Genetic counselling - what to expect?

[scared7869]

Have a video appt next week for genetic counselling - I have numerous MH issues, and sibling and two parents with autism/MH issues . Psychiatrist thinks there might be a genetic cause especially as two cousins very, very similar - they’re thinking something like fragile x . Said I need to consider whether I should have biological children in case they are the same . If I did they’d be screened for autism or something .

I’m dreading the thought of this appointment especially just now when I’m feeling throughoufjly alone, providing my mum with full time care, and her mother too . I don’t want to get upset and be alone with that iyswim . I’ve tried talking to my mum but she just ‘mmm’s it says, ‘oh dear’ ... haven’t told anyone else in rl .

Hi op, it sounds a worry for you, but hopefully it'll help you make informed choices and talk through your plans for (biological) children.
They will most likely ask about your family history so if you're able to make some notes of people in your family with the similar conditions, their relationship to you (eg cousin- mum's sister's daughter) and the age at which they started to display symptoms (if relevant /known) that would be helpful (you may have already provided this). If they think it is a genetic condition then they'll talk through different options for you going forward. Its difficult but try to think of as a positive - they're there to help and support you.

I can see what you're nervous but I bet this will really be a good thing for you in the long run. Take plenty of time to mull over whatever information you get and don't feel rushed into anything.

Knowledge is power and an informed decision is almost always better than a shot in the dark type one, really. This is a positive and proactive move on your part.

Get as much family history as you can... if you can draw a family tree, so much the better.. and list the issues... who has MH problems, autism, learning delays/disabilities. It all really helps to build a picture.
Photos of family members (especially those with issues) as geneticists can spot 'features' (expecially for inherited conditions like Fragile X) that give them clues (even if they are 'just the family ears' to you!)
My youngest has disabilties and the genetics team were fab..though ultimately not able to give us a firm diagnosis (he has autism, LDs and some physical issues) but my two girls who have Ehlers Danlos Syndrome found the genetics people very helpful, mostly because they are now armed with knowledge for how they might pass their condition on!

From my own experience of having done the process twice OP, ultimately it is simply going to be a long list of questions about every branch of your family, their details and relationship to you biologically, any symptoms and diagnoses they have had, and when/at what age/by whom.

Unless the psychiatrist is suggesting the I inherited cause is something that can currently be tested for and the gene is identified I would manage your expectations as the decision in whether to have biological children if this is the case will be down to you. In my experience they will not advise 'either way' but will simply weigh in with a likelihood, offer DNA testing if it is available for the condition and advise you of where to seek a referral to should you go ahead. I would make sure to gather as much family tree info as possible with dates of diagnoses, where they were diagnosed, their symptoms, age they presented etc - as well as your own of course.

As it stands I believe Fragile X can be tested for via a blood sample so if this is suspected I imagine you will be asked to give blood at some point and await results. If you want the test done but it isn't offered then do ask for it - you do have to be a little pushy sometimes with these things.

As an example. I have a physical genetic condition, it cannot currently be identified (the type I have, though is available for others). However I have a diagnosis. Likelihood of my own biological child ended up with it is 50/50. I was advised that there is no way of knowing how severely it would present if it did appear in their DNA as many with the condition live a full life and minimal symptoms, and others (like myself) are disabled and do not. However the geneticist gave me the details of a colleague for my GP to refer to if I decided I wanted to try for a baby in the respect of her having an interest in my health condition and pregnancy and it being a potential health risk/risk of long term damage for me carrying a baby. Unfortunately my genetic condition is rare and the research just isn't there yet and wont be in my lifetime (so says the geneticist) so a lot of it is educated guessing as the disorder affects each person differently.