Hi
My dad was recently diagnosed with SCA2 at 51yrs old and he has told me that both me and my sister have a 50% chance of having this as well. Because I want to start a family soon I am going go and speak with his doctor about being tested... im nervous as hell and was just curious if any one else was in a similar position or had been.
Thanks in advance... and im glad I found this forum 
x
Hi, I really felt like I had to reply to your post as I am in a fairly similar position to you! My mum was recently diagnosed with sca2 in her late 50s earlier this year and I know about the difficult subject of whether or not to be tested myself.
I have so far decided not to go down that route yet, but if like yourself I was planning to start a family soon I would be more inclined to get the test done not for me but for my future child as I have been informed that the symptoms can get worse as SCAs go down the generations.
How has your dad been coping and what have been his symptoms? I hope you and your family are getting the right kind of support
Hi. you will see a councillor before if you decide to be tested.My son and one daughter and one grandchild have EA2 but her other child has not .So it is bit of a two edged sword.Sorry can'be more helpful but l know it is a hard choice to make having been tested myself.
Hi! Tonim I've never ever replied to anyone on this site (basically because I've had a really bad attitude to my diagnosis) this site has been a absolute lifeline for knowledge. I too just needed to respond to you.
I am 46, I was diagnosed last year. My Ataxia was confirmed as inherited through a blood test and MRI. I live in Australia so it is a deffinant ""oddity" here. I have been this way since birth. My life has been so traumatic - I would not wish this on anyone. I have a daughter, - who would not be here today, serious, if I "knew then what I know now". I have told her - if you are going to have children, get tested, both of you and if you choose to go ahead, get Private Health Insurance. The injuries I sustained were just horrendous, I was advised "to tough it out". Ouch
If you choose to roll the dice, your decision - maybe there will be a cure in the future. ..
I have two other siblings, one definately does not have it, I suspect the other one does. Just be careful, my pregnancy was horrendous - go and get tested, take it from there. You need to know this, I was a "World Class Swimmer", now I basically sit on my but, for safety, mine. I know this is a dark response - make sure you talk to that counsellor, about the response of the future children. Just find out for yourself YOU need to know, for you. xo Julie.
Personally I don't want to know I don't want to have the thought of, if I do have it, 'will I get worse today... What symptom will hit me today' over my head for the next 75yrs but I. Can't risk having a baby and like every one says if I do have it putting them through it. It's a big decision to make and since I found out about dad I have tossed and turned, got upset been ok and then got upset again about it.
He had a bad accident at work a couple of years ago and it's only really since then I have noticed his balance going which I always assumed was down to his accident, evidently this was not the case. He slurs his words again because of where we are from I thought it was an accent thing so to me he has always been 'dad' is never seen any difference which makes me think he has had some symptoms longer than others.
I have done so much googling over he last week about SCA how it's passed on, why it occurs (probably learnt more about genes than I ever did in biology at school) but I feel for me knowing a bit more about it really helped. And it's helping me come to terms with the 'what if'
Then there is the 'ok so my great grandma had it, grandad had it, dad and uncle have it... And there is 50% chance me and my sister have it' I'm terrified of its not me it's her and I think i would much rather it be me... I again don't know how I would cope if my younger sister was told she did have it. My parents haven't told her yet based on the fact she is only 18 and she's not the most grown up 18 yr old... Not sure how she would take it.
Thanks for all your replies.
Hi Toni, I live in the US, but am on this site and the US, Living With Ataxia site as well, as I want to learn all I can about ataxia and be supportive to others dealing with it! I was diagnosed eleven years ago with Sporadic Cerebellar Ataxia (unknown cause/symptoms 24/7). My situation is some what different then yours, as I have no family history of this. I have two grown children and three lovely grandchildren that I am concerned about (I had my first very small symptoms starting at age 43, but was not diagnosed until I was 49-I'm 61 years young now). Anyway, my two children are in their early 30's, and I hope and pray they, or my young grandchildren, will never have to deal with ataxia. MIne has progressed and will continue to do so. I had general recessive and dominent genetic testing, which was negative. I may eventually have recessive genetic "genome" testing, as my neuro suspects I may have an extremely rare type of recessive ataxia that can only be found this way, but that's a whole different story...,ha! It's a personal decision to be tested, but if it will give you peace of mind, I'd say it's worth it! Of course, this is just my opinion! My best to you..., ;o)
Thank you any advise is greatly appreciated its something I had never heard of and having done some research it's amazing the different types and symptoms quite overwhelming actually.
I think personally I am going to be tested just so I know and I can deal with it.
Thanks again x
Hi Toni I have Spinal Cerebellar Ataxia unknown I found out when I was 50 when it started affecting more of my body not just hand tremors. My mom was diagnosed with Frederic's Ataxia but she couldn't have had it because I don't I was tested for it. I would definitely be tested for it. If they have studies that will help symptoms that occur u can be helped. U r not in the dark on what to or not to expect. knowledge is power. Just because a doctor say's this will happen doesn't mean it will. I have a friend that he and his sister found out around the same time that they had SCA3 he fought it she didn't she was in a wheelchair in less than three years and is now deceased. Ten years later he is still walking and jogging with a jogging stroller. He's amazing he recently got a Great Dane service dog. I am still getting genetic testing done to find out which one I have. I will be so happy when they do find out.
