Inherited condition

[NotPerfectlyAdverage]

Without wanting to out myself. We have a genetic condition that was unknown before we had kids. It's been passed on to our kids. But they now know so there the debate of do you want to knowingly risk passing that on.

It's not a syndrome as no one else as far as we know has this. It's a SWAN - syndrome without a name. So ds is 18 and debating if he wants a kid with his condition.

I have debated this with other SWAN people and they are telling me that anyone can have a genetic abnormality so it's a risk everyone faces when having a baby.

I'm a bit surprised by this. Like everyone could have with say a child with Edwards. But if had the gene for it you'd consider the implications surely? It's not Edwards obvs but just because it doesn't have a name doesn't mean it's irrelevant.

Or does it? The gene is related to ASD and both effected childten have significant sen. Our other kids who didn't inherite do not have such needs

Is it recessive, dominant, or more complicated?

Is your ds a carrier (I assume he's tested) or actually has the condition?

If it's dominant, then he will only have the gene if he is effected by it, but it's a 50/50 risk of passing it on assuming his partner doesn't have the gene.

If recessive, then his partner would need to be tested; if both have the gene, but is not effected, then it's a 25% chance of the child being effected and 50% of them being a carrier.

In all cases he can probably be tested for the gene, as can his partner, and could have children through genetic testing IVF to eliminate the gene.

It's not a decision he needs to make now, but he would need to make a decision with a future partner.

Absolutely no idea as no one else has this condition so not even genetics know. I don't have the mutation, dh does. So 50 of dh sperms has this mutation but it's not mosaic in him. So 50 of dh kids will get the mutation and have related sen. Same for my two kids who inherited it.

The only way to avoid it is as you say pdg ivf or amino and tfmr.

Neither a nice option.

We have a genetic condition in my family, I didn't know when I got PG.
There is sometimes debate within the condition's 'community' whether it is more ethical to let nature takes its course or whether to screen out. Generally it seems religious Americans are against screening and most others are in favour.
Personally, if I had my time again, I think I would have done pre implantation testing which the NHS now offers for our condition.
I know some are offended at the suggestion because I and one of my DC wouldn't be here if that was possible historically but I am a fairly straightforward (blunt?) person so just can't bring myself to be offended by something so theoretical.
The DC in our family who have inherited the condition haven't reached the age of making such decisions yet so I don't know their considered thoughts on the matter.

For your SWAN, do the Drs know the affected gene? If not, is it even possible to screen it out?

Yes they do thanks to modern genetics. We know the exact location, size and even what codes for. It's abosulty tiny in terms of a chromosome but that gene does something important

If DH has the condition and you don't, but you have affected children, then it sounds like it's a dominant condition. That would fit with the 50-50 chance of a child of an affected person also being affected.

In terms of screening for an inherited condition like this, one person may feel generally happy with how their life with their condition has unfolded and be happy for a child of theirs to potentially have the same experience. Another with the same condition may feel that their condition made life significantly harder and want to take all possible steps to avoid that for their child(ren). That's their lived experience. I'm not sure it really works to try to generalise it – it's down to individual experience, family circumstances, willingness to take risks, etc.

That said, I think 'anyone could have a child with a genetic anomaly' is rather oversimplifying it. Likelihood matters, and what the available options are matters. The average couple have a low chance of having a child with genetic anomalies and no realistic way to screen for all the possible conditions. That's quite different from knowing you have a 50% chance of passing on a condition and having access to screening for that specific condition. A person may still perfectly reasonably choose not to use any screening, but it's a different choice.

When your sibling was diagnosed with autism at 3, non verbal at 7, Illiterate it's pretty terrifying I guess that your kids could face that too.

Dhs parents had the luxury of presuming dh was just lazy hence failing every gcse. The fact that he's also failed every course he's ever done since we'll into adulthood has never raised suspicions either. I just don't think they believe in learning disabilities. Mil actually told me I was ridiculous and no child is incapable of passing gcses ( except her own son of course)