Appointment date!

[ToniM]

After being referred to the genetics team in June I have finally been given a date for my first appt with them at Seacroft in Leeds, I'm terrified of what they are going to say or do and what should happen if the tests come back positive. Has any one been referred after a parent has has been diagnosed with Ataxia? Thanks xx

[paulacarter]

ToniM I can't give you any advice or feedback because I am awaiting an appointment. However I would like to follow your progress as my mother has severe Ataxia, hence my request for an appointment for me.

I wish you the very best and the strength to deal with whatever you have to face.

[ToniM in reply to paulacarter]

Hi Paulacarter, its been a nightmare I have been waiting over 18 weeks for the apt and whenever I call I was just told 'you have to wait the 18weeks' so stick with it. I haven't received the letter as of yet which im hoping may give some more as to what will happen. Il let you know what happens when I am there all I know so far is it will be a 45min apt. I am hoping that they do the blood test and tell me either way, I really don't want to have wait for another apt... not sure how I feel about find this out before Christmas but I need to know for me more than anything.

Thanks for the support.

Toni

[nigelrheath]

Hi Toni

there are two trhings to get from your visit.

1) do you have ataxia

2) What do they suggest you do about it

If the answer to 1) is yes, then come back here for support because there is a wealth of it available.

If the answer to 2) is manage the best you can then definitly come back here because there is a lot you can do personally to deal with this condition.

Either way keep in touch.

Nigel

[ToniM in reply to nigelrheath]

Hi Nigel, Thanks for your reply. Im nervous more than anything. I have really appreciated this group over the past few months since I found out about Dad although it hasn't bothered him (that he has shown) it has been driving me insane and the fact it has been so long its just making my expectation worse, I just want to know either way now.

Thanks again x

[february]

Dear ToniM, Yes, this must be a unsettling time for you! When I was diagnosed with Sporadic Cerebellar Ataxia (progressive, unknown cause, symptoms 24/7) eleven years ago, and I had never even heard the word "ataxia". Unlike you, no one in my family, as far back as we know, has/had ataxia, except me! I've had genetic testing for the known dominant and recessive ataxia's, which was negative. I'm hoping to have genetic "genome" testing, which is more specialized. Although there's no cure, it would give me some peace of mind to know why I have ataxia, if anything shows up! Remember, you're not alone in your journey! My best to you...,;o)

[ToniM in reply to february]

Hi February,

Thanks for getting in touch, I have only heard of it in the last few months I didn't know about it before and because my granddad did not tell my dad about it, it came as a shock to him as well. It must be strange if there is no known reason for it. hopefully they will be able to get some answers for you. I don't have any symptoms that I would attribute to SCA2 at this time, well I say that but after I googled it like anything I could make anything go with it if that makes sense.

I am hoping for some answers soon or be at least on the way to some answers.

Thanks again

Toni

[eileen200271]

Hi Toni and Paul, my father-in-law and my hubby have SCA6. Husband diagnosed 5 yrs ago now. We have 3 children, boy & 2 girls. Son wanted to know if he had the gene. Visited his GPS a year last August. Finally got his appt at the beg of January. He spoke to a Dr for about an hr about his reasons for being tested but because he was on antidepressants she would not do the test there and then. Patrick said he was depressed because he was convinced he had the gene as he felt he already had problems with his eyes. He had a further appt early March when they spoke again and she finally took his blood.

He was told it would be about 6 wks but it was early June and he still hadn't heard so he telephoned. The Dr told him the letter was in the post and would give no details. His letter arrived a week later. It was quite stark and to the point he is positive for SCA6 also.

He seems to be philosophical about it but has also said that if he hadn't seen his grandad and now his dad's symptoms he would have just put them down as isolated incidents.

Both my daughter s have two children but do not want to be tested. As a family we did not realize the ataxia was hereditary until my husband started with coordination problems.

So, am not sure if this helps you both, but if you have any particular questions please get in touch and will try and find out further info on the process. The one problem I have is that although I know about my son's diagnosis he is adamant that we keep it from his dad as he would be devastated. Not sure if this is right but it is not my decision to make.

Best wishes to you both on your journey. 💗💓

[ToniM in reply to eileen200271]

Thanks so much for your reply. My dad didn't know his dad and grandmother had it so it was only through tests he found out if I never knew I would just put him down to 'that's the way he is' but now I know I feel I have to find out. I have a sister who doesn't know as yet and I'm not sure when they will tell her she is only 18. I haven't told my dad I have got my apt through just yet and feel i don't (as bad as this sounds) want to have to deal with the guilt it puts on him when and if I find out if I have it. I don't know if she will do the blood test there and then it's all a bit vague tbh and I just want to know. It's bugging me now I like to plan and to know or at least try and know what's going to happen next. I read the letter they sent my dad to tell him and they are pretty harsh about it. I feel I have done enough research in the last few months to get my head round it whatever the outcome... For me it determines what happens when I want to have children which is something I will have to discuss with the dr

Thanks again xx

[eileen200271 in reply to ToniM]

Yes love, that's what our daughters said. If dad was diagnosed before the children arrived, they would be tested. But if they did it now they would be worried for the kids.

Our son hasn't got children. It is a devastating diagnosis but we may get hit by a bus tomorrow. I think we were 'lucky' in that Dave was 63 when he started querying his symptoms and it only took 8 wks to diagnose. But his deterioration has been swift. This may be because he was stable for so long. Keep in touch on the site and let me know what happens. Love Eileen x x

[SunnyVM in reply to eileen200271]

Hi Eileen and Toni,

I know this thread hasn't been active in the last few years so this may go unanswered.

I am new here and me and my partner are looking into start a family.

He has a history of Friedrich's ataxia on his side (Mum and auntie) and I am very anxious of whether this will be passed on.

