Genetic testing and family planning

Bit depressing but very interesting to know what you think as ataxia’s and carers. Last night’s tv programme on Downs Syndrome got me thinking. I am confused though. Way back when I was pregnant my husband and I chose not to be tested for Downs. Close friends do have a daughter with Downs Syndrome and she is gorgeous but severe cases are hard work for the whole family. Scary that Iceland have all new foetuses with Downs terminated!

Part of me thinks we all have a right to be here and you have to die of something. Also IF our families had known about ataxia and chosen not to have us none of us would be here. Personally though as soon as my Dad was tested and they offered testing to me and my sisters I grabbed at it because I had 2 small children. When I got a positive result I decided I did not want to risk any more of my babies catching it off me and so I was sterilised. I am glad we did not know earlier. Since then my grown-up son has tested negative and I cannot describe the relief of knowing my baby is clear. My daughter has not chosen to be tested yet. It is so hard though and she has reacted badly to her brother’s testing and growing up knowing you have a 50% chance of having the faulty gene is so difficult. This is when I think safe embryos are good but are we selecting who to have in our culture?

Sorry the topic is so heavy and I think like all things I will get a very mixed response but it will be interesting.

13 Replies

  • Yes, this is an interesting topic but with the advances in research it is possible that ataxia may not be passed down the line.

    I have hereditary cerebellar ataxia but the gene is still unknown.

    When I went to see Professor Wood in London he explained that if the gene could be found then future generations could be spared passing ataxia on because IVF can be used.

    For this reason I am still taking part in research although am finding it very tiring travelling to my appointments.

  • Thank you for the reply. Good luck with finding your ataxia.

    Just so I am on their books and in case they discover any treatments I go to London most years for over 10 years now. My husband and I both find it very tiring though. I see Dr Giunti.

    If IVF was available way back when we had kids it would have been so good : )

  • I have grown up children and grandchildren, so am hoping that it will help them when the time comes.

    I actually go to Oxford now but went to London initially to get a diagnosis. I would not want to make that journey now .

    Best wishes and hope you keep well.

  • Dear Litty, I have two grown children and three grandchildren and hope and pray that they don't get ataxia. My children are not yet at the age of my diagnosis and my grandchildren are still very young. I have no idea why I have this, as no one in my family, as far back as we know, has/had ataxia except me. Although I've had genetic testing, as, a cause has not been found yet, although my neurologist thinks it's hereditary. You brought up some interesting points in you question, as I'm always open to both sides of a discussion! My best to you..., ;o)

  • Thank you and good to hear your story.

    It is all so hard and testing brings up a load of difficulties all of its own! I have been on both sides so I know from experience.

    Good luck : )

  • I had a nephew born on 8th August with Downs....his twin does not have it. My sister knew at 14 weeks that one or both boys had 95% chance of Downs but I don't think a termination ever crossed her mind. So far 'little Joe' is doing amazingly well with very few complications and he is an absolute joy.... I had a friend a few months back terminate a perfectly healthy baby though as she was 'freaked out' by the pregnancy.......I guess it is always a very personal choice. My baby was high risk of Downs and we had the cvs test done....largely because the condolences offered to us by hospital staff made it feel there was no option....he did not have Downs but I worry that the attitude of doom we had been subjected to would have made a termination feel compulsory! For me now, who so desperately wants a second child but is battling with whether it would be right to now we know my husband has hereditary Ataxia......but then as Litty says we all are born to die of something and I have lost a good friend at 44 to cancer and a cousin at 14 to suicide this year......I just think too much knowledge is sometimes a bad thing! X PS Litty I am so pleased to hear your son got the all clear.....what a weight lifted for him...and you....

  • Thanks for the reply.

    Lovely to hear about the twins. Hope Joe is still doing well.

    Sorry cannot help deciding but you are so right - Knowledge can be a bad thing. So much easier before.

    Because I had the opposite result testing I still cannot quite believe that Harvey is clear! So happy though!!

