Can anyone please help me?

[vix86]

My mum was diagnosed last yr with SCA17, after 6yrs previously Mistakingly diagnosed with MSA. We received diagnosis through a letter! And a brief mention from a gp who admitted knowing nothing about it. I have researched what I can, and I am terrified! Mum is my rock, the strongest most stubborn wonderful woman and friend and is none the wiser of what lies ahead she struggles through convinced that this time next yr she will walk again! My family are unaware of the seriousness also. I'm afraid to say anything. What do I do. Because watching her struggle, her wounds from falling, the frustration to just pick up a cup is killing me. Some one please help us

[cclive35]

Hiya, it is scary not knowing the future. Stay in touch ill try to help. You can email me, [e-mail]

[vix86 in reply to cclive35]

Cclive 35, thankyou for your reply I am currently sending you an email and am very grateful for your time.

[Benedict]

I also have been diagnosed with SCA17 at the forth attempt over many years so it is not easy for the medical profession to diagnose! I am told it is extremely rare but unfortunately there doesn't appear too be any cure and certainly I have not been subscribed any medication but also because it is so rare there has not been enough research. Sorry to be the bearer of such news. All I can say is for your Mum to stay as fit as possible for as long as possible and for her to remain as positive as she is for as long as possible. I know this reply will not bring you much comfort and relief but try to look at things from her point of view. good luck.

[vix86 in reply to Benedict]

Benedict, thank you for your reply, any acknowledgement and understanding is a massive comfort in itself so I appreciate it. I am sorry for your situation and wish u much luck also

[Benedict in reply to Benedict]

I have had the same diagnosis and a number of MRrI scans over 5 years so I don't, quite to know what to believe other than I am receiving the best medical advice available and that,SCA17 is rare and there is no cure. Sorry for the blunt newsk

[Benedict in reply to Benedict]

I have had the same diagnosis and a number of MRrI scans over 5 years so I don't, quite to know what to believe other than I am receiving the best medical advice available and that,SCA17 is rare and there is no cure. Sorry for the blunt newsk

[Benedict in reply to Benedict]

I have had the same diagnosis and a number of MRrI scans over 5 years so I don't, quite to know what to believe other than I am receiving the best medical advice available and that,SCA17 is rare and there is no cure. Sorry for the blunt newsk

[wobblybee]

Hi vix86!

To receive a diagnosis like that in a letter seems very callous, it's bad

enough when it's face to face. As with all Ataxias, she should try to

stay as active as possible physically and mentally, within her own

capabilities. But also try to control stress, a lot of us need help with

this from a GP. Getting overtired makes symptoms harder to deal

with, so she needs regular rest.

A GP can refer to Neurophysios and other specialist help, and also

to Ataxia Centres.

It's not uncommon to hear of a diagnosis been given and then finding

a person has been left to their own devices to find out about the

condition.

Often it's just not possible to predict to what degree symptoms will

progress, all we can do is deal with them as best we can and make

sure we get access to the help and support that's available.

Your Mum would have seen a Neurologist, and possibly met a specialist

Ataxia Nurse. If so, the nurse would be able to advise her how to cope

with symptoms.

Not many GPs know anything about Ataxia, this is a fact. I gave my GP

the handbook that came from AtaxiaUK.

I know you'll help and support your Mum, I'm sure she loves you very much.

Love to you both xBeryl

[grumpygranny]

Don't be scared! You and your Mum are obviously close. Maybe just now time to start to tip the balance a little bit - and be a bit more bossy with her !! [Like I am going to be with you now!!] :-

Firstly get an appointment via GP with a Neurologist. He/She will talk you both through the diagnosis, and symptoms and treatment options etc of SCA17. Depending on where you live, there may be an Ataxia Clinic within travelling distance. You can get a Red Cross voluntary driver for medical appointments. You pay few pence per mile for their petrol. Get in touch with: Adult Social Care (Social Services ) Tell them you are Mom's main carer - ask advice re aids and adaptations (e.g. special cup / kettle etc): -Phone District Nurse; (is there a nurse at your GP Surgery? They are sometimes more help than the GP!) Ask for what you want, and for what Mom needs. Including Benefit support.

Sorry to be bossy - but I do feel for you! Where do you live? Keep in touch. xx

[grumpygranny]

Help please ?! My friend (in S.Africa) has Cerebral Ataxia. She lives in a nursing home. Her sight is going (corneas) and her hands are very very shaky. She would love to have a Digital radio / CD plaher - which has controls which she can cope with sight-wise and shaky-wise. Anyone any ideas for which make / brand would be good please\/

[vix86 in reply to grumpygranny]

Hi Granny,

Have a look at the rnib website as they have a shop section with some helpful things including a radio I'm sure. My grandad is partially blind with macular degeneration so I often check the website for new info and products.

Hope this helps

Tors

[grumpygranny in reply to vix86]

Thankyou for that vix

[vix86]

Beryl and granny thank you for taking the time to reply.we were under a neurologist when they diagnosed mum with MSA also a social worker who put some grab rails around the house and shortly after closed the case. We have heard nothing further from a neurologist. It was a letter stating a 'discovery with a particular gene called SCA17' that notified us of this, however I knew that msa wasn't right. The letter asked us to attend an appt which we did with high hopes! Only to be told she will not walk again and they are doing further tests with her blood to find out why she has it as hwe parents show no signs. 'We will send you an appointment in a year' thanks bye basically. I was also told not to have children until tested at which time I have a 6 year old and a 10month old!! She also has rheumatoid arthritis. Mum is a strong stubborn woman and takes each day as it comes, she will accept no help and as I said thinks she will be walking next year. She has no idea of what is to come and I don't know whether I should talk to her about it in order to 'prepare' her, I don't want it to get to the stage where she cannot tell me how she feels and what she wants, I feel we need a plan now but I'm knotted and scared of breaking her down. Close we are, best friends. Every day together.

