Private Neurologist appointment

Phil82

So I rang the lovely people at the Dystonia Society as I wanted to check out my symptons before I walked into the neurologists and declared I think I have Dystonia and he thought I had gone mad like the first neurologist did.

I'm pretty sure now what what I have is a mild case of Generalised Dystonia/Dopa Responsive Dystonia it's just getting someone to listen and investigate it.

Do any of you have Generalised Dystonia? I would be intrested to know how it affects you.

Chloe_Alumni

Sorry to hear this @Phil82, I imagine it's very frustrating to keep being turned away. Do you have any appointments lined up?

Richard_Scope

The person at the Dystonia Society was of no help at all? I don't have Dystonia myself but I work closely with a family that is very familiar with that impairment, so I have some limited second-hand experience.

April2018mom

Phil82 said:

So I rang the lovely people at the Dystonia Society as I wanted to check out my symptons before I walked into the neurologists and declared I think I have Dystonia and he thought I had gone mad like the first neurologist did.

I'm pretty sure now what what I have is a mild case of Generalised Dystonia/Dopa Responsive Dystonia it's just getting someone to listen and investigate it.

Do any of you have Generalised Dystonia? I would be intrested to know how it affects you.

Phil82 said:

So I rang the lovely people at the Dystonia Society as I wanted to check out my symptons before I walked into the neurologists and declared I think I have Dystonia and he thought I had gone mad like the first neurologist did.

I'm pretty sure now what what I have is a mild case of Generalised Dystonia/Dopa Responsive Dystonia it's just getting someone to listen and investigate it.

Do any of you have Generalised Dystonia? I would be intrested to know how it affects you.

No experience but good luck! 

Phil82

The Dystonia person was very helpful and said it could be that my muscles are in constant spasm and some of my syptons did sound like Dystonia. Also if I don't get any further with the msucle specalist then to ask for a referal to a movement disorder specalist at the Walton Centre.

The issue now is that the neurolgist thinks because my legs muscles are so large that has top be a disease and not a central nervous system but there must be other people out there walking around with large muscles especially if there issue is with their legs/stiff ankles.

The symtons which seems to tick all the boxes are:-

Started in Infancy probably in one foot or leg (my left ankle) and has then spread, it got worse when I was tennager, my left foot turns out however when you walk you can't tell, the burning I used to get in my back, neck and shoulders sounds like the pain people with neck dystonia get, My foot roll outwards when I walk which is the common sign of Dopa Responsive, my neck sticks forward slightly and I have rounded shoulders, I have a subtle lisp, my eyes always feel heavy and sometimes twitch and my hands are always tight and I have Dystonia/writer cramp in them according to Rheumatology.

chiarieds

Hi @Phil82 Have you managed to get an appointment to see Dr Mark Roberts at Salford? You mentioned this previously.

Phil82

Yes I see him in two weeks, but was just wanting to check if my suspicions were on the right track before I suggested something to him that was completley wrong.

I'm also hoping to get my physio who specalises in neurophysio to write me a report of all my weird muscle issues so at least there is something there to back up my claims. I think the last neuroligist was to quick to overlook a lot of things so to have something in writting from another health professional might help especially because there is very little on my NHS records.

chiarieds

Hi Phil, very pleased you have got this appointment & that your physio sounds helpful too.

I have a completely different disorder that's genetic. I had to look into this, &, when I found out what I strongly believed it to be, then find the right specialist. I do hope the one you're seeing is your 'right' one! I'm also a physio ('tho I worked as such a very long time ago) & have always been interested in neurology, which came in helpful when I was trying to find out more about our family's problems.

Please remember to let us all know how you get on.....I do hope you get some answers.

Chloe_Alumni

Hi @Phil82, we all hope your appointment goes well in two weeks.

Phil82

Update

So today we saw Dr Roberts who has decided I should be sent to the School of Neurology in London!!!

Somehow without even having any notes and not examining me and just going from what I told him he said although Myotonia doesn't show on the EMG there are some very rare diseaes that are similar which might not show and the only people that could do the genetic test for these diseases are the people in London.

Like the last neurologist he said I can't have dystonia because I don't have any twisted limbs, I'm not convinced I am fairly sure that I have Dopa Responsive Dystonia which is a mild type, with stiff walking gait and you can have no obvious abnormalities.

I explained I don't think I inherited this and I have aquired something along the way but he said well maybe the gene was just never dominant.

So probably 6 months until I go to London and I am convinced they will say they can't find anything.

