Prenatel testing sca 6

[lola261184]

Would you get prenatel testing? Would it change anything ? Im at a loss of what to do. Not get it or get the test done or try kayromapping which is expensive and might not work first time around

[Litty]

Hello

This is a hard one and VERY individual.

I do not 100% know but this is what I think:

Pre-implantation genetic diagnosis is a technique that is used along with in vitro fertilization, IVF and allows testing of embryos for certain characteristics such as their chromosomal makeup and also testing for genetic diseases that are passed on through families.

Good luck and please let me know what you do. My daughter is engaged and I have SCA1, and she is thinking of beng tested x

[majajefferies]

so, what did you end up doing?

[lola261184 in reply to majajefferies]

We just had our baby naturally and prays that hes lucky that he doesnt have it . Onset is around 60 in my partners family it still worries me like crazy

[majajefferies]

Congratulations! What a wonderful news!He will have a cure by then for sure!

Have you thought about genetic testing if you are worried? It might relieve your concerns

[lola261184 in reply to majajefferies]

Hi thank you we cant get the boys tested until they are 18. I pray every day and im consumed by worry but i love them so much i just hope for treatment or a cure .

[majajefferies]

Why? Who came up with that rule? Children are frequently tested genetically. Our son was tested at 16.

[lola261184 in reply to majajefferies]

We are from the uk so they dont like to test before 18 as they like it to be there choice

[majajefferies]

We live in Essex and are under UCL, NHNN team. Who told you that nonsense? Have you spoken to prof Giunti? Sorry, I don't know where you live, you might not be under the specialist Ataxia centre in London, I don't know if you are under them, but there are other centres around the UK. So, testing for parents with inherited genetic illnesses is highly advisable, not mandatory, but testing your children is entirely up to you. If you have any concerns whatsoever you have a right to a referral (from your gp to tertiary services) to a geneticists to discuss your options and have any of your questions/concerns answered. We did through GOSH as they diagnosed ataxia in our son and it was an actual genetic advisory service they offer.

[lola261184 in reply to majajefferies]

Is it hereditary in your family which type

[majajefferies]

DRPLA, it is a rare form of SCA , my husband and son are affected. Luckily, we adopted our other two kids, so they don't have it.It is a nasty illness when they are young. DRPLA presents as late age onset, then mid age, and then juvenile. In children it is really aggressive.

But the drugs for it (ISO, made on Prof. Tabrizi's drugs for Huntington's, which, as I'm sure you know, is very similar to SCAs).

So, SCA's are inherited illnesses but the chances are only 50% down each generation. The big question is whether your partner wants to get tested and what his results are. If he hasn't inherited it you are home safe. If he has you still have 50% chance that your children individually haven't inherited it from him.

I can't tell you what you should do, genetic testing is an individual's choice, but if you are concerned the first step is to get him tested. So, GP's referral to a neurologist specialising in ataxias where you live (there is a list of ataxia specialists on Ataxia UK), discuss your family's concerns and request a referral to a geneticist to discuss how testing would affect you before you make a decision. They literally made us see a geneticist when Ryan was diagnosed.

The other road you can take is just leaving it. But if you do leave it you won't be able to be part of drug trials straight away which I think is crucial in eradicating ataxias.

Personally, I wanted to know. My husband's brother chose not to have the test, he is a father of four and grandfather to 3. I don't understand why (especially seeing how ill Ryan is with it, he went from attending a mainstream secondary to being non-verbal and wheelchair bound in 4 years). To each it's own. I am sure he has his reasons and I try never to judge. But if he doesn't have it none of his kids can and they could live without the worry.

[lola261184]

My partner unfortunately does have genes no symptoms. We didnt know anything about it til after our eldest was born x family memeber who have had it seem to be around 60 his auntie tested negative and his uncle no sympfoms yet at 60 and not tested

[lola261184]

Do you habe prodessor gunti email