Spinocerebellar ataxia type 6 test

[molgin]

I wonder if anyone could give me a bit of advice. My Aunt has just been tested positive for spinocerebellar ataxia type 6, and my Mum has all the classic symptoms so is also waiting to have tests. They have discovered my grandmother and great grandmother had it too. If my Mum tests positive I have to make a decision if I want to have the test. I have been experiencing balance problems myself, and have had sudden but quick spells of vertigo where everything spins for a few seconds then is gone. I've also had a lot of pain in my joints, mostly hips, for a couple of years now. Do these sound like tell tale symptoms and would be sensible for me to have the test too? I'm 41. I know it can affect driving licences and insurances once you have a diagnosis, but at the same time I want to be safe while driving. Is it helpful to have a diagnosis or does it cause people more problems once they know they have it? Thanks

[Caraxxo]

Hiya, firstly I'm so sorry your family's going through this, I went through the same myself I had balance problems n got tested for it and I got diagnosed with it. It wasn't really a shock cos I already kinda knew I had it. But my sister doesn't. But she didn't have any symptoms either. I would say test for it because once you have a diagnoses u have a reason to why u can't balance well etc. And you can get help for it. I don't think I've got worse since I found out. I'm 26 and have spinocerebella ataxia type 2

Good luck

[klazien]

A diagnosis of ataxia may affect your insurance, will give you an explanion of your problems but will not cure you. So what do you find more important?

[molgin]

Thanks both for your replies. I've never even heard of SCA until recently so it's all very difficult to take in. I have 2 children and 2 grandsons so if i'm positive then it has potential to have an impact on all my family. I'm still waiting for my Mum's test to come through but have decided I will definitely get the test. At least my kids can then make their decision about themselves on fact. Like you Caraxxo, I won't be surprised if I have it, I'm showing signs of so many of the symptoms that I've read up on. My Mum can hardly walk without wobbling and sounds like she's drunk nearly all the time, so I guess we are just waiting for confirmation. The positivity of people sharing their advice and stories on here is helpful though, so thank you!

[Iain_100]

I reckon you are definitely making the right decision. As klazien pointed out, it could have implications for insurance etc. And just having that diagnosis won't cure your symptoms at all. But you will know for sure - and can plan accordingly to practically manage your condition. Also, being in regular contact with medical professionals/other sufferers will mean that you are more likely to hear of any medical breakthroughs at the earliest opportunity. And should this be the case, time might be of the essence (in a case where the symptoms cannot be reversed, but their progression can be halted). This far outweighs any other concern.

Hopefully you won't get that diagnosis at all.

Iain

[molgin in reply to Iain_100]

Thank you Iain, this is exactly where my mind has been heading. I've already booked an appointment with the GP to start the referral process as it appears to take some time. If my Mum is negative (slim chance seeing all her symptoms), i can always cancel. We have a copy of my Auntie's letter from her neurologist to take with us, so at least we know exactly which type it is. I'm terrified but there is no point in hiding from it.

[Iain_100 in reply to molgin]

It might be the case that you know more about ataxia than your GP. But you are taking all of the necessary documents with you, so even if he/she knows less than you, then at least they can refer you on (which is another wait!). You are already well aware that every stage takes time - so the sooner that the ball is rolling....

And, as you say, you can always cancel if your Mum gets good news

[february]

Dear Molgin, I think you're wise to be tested! I have Sporadic Cerebellar Ataxia (unknown cause, progressive, symptoms 24/7) and not knowing "why" troubles me! I've had recessive and dominant genetic testing for all the known ataxia's, which was negative. I'm hoping to have genetic "genome" testing in the future, as my neurologist suspects I may have a rare type of recessive ataxia that will show up with this "genome" testing. Anyway, although there's no cure for ataxia, it will give me some peace of mind to have a reason for this, if there is one. I also have grown children and grandchildren and would like to know if they'll be affected. Although I don't have Spinocerebellar ataxia, I can relate to how you feel! I've always thought knowledge is power, even if it's not what you want it to be! My best to you...,;o)

[molgin]

Thank you for all the advice! It must be very scary for you february, to not know if your family are at risk. I've seen a lot of people on here mention they haven't been able to pinpoint which type, so in that respect I'm lucky as I know which one is the faulty one, so I guess they'll just test for that. I expect all the waiting for my Mum's then my results will be very nerve wracking. I haven't spoken to my kids about it yet. I keep thinking i should at least wait til my Mum's results are in. I don't want to worry them necessarily. How do you cope with symptoms and what are they. I'll need to support my Mum and give advice to her as she doesn't know her way around the internet like I do to get onto pages like this one xx

[Jim95]

Hi I used to be a police sergeant till 2006 but the stumbling and falls were getting noticeable I walked everywhere now I can hardly walk I have I mobility scooter and a wheelchair and I still drive but I don't know for how long

[bevvick1964]

Hi Molgin. I have SCA6 and my symptoms started in September 2009, losing my balance pain in my joints especially in my knees and the Vertigo feeling etc but I didn't do anything about it until someone at work commented that I was walking like a puppet!!!

