Still undiagnosed


#1

Hello all

This is the first time I’ve ever posted anything on a forum although I’ve been here plenty of times and read posts by others, mainly looking to see whether anyone else’s situation is similar to my own as I sometimes feel so frustrated with it all.

My problems first began in late 2012 when my lower left leg and foot started to go numb when I was out running and around the same time I also started to have pains in my back and neck and felt a bit ‘trembly’. After a few weeks my symptoms gradually improved and I found that I was able to run for a longer period without experiencing numbness in my leg and foot. However, during the following months I began to have episodes where I would feel weak and faint which were often accompanied by other symptoms such as tingling lips, trembling and palpitations – sounds just like a panic attack I know, but I had previously experienced panic attacks and this just didn’t feel quite the same. I also began to have a constant feeling of slight numbness and tingling all down my left side in addition to which the muscles in my back and neck started to feel really stiff which eventually resulted in me making an appointment to see a GP - I had not been to the doctors for around 5 years and was a bit ‘phobic’ about doctors and hospitals etc so it seemed quite a big deal at the time! I then had various blood tests etc which did not reveal anything but my blood pressure was found to be on the low side which could have explained the feeling faint etc.

In early August 2013 I then started to have constant cramp in my left calf along with pins and needles, in addition to which my left arm started to feel a bit weak and tingly and I had pins and needles in my fingers. By the middle of the month I had started to have problems with my left leg when walking as I felt like I couldn’t control my left foot and would often feel slightly dizzy and off-balance. My left hand had also started to feel really stiff and awkward when trying to do things such as writing, holding cutlery, doing up buttons etc. I also started to have almost constant back pain along with a shaky feeling inside which made it hard to stand for any length of time.

In light of my continuing difficulties, my GP then referred me to a neuro and I had my first appointment in October 2013. The neuro who I saw arranged for me to have an MRI scan of my head and neck and I subsequently received a letter informing me that my MRI scan was ‘normal’ which excluded multiple sclerosis as a diagnosis and I later discovered that my follow-up appointment had been cancelled.

As there was no improvement in my symptoms, I then saw another neuro who recommended that I should have a further MRI scan of my head and neck using contrast. The neuro who I had originally seen arranged for me to have the further scan as well as a lumbar puncture, none of which revealed anything that might be causing my symptoms and he sent a letter to my GP which basically stated that that there did not appear to be any organic explanation for my symptoms.

By this stage, my condition had deteriorated somewhat in that a lot of my symptoms had now spread to my right side although they didn’t seem quite as bad as on my left side, in addition to which I had developed a few new symptoms. At this stage my GP felt that it would be best if I saw somebody new and she therefore referred me to another neuro who I first saw in May 2014.

I then had some further blood tests, an MRI scan of my spine and some EMG tests, all of which came back ‘normal’. Following a further examination, the neuro then decided to give me a trial of Madopar and started me on a dose of 50mg 3 x a day (this was in July 2014).

I’ve never been keen on taking medication and, having read the accompanying information leaflet, I was not really happy about taking it...if you could have seen me taking my first dose it was like somebody undertaking a ‘Bushtucker Trial’ on I’m a Celebrity. Having not suffered any really adverse effects, I continued to take the meds and, within a few days, there was definitely some improvement in my overall mobility and I didn’t feel nearly as stiff. My GP then increased my dose of Madopar to 100mg 3 x a day and I went back to see the neuro a few months later.

At my appointment, the neuro indicated that he did not believe that I had PD and indicated that I might possibly have a condition called dopa-responsive dystonia (DRD), although consideration was also being given as to whether I may have spastic paraperesis. At this stage the neuro told me to gradually increase my dose of Madopar to 200mg 3 x a day and advised me that he was going to refer me to a neuro who specialises in movement disorders.

I subsequently saw the neuro who specialises in movement disorders in March 2015 who, having carried out a thorough examination, was of the view that I may have PD rather than (DRD) and indicated that he would request a DAT scan. It was further agreed that I would gradually withdraw from taking my dopaminergic medication to clarify whether I really was benefiting from taking it.

I saw the neuro again 3 weeks later at which stage I had withdrawn all my dopaminergic medication and had not taken any for a few days and boy, did I feel stiff! Having carried out a brief examination, the neuro advised me to gradually put myself pack on my previous dose of medication and started me on 1mg of Rasagiline a day.

I then had a DAT scan in late May 2015 and was subsequently advised that this was ‘normal’ which made the diagnosis of PD much less likely. At this stage it was agreed that I should continue taking my medication and I would be reviewed in 6 months’ time by which time the results of some genetic tests should be available.

