dentist etc also they will pay £500 for a consulation with a consultant and free MRI/CT scans.

I just rung up BMI hospital which is 5 mins walk from where I live and I can see a neurologist a week on Friday!!! ! The daft thing is both of the neurologists are the ones that work in the NHS (one of them is my mums neurologist for MS) and that I would eventually get to see anyway.

Hopefully we might have some progress now over the next couple of weeks as I see the neurologist on the 13th and my lad is at the peadatrician on the 18th.

I have also been offically refered to NHS neurology now but I only know that because I went into the drs and they printed off the letter, 7 weeks from my EMG and noone has actually contacted me.

April2018mom

That is mostly good news @Phil82! Let us know what happens next with the appointments. Regarding the no communication can you call back tomorrow to inquire what is going on? 

Phil82

I have the letter now anyway so it's not a problem and it just says the EMG was clear, the private neurologist wanted a referal letter but that would take 4 weeks for my GP to write and £40, hopefully he will be happy with the NHS referall letter and Rheumatology report.

Hopefully depending on how much he charges my health cover will cover 2 appointments so I'm thinking I might get a consultation, scans and then a follow up then go back to the NHS with a diagnosis, well that's the plan in theory.

One thing the Rheumatoligist does mention is that I show signs of Dystonia in my writting now is that just another word for writters cramp or is she saying that I have Dystonia, I possibly do as I have been told my muscles are always active and that's why they are so tight but I have no iregular postures and no twitches/spasms, I think that's why I am a bit of a mystery.

April2018mom

Good luck! 

Richard_Scope

Hi @Phil82
Private consultations can be very expensive indeed. I really hope you can get a diagnosis and some clarity very soon.

Phil82

So yesterday was quite positive but I still remain a mystery!

The neurologist thinks I might have some rare thing called Myotonia Congenita https://rarediseases.org/rare-diseases/myotonia-congenita/

He thought my muscles were to large to be Dystonia/Spastic and ruled out movement disorders straight away, but couldn't answer why my left foot pointed out. I have massive calfs and quads, and he said someone with Dystonia wouldn't have muscle Hypertrophy like me. I'm not sure but this guy specalises in movement disorders and Parkinsons so I guess he has a good idea what Dystonia looks like.

That web page does sum me up pretty well especially around how it gets better once you get moving and "warm up", although my problem is my hyperactive muscles always seem to be switched on not just after certain movements, also I seem to suffer more aorund the main nerves which this doesn't mention.

I also can't find anything out about secondary symptons most people just seem to suffer with a bit of stiffness but I have an odd walking gait, starting with arthritis, weak ankles etc which is why I was leaning more to mild Dystonia.

The big issue that is stoping him diagnosing me is that my EMG was clear and all these conditions would show on an EMG (another reason I think it's Dystonia). He's going to check my results and we might re run the test followed by muscle biopsy, genetic testing and maybe even a trip to a muscle specalist in Manchester.

One good thing about been rare is that people are keen to follow it through and find out what's wrong with you.

He will write to me in a week or two to explain what he thinks we should do next, they mystery continues!

Chloe_Alumni

Thank you for updating us! I really hope they are able to have a good plan for the future.

Phil82

Ah well my hopes have been dashed again, the neurologist has emailed me to say after reviewing the EMG he doesn't think it's Myotonia grrr

Basically I have to have the EMG test again although I am sure it won't show anything, as Richard says CP won't show on an EMG.

Intrestingly I was reading a link on here about Dyspraxia/movement disorders and that was amazing me and my son tick just about every box which convinces me it must be a movement disorder.

I'm convinced it's generalised Dystonia which has started in the left leg/ankle, in kids it offten starts in this area before spreading.

The mystery continues!

 

Chloe_Alumni

Hi @Phil82, I imagine this is very frustrating and must feel like you are going round in circles. Have you discussed the possibility of a movement disorder with your doctor?

Phil82

The neurologist ruled it out because he thinks my leg muscles are too large and was fixed on it been a muscle hypertrophy issue but then couldn't explain about my left foot pointing out more than the right.

£365 for a re run of the EMG which won't show anything but I want to get the results back quick so will have to go along wih it otherwise it will be about 9 weeks for the results if the last one is anything to go by, if you go private they write the results up the next day for you even though it will be done in a NHS hospital.

Failing everything I will tell him that my works healthcare plan will pay for a MRI scan so can he send me for one because even he thinks it's not needed it would rule a lot of things out.

Chloe_Alumni

If you believe you meet the diagnosis then it could be worth getting a test to prove or disprove generalised Dystonia. Unfortunately we are not medical proffestionals, so it would be impossible for us to say if you did have it.

I really hope you get some answers soon.

Phil82

Surprise surprise EMG 2 was all clear and the guy tried everything to get some activity showing but nothing. He said there is no way it could be myotonia although my legs are classic myotonia legs.

Back to trying to convince the neurologist it's a central nervous disorder and that he needs to send me for a scan. Surley he must agree now because I can't see what other options there are.

Can I ask a question what is the difference between Dystonia & Spastic Cerebral Palsy or is it the same thing?

Stayce

Hi @Phil82

Sorry to hear you are still in the process of reaching a diagnosis. I hope that you get there soon.