Eileen - your message really struck a chord with me given your son's experience of wanting to know. As someone who has suffered with anxiety and depression in the past I can only imagine how painful the "not knowing" must've been for him. Which is why I am scared for us to start a family without any testing as I would struggle with the emotional pain it may cause our future children, and ourselves.

You say your daughters have children and have decided not to be tested. That's my partners thinking too, but I have seen the pain ataxia has caused his mum and him, and the great strain it has put on our relationship, so I can't understand why we would risk it. A bit like you Toni - given I know it's hereditary I feel I have to know to be able to plan accordingly.

My partner said when he was younger he was "tested for ataxia", and it was deemed he didn't have signs of it. But he said it wasn't a blood test, just neurological. So from what I gather, this means that he may not have had it at the time, but it could be dormant? And this doesn't rule him out from being a carrier? Only a DNA blood test would determine any of this?

He collapsed a few weeks ago out of the blue, I was there to catch his head as he fell to the floor but even after holding his head and knewing it wouldn't bang the floor, I was paranoid not to let his head touch the floor. Thankfully the paramedics said it was the pressure of him making himself throw up (he'd had a stomach ache but couldn't be sick - if you know what I mean) that caused the collapse. But I cannot begin to explain the feeling I had thinking that his mum was fine, then 10 years ago she had a fall, knocked her head and thats what triggered the dormant FA. If that's the fear I have now, I will definitely pass that fear and anxiety onto my child if we don't have the testing to find out. I will be the worst mother for it.

Eileen - you being aware of your son's diagnosis and keeping it from his dad must be hard. But I do understand why also. And that further confirms for me why I wouldn't want me child or partner to have to experience any of that guilt.

"If dad was diagnosed before the children arrived, they would be tested. But if they did it now they would be worried for the kids." - Hindsight is both a gift and a curse... so your daughters would've got tested before they had kids if they knew about their dads condition?

We have discussed genetic testing but I don't even know how either of us would handle the results. I've looked into prenatal testing - and there are options for that also. But I just don't know if I am being selfish, paranoid, or both.

Sunny x

[kareen in reply to eileen200271]

Hi Eileen,my mum has got type 6 and I found out two years ago that I have it also.im wondering if you could help me out...does your husband suffer from times where he feels very tired accompanied by..headache or head pressure,funny taste in the mouth,sore throat,getting hot then to cold,aches and pains..it's as if I am ill in some way like the flu or something..it happens maybe every 5 ... 6 weeks or so I need to go to bed when this happens as I feel so crap..I have been to my Drs and have had blood tests and everything..he's ran out of ideas..so when I see him today he told me to come on this site and try and get some sort of answers ,,just incas it has something to do with my spinocerebellar ataxia...this is really getting me down..I can't plan anything I feel like I have a fuzzy brain I can't concentrate.thank you.

[eileen200271 in reply to kareen]

Hello Kareen. Yes Dave has extreme fatigue. But he does not have some of the symptoms you describe. His sore throat is with coughing, always seems to have to clear his throat. It is a long time since he had the headaches, although my son has started with them about 18 months ago. Apparently they are common with SCA6 but not with other types. He has a lot of aches and pains in his hips and lower back that takes a lot of getting rid of if he doesn't continually keep up with the pain killers. In a morning he is sometimes quite "befuddled" but it wears off with a couple of hrs. He went to have his long and short-term memory checked and he did better than me, lol. So it must be because he doesn't listen to me, so he doesn't remember. Lol

The difficulty is that everyone has different symptoms, Dave's dad only seemed to have trouble with swallowing and balance/walking. Dave has problems with his eyes, as does our son. And the aches and pains, so am not sure what to suggest. Take each day as it comes and do as much as you can, when you can. Difficult at times, I know. Keep in touch, chik. 💜💜💙💙

[Loubie82]

Tonim I am also waiting for an appointment for the genetics clinic. I had a blood test done in july which they found a connection to type 6.

I have struggled with ataxia for the last 12 years and sm also the only one in the family with it. Its stressful waiting cause in my letter they said there could be implications for my family and having 2 children its quite stressful waitingxx

[ToniM in reply to Loubie82]

Hi loubie... I have heard a few people say they have been diagnosed with SCA6 I haven't found many yet with SCA2 I have done quiet a bit of research into most types to be honest. It's never a true impression of how it actually effects people though. It must of been hard for my dad to tell me and I'm assuming my grandad didn't tell him because at that point they had already had me if that makes sense. I just need to know now and it's the waiting that drives me insane. I'm hoping the blood tests results come back quick and I can just get on with life... My only other concern at that point is if it's 50/50 chance and I don't have it there is still the chance my sister will and her being 18 it's a lot to take in at that age so that's concerning me aswell. Il let you know how I get on. Hope you are well xx

[SunnyVM in reply to Loubie82]

HI Loubie,

I know this thread hasn't been active in the last few years so this may go unanswered.

I am new here and me and my partner are looking into start a family.

He has a history of Friedrich's ataxia on his side (Mum and auntie) and I am very anxious of whether this will be passed on.

My partner said when he was younger he was "tested for ataxia", and it was deemed he didn't have signs of it. But he said it wasn't a blood test, just neurological. So could this mean he could still have it dormant - or would the scan have picked up on that? And this doesn't rule him out from being a carrier then?

We have discussed genetic testing but I don't even know how I would handle any chance of it being passed on given what I have witnessed with his mum.

How did you find processing the results and what that meant for your kids future?

Any guidance is greatly appreciated.

Sunny x

[rach33]

Hi

Gosh your brave. My grandma had it and my antie and mum have SCA 2 , I'm really wanting a test but I'm scared of how I will handle it xxx any tips. Feel very scared and alone