Undiagnosed!

Hi All,

I am in my early 40's and for most of my life, I have been known as 'clumsy' or 'accident prone'. I had a fall in May of this year (the result of nothing more than losing my balance) and thanks to an observant A&E doctor who felt this needed looking at further, referred me to the neurologist.

Prior to this, I have always felt there is something not right. I cannot walk in a straight line (and if I don't look straight ahead I have a tendency to go widely off course!), my coordination is terrible and my balance is abysmal. Some days it is worse than others and when it's bad, I'm also dizzy, nauseous and very, very tired (to the point where I struggle to function). My GP and the Neuro both noticed my eyes were also flickering when I looked far left and right.

During the neurologist consultation, we talked about family history. My biological mother (I'm adopted and had very little contact) reportedly had MS and was in a wheelchair. She has since passed away. The neurologist suggested that MS may have been misdiagnosed (we are talking more than 20 years ago) and that it may have been Ataxia although I don't know enough about her condition to say for sure.

I had an MRI and this came back as 'within normal limits' and I am due to see the Neuro again in December so I would really appreciate any guidance on what sorts of questions I should be asking of him. At this present time, I have no clear diagnosis so it may be something totally unrelated!

Apologies for the long post!

11 Replies

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  • Hi Jay1972 :-)

    Don't apologise for being long winded, many of us would do exactly the same :-)

    Because of the rare nature of the condition, it can be a long frustrating road to

    diagnosis.

    To me, your symptoms sound familiar. But, it would be best if you can ask your

    GP to refer you an Ataxia Centre, there's a list on AtaxiaUK. A Neurologist who

    actually specialises in Ataxia would perhaps put your mind at rest :-)

    I was diagnosed by a Neurologist who specialised in MS, but my MRI showed

    distinct Cerebellar Atrophy.

    In cases of Ataxia, quite often an MRI shows Cerebellar Atrophy, which is shrinkage

    or distortion. This, along with obvious symptoms, can make a diagnosis easier.

    But sometimes there is no atrophy, so this is where it's best to ask to be referred.

    I hope this is helpful :-) xBeryl

  • Thanks wobblybee! I'm due to see a GP this week (I say 'a' because getting to see my own is sometimes difficult!)

    I thought as the MRI was ok that it was all in my mind but GP and Neuro both think something is wrong with my cerebellum!

  • is your speech also slurred? When I went to the GP, in my late 30's it was due to my balance and speech, eventually the diagnosis was Fredrick's ataxia but only after a second consultation since the first neurologist said I was to old for Fredrick's............. have they considered Fredrick's ataxia? to confirm it is a blood test. Good Luck Nigel

  • Hi Nigel,

    My speech is a little slurred on really bad days but otherwise it's not too bad!

  • same here, worst when I am tired, enough for my employer to sign me off sick.............

  • I'm still working although have been referred to our OHU. Could do with working less hours to help with the fatigue!

    I'm convinced people at work assume I've had a skinful most days! In truth, I'm tee total as alcohol makes it worse!

  • my husband had several years of seeing neurologists and has only been diagnosed with friedreichs ataxia 9 years ago in his forties, despite symptoms for many years before, although his symptoms sound similar to yours I would agree with previous post and ask to be referred to a regional ataxia centre, Newcastle, Oxford and London I think. Your symptoms could be due to a number of conditions so I would ask to see a specialist at one of the above. My husband was the same as you at work and he found reducing his hours has helped. From experience we have found that gp s dont tend to know a great deal about ataxia or less common neurological conditions, we have found that trying to stick to the same gp is helpful . Hope you eventually do get a diagnosis as we like you always knew something was not right but no one could tell us what and it was only when we went to specialist ataxia centre we finally got a diagnosis.

  • Hi I have ea2 and your symptoms sound very similar to mine. The eye flickering is nystagmus which is very common in ea. I too don't drink since alcohol brings on an attack as does stress, exercise and caffeine. All are well documented triggers. Diamox has helped control the attacks - although I still can't walk in straight line! Good luck with your diagnosis x

  • Hi Jay,

    I can totally sympathise as I was also regarded as clumsy, and worse. Boys being boys, I was regarded as useless as I couldn't keep up in running or ball games, etc.

    I was only diagnosed with Ataxia last year when I finally got to understand why, why, why.

    As to your diagnosis issues, I can only offer you hope that it will be resolved. The forum moderator, Harriet, will no doubt have some good advice for you. Otherwise, do contact Ataxia UK for help. You will get a friendly ear.

  • Thanks to everyone who replied! I'm grateful for your advice and support.

    I had a stressful day last week which led to a bad day for symptoms and culminated in another fall resulting in a further trip to A&E. This time it was a sprained wrist and torn tendons in my thumb! I'm nagging the Neuro's secretary for my appointment for December to be brought forward!

  • I know what you mean about different docors. I'm at a new surgerry and have nevre seen the same doctor twice. They keep coming up wiyh new excuses evrry tome I telephone to make an appointmnet

    Which takes a long time becasue of my slurred/stammer speech

    Sometimes I feel they are not interestdd and I thonk to myself I shpild not have bothrerd hoing to se him/ her.

    I feel more happy when I'm back home. One even asked why I was was in a wheelchair and did i wheell own way yo the surgrry for heavens sake!!!

    Dr's should know or get to knoow more aboit patients conditions before they just say "wait until you see your Neurologist or whateverr".

    Anyawy. I try not to see any GP's now as I feel itis pointless.

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