TTC and genetic risks - what would you do?

[Raffie13]

Myself and DH are in cycle 2 of ttc for our first.

Yesterday we found out from a geneticist that we have a 1 in 250 risk of having a child with a specific genetic condition (I don't want to name the condition online as it's very specific and could identify us to anyone who knows us). This is based on our family histories.

We are obviously taking this further and we are being referred for blood tests to find out if we are carriers of the condition. However this is going to take some time, as our bloods will have to be sent to the hospital where they have my relatives DNA stored, to then send off to a specialist lab.

The issue is...
I now feel torn about whether we should continue ttc knowing the potential risk. I feel cautious, but also know that we have waited so long for this and to start trying, and the timing is right for us at the moment.

Despite the fact I feel cautious, DH thinks that we should continue ttc whilst we are getting the tests done.

I appreciate this is massively subjective and down to your own personal choices and opinions, but what would you do? Put a hold on ttc or continue? I'm trying to weigh up my options and generally need some guidance this this.

@raffie13 sorry to hear you are struggling with this decision. Obviously its very personal and I can't give you the answers, also I suppose it depends a lot on the condition and how it effects quality of life.

I have a genetic condition which hasn't impacted my life a great deal: some pain from time to time but I continue to work, enjoy life and exercise and we are planning to have a baby. A male baby would be more likely to inherit the condition and it could be quite debilitating. My grandfather for example suffered with a very noticeable deformation and struggled with pain in later life, but he still led a very full life: a military career, a family and several successful businesses.

Another thing to consider is medical advancements of course, you never know whats around the corner.

Hoping everything works out fine for you x

Sorry op but to me it depends on the condition whether I’d continue to try before the tests. I’d think I’d wait as my oh has just lost his 6 year old niece who unfortunately inherited three different conditions, and she had far better odds of being healthy than your baby. Would you abort if you got pregnant and the baby had this condition?

So if you are a carrier you have a 1 in 250 risk? Or you have that risk regardless? Have you got time scales for finding out more?

Depending on the condition you can screen embryos for a specific conditions - I've done this for a 1 in 2 condition, It took 4 years from referral to pregnancy. I personally wouldn't go through it for such a small risk.

Alternatively you can screen once pregnant, with the possibility of having to make difficult decision if your condition was identified.

For me continuing to TTC would all depend on the severity of the condition and the timescales involved. Hope you're ok, genetic stuff is hard

@Kay00 @Growapair

Thank you both for sharing your perspectives. I really appreciate it. I think I just needed to open up to someone as none of our friends or family even know we are ttc so I don't feel I have anyone to talk to other than DH at the minute.

DH is happy to do whatever I feel is best. The condition massively effects quality of life which is why I feel it's so important to follow this up armed with the knowledge we have. It's relatively new (my relative with it was diagnosed about 20 years ago back when it was still newly in research at that point) so I'm not convinced about the advancement of medicine/treatments for it at this point either.

Thank you both so much for your comments as it's given me lots to think about (such as that above) and it's helping me to solidify my decision.

@Parkandride

Based on the fact we haven't been tested yet, I have a 1 in 4 chance of being a carrier. My DH has a 1 in 16 chance of being a carrier.

We both need to be carriers in order to have an affected child. Which the geneticist said is a 1 in 250 chance. (I'm hoping I am reiterating this info correctly!)

I think I will contact the geneticist and ask what type of time frame we are looking at to find out the results.

Can I ask if it came to the worst and your baby did develop the condition could it be possible to be detected in the early stages of your pregnancy?

1 in 250 risk wise? Is this classed as low risk?

If this is a condition such as sickle cell disease I would wait to find out if you are both carriers!

My DS has sickle cell trait when I found out I was heartbroken and I couldn’t believe I hadn’t looked into this deeper myself. I thank the lord that only DS dad has sickle cell trait and that now means DS is just a carrier himself (although it still makes me uneasy) DS is totally healthy.

[quote Raffie13]@Parkandride

Based on the fact we haven't been tested yet, I have a 1 in 4 chance of being a carrier. My DH has a 1 in 16 chance of being a carrier.

We both need to be carriers in order to have an affected child. Which the geneticist said is a 1 in 250 chance. (I'm hoping I am reiterating this info correctly!)

I think I will contact the geneticist and ask what type of time frame we are looking at to find out the results.[/quote]
Got it, so if you are both carriers the chances of your baby being affected are 1 in 4 (with 2 in 4 of them being a carrier too, and 1 in 4 unaffected)

In that case I feel I would like to get the results about your carrier status, that shouldnt take too long and if either are unaffected you can crack on with TTC. The odds are in your favour though

Any further in your decision op?

@Growapair we are not actively ttc this month, and I'm going to follow up with genetics and get a general gist of how long this process might take.

It's awful because I don't want to feel like we are wasting months if we don't try, but I also don't want to put any future child at risk. Although if I found out the unborn baby was affected I wouldn't continue the pregnancy. I obviously don't want us to be in that position in the first place!

Ive found this thread so helpful!

I’m in a similar situation in that I have a hereditary condition that is 50/50 for passing it on also not been around a long time 30yrs or so, It is life impacting but can range from mild (I have) too more severe with impacts on heart and overall development etc.
It’s always been a concern for me but I know I want a kid, our plan is to prepare as best we can and get tests where possible!