He is putting me on gabapentine to help with my foot pain is anyone else on this and does it hep? will it also act as a relxant I think I need a relaxant more than a painkiller.

chiarieds

Hi again @Phil82 - I had hoped, as I'm sure you did, that meeting Dr. Roberts may have helped you more.

As far as genetics go, I believe you've mentioned previously that your son also has issues. From what I understand, some genes can show 'variable expression' even in the same family. That certainly is the case in my family, where I've passed the genes on to my children, & 3 grandchildren, & we're all a little different, but with some similarities.....if that makes sense!

Did you mention your son? Just thinking it might be worthwhile getting you both tested, which I would hope would show, one way or the other, if you have a genetic disorder or not.

Some people find either Gabapentin, or Pregabalin (which are in the same 'family' of drug) helpful. Both are anti-epileptics, but help with neuropathic pain in lower doses. I've tried both, & am still taking the latter.....we're all different.

Phil82

Hi 

Yes they know about my son and thats why they think its a hereditory muscle disease. However where I disagree is that I dont think I inherited it Im sure I aquired something from a virus and it has niw becone hereditory.

I would feel happier if I was confident they had looked at all the symptoms and could tell me why this was a movement disorder not just looking at the leg muscles like they have. 

On the medication i could really do with something to stop spasms/cramping as well as get rid of the pain will gabapentine do both?

chiarieds

Hi - Pregabalin helps both my neuropathic pain & spasticity. Gabapentin should do the same. With either, you may need to build up gradually, to the level that helps most. As I've mentioned, some find they're better off with one or the other, but they're very similar meds. You just have to try one first to see which might better help. The only nuisance is that as you have to build up the dose gradually, you need to also taper off gradually, if the first one you try isn't helpful. Just don't stop taking suddenly whatever you do, & discuss whether it's helping or not with your GP.

Phil82

Cheers will do, can GPs perscribe such medications on their own or can it only be done on the advice of a consultant. 

Just thinking if it doesnt work or i need something else but am not seeing a consultant now for at least 6months what do you do. 

chiarieds

Hi, that's why I mentioned GP; sorry that wasn't said clearly. My GP tried me on Gabapentin, then changed it to Pregabalin, as described above.

Hopefully Gabapentin will work for you; just letting you know Pregabalin is an alternative if your GP doesn't mention it. So, yes, your GP can prescribe either.

Your consultant will write to your GP suggesting Gabapentin, which your GP will then prescribe, I believe. The only personal experience of this I have was one consultant recommending a medication for a problem I'd raised (which one GP had thought unnecessary), which the GP I normally see has since prescribed.

Chloe_Alumni

Thanks for the update @Phil82! I'm so glad it was a positive appointment, I imagine it was great to feel heard and listened to. I hope you don't have to wait long for the next appointment!

Phil82

For those of you still following my saga here is an update which is so staggering it's hard to believe.

Since the last neurologist appt I still haven't seen my GP so no sign of the gabapentin I believe there is a letter from the consultant but there is no mention of medication. Over the past few weeks I have been feeling worse both physicaly and mentaly like my legs are swelling up every night, when I wake up in the morning my legs are so stiff I can't move them and then I start feeling anxious, stressed etc

So I have been pretty sure for sometime now that I might have this rare thing called dopa responsive dystonia what makes it rare is that it often gets misdiagnosed as CP or junior parkinsons and people never get the correct diagnosis. I've been doing a lot of research into it and I found out that DRD is caused by a lack of dopamine which is a neurotransmitter which is incharge of your motor actions/movement and it also affects your general mood. I looked up the symptoms and I had a classic case of low dopamine levels.

I thought well lets see if you can eat high dopamine foods which you can and is there any vitamins and indeed there is a magic thing called Dopa Mucana readily available on amazon and other websites and sold as a dietry suppliment. Lots of people buy it just to use as a suppliment to improve their general mood like a happy pill.

It turns out Dopa Mucana contains an element of L-Dopa the drug used in parkinsons medication and the way they test you for DRD is by giving you a course of L-Dopa and if all your symptoms magically go away you have DRD and can be fully curred.

Well within 20 mins of my first tablet its like someone flicked a switch and all the stiffness and tension in my legs just dissapeared it was amazing. The next morning I woke up no stiffness or aching I jumped straight out of bed no issues. The past week my energy levels have been up, my mood better, my apetite under control more as I'm normally always hungry.

The best bit is my range of movement/flexibility is getting better by the day. I went to see my neurophysio and she couldn't believe the change in me she said my walking was the best it has ever been, my hips looser and my hamstrings have got longer where as they have always been locked solid.

I have even started running again!