In answer to your question in its simplest sense Spasticity CP tends to relate to stiffness of muscles, whilst dystonia is related to twisting or repetitive movements. Both of which can be painful. You can have spastic cerebral palsy with dystonia (as I have)
Probably the best definition is this by the Dystonia Society 
https://www.dystonia.org.uk/dystonic-cerebral-palsy
There are other types of dystonia though too
https://www.dystonia.org.uk/pages/category/types-of-dystonia?Take=18
Hope this helps 

Best

Phil82

Thanks that's useful I don't have any twisting or sudden jerky movements so maybe it's just CP but Dystonia would explain the hereditory side more for my son.

Phil82

So I seem to have hit a dead end again saw the nerologist Saturday and because my 2nd EMG tests are all clear he says there is nothing he can do for me! He says I don't have a muscle disease and that's the end of it and maybe there just is no answer. He had completley changed his tune since the first time I saw him.

He said if I didn't believe him about not having a muscle disease I can go an see a specailist in Manchester Dr Mark Roberts head neurologist at Salford who specalises in muscle disease. The problem is I do believe him that there is no muscle disease (I have always beene 99% sure this is a central nervous problem) so I don't know if to go and see this guy or try and get the GP to refer me to someone else who specalises in movement disorders instead.

The neurologist wouldn't entertain the idea of a CND because I have no abnomolaties or spasticity, I would argue I have spastic muscles because of how tight they are and he wouldn't send me for an MRI because he said it would be "a fishing trip because we don't know what we are looking for".

My only hope now is that my sons pediatrician will continue to look into him and she might be willing to explore a few other things. She wants to discuss his delayed motor skills with me in more detail so that might lead to something. She was thinking of testing him for Charcot Marie Tooth (neuropathy) which would be weak ankles but I think in some strange way we have the reverse where our ankles roll outwards because they are to tight/stiff but in the long run we ened up with the same affects as the muscles get tighter, I am sure my ankles are getting weaker.

I am still interested to explore Dystonia a bit more especially General Dystonia & Dopa Responsive the latter seems to sum me up pretty well and how General Dystonia can start in early infancy in the foot and ankle and then spread, whatever it is my main issue is that I have stiff ankles and now my feet and ankles seem to be getting worse. Also my son he has the same problem with his ankles but at the moment everything else seems ok, maybe its started in his foot and it will eventually spread in his teenage years.

Does anyone know or have a list of consultants prefrebably in the North of England that would be worth trying to get refered to? who specalis in movement disorders.

Maybe there never will be an answer and it is just the way I am but for me the neurlogist was very quick to dismiss other symptons like talking with a slight lisp, weak core muscles, weak upper body he was just to focused on the legs hypertrophy and wasn't willing to look at anything else.  

Any advice gratefully received because I feel like I am hitting head against a brick wall now. 

chiarieds

Hi @Phil82 I don't know if you've tried the Dystonia Society.....they have support groups in Northern England; link below. Perhaps getting in touch with the appropriate contact person in your area might help. I would think they may be aware of consultants specialising in movement disorders.

https://www.dystonia.org.uk/Pages/Category/groups?Take=6 & click on 'Northern England Groups' for more info.

Phil82

Thanks will take a look.

I have just had a very good conversation with someone at the Winsford Neuromuscular center and as soon as I mentioned a neurologist in Salford they said that will be Mike Roberts and if you get the chance you have to go and see him, yes he may specalise in muscle disease but he covers everything and we get a lot of our refferals from him and all our patients coment on how good he is.

chiarieds

@Phil82 - That's good. Is it perhaps this Dr. Mark Roberts?: https://www.musculardystrophyuk.org/support-hub/near-you/services/salford-royal-nhs-foundation-trust/ if you click on 'The team' He certain seems to be well versed in neuromuscular disorders.

pollyanna1052

Yes,,,,,, my story has many similarities to your`s! And I am seeing someone new next month, after 20 years of is it this? is it that? And then being discharged with no diagnosis!

Here`s how it al went...long story...but I believe you and I should compare notes now and in the future!

I`m 67 now...a full time wheelchair user, need hoisting for every transfer, have no bowel or bladder control and have spastic muscles in my legs.

At 45 I began tripping up, falling,,,had some spectacular ones too! I saw GP who told me there was a 10 month wait to see a neuro! Gadzooks! So I paid £175 and saw one within a week! Then I transferred to NHS and saw the same neuro!

Primary Progressive MS was suspected. I had 4 MRIs, 2 EMGs , a VEP and oodles of blood tests, over some years and nothing ever showed anything of interest.

PPMS was 95% diagnosed. In 2011 MS was discounted and HSP was diagnosed...hereditary spastic paraparesis. This was decided by physical examination. Some years on, a genetic test came back negative, so HSP was discounted.

I`d had my life turned upside down and inside out enough! Like you no doubt!

So now I have been referred to The Walton in Liverpool to a movement disorder clinic. I expect no miracles, but it would be nice to get a firm diagnosis. I have a new symptom.....left hand feels as if I have a glove on and movement can be erratic.

My very best wishes to you and your son. xx

Phil82

Yes that's the man and I can get an appointment in 2 -3 weeks so it's worth a try.

@pollyanna1052a referal to the Walton was going to be next try before this guy at Salford was mentioned, I hope they can help you.

My mum has PPMS although I don't hink that's my issue as she doesn't have muscle tightness issues despite having dropfoot.

At least they sey send you for MRI's. I was told 12 months ago by an osteopath I need a CT scan of my head and neck but noone will send me for one, so frustrating.

chiarieds

That's great news; I hope you get some answers, & will let us all know how your appointment goes.