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Pre conception genetic testing?

2 replies

CrazyDaisy2018 · 11/06/2018 10:46

Hello all. I am not sure if this is the right place to post this, so please feel free to redirect me as necessary.

I have NC’d for this. I also apologise for how long this is!

My DP and I would like to start a family but we are wondering whether there is any form of pre-conception genetic testing available to determine the likelihood of disabilities in a child.

I know this is a very emotive and sensitive subject so I’ll explain why I’m concerned.

I have a sister with profound disabilities. To be honest, I have no idea if these come from a chromosomal abnormality or if something happened during her birth.

I have tried to approach this subject with my DM but she has been very vague and changes the subject and it will become clearer why she avoids the subject as you read on.

My DSis’s problems didn’t really present themselves until she was around 18 months old when my parents realised she was no longer progressing. She’s basically had the temperament of an 18 month old ever since, just growing physically.

Now, don’t get me wrong, I love my sister dearly. She has a wicked sense of humour and you can see the mischief written all over her face when she’s about to do something naughty. She gives the best slobbery kisses and is blissfully happy where she’s now living.

I consider my DM to be one of the strongest women I know, but as my sister (and my parents) got older, the struggles of dealing with my DSis physically got them to the point of being unable to cope. It took years for social services to take them seriously and find her the residential home she now lives in, and honestly it brought my DM to a nervous breakdown and depression. She has since told me that she’d even planned her suicide and said that if she’d gone through with it no-one would ever have found her.

My most heart breaking memory was as a 17/18 year old hearing my mum sobbing from the other side of the house as she thought she couldn’t take any more. 😢

I am not as strong as my mum. If that could have brought her to the brink of suicide I cannot imagine being able to put myself or my DP through the same thing.

Hence my query about whether there is any form of testing to identify whether I (or even my DP) are carriers of something.

I know in reality I need to discuss this further with my DM, but as you have seen, this is obviously something that she finds difficult to talk about and would likely bring back all those feelings that almost brought her down completely.

Thank you if you’re still with me. It was a long post!

OP posts:
Cariadxx · 11/06/2018 13:59

Hi, in the UK there is pre implantation genetic testing available but I'm afraid it is only when looking for a specific condition known to run in your family. Without a diagnosis for your sister there's nothing the NHS could offer you.
There is in America I believe a company that will sequence your DNA and look at everything but I’ve no idea of the cost and it may bring up lots of things you didn't want to know.
If your sister is the only one in the family that is delayed then chances are it was a sporadic mutation/ event and won't be an issue for you

CrazyDaisy2018 · 11/06/2018 15:07

Thanks Cariadxx, I thought that could be the case (and seems logical). I will have to see if I can get my Mum on her own sometime and be honest with her. I would hope that she'd understand my desire to not go through the same as her. This would likely be their only grandchild too.

My sister is, as far as I know, the only family member that's ever had any problems, though both sides of the family are quite small.

As you say, it's possible (or even most likely) that it's either a freak combination of my parents genes, unlikely to re-occur, or there were some other factors involved.

OP posts:
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