Clinical genetics screening - has anyone been through it ?

[geneticsworry]

I had an appointment this morning with a psychiatrist to discuss long standing anxiety issues , that have significantly worsened recently .

The doctor said that given my other medical history (PCOS and other gynae problems) he thinks I probably have a genetic syndrome thats related to both the PCOS and quite possibly I’m autistic, and that’s why I struggle .

My younger sister is severely autistic , and I have a cousin who has multiple learning difficulties. She and sister are very, very similar in appearance, and both have had seizures at times . My dad shares the same facial features as did his mother, and some of her sisters .

I’m a bit thrown by the thought that I might be autistic . I’ve got friends, I’ve worked full time before, I’ve got a degree and in some ways I’m very different to my sister (who’s in full time supported accommodation, can’t work beyond voluntary and needs help with all aspects of life) .

The doctor said I need to have genetic counselling as there’s a risk I might pass on any problems to any children I have, and I need to be prepared for outcomes I might not like .

I’m a bit thrown as didn’t expect any of that today, just thought it would be talking about anxiety !

Has anyone ever been through similar and can put my mind at rest a bit please x

I don’t mean to suggest that people who are autistic cant have friends etc, in case that’s how it sounds !

My son has a genetic deletion, he had genetic screening at just under a year old after a several episodes of sezuires. His deletion is linked to sezuire disorders, autism, adhd, add, sensory processing issues, language problems, learning difficulties, heart and rennal problems, and mental health issues. It varies how much people with it are affected, some people who have it seem completely unaffected by it. But people are usually only tested if there is a problem sever enough to warrant it and some relatives afterwards if they want so it could well be that lots of the population have things like this.

My cousin has been tested due to her difficulty with managing her bipolar and has the same deletion as him. There is research papers written about how the deletion works with particular medications making them less affective than others. Since testing she's been moved to a different medication which is helping her more.

Thank you, that sounds like it could be quite helpful then . They did talk today about different medications that could help me get a life back of sorts but they mentioned tranquillisers and anti psychotics first which sounded more concerning and frightening .

I got more in a panic in case they were trying to tell me not to have children, but it doesn’t sound like that’s the case . I suppose it helps if any children I had were affected they might get a faster diagnosis I guess .

Ds is our second and our last by choice before we got his diagnosis. But we were told if we went on to have subsequent children more testing than normal would be offered in pregnancy but we could still have them. It's very likely that I have the same deletion as ds and that it has been passed down my dad's side of the family with my cousin having it too. We've yet to be tested ourselves, as our original blood tests were lost by the practice nurse and we haven't got around to doing them again. Dd was tested when she had some health concerns crop up and does jot have it.

If testing does find anything, you're still exactly the same person you were before with the same qualities and achievements. You might just come away with a reason to why your body behaves differently to others.

My cousin found her diagnosis incredibly healing and freeing because it wasn't her fault anymore, it was her genetics not her not trying hard enough to be well when what she was doing worked for almost everyone else.

For ds it means that for the most part concerns are taking more seriously as we know he may have a predisposition to certain things. It means school are hopefully able to get extra support in place quickly when he starts. That there is less waiting time to see if he might grow out of things before support is put in place.

If you do get a genetic diagnosis come back we have found the community at Unique incredibly helpful and understanding.

Thank you so much, your posts have been a huge help . I can understand what your cousin means re having a reason for things being quite freeing . A lot of my mums family can be really quite rude to me and I think it would help me to be able to say to them that there’s a reason I struggle with some aspects of life .

I think sister and I are going to try going out for a hot chocolate and cake before Christmas and talk it over a little . Have tried with my mum but I’m not sure she fully understands what I mean (she has multiple mental health issues herself) and a bit stuck for anyone else in r/l really .

Going to try phoning GP tomorrow as well, the doctor didn’t offer much today in the way of helping me if that makes sense, and that’s what I am needing , if there’s a way of making life any easier .

Thank you

My daughter has been screened twice this year, they found something odd. I've not heard back from them about the retest yet. Myself and her dad have had to have bloodtests as well. It's quite scary, the waiting. But it sounds like it would be very useful to know.