Newly diagnosed

As this is my first post, I’d like to apologise in advance if I can’t work out how to respond correctly.

Recently diagnosed in December 2019, I’m still trying to get my head around what this truly means in terms of my possible future ability to carry out the most menial tasks.

As someone who was previously really active, i.e. running, fitness and always doing DIY and gardening etc myself and not being reliant on anyone else; I feel completely devastated by the diagnosis.

At present, I’ve only been told that I have atrophy of the cerebellum which is causing my numerous symptoms, I’m due to see my Neurologist tomorrow who should now have my blood test results which may determine the cause.

He told me in December that I may need a lumber punch if the blood tests are inconclusive - does anyone have any experience of this and should I expect any after effects? I’ve read that it can cause dizziness (not really an ideal scenario given what I already feel like).

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Cerebellar atrophy is just the cause of various symptoms. It is important to find out if there is any genetic component. For which, it is important to have genetic testings… There may be however, other causes of cerebellar atrophy, which needs to be ruled out.

Hi, welcome🙂 I haven’t had a lumber puncture myself, just MRIs, an EMG (Nerve Testing) and numerous blood tests.
You must be feeling apprehensive, I know I was at the start of all this. I was never what you’d call an especially active person but I did enjoy being independent.
Generally speaking, you can find lots of info online about ataxia, and you get an idea of what’s likely to occur. But that doesn’t mean everyone has the exact same symptoms, or progress at the same rate, no matter what type is diagnosed🙂
Try not to get too stressed, or overtire yourself, both of these usually effect symptoms and make them more challenging.
Something to bear in mind, even if Cerebellar Atrophy is detected, and ataxia is diagnosed, it can often be less than straightforward to pinpoint the exact cause of the ataxia. Some people are ‘lucky’ and correspond with types already found, but many of us are still frustrated because the cause remains elusive.

I had a lumber puncture and I was dreading it. In truth, the doctor was lovely and I didn’t feel a thing, after the initial local anaesthetic. The important thing is to lie flat for a good few hours afterwards to prevent any headaches. I was taken to a recovery ward for this.and lay flat on the way home.

Jingle -
That sounds just like me! I used to be extremely independent, except for the gardening. It all started with “dizzy” spells in 2015. It was VERY slow progressing. I was ok, except for the dizziness for two years. In 2017, I thought “I can’t possibly be dizzy for the rest of my life!” It turns out I can! I had an MRI and saw 3 neurologists, an ENT, and a balance specialist. I have Ataxia, but it’s not hereditary. It’s completely random. I now can’t talk audibly (very frustrating). That’s how we communicate! When people hear me, they automatically think I’m stupid! I have to use a walker, and I can’t write too well. I HAVE TO STRESS… everyone is different! Some people only use a cane. Some people are still working!
We’re all here for support. Lean on us. Even people who are close don’t really understand.

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Thanks for the responses. It’s good to hear of the experiences of others as I feel like I’m in limbo at the moment. Trying to stay positive, but it is a challenge.

Well, saw the neurologist yesterday who now has all my blood test results, which were clear. Had some more blood taken for genetic testing and then will have a lumber punch once these results come back. I was hoping for a gluten allergy, and had already been on a gluten free diet since December, but the bloods were clear for this. May stay gluten free though as I’ve read that a large percentage of people diagnosed with idiopathic ataxia have found there’s a link to gluten even though this hasn’t shown up in bloods. Maybe clutching at straws, but they’re the only straws I have so I’m going to hold onto them for a while.

I too suffered from mild dizziness/vertigo for a couple of years from about mid-2017. Over the course of a year this became progressively worse until I went for an MRI on my ears/brain in December 2018. The brain scan was clear, so I went through ENT and then a balance clinic, I was then referred to neurology and a 2nd MRI scan (which I was also told was clear). Eventually I saw the neurologist who reviewed the scan from December 2018 and could see cerebellar atrophy quite clearly. So it should have been picked up 12 months earlier and I could have already been working on things to retain my balance/independence sooner.

Anyway, I’ve started exercising now and found it has helped with my balance. I still feel dizzy and nauseous but the balance when walking on a flat surface is slightly better.

My speech has been slurred since August 2018 and has got sightly worse - I’ve asked for a SALT referral. I find it incredibly frustrating, not being able to say certain things and sounding like I’m drunk, so I can’t imagine what it must be like to be non-verbal - @JoyfulOne you have my full sympathy.

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I’ve been diagnosed with ataxia - that’s all I know. But from reading about it, it could be idiopathic like yours. In my case it is due to something that happened decades ago. Is this true for you too?

