My partner (34) and I (31) have been trying for a baby for the last 5 months with no luck.
He had an aortic dissection in March 2020 undergoing 12 hour emergency surgery, followed by 2 additional surgeries and 6 weeks in hospital – 3 of which he spent in a critical condition in ICU. He has thankfully recovered well since and DNA tests have revealed that he has a rare genetic disorder called ACT II (a version of Marfan Syndrome) which caused the dissection. He has also been diagnosed with a second genetic disorder called Polycystic Kidney Disease, causing cysts to grow in the kidneys and which often leads to renal failure (his kidneys are currently working at 40% and the goal is to prolong this as long as possible).
Both genetic diseases are chronic and apparently people have more chance of winning the lottery than having 2 genetic disorders, so he was incredibly unlucky with his genes.
Today we had an appointment with the geneticist to discuss our options for conceiving:
- we can conceive naturally but the baby will have a 50% chance of having one of the genetic disorders and a 25% chance of having the two genetic diseases.
- IVF where the genes can be isolated but the wait is 3 years
I don’t know what to think. If we go option 1, we can (hopefully) have the embryo tested for either illness after 10 weeks. They need to confirm that they can detect the 2 disorders by doing so so this is TBC. If the baby has a genetic disease(s), we can decide to terminate the pregnancy. No doubt this will be incredibly traumatic but if the baby is diagnosed with ACT II, there is a high chance they too will suffer an aortic dissection. My partner survived it but he is one of the lucky ones, 50% die before even getting to surgery. I feel very strongly that I don’t ever want to go through that again or put a child in that position. The up side is that the child would be on treatment from a very young age and have regular check-ups, something my partner did not have. However and aortic dissection in ACT II patients is completely unpredictable.
Another aspect of conceiving naturally is that it is going to be a struggle too. My partner is on a lot of medication and while this are getting better between us, sex is often difficult. He has difficultly having an erection and low libido which the doctors say is a side effect of the medication. We generally have sex once during the ovulation period, we have not managed twice. I’ve been using ovulation predicting kit to know when I am due to ovulate and I track my cycle, so that we can time it.
But the other option is IVF, another traumatic experience and the issue I have here is timing. The waiting list is 3 years, meaning I would be 35 before having my first child, all going well. I just don’t know if I can wait that long when it is something I desperately want now. They have suggested we could also go to a neighbouring country where the wait list is 6 months but we must pay €15k–which is a lot of money.
I’m so scared something will happen my partner again so 3 years seems like a lifetime. But I also don’t know if I can live with giving my child a genetic disorder or possibly a death sentence with ACT II. PKD is much more common and therefore I feel ‘manageable’, this is the lesser evil.
Apologies this has been such a long note, Im struggling with this so much and there is only so much I can discuss this with my partner. I havent yet told anyone else we are trying to conceive so I feel very alone in the process. I don’t know what to and would love any advice.
We are both due to get fertility tests done in the next 3 weeks (to make sure IVF is even an option), so I suppose this is the first step.