To get genetic testing for this

[doalot]

One of my cousins, we’ll call him Dave, has a rare genetic mutation and both his kids have it too. He discovered circa 10 years ago as he noticed development delay in eldest DC and so he and his wife took her for genetic testing. Since then my aunt has been for testing and has also got it. He told my other cousin (not the same parents) because other cousin has a DS who is also exhibiting similar behaviours and traits of ASD/ADHD and is remarkably similar to how Dave’s DD presented.

We are all estranged so I’ve heard on the grapevine, basically. I would think nothing more of it except I have always suspected autism in myself. The relationship isn’t close enough for me to approach and ask for more details nor would I want to pry as Dave is still coming to terms with it

It’s a rare micro duplication or micro deletion, I don’t recall which. There is little known about it other than results often in autism and ADHD and there’s nothing out there on the internet really. Out of a very small group of participants in the study (something like 50 overall) something like half of them also had a cardiac issue or defect that didn’t present until 40s. Of the half, nearly all were female.

Less worried about any neurodiversities in my child as if that happens, then it does. Not life altering and we’ll manage. Worried about the stats of the cardiac risk although as I say it’s a very small sample size. I’m still in my 20s

Would you actively seek out testing for yourself in this situation and if not why not?

YABU - no, leave it be, the relation isn’t close enough
YANBU - yes, knowledge is power about these kinds of things

Not to drip feed, but I don’t know whether we’d have to pay private for this kind of thing

YANBU. We were in a similar situation. DHs estranged dad remarried and had another child. That child has significant developmental delays and genetic testing showed she has a rare genetic mutation. Her parents were also tested and DHs dad also has the mutation although he doesn't have any symptoms. Apparently there is around a 50% chance of any children having this mutation if a parent has it. DH is estranged from his dad so, like you, we heard this through the grapevine.

I was actually 35 weeks pregnant with our first child at the time we discovered this. DH then became concerned that he may have this mutation and, consequently, our child may have it too. We wanted to be prepared if they did indeed have it as this mutation can cause significant physical and intellectual disability (but it also may not cause any issues, there's a huge spectrum).

Long story short, DH does not have the mutation. Around 90% of cases of this mutation are inherited and it's pretty vanishingly rare, so we were pretty confident we had nothing to worry about and sure enough DD, now 4, is perfectly healthy. I am happy we made the decision to get DH tested.

Is the aunt a blood relative or married to your parent’s sibling?

Blood relative

Would the parent related to the aunt get tested? If they don’t have it then couldn’t be passed down your family. Test that would be needed is a CGH microarray but not sure if it would be offered on NHS unless you have symptoms.

If you chose to do it, it's always something you can keep private no need to tell anyone at all.

But Anything like this I would always do. Not for them. But for you for peace of mind in my case. It's always better know than spending your fertile years playing the guessing games and the anxiety and what ifs.

That’s true

I don’t think she would but more because she’s got health anxiety anyway so I think it’s kind of a denial thing for her. I might ask again

Your parent (intervening relative) should ask their gp to refer them to their local NHS genetics clinic.

If your parent is not interested ask your own gp for a referral yourself noting this.

My dd has a very rare genetic mutation which she inherited from her father. He didn’t know he had it as symptoms tend to be more pronounced in girls.

I asked for my son to be tested as even though he didn’t have any symptoms I thought it was best to know for sure. The nhs geneticist was happy to test him for peace of mind.

It's a good idea to get tested. My friend's first child had morquio syndrome - symptoms don't appear until the child is a toddler and then get progressively worse. I believe the whole family got checked out in case they were carriers.

why dont you just ask him for details about where he inherited it from?

Thank you. Did they do this on the NHS for you

They did do it on the nhs. We had to wait for him to get a referral in his own right. Which took about 5 months. Then about 12 weeks for the test results to come back. He got the all clear last month.

You should speak to your GP about it. I carry the cystic fibrosis gene so we got my husband tested and my siblings were also tested when we were all having children of our own. They do this genetic testing on the nhs if you have a relative with it. Cystic fibrosis is very common though so may be treated differently.

It's not clear to me what you would do with the information, OP, how would you live your life differently, or manage your child's life differently if they had it.

I'd rather not know for most things, if it's not something that can be dealt with through lifestyle changes or whatever then it would just make me fret.

My friend had a test to see if he had a genetic predisposition to an increased risk from a certain type of cancer after it became known a member of his family had this same genetic predisposition and if he did have it they would have tested him again yearly for the rest of his life, in my 30s I'd hate to have signed up for such a thing.

He didn't have it btw

Thank you, in some ways I feel the same