I've not taken any for 2 days now because you have to be careful that your body doesn't become immune to it so we will have to see how long the effects last.

I see the GP on Monday I have no idea what she will make off it, prob tell me off for taking it because I have since found it is stronger than what people think and it is more than just a dietry suppliment but in the absence of anyone coming up with any better suggestions I can't see that I have anyother option . I must have done enough now to prove that I warrant a second opinion by a movement disorder specalist prefrebly in Dystonia at the Walton Centre. 

There's a lot more science to it as well but I won't bore you with those details!

Sadly my feet still hurt when I walk the dog but hey you can't have everything.

Chloe_Alumni

Hi @Phil82 and thank you for taking the time to update us. I'm so happy to hear that your symptoms have improved. I hope the GP appointment goes well.

Just a disclaimer to others, please only take medication that has been prescribed by a doctors or GP. Similarly, follow the instructions for vitamins closely, it is also recommended that you ask your GP before taking supplements as it could interfere with other medication.

Phil82

Yes good point Chloe I have done further research into Dopa Mucana and it's seems the ones you buy off Amazon are a very high dose so you have to be careful (I have ordered a lower dose). I went to the GP today who admitted everything I was telling her was way above her head showed her the tablets but she didn't say anything about them.

She said I seem to know far more than she does and to just carry on what I'm doing and if I want a referal letter to a movement disorder consultant if I find the consultant she will write we the letter.

I don't know if she thought I was mad or a genius but congraturlated me on my findings! and there was me thinking they would just tell me off for looking things up myself.  

 

Phil82

Hi Guys

I thought I would give you a quick update as with a bit of luck I might be on the mend.

My offical medication of Simenet (which is a parkinsons medication which is a bit worrying in itself) arrived today and it's basically exactly the same as what I have been taking anyway. It's taken a month to get it (I wont bore you with the details of how useless my GP surgery is) but finally we might make some progress.

I have been taking a lower dose of the suppliment I bought on line and have just been taking one ever 2/3 days it seems to have kept me ticking over Christmas and kept the stifness at bay but hasn't had the radical effects that the original stuff had. All was going well I was even back to walking the dog 2-3 miles until last week I decided I would go cold Turkey and see how long I could go without any tablets before the symptoms came back and also I probably needed to get it out of my system before taking the new med. All went well for 4 days then all of a sudden my feet flaired up for a couple of days and now the fatigue and general groggy feeling has returned the past couple of days. The medication hasn't had much of an effect so far today but I think it's going to take a few days to build my dopamine levels back up after going cold Turkey.

However nothing is straight forward, I am on a 30 days trial but noone has told me what happens on day 31! Do I just go cold Turkey again and start getting withdrawal sypmtoms/side effects. I'm hoping my Dr can order me a repeat presecrption but I can't see a Dr for 6 weeks!!! by which time it will be to late. I rang the neurolgist who perscribed them but he said he doens't want to see me again and after the trial to go back to my original neuro. It turns out he's retired and I am on a 26 week waiting list!!!

Seriously you couldn't make it up.

I'm desperatley trying to find a new private neuro I can go to in 4 weeks when my tablets run out, luckily I have my amazon tablets to fall back on incase there are more delays. Imagine been left for 6 months to see someone after you had a finsihed a trial that had worked, it must happen to people and my heart really goes out to them.

So there we go I have decided I am just odd it's like I have a mix of CP & Parkinson  (maybe I am greedy and not just happy with one of them) where as I thought I had more CP symptoms with the fixed muscles I'm now starting to think there are more parkinons symptoms the muscle rigidty, stomach cramps, fatigue all caused by low dopamine levels. Also the Neuro's still aren't convinced I'm correct becaus they can't expalin my large leg muscles but I think there are other reasons for that.

I was quite happy when I thought I just had mild CP knowing CP doesn't get worse apart from wear and tear, now I'm not sure what to expect as I get older will my dopamine levels fall further and I end up with full on Parkinsons. The neurologist says I deffinetley don't have Parkinsons but he also told me I don't have any central nervous system issues, CP or Dystonia so I don't really believe a word he says.

I'm seriously thinking about writting a blog to raise awreness of all the conditions I have looked into to provide advice/comfort for others who just seem to have every door shut on them, if I do I will be sure to give you guys a mention.

If I get fixed the next problem is getting my son sorted, he's starting to struggle with his feet and I think he might have ADHD well more ADD, and the more I think about it I prob do as well.

Oh well at least life is never dull anymore!!!

One thing I have learnt though is never give up looking for answers and keep bangining on those doors even when people keep shutting them on you.