I'd had an operation in May 2009 that had complications and it left me being very ill and i couldn't eat properly so i put it down to that and started talking vitamins but my symptoms didn't get any better so I went on to Google and the word Ataxia kept coming up so I contacted Ataxia U.K and they sent me an information pack and I knew that I had it. This was 18 months after the first symptoms started so I was worried and I was worse re balance and Vertigo feelings etc. My GP did some Neurological things and said that it was concerning and referred me to Neuro.

Unfortunately I had a seizure and was admitted to hospital so got to see the Neurologist sooner rather than later.

I had all tests known to man and eventually in 2013 I had genetic testing which showed I had SCA6 and that it's autosominal dominant which means that you have a 50/50 chance of getting it so my boys could get it which is a major worry.

My Mum has the same symptoms and is waiting for an appointment to see a Neurologist as her old GP diagnosed her with Vertigo 10 years ago and she's been talking medication all that time.

Her genetic testing results will show if her reading on a certain point are higher or lower than mine. If they are higher then it means the disease has lessened for me and will possibly be lower if there's a chance my boys will get it.

You should have the tests as you need to put your mind to rest and at the end of the day you either have it or you don't simple as that, and if you do then you will be able to see whether your levels are higher or lower than your Mums and you can prepare for it.

Horrible I know but at least you'll know and you'll be able to access different things that can make life easier.

Yes it does affect your life insurance, I can't get any and you have to tell the DVLA but it doesn't necessarily mean that you can't drive. I haven't driven for 3 years as I'm too frightened I'll cause an accident but I want to drive so I need to get my self confidence back as I've lost my independence. I recently lost my job as my mobility is worse and I fall quite a bit so I took early retirement but I'm looking for something working from home.

Try not to worry and contact Ataxia UK, they're great and will send you a lot of information on it.

Good luck, hopefully it will be negative but if it's not then at least you'll have an answer.

My email is [e-mail] if you want to chat or if I can help. Take care xxxx

[molgin in reply to bevvick1964]

Thank you for telling your stories, and all the advice and supprt, my GP says I have to wait til my mum's results are back until they agree to test me, so I must wait until the new year before I'm referred for testing. How old were you when you started showing symptoms if you don't mind me asking? I know I shouldn't speculate on symptoms I've experienced until I've been tested but its hard not too! They may be something else entirely but I've been experiencing vertigo and hip pain since I was about 39. That seems quite young?

[Cazlyo65 in reply to molgin]

Confirmed symptoms started abruptly at 46 when I woke up one morning rolled over in bed and felt the earth move. I was initially diagnosed with BPPV. Now in hindsight I can go back a few years previously when my eyes had a mind of their own and ended up having bilateral squint surgery x

[bevvick1964]

Hi

I was 45 and am now 51. I hadn't had any issues or symptoms of any kind at all apart from having Vertigo a few years before I after flying home from Minorca but that's all.

They reckon the symptoms usually start mid 40's so mine were about right.

Try not to worry or you'll end up getting depressed and you don't want that trust me.

Take care xx

[Cazlyo65]

Hi Molgin, I think you should ask to be referred to a neuro geneticist. I saw one last week after 4 years of balance & eye issues, hearing loss and co-ordination problems with multiple falls. I have been passed from pillar to post but thankfully my new ENT last year linked my hemiplegic migraines with possible cacna1 gene. He referred me to eye specialist who confirmed diverted association, gaze evoked nystagmus and thinning retinas. His referral to a neuro was a non starter as the neuro didn't even perform neuro examinations and told me it was all in my mind and suggested I read a site for functional neuro symptoms. Thankfully my GP who knows me best totally disagreed with him and he referred me to the neuro genetics. They have confirmed I have SCA but am waiting on blood results with the type. He is convinced it will come back as SCA6. Incidentally my dad had hemeplegic migraine, so do I and both my daughters 27 & 33. As this is a fresh diagnosis the main thing I'm struggling with is there is a high chance I've inflicted this on my daughters and potentially my two lovely grandchildren so on short term Diazapem while I absorb and adjust. I wish you luck x