Another newbie

Hi everyone

My husband was diagnosed with SCA about 6 years ago. He's now just 50.

They haven't been able to identify the affected gene but his neurologist is clear that's it's SCA.

When I met him 20 years ago he was a runner. Now he walks with 2 sticks. In the last two years he's had one fall that resulted in a fractured skull and brain bleed then almost 2 years to the day later he fell and fractured his hip. He's only just off crutches (having fallen last Summer).

We have 2 daughters. I fear the implications for them in the future. I fear where this disease is going for my husband.

He has dystonia (Botox injections in his arms to treat this caused a loss of fine motor skills in his hands), nystagmus, poor gait (people think he's drunk), mood swings...

I'd be grateful for any advice and insight any of you have.

He attended at the John Radcliffe Hospital about 4-5 years ago to take part in a study there. We've heard nothing since. I suspect the funding was pulled. SCA does not affect enough people to justify funding apparently.

I look forward to hearing from some of you

Caroline xx

8 Replies

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  • Hi there

    I was diagnosed with SCA6 4 years ago inherited from my mother as it's 50/50 autosomal dominant so just the luck of the draw

    I'm 52 now and walk with an elbow crutch as a stick is not sturdy enough for me

    I have tremors, slurred speech, very bad gait and balance, rubbish coordination etc so understand as much as anyone

    I also have 2 boys so yes it is a worry but they'd both rather not know if they carry the gene and I don't blame them

    I can't work now and my husband is my full time carer so we're on DLA and carers allowance and his pension so can't claim any benefits would you believe?

    Luckily we own our home so no mortgage

    Life sucks as I used to be be active, loved dancing and and walking

    Even going on holiday is a chore

    I drink too much, have virtually no sex drive, my whole personality has changed, depression etc

    I tried counselling which helped me to see that although I'll never ever accept this bloody awful illness, I'm different now and there's buggar all I can do to changit so I have to change the way I do things.

    It's not easy when you've been a different person and it's virtually as difficult for the partners to see their loved one as they are now

    I put my hubby through hell and back on occasion probably trying to look for blame somewhere and as he's closest he gets the brunt.

    I try and do as much as I can and even took myself and a friend to America a few months ago to do a trip to New Orleans Memphis and Nashville which although hard at times, I did it and fulfilled a life long dream to see Graceland and get drunk at BB,s on Beale street in Memphis

    I've written an article about this and how counselling has helped in the ataxia uk magazine due out soon

    Life doesn't have to stop it has to change

    I have Ataxia Ataxia doesn't have me!!!

    Much love Bev

  • Dear Caroline, I'm so sorry your husband is dealing with this! I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause, progressive, symptoms 24/7), although I had very minor symptoms starting about eight years before diagnosis. My ataxia effects my gait/balance, dexterity, speech, swallowing and vision and I have dystonia also. I've had genetic testing for most of the known dominant and recessive ataxia's which was either negative or inconclusive. I'm 63 years young now and worry about my two grown (in mid 30's) children also, as well as my three (thus far) grandchildren. I have hope that if any of them have to deal with this someday, there will be something that can really help them! I use a cane (stick) when I leave my home, but am able to walk (extremely carefully) in my home without it (if need be, I grab onto furniture, kitchen countertops and bounce off walls...,ha!). Anyway, the only advice I have is to exercise for strength and balance if possible (one can do this in a seated position, as well as laying down on a bed or floor) and eating as healthy as possible (no processed food or sugar and lots of veggies/fruits, which contain natural sugar). Also, he may want to consider seeing a therapist to help with dealing with this. Several years ago I did that and it was very helpful for me! You can Google exercises specifically. I so wish I could wave a magic wand and make this go away for all that are inflicted! My best to you and your husband..., ;o)

  • Hi Caroline, welcome🙂

    I suspect that after 6yrs you may already have contacted AtaxiaUK on behalf of your husband and received an information pack🤔 If not, do get in touch with them, you'll be sent useful info for your GP too🙂 See ataxia.org.uk for information. It's good to join a local Ataxia Support Group, it can be an enormous help just talking to someone else who totally understands, there are links on the website🙂 Coping 24/7 with ataxia symptoms is very challenging, caring for someone is also challenging. Carers themselves need support, on Facebook search for Caregivers Support Community🙂

    It is a worry, wondering if you've passed a gene on to your children, the same thought has crossed my mind. Often people feel better if they know the specific type, and if it's genetic, whether it's been passed on. I've been told mine is Recessive. In that case, it had to be a mutant gene carried by both parents, who were themselves unaffected. If only one parent carried the gene it wouldn't have been passed on. I have a brother who shows no symptoms, and has no interest in being tested😏

    My symptoms started to become troublesome during my mid 40s, I'm now 66. Poor balance and eye problems were the initial symptoms, followed closely by fatigue. Over the years, many other common symptoms have made an appearance, coming and going irregularly but progressively. But, you have to bear in mind not everyone has exactly the same symptoms, or progresses the same way, even within the same family.

