Newly diagnosed SCA

Hi everyone - my sister has recently being diagnosed with Spinocerebellar Ataxia. It's taken nearly 25yrs to get to this stage and we are now very apprehensive about the outcome for her after reading all the available information. She is 46 and I'm 48 but at the moment we are unsure as to the heredity factor. I have no symptoms but we'd like to know as her daughter is currently pregnant. It's all very new at the moment and hard to take in, especially for my sister. I'm hoping that you guys will offer assistance as time progresses.

Many thanks for listening!

9 Replies

  • Hi😊 It'll come as no surprise that many of us here have travelled the same long road😏

    Recently, new drugs that target the abnormal genes themselves or the products of these genes have been developed. For Ataxias where the the sequence of the normal gene is known, it is possible to make a strand of DNA or RNA (Anti-sense oligonucleotides, ASO) that block the abnormal genetic instruction. Trials are currently underway to evaluate the safety and efficacy of these drugs.

    At the moment, Preimplantation genetic diagnosis (PGD) is a newer reproductive technology that allows couples to avoid the risk of a genetic disease. Basically, IVF. The resulting embryos can be tested for familial ataxia and only unaffected embryos are used for the pregnancy. Couples interested in PGD should consult with a centre who performs this testing to get the most accurate information about risks, benefits and limitations.

    The above is an extract from 'What is Ataxia' by the University of Minnesota.

    Prenatel testing can be done during pregnancy but the specific type of ataxia in the family must have already been identified by diagnostic tests. This testing can be done during the first, or second trimester of a pregnancy and may involve some risk of miscarriage. This type of testing is very complicated to perform, and is typically done in a high-risk pregnancy clinic. It's best to consult with such a clinic prior to pregnancy, or very early in the pregnancy.

    So, until your sister is actually diagnosed with a specific type...🤔

    I have a daughter who wants to start a family, I know my type of ataxia and it could be passed on, so I empathise. 🙂xBeryl

  • It is a HUGE shock for us all and we are all very different. My husband and I probably took about a year to come to terms with knowing and lots of crying. I am so sorry and many of us have been there and understand everything you are feeling, there is no way through it but it gets easier sometimes. Bit like someone dying??

    We all find a way in the end to cope though. I am not comfortable talking (I cry to relieve my tension) but my husband found it extremely helpful and we found by luck through our GP an excellent consultant neurophycologist. He really helped him because it is hard for your carer and family too.

    Our daughter has not been tested but wants to start a family. If she has inherited my gene they are thinking of trying IVF. Obviously it is too late for this baby and it is her choice how she deals with it but I will tell you what my GP told me. I really wanted my babies tested there and then but she explained that it would not effect them till later life and it was their choice as adults. Because being told is so so hard it is better growing up knowing they might be wobbly like Mummy would be and my Dad who lived next-door (I was his carer). It is so hard but the earlier you tell little people the easier for you too. They do not always remember stuff so talking if they want to is good.

    It is very early days but there are lots of possibilities of treatment on the horizon. Personally I would take trehalose just in case.

    Time will help you all getting used to the news and you have to try to remind yourself that at least everyone is still here and we all get something in the end. So sorry and good luck x

  • The bad news is SCA does not skip a generation. I would not want to tell anyone they need to get tested for SCA. Waiting until adulthood before that decision is made by the person themselves.

  • Yes I understand fully and it an unfortunate decision that parents with ataxia sometimes have to make. I really do not know what the right way is but it is what we did.

    Good luck anyway

  • Neither of our parents have it and I'm not showing any symptoms, just my sister. Hers started when she was in her early 20s, we are both now in our late 40s. Her daughter is showing no symptoms (she is 22) ... I guess it's just a waiting game (although not a very fun one to play).

  • I'm linked with a Recessive form, neither of my parents had ataxia but unfortunately they both carried the mutant gene. So, in this case it is genetic, although if my husband doesn't have the gene, our children will be unaffected themselves but may be carriers because of me. 😏xB

    BTW, this morning I read on another Ataxia Support Group about someone who underwent PGD testing, and now has a baby completely free of the gene🙂

  • Have you any brothers or sisters who are affected?

  • I have a brother, he's younger (62) and so far shows no symptoms🙂xB

    But, he could be a carrier

  • Thanks B, that's reassuring to me but may sound a bit callous on my behalf. I'm sure I'll have lots more questions but you've all been great on here so far. Thank you all 😦

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