    Good luck though : )

  • If it was FA I'd want to know. My ten year old daughter is being tested at the moment and I can think of nothing worse than the prognosis of FA.

    Downs kids are happy and loving and don't get shut down bit by bit.

    It's different if you're affected as an adult and are just a bit wobbly with a general ataxia.

  • Thank you and I really hope your daughter's test is clear.

    Downs can be really hard on the family depending on th severity of the case too.

    I really do not want to get into an argument with you about ataxia and I realise having your children suffer from FA and all its complications is incredibly hard. But you need to appreciate that CA is hard.

    You said and I shall quote you ‘It's different if you're affected as an adult and are just a bit wobbly with a general ataxia’. Cereballar ataxias vary enormously as to when they start and how many repeats your families faulty gene has.

    I can only speak from my own experience. I have SCA1 which I inherited from my Dad. I was very close to him and he brought my sisters up after my Mum left us when I was 11. I was my Dad’s carer and we lived next door. My 2 children have grown-up living with the knowledge that they have a 50% chance of inheriting my gene. They spent their childhood watching their Granddad go downhill and in the end not be able to walk. They have spent the last 10 years watching their Mum get progressively worse (I have a walker and wheelchair). My adult daughter is my joint carer with my husband. So there has been very few years that someone has not had ataxia in our family. They may decide on testing and as you know that is really hard for everyone.

    My Dad died horribly and spent his last 10 days in intensive care after a routine operation went wrong. His throat muscles were weakened by SCA1 and he aspirated twice in the recovery room after the operation had been a success.

    I am sorry my reply is so long and blunt but what you said hurt. All ataxias are very cruel.

  • I'm sorry and please forgive me. I'm new to all of this. I didn't mean to dismiss CA. I guess FA and CA end up the same way? Is it just a matter of when it happens in your life? I didn't realise you lose the ability to do everything like FA. I thought you just might become unstable in your walking.

    I was confusing a general adult ataxia, like that which might occur after a brain trauma or similar with what you were talking about. Which doesn't make sense because you were talking about genetic testing. Sorry. I don't know much about CA so perhaps I was wrong to answer your question as that's the ataxia you obviously meant.

    I came to this site looking for people who are going through similar things to us, I really didn't mean to offend or belittle anyone.

    We had bad news today as Vit E deficiency was ruled out so that only leaves one thing. My daughter is ten and we are thinking of bucket lists and euthanasia.

    Sorry I wasn't helpful.

  • I am so sorry too. The trouble is when our babies (how ever big they get they are always be that) are in trouble we over react! Mummies are supposed to make things better! So so sorry about your news too… really not fair : (

    Unfortunately you got my instant reaction. We have been away and I was catching-up on my emails. I have had more time and we are sadly all in a similar boat! It took us about a year or so to finally accept back in 1995 that I had tested for SCA1 and would get it. So I have experienced both answers.

    It all takes time and we have to try and make the best of things

    Good luck X

  • You did take the right action way back, it would have taken so much courage.

    I don't really know enough about Downs Syndrome to comment.

    My daughter has not had genetic testing either, well it is her body. Last week she was home for her holiday's, conversation went like this...

    So we were sitting out on my back patio, pretty thrilled to see each other, checking out one of the most beautiful sunsets ever.

    "Mum, I've got a boyfriend"

    "How old is he?"

    age given.

    "That's alright"

    massive pregnant pause

    "Mum, did you know (about your Ataxia), when you had me?" "I won't hate you, I just need to know. "

    "No". "I want you to know this, I always thought something in me was 'off'". "I was extensively medically tested, that is the only way I know it's genetic". "You must get tested before you have children."

    "Why?" ""There will be a cure, one day."

    "Well, 'one day' isn't here. Now that we know what we do, we have a responsibility, an obligation even, to not pass this on".

    Litty, that's just how I feel.

  • Thank you and good to hear your story.

    Knowledge is so hard.

    My children have both recently found partners so we are facing similar conversations in the near future.

    Do they know what sort of ataxia you have and if it is inherited? Hopefully it stops with you? : )

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