I'm so sorry to ramble on, hate to bring such low mood, just in turmoil andknew there would be no one could possibly understand unless in a similar situation.

Thank you all so much. Its a comfort to know there is support xxx

[vix86 in reply to vix86]

I'm from Berkshire UK

[robo1 in reply to vix86]

Where abouts in Berkshire? The Thames Valley Branch meet near Maidenhead and would be very pleased to see you and your mum. Bob

[vix86 in reply to robo1]

I live in Tilehurst Reading, sorry to be ignorant but what is the Thames Valley Branch?

Thanks

Tors

[robo1 in reply to robo1]

The Thames Valley Branch is a branch of Ataxia UK and meet every other month at the SportsAble building on the Braywick sports ground, just south of Maidenhead on the A308. Our next meeting is on the 10th March from 1.30 PM until abaout 4.30. We normally have about 20 members turn up, either with ataxia or their partners/carers. Some are newly diagnosed and some have had ataxia for over 20 years so, between us, we are familiar with most of the problems that you may face. We would be very pleased to meet both of you. Bob

[robo1 in reply to robo1]

Sorry, that should read Saturday 8th March for our next meeting. Bob

[grumpygranny in reply to vix86]

I'm so sorry vix. If Mum won't accept help you mustn't beat yourself up about it. But it might help you feel better if you found out about what is available for the future. Take care of yourself

[vix86 in reply to grumpygranny]

Thankyou so much. I will find out as much as I can and take it from there. I wish you the very best x

[february]

Dear Vix86, I live in the States (State of Michigan) and was diagnosed with cerebellar ataxia eleven years ago (not the kind your mom has), although had small symptoms starting a few years before diagnosis. The cause of mine is "unknown"at this time, as no one in my family, as far back as we know, has/had ataxia, except me. Anyway, things are somewhat different here, than in your country. I understand you have wonderful ataxia centers in the UK, so try to make use of one, if you're not already! Your mom seems to have a positive attitude about her ataxia, as she is stubborn and says she'll be walking again in a year. Therefore, be as supportive as possible. Also, if she hasn't had any physiotherapy (we call it physical therapy as a rule here) that may be helpful. A cup holder attached to her wheelchair may be helpful, as well as a fold-down tray, for carrying things. Disabled health supply sites are very helpful...,look online. An occupational therapist (don't know if they are called something different in the UK) can be helpful with easier ways to do things (I would think a physio would know about this?). Try to talk with your mom in steps (a bit at a time), to ease her into all the changes, as apposed to overwhelming her all at once (ignorance CAN BE truly bliss...,ha!). And by all means, talk with your family about all this, so they can be knowledgeable also, and so you don't have to take this all on yourself. Hopefully, that will give you some well-deserved piece of mind, having family you can talk with, as I can tell how much you love your mom, and would do anything to help her! Online, there are exercises one can do, even in a wheelchair (Google wheelchair exercises). This will help your mom keep her muscles as strong as possible, which is very important with ataxia! Above all, try not to scared (I know this is difficult), as no one, ataxia or not, knows what the future holds, and ataxia progression varies between individuals so much! Ataxia is extremely frustrating and challenging! Just try to be as proactive as possible, as well as take all one day at a time, even though that's hard too! And always remember, you and your mom are not alone in your journey! (So sorry to go on and on, just trying to be helpful...,ha!) Please write with your concerns anytime, as we understand, and are here to help the best we can! ;o)

[vix86 in reply to february]

February thankyou for your time, I have taken on board what you have said and suggested and will certainly rethink my next move with mum. I'm sorry to hear of your situation and wish you all the best. Xx

[HarryB Administrator]

Hi vix86

Thank you for your post.

I am so sorry to hear about your Mum's diagnosis. On one hand it is good that she has now been correctly diagnosed but I know that doesn't make the actual diagnosis any easier to digest.

Are you a friend of Ataxia UK? Membership is free and there are a number of benefits, in particular receiving a quarterly magazine 'The Ataxian' which talks about things that are happening in the world of ataxia including a Research update. Ataxia UK's helpline number is 0845 644 0606 or you could email at [e-mail].

Ataxia UK also has a network of Branches and Support Groups throughout the UK-the Thames Valley Branch was mentioned above-which give people affected by ataxia an opportunity to share experiences and generally support each other. I would recommend trying to go to one of these. You could go, it doesn't have to be your Mum. They are open to anybody and everybody! You could find more about the Thames Valley Branch through phoning Ataxia UK who would either give you information directly or point you in the direction of the best person to help.

It was mentioned above that your Mum could be referred to an Ataxia Specialist Centre where the neurologists specialise in ataxia. There are three in the UK and are in Newcastle, Sheffield and London. I know you are already under a neurologist but it might be of benefit for you and your Mum to be seen by a doctor who has good knowledge about SCA17, particularly with it being so rare. If you think you would like to do this your Mum's GP or neurologist could refer her. They may be reluctant to do so and if this is the case, speak to Ataxia UK about it.

It is imperative that before you are tested you have genetic counselling. I hope that has been offered to you but if it hasn't you must speak to your GP about it.

I hope all off this is some help to you.

Best Wishes

Harriet