Hi, I’m not sure if mine is idiopathic yet. I’ve had a load of blood tests that came back negative and then a second set of blood tests to see if it’s hereditary. I hope it’s not. After I’ve got the blood results, and I assume if they’re negative, they’ll undertake a lumber punch. This will be to test spinal fluid (I’m not sure what for yet). If that comes back as negative, then it’ll be idiopathic - that’s my understanding anyway. Maybe someone else will jump in and correct me if I’m wrong?

If it is idiopathic, I can’t think of anything that could have caused it.

Have you been diagnosed recently?

Just to let you know, the standard blood test for Gluten Ataxia is not correct. It’s actually a test for Celiac. There is a blood test for GA but I’m not sure of what it is anymore. Perhaps someone else reading this can give you that information. :grinning:

'Googling IDIOPATHIC says it’s an adjective for any disease of unknown origin. In that case, mine isn’t idiopathic ataxia after all since I know the cause. This site (which I’ve not seen before) says there’s up to 100 types of ataxia. I’ve no idea which one is me. Just ataxia

firstly welcome to our group and I hope you find it as informative as I have and still do.
I have granddaughter with coeliac and know that you must eat lots of gluten food before blood test, If you havent eaten gluten for a while, the test wont reveal any sensitivity.
Lastly, I have had three lumbar punctures and can honestly say they were not painful. If you have tremour it is stressful to stay perfectly still and you must stay lying down ideally for 24 hours. If possible, insist on staying there and most importantly sip water continually… through a straw is easiest.
I hope all goes well. x

SHAOIB IS SPOT ON, YOU ARE IN YOUR 50S, there are 2 waves, my father diagnosed in his 50s. He passed on now, cancer. I am in my 40s, my bro 47, we both haveinhereted form from him, after my paternal grandma…

lumber puncture is unpleasant, to say the least, but medics are VERY SKILFULY TRAINED, not everybody can do it… I think if GENETICS TEST ruled out hereditary, go for lumber puncture.No idea what caused your late onset…some neurological thing.

LIFE IA DIFFERENT, not worse, just different and STAY POSITIVE. I keep forgetting myself and caught myself without my walker…I cannot go anywhere WITHOUT, my balance shot to bits, my tongue slurred, have episodes of weakness. 2x a month…weather changes interefere with me, winter horrendous, lack of light. sleepy,fatigued.Obviously END OF NEEDLE WORK, GLAD IF I CAN STILL THREAD THE NEEDLE.NOT SPORTY FROM KID. STHG WRONG WITH MY PERCEPTION OF DISANCE, CANNOT DRIVE, CANNOT JUDGE DISTANCES AND MIRRORS…exercise, eat WLL HOME COOKED, ake vit. and you’ll be fine, OBVIOUSLY WITH ATAXIA.ok I buried my husband, cleaned old flat, split inheritance for his 4 kids from the 1st marriage, moved in to new one, no staires, mo0re suitable for my independence, went to my native Slovakia, survived xmas and hey presto, we are in February…ATAXIA IF ONLY MO0BILITY AFFECTED IS IN A SUFFERER’S HEAD IF YOU ALLOW IT. I may be disabled, but sharp as a button, true my legs are buggered, but there is nothing with my brain, apart from cerebellum, that is like a vizzen shrunk walnut…STAY POSITIVE, IF ANY SIGNS OF DEPRESSION, SEAK TREATMENT FOR DEPRESSION.

My lumbar punch went off with no problems besides my very considerable anxiety prior to having it done. But, both prior to, and after, my having that procedure, almost everyone told me that, as with any invasive procedure, the great probability is that everything will go along perfectly. But, people should also realize that there will always happen to be those cases where maybe your doctor is the one in 10,000 who performs it while drunk, or high, or without totally sanitizing his instruments or hands, or some such of a malpractice. As in most things that we do in life, we have to understand that most medical procedures have a risk of unexpected outcomes. Your doctor probably will explain those risks to you. If those risks seem, to you, to possibly outweigh the benefits of having the procedure done, don’t have it done.

Jingle - Did you have the lumbar puncture yet? If not, ask questions. Why? What will the results show? Then what? It’s too much to go through to have it if it won’t tell you what you want to know.
Also, idiopathic means it has happened for no apparent reason. You won’t be able to tell why you got it. I have idiopathic Ataxia. I was living my life minding my own business, and it got me!

:thinking: I was initially diagnosed with Idiopathic Cerebellar Ataxia, I’ve had several expansive blood tests, and MRIs (one with contrasting dye)…but so far there has been no mention of having a lumber puncture.
There can be some types of ataxia that don’t show Cerebellar Atrophy, and only genetic types are visible on lumber puncture tests.
My Neurologist has mostly relied on my specific symptoms to make a diagnosis of Episodic Ataxia.