By the time of my last appointment with the neuro in December 2015, the results of the genetic tests had come back and they were ‘normal’. Prior to my appointment with the neuro, I had gradually reduced my dose of medication and did not take any at all on the day before as I wanted him to see me again in a non-medicated state which he said he found very helpful. On this occasion, the neuro re-examined me quite carefully after which he indicated that he did not find anything on examination which would be in keeping with a previous working diagnosis of either PD or DRD, although he was still of the view that there was definitely a problem. The neuro also discussed with me the possibility of this being a psychosomatic or functional disorder but indicated that he was nor certain of this diagnosis either. We also discussed some concerns which I had over my medication and it was agreed that I would try taking a lower dose of Sinemet Plus 4 x a day instead of the Madopar which I had been taking. The neuro also said that he would refer me back to neurophysiology for further investigations and confirmed that he would chase up the results of some further genetic tests which were outstanding so that’s basically the situation I am in at the moment.

For any of you who’ve managed to read all this without dying of boredom, thank you - I’ve got to the stage where I sometimes feel like I’m going crazy with it all and it can be quite hard to stay positive...
 

 


#2

 

Welcome Pussycat

That's quite a roller coaster you've been on and are on I'm sure we can all relate to the words within it don't feel like your going crazy we're all friends feel free to let it out anytime :)

 


#3

Thank you for your response - I'm hoping that joining this forum might save my sanity as well as my relationship with my partner as he has been the only person who I can really take it out on and I know that it can't be easy to live with me at times!


#4

hi pussycat,

All the Neuro's you have see which hospital are the based at? And yes SA is right you are not crazy you need help medically from the right people. Quite frankly I would say you have been to hell and back and beyond.

 

BB x


#5

Hi bettyblue


All the neuros who I've seen to date have been in South Yorkshire. What's really frustrating about all this is that, right from the start, all the neuros who have examined me have indicated that there appears to be a problem but, despite all the tests etc. which I have had, nobody has been able to find out what is wrong with me. When I first started taking the Madopar back in July 2014 and noticed some improvement in my symptoms, I actually thought that I was getting somewhere as, whilst I didn't want to have PD, at least I would have known what was wrong. In the absence of a diagnosis, I have to admit that I've often spent many hours 'Googling' my symptoms which I know does me no good whatsoever... I neglected to say in my introduction that I'm 46 years old.

 

 


#6

i was dx with PD age 47 so it is quite feasible that is what you do have the neuro i saw straight away i think also works out of Sheffield hospital his name is Dr sharrack found him to be very straight talking some don't like him personably i do.

i would recommend asking your gp to refer you to him if travelling to Sheffield is not an issue the fact that madopar improved your symptoms suggest a pd type of condition, experience on this forum states the never ending problems some have to get a dx. i was lucky dx within 3 months.

i hope this helps and wish you the best of luck bb xx


#7

Hi Pussycat,

I am so sorry to hear your story. Your symptoms don't sound typical of PD. And if your DATscan came back as normal, then it seems unlikely that you have it. I was shown the image of my brain, after my DATscan and you could definitely see the area affected by dopamine depletion, was much smaller than a normal brain.

I'm no doctor, but have you seen anybody who deals with spinal problems. A lot of the things you mention, sound as though they are coming from the nerves in your spine.

Just a thought ......... but hey, what do I know!

I do hope you get some answers soon. I can understand how frustrated and frightened you must feel.

 

Twinks.


#8

It was in fact Dr Sharrack who gave me the trial of Madopar back in July 2014 and he referred me to the neuro who specialises in movement disorders in March last year. I found Dr Sharrack ok too - I am actually due to see him again next month so I will just have to see how that goes. I think the main problem in my case is that the symptoms which I have presented with have not been typical which has led to the difficulties with diagnosis.


#9

Hi Twinks

Thanks for your reply - as I stated in an earlier reply to bettyblue, I think one of the problems in my case is that my symptoms have not been typical which has led to the difficulties with diagnosis. The symptoms which I originally presented with were highly suggestive of MS, but obviously that was ruled out after I had MRI scans of my head, neck and my whole spine, in addition to which I have since had a couple of EMG tests which I assume would have picked up any problems with my nerves, but then what do I know either!