Good luck don't be afraid accept it and know your not alone.
Donna
Donna, Thanks for the comments. Its just been so long since the referral it has sent my head into over drive. I am hopeful that at least after the consultation I may have a bit of a better idea of what SCA2 is all about. My dad has been brilliant he is still working and getting on day to do. he is a builder so as its an active job I think this has helped, I work in an office environment and am sat down for a lot of the time.... I ran a 5k in May for Ataxia its something I want to do a lot more of whether I have it or not.
Hopefully after next week I will have some more answers.
Its sad to hear about your friends sister but it does prove being positive has a huge impact!
Thanks again
Toni
I also have SCA 2. I was diagnosed a few years ago and went into shock. SCA 2 is hereditary and therefore for your Dad to have it, he must have inherited it from one of his parents. I have three children and after the diagnosis told them that they all had a 50% chance of having inherited the condition. My mother was the person I inherited my ataxia from and she died from cancer in her thirties without showing any signs of having Ataxia. I can appreciate how terrified you must be, none of my children are yet in the position that they want to start a family and so they haven't had to take the test. The test for SCA 2 is just a blood test. Right now, you can only think about having the condition, but you might not have it. My sister got checked after my diagnosis and she doesn't have it, hopefully you haven't either. A test will let you know either way and if you do have it, I believe that they can check your eggs for the faulty gene so that you can make sure you aren't passing the SCA 2 on. I won't tell you not to worry because you will until the test is done. Good luck
Thank you. It's nice to speak to some one else in my dads position they haven't told my sister yet and I'm not sure they will till I find out. I'm seeing my GP for referral on Thursday but I have been told it can take up to 18weeks for me to be seen... Not that they like dragging it out! Just want to know at the end of the day it had quite a few symptoms and I just want clarification on them I have been having tests as they initially thought it was MS As mum has that it's been confirmed its not MS so now it's just a case of waiting... And of its not SCA then I'm not sure but I certainly won't be worrying about it!
My great gran had it and my grandad had it dads got it and his brother has it, my uncle is worse than my dad appears it's affecting him more.
Dad said his Dr has told him about the egg testing which is something (if) I will need to have done xx
It was a long time ago now but I have been through testing too. It is very hard and took me and my husband about a year to come to terms with the news (although not showing symptoms at the time, I have SCA1). It was back in 1995 and they had just discovered testing. My Dad who had SCA1 had just been diagnosed and they offered me and my sisters testing. I had a young family (2 children) at the time and wanted to know so I was tested at the West Midlands Regional Genetics laboratory. They do it at Ataxia Centres too now. My husband and I had months of counselling to see if we could cope with the result (which we needed).
Everyone is very different. My one sister thought we were dreadful finding out but later developed ataxia in her 40s. My other sister decided not to be tested at first and then had the test later, but had a nervous breakdown waiting. Luckily she was clear. At first I did find this difficult because she too had children and they were OK.
My kids are grown-ups now. Their view at the moment is there is nothing that they could do to change things and since our ataxia does not start till you are in your 40s, they want to get on with their lives. They could also die of any number of things before.
I did not want to have any more children and so was sterilised at the time. I think they offer testing of a foetus now (?) but this would be very difficult. Also none of us would be here if our parents had found out and chosen not to have us, so it is a very difficult decision. Also hopefully by the time our children grow-up they will have found a treatment.
Good luck whatever and hope this helps : )
Thanks Litty... All those thoughts have been going through my head and some days it's easier than others. It always been a worrier so not finding out isn't really an option for me once I know I can plan (I know you can't plan for everything) but being in control a tiny bit kinda helps. I'm going to the doctors this afternoon to start the process I'm 90% sure my doctor won't know what I'm talking about but hopefully they can point me in the direction of some one who can.
I am concerned about how the result will effect my relationship at the moment my partner is being supportive in his own way he doesn't want to talk about it just yet and keeps saying 'it'll be ok, we will cross that bridge' which I'm sure we will.
Thanks again xx
It is very normal to be scared most of the time. The counselling will help your partner a lot. Hopefully you are clear and you can get on with your lives but if you are positive, I found it really helped to know and plan. (We built a house and so we added wider doors, no steps, downstairs bedroom etc). Once you come to terms with it in a funny way you are stronger too and more determined. The very best of luck and hopefully you next post will be great news.
Some GPs are great but others need help. Just so you know there is a National testing NHS lot. Hopefully this link works
nhs.uk/Conditions/Genetics/...
Also all Ataxia Centres do testing : )
Sorry that was quite general. This is more specific
bwnft.nhs.uk/wmrgs/west-mid...
about where does it : )
I was tested as I was worried about family members having Ataxia,it was worth the long wait as the test take longer,good luck!!! Lorraine
honestly cannot remember as I had them done along time ago! but I do remember the results for the testing took a very long time to be given to me as I had to wait to see the nueroglist and that was a 6months appointment!!!! Lorraine
Hi I was diagnosed wi Fa at 21 when I was pregnant with my first child, me and my sister both have it my sister diagnosed at 12, my childrens dad is not a carrier for the condition so my children won't have it but will be carriers, hope u get positive results
Tests
Legs Shake Going Down Stairs
Blood tests negative - now what?