    Another website for helpful reliable information is ataxia.org This site has particularly helpful FACT SHEETS.

    🙂xBeryl

  • Hi Caroline,

    Go to this website, there is lots of information from a medical doctor who suffers from ataxia himself. walkingwithataxia.com

    He is coming to the UK this year you maybe able to see him.

    I am also an ataxia patient - SCA 3 - Machado-Joseph disease. It is genetic and I have inherited this from my father. I am also scared for my son, but am hopeful that there will be some cure for his generation, however I am assured that it will end there, because if he decides to have children, they will clean the gene from the sperm and do in vitro fertilization.

    I am 63 and stil walking unaided, I eat healthy and do not drink at all. I exercise a lot and am very poisitive and keeping my spirits up, living in the present and not worrying about the future, as worrying changes nothing, helps me. I am in Portugal and am now my case and others are being part of a study

    at the local university. I am hopefull that something good will come out of it, if not for me at leas for the following generations.

    Best wishes

  • I, like your husband has an unnamed SCA as has my sister (other sister hasnt got sca) one of my three cousins and my aunt . I was diagnosed when I was 40 and was told it was progressive .I use to play alot of squash then tennis and also cricket and now play golf only if I have a buggy as I also walk a short distance with two sticks .I luckily have not fallen with such dramatic consequences . My sister and I go to the Ataxia centre in London Queens Square and we see Dr Giunti who keeps an eye on us and get things done . I needed to see a specialist about my pee so next time I went down I saw the specialist! plus she arranged an OT to see me . If you get a chance mention this centre to your GP and get a referral ,dont take no for an answer . The people at Ataxia centre know alot and they might suggest something or someone that can help .

    Anyway all the best , keep being cheerful ,however hard it is especially ,in front of your hubby

    cheers Dave

  • Hi

    I know exactly what your husband is going through. I have cerebellar ataxia. No gene idenfied as yet.

    Have you looked into PIP? Ataxia UK should advise. May help financially?

    I'm 46 years young & am ill health retired. Have been tested for ataxia telangestasia but negative. So still ongoing. Have cervical dystonia. Botox injections 3 monthly. Nystagmus etc etc. Can hardly walk but rollator gets me around inside & out. Sticks aren't sufficient now 😢

    Very difficult but I try & stay positive. Don't dwell in the past & what I could do. Ataxia won't beat me.😜😆

    I also have dysphagia (difficulty swallowing) so use a straw to drink. Even coffee & tea but i make sure it's cool enough beforehand so I don't burn my mouth!.

    I eat healthily, don't drink alcohol & exercise lots. I used to go spinning but ataxia put paid to that ! Exercise helps tremendously with ataxia. Physically and mentally too.

    Mindfulness helps us focus on other things.

    Has your hubby got a Radar key? Opens disabled toilets. I paid £5 & obtained via council. Invaluable.

    I decided to not have children because of my ataxia years ago but too late now anyway! Your children can get tested if they want to of course!! I think I'd want to know so I can plan ahead. Ticking time bomb. They may not have it. My parents didn't. Carriers unfortunately!

    It's difficult for others too. Especially if you are caring. Think about you too.

    Keep plodding on & keep your chin up. Remember you're not alone.

    Take care.

  • Thank you all for your replies.

    My husband does not know I posted on here but all your help and advice and support has left me feeling more positive.

    His neurologist told us how rare it is. It's a relief to hear from others.

    I wish you all well.

    Thank you for your kind wishes

    Caroline x

  • Hi bev its scruffbag we have just been talki g on my status about ataxia and how i lost my son. I have just red wot you have written about how your ataxia effects you and your family and i also like you had said to me earlier have the same symptoms as you. I inherited the gene for sca 6 of my father. He got ot of his mother and so on. My gran wasnt diagnosed till she was in her late 60s and even though she couldnt walk for years and couldnt speak properly we didnt know wot was wrong with her till later on . she was like that far so long we just thought that was the way she was naturally. Then after her death the drs told my father and his brothers to get tested which they did. All 3 were diagnosed in their 40s and now they are all in wheelchairs and are basically unable to speak swallow or stop shaking to the point they look just like my gran did towards the end of her life. After i moved back up north i too was tested and the neurologist confermed i had the gene and in my medical examination was told my gait was wide and unsteady and my eye sight was slow but i walked unaided at that point. That was in my 30s im now 45 and now walk with a stick outside my bungalow . i have problems swallowing liquids but not food yet.ive noticed my handwriting has become very large and so untidy ( like a 5 year olds) i lose my balance constantly and get dizzy often. My hands are starting to shake especially wen im tired. Its hard watching my father become like my gran and knowing i have that to come too is hard to accept. Has your eye sight deterated much? My optician said last week my sight has deteriorated 70% over last few years and now where glasses constantly. Xxx

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