Conceiving with a genetic issue - thoughts please

[Elephantsandbears]

I've name changed for this. I'm sorry if it's in the wrong place - I couldn't see an obvious place.

DH and I would like to TTC in the next year. I have a genetic condition that is dominant, so 50% chance of passing it on. It isn't life limiting and mainly involves risk of sensory loss. There might be other issues but it's quite a rare condition so no large scale studies etc. I've inherited the condition mildly, which for me means a yearly check up plus some (unintrusive) medication. It can feel stressful but luckily hasn't affected me in a physical sense. Hopefully it will continue not to do so.

The problem is, if I pass the condition on nobody knows how it will show itself. So it could be even milder, but could also be a lot worse. We've applied for a genetics appointment, but from what I've read about my condition it's not clear there is a test available. Even if there is a test, I'm not getting any younger and applying to do PGD and IVF would be a long process.

DH thinks we should probably just go for it, and deal with any issues as she when they arise. He's also keen to find out more about the treatment options if there was a big problem, as there have been a lot of advances in the last 20 years or so.

I suppose I feel a bit anxious and alone really. I worry about passing on the condition in a more severe form. I also worry because I'm very private about my condition (there are longstanding reasons for this) and I feel that passing it on would make it public. I also feel like all I see is people posting photos of their new babies on social media, accompanied by something about them being "100% perfect". I'm pleased for them but it wounds me a bit sometimes.

I'm somebody who likes to plan things and know what they're dealing with, and so far I've been very fortunate in my life. We've got great family and friends and good jobs etc. But with this I just feel helpless, as I can't "plan the problem away". I'd be really grateful for any thoughts or perspectives. I know there are worse things to have to think about, but please be gentle as I really am struggling with this.

I don't have time to reply right now but I will. In short dd has genetic condition and I am pregnant disputed no diagnosis

??????????

What is the worst case scenario if it passed on?

It's a minefield having a baby, even without your concerns. There is never a guarantee of "perfection" (whatever that means).

I can understand your feelings. I think I would look at the worst case scenario and how likely it is and proceed from there. It's possibly less likely than any of the other things that can happen. Personally, IVF wouldn't be for me in these circumstances.

Jesus sorry - those question marks are meant to be flowers. Sorry!

Any baby born in to this world is 100% perfect in there mother and fathers eyes. It's your precious little bundle of course it will be.
With or without any conditions or disabilities of any sort. You have cooked that baby for 9 months in your own body, it's truly magical.
Whatever happens I wish you good health and happiness!!

You poor thing. When would the genetics appointment be? Depending on their assessment of risk, you might be able to jump the NHS queue for IVF - a girl I know had a similar situation and was given NHS IVF almost immediately.
If I was in your situation, I think I'd consider the worst case scenario - if the worst happened, would your child be able to live independently one day? If the answer is no, I'd worry about who would take care of them after I'd gone, and that might make me fight for PGD and IVF. But if the worst happened and they would still be able to have a good, independent life, then I'd be more likely to go for it naturally.
As everyone says though, there is never any guarantee of good health (physical or mental). for you and please take care of yourself.

Thanks for the replies so far. I'm trying to be deliberately a bit vague, but the worse case scenario (as is generally understood) is that there is a progressive sensory issue present from birth or early childhood that doesn't respond well to treatment. This would involve multiple hospital visits / medication along the way. There's also in my view an anxiety issue around the progressiveness. I appreciate having a baby always carries risk of some sort, and that every baby is loved regardless, but in this case I know I could pass something to a baby that's much worse than the problem I have myself. That doesn't feel good.

Oranges - yes they could live independently, even in the worst case scenario. There would be a lot of options to try before total sensory loss. The primary issue for PGD is that the doctors have to know the genes responsible, and with my condition this often isn't possible. Appointment is soon. Thank you for your kind words.

elephants DH and I both have Ehlers Danlos syndrome type 3, I have dyspraxia and DH has aspergers syndrome. We've got 5 lovely boys. None of them is "perfect". 1 has complex medical issues, 1 is moderately disabled and the other 3 have mild problems with low muscle tone, hypermobility and social communication. I would go for it and have a child without PGD IVF. But that's my personal choice. I understand how you feel about the "100% perfect" stuff, that upsets me too. I try to remember that it's just a snapshot into somebody's life. Nobody has the perfect life, even though it looks like some people do on facebook.

elephants hopefully they may be able to suggest something at the appointment. From what you've said, I'd probably go for it naturally, but try to do everything I could to build up a pot of money for my child so that they had something to draw on if/when they needed it throughout their life. Unfortunately any kind of sensory impairment or disability tends to be expensive in comparison to being healthy, and having some money can really help. (I speak from family experience.)
Forgive me if I'm wrong, but it also sounds like you (and maybe your DH) might benefit from some kind of pre-conception counselling? Maybe ask at the genetics appointment if there's anything they can offer to help you think through all of the possibilities and to help you deal with what you're feeling?

And ellie you are so right about FB!

Hello OP

Posting because I have a genetic condition which predisposes me to cancer (Lynch syndrome) and I am currently undergoing IVF with PIGD. It has taken over 2.5 years to get to the stage where we are ready for a cycle. The genetic mapping is quite complex for Lynch (and I assume generally), but tbh the clinic is also massively inefficient.

With hindsight I wish I had just TTC'ed without doing PIGD because I am over 40 now. Would in utero testing for your condition be an option? I assume they do those tests quite quickly because there is a limited window. It might be worth looking into?

Good luck.

Thanks ellie for sharing. It's given me a different perspective. Sounds like you have a lovely family.

Oranges yes that's a fair point re savings. We're fortunate that we're pretty comfortable and so are our families, but might be something to think about. It's interesting though because as I'm typing this I'm reminding myself that the worst case scenario is pretty unlikely. With problems like the one I have, a key concern seems to be 'compliance' with medication. Both DH and I take medication for different things, and we're scrupulous about taking them every day and at the right times. So that's clearly something we'd follow for any DCs, then later do our best to instill in them the importance of it.

I've thought about counselling. I think I know deep down that a lot of my anxiety relates to wider family things that I'm sort of "acting out". Obviously I don't want to go into detail, but I do have some issues with choices that my parents made etc, and I want better for my own DCs. If that makes any sense.

Just out of interest, I combed old MN threads before I made this one, but couldn't find anything about anyone making these sorts of decisions. Is that because people don't tend to overthink this stuff, or do other people just not want to share? There must be a fair few people with a genetic issue, so interesting that not much comes up.

younggirl very best wishes to you. I can sympathise with the inefficiency you've found - it's taken us ages to get our first appointment.

If they can find the gene then we could look at in utero testing. But I think we'd still have the issue of not knowing the extent of the problem at that point. I'm very much pro-choice but there would be a good chance of the baby being basically fine, like me, so I couldn't act on a positive test result IYSWIM.

Ah, totally understand elephant Sorry if my post was presumptuous. I have become rather blase about these things!

The crazy thing is that 2 of DH's relatives have developed health issues that probably have a genetic cause (and one of which is life-limiting). It seems nuts that we have wasted 2.5 years trying to make sure we didn't pass on my "problem", when who know what else any DC will inherit from DH which the tests won't find or don't look for...

One good thing is that they test the embryos for Downs and other abnormalities at the same time as the PIGD for whatever condition they are looking for. I think you will also find that they insist you both have genetic counseling first. In our case that appointment also took ages to come through! It's never an easy decision, but mainly I wanted to warn you that the PIGD route will probably not be very quick.