Baby was just diagnosed with a genetic condition and I’m scared. Anyone with experience or advice?

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booneville701

New member
My wife is 14 weeks pregnant with our first child. We are having a baby girl and I’ve been super excited about becoming a father. We just received the results of the genetic testing and received some tough news. It seems like our baby has something called trisomy x syndrome which is an extra X chromosome. It has completely consumed both of us with anxiety because this condition is a gamble. Some girls show absolutely no symptoms while some have mild learning disabilities. Some girls with the disorder (about 10%) have severe physical and mental issues. It feels like we’re playing the waiting game to see how bad it’s gonna be and that really sucks and takes away from all the joy I had originally felt from being a father. Has anyone else received tough news on the genetic screening? If so how did you all handle/work through it?
 
@booneville701 All I can say is that we've been through that roller coaster too, but ours was a Positive hit for Turner's Syndrome on our NIPT test. We grieved the potential ramifications for 6 weeks because we had to wait till week 20 to do an fluid draw from the amniotic sac before we finally found out that the NIPT had given us a false positive (the amniocenteses, as it's called, is way more accurate).

So while that worked out for us, we were very seriously considering terminating if we got a positive confirmation. Aborting is a super personal and serious decision for everyone. We weren't exactly thrilled with the thought, but as you're probably aware, life is HARD lately. Everyone is stretched thin, works too much, makes too little, and the reality of raising a child with disabilities with lifelong ongoing medical care in the mix... it was too much for us (especially since we're probably only having the one kid in this economy).

We got lucky and our girl is healthy and normal (as normal as a sociopathic toddler can be at any rate), but as an internet stranger, I wish you the best, and I hope you find peace with whatever decision you make. Don't let anyone but you and your wife make the decision for you, it's easy to give advice on reddit, it's hard to be the one doing the hard work day in and day out.
 
@booneville701 Our baby was just diagnosed with a defect called omphalocele and I know exactly how you feel. We found out on monday and it was one of the worst moments of my life. My wife was crying and the baby kicking made it so much worse for her. She felt so guilty because she is the mom.

Our diagnosis has such a wide variety of outcomes from no issues to the worst case possible, i cant even say it. Its so hard with all the unknowns until we get an appointment with a high risk doctor.

All i can say is that I do feel much better than i did 3 days ago. I have accept that my baby Parker that i already love so freakin much is going to need an operation. I just know i need to stay positive. I know Parker is going to be so tough and stubborn like his mom that he is going to be just fine and get out of the NICU in no time.

Lean on anyone you have to help support you whether its friends, family or whoever.

This probably doesnt help much but know you are not alone. Find a facebook group for people with similar diagnosis.

You got this. Stay strong but you do not have to be a super hero. Im crying just typing that about my baby.
 
@unhappy2019 Thank you, and I’m sorry to hear about this diagnosis. The wide variety is what makes it difficult. In our case many have no symptoms while some have kidney failure, life long seizures, autism and very low IQs. It’s scary because you visualize your kid having a normal happy childhood. It’s also scary knowing that you will be waiting around paranoid for symptoms to start.
 
@booneville701 It’s not good news and I’m sorry you have to go through this, but it’s also not terrible news either.

In all likelihood your daughter will be totally normal, and the statistics for prenatal diagnosis are quite a bit better than for post natal diagnosis(which usually happens because of already observable issues, ie sampling bias). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501572/

Note the IQ numbers from the study for prenatal diagnosis, average IQ in the US is about 98, so not much different. Developmental delays are much more common( but also mostly temporary it seems) and things like ADHD but ADHD has a 20% rate for the general population. So 2.5 times the prevalence, but 1/2 vs 1/5 it’s not preferred but is it that much different or that bad? ~5x chance of autism relative to the general population but still would not have it 19 times out of 20. Not ideal but not that terrible either. I should also say it’s not a very large study so it could easily make things look worse than they actually are.

To frame it a bit differently even if they didn’t have this trisomy it’s still a gamble whether they have autism or a learning disability, or most of the other things they are at increased risk for. This just makes the odds a bit worse. In other words we’re all just rolling the dice and hoping for the best.

I wish you the best of luck!
 
@booneville701 OP, I hope you are ignoring the judgmental comments--only you and your wife can decide what is best for your family. I'm so sorry that you have had this news and I would recommend visiting the r/NIPT sub to connect with others who have had a XXX diagnosis. Sex chromosome aneuploidy is so difficult because it is such a grey/spectrum diagnosis with a wide range in how much it impacts each individual person. Our son was diagnosed with what is essentially the male equivalent (XYY). We ultimately made the devastating decision to end the pregnancy as we did not want to risk putting our child through the pain of living at the severe end of the spectrum--but I also fully support those who decide to continue. Every family is different and there is no "wrong" choice here. It is all so hard and I will be thinking of you and your family.
 
@booneville701 No but I work in special education and I worked with one student with trisomy x. The student did have some learning disabilities if I remember but otherwise she was quite functional (fully attending classes in high school, etc.) I don't think I would have suspected any type of genetic condition had I not known about her diagnosis. I can only imagine it's a lot to swallow though. Your daughter will be perfect.
 
@booneville701 Trisomy X is not as big a deal as it sounds. All female bodies have mechanisms to deactivate all but one X chromosome anyway(Barr bodies). Basically, the body fixes this... Kind of

If I recall correctly, about 0.1 percent of woman have this and like 90+ percent have no idea, because there's just nothing different. Actually, it's possible more have it and we just don't know since it's not commonly tested.

There's still a possibility of some issues(mild cognitive issues) and I would recommend talking to a doctor obviously. But it's unlikely to affect your little girl. Lots of people have genetic issues if you go and look.
 
@booneville701 My wife has Holt-Oram syndrome so we knew our baby would have a 50% chance of inheriting it. It can be really mild or it can be really bad so it was a tough wait. It's not something they can test on the NIPT either, they could do an amnio but we didn't want to take the risk of doing that.

The best way of figuring out if he had it in utero was seeing if he had a thumb on his left hand in the ultrasound. Unfortunately he absolutely refused to show us his full left hand in every ultrasound so we literally didn't know until he was born. It turns out he did indeed have it, and it was more severe than my wife's, and he'll need open heart surgery quite young (he's 19 months now and goes in for surgery in a month). But it's still nowhere near as bad as it could be. I definitely get the anxiety about not knowing before he's born I guess is my point.
 
@booneville701 It’s tough man. Our kiddo has many of the symptoms of NF1 (mama has them too).

NF1 can either be a crippling condition or completely unnoticeable (as it is with mama.) We won’t know until our kid is 7 or so.

It consumed us for a bit but to be honest seeing our beautiful funny smart little kid helps. She’s absolutely perfect in every way and fills me with such joy it’s easy to forget about the spectre hanging over us (so much so I forgot what the condition was and had to google it). So my advice would be to just try to enjoy the pregnancy for what it is.
 
@booneville701 All I can say is when you see your baby and hold them for the first time you’re going to fall in love. No condition or genetic differences will ever be able to break that connection. I wish you the best of luck dad.
 
@helpmeunderstand Thank you for that. We both know that we will love her no matter what. Selfishly it’s scary to think of loosing our independence and unselfishly it’s scary to think of my kid having a challenging childhood.
 
@gdsmith I mean, the child exists so what other choice is there? Like, she's coming whether you like it or not.

You're surely not suggesting that a disabled child has less of a right to live? That would be monstrous
 
@gdsmith At 12 week scan I watched our baby kicking and playing her little arms and legs, her hands, her head. What do you think 'aborting' that looks like?

That is utterly monstrous.

A child with a disability has just as much a right to live.
 
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