Some of the symptoms which I have developed since have probably been slightly more typical of PD in that I have reduced swing in my left arm when I walk and the neuro thought I had slightly slurred speech as well as some loss of facial expression. My postural reflexes have also been described as being extremely poor whenever I have been examined. I sometimes have problems with writing in that it starts to become really small after I have written a few lines or so and I also regularly suffer from restless legs which I believe can be a problem for a lot of people with PD.

When the neuro told me that the DAT scan had come back normal, he stated that it did not definitely rule out PD as a diagnosis but made it much less likely so I suppose I'll just have to carry on taking the meds for the time being and see what happens.


#10

Hi Pussycat, 

Were you taking medication when you went for scan, cause my neurologist said  even though she was 99.9% sure i had PD she said i had to wait till DAT scan results back cause it may affected the results of the scan.

Hope you get sorted soon

OllyBex

 


#11

Hi

you seem to be in the same boat as me.   I have had right sided issues, twitches, jerking and cramps for several years.  This  moves to my left sometimes but prefers the right.  Like you had checks re Ms and scans etc.  internal vibrations, palpitations and anxiety.  I twitch and jerk more if excited ,stressed etc.   I feel finally tuned 

I was put on sinemet for six months and it made me feel poorly.  I had a dat scan which did not confirm parkinsons.  I stopped sinemet .   I then also saw a movement specialist who was quite dismissive and said not Parkinsons

to cut a long story short have been back to Neuro last week who will look again at EMG and autonomic testing but feels my symptoms remain parkinsons in nature.  I am also having trouble with vibrating teeth 

 

she explained that some people Bob along and may not get much worse (no pun intended)

 

I have learnt to accept the main thing to do is wait and see and time will tell.  I found this very frustrating at first as I wanted a definite answer however am trying to be more laid back about it

Please keep me updated 

take care

Karen 

 

 

 

 

 


#12

Hi Pussycat. Poor you - you have certainly been through it and are still going through it. These neurological conditions are a right b......! They seem to affect everyone differently - I suppose it depends where in your brain/nervous system things are 'going off'. I hope that someone gets to the bottom of what is going on for you and you get treatment that works. 

This probably sounds daft but isn't there some research going on in Scotland to do with body odour changing with PD and that this change may be a 'marker' for having PD (even when signs aren't necessarily visible and that this could be used as an early detection method). It's probably still at the trial stage. I saw something about this on the news - a woman with a great sense of smell who noticed that her husband's (who developed PD) body odour had changed. She was able to correctly tell from sniffing T-shirts that people had worn whether they had a dx of PD or not and was surprisingly accurate. The reason I 'pricked up my ears' is that my Mum has PD and I've got this anxiety that I'm going to get it (or perhaps already have it!) too. Which of course gets worse every time I notice that I've bumped into someone, or that I'm getting muscle cramps etc (I suppose I'm just hyper aware). All I know is that my Mum used to be fit and active in her late 40-50s (she was a Munro bagger), then started getting physical symptoms e.g. loosing her balance (falling off her mountain bike), getting knackered and feeling that her muscles were 'wasting' away. However looking back she probably already had PD symptoms before she was diagnosed (at 58 with Atypical PD) - e.g. her handwriting was very small, she had what she thought was a 'frozen shoulder'. My Mum's never had a tremor - 'just' stiffness, rigidity, extreme fatigue and a raft of non motor symptoms. Her illness has puzzled and perplexed her (see was a doctor for a while and so was 'self-diagnosing'). It's taken her a long time to accept that what she's dealing with is, most likely, PD. That is certainly the treatment she's been on & still is on. Whatever neurological thing she has it's 'challenging' to say the least but, by God, she has kept going and I can't but admire her tenacity - every day must be a series of Munros for her (but no big party in the pub at the end!) Bless her darling heart. I so wish her life was easier. She bears such a lot.

Good luck Pussycat, keep on keeping on. Be as lucky as your avatar - so cute! Tx

PS Do you have a real cat? I'm blessed with 'Maya' who is an elderly but absolutely adorable black cat (the sweetest, most gentle cat I've every had. She has become my 'familiar'. I hope she stays lucky and brings me some too!)


#13

Hi. I have different symptons, but similar experience in getting diagnosed. I feel I have been pogosticked through all sorts of specialists and am now waiting for datscan. It was actually a relief when movement disorder specialist made diagnosis of pd but am scared if it does not show up will end up on same bandwagon as you. I think this is so frustrating that you take one step forward and think help is in reach and then it goes pearshaped. Hope you find some resolution soon.


#14

I had the same problem getting a diagnosis. It is annoying and fustrating . Been messed about big time.

But it all gets sorted in the end .   Sit tight.