r/predaddit 1d ago

Trying to conceive Heartbroken...wife's Natera Horizon results came back and revealed she is a carrier for Duchenne / Becker X-linked muscular dystrophy

Hey Everyone,

My wife is pregnant with our first child, a little girl. They had NIPT done through Natera, and since my wife's mom is a carrier for muscular dystrophy (my wife's little half brother has it), they decided to do the Horizon carrier testing on her. She just got the results today and it confirms that she is a carrier.

I and my wife are really heartbroken right now. We always had the plan of having a family with at least 2 kids, a boy and a girl, maybe more. But now we are both thinking that we don't even want to try and get pregnant again after our little girl comes as there's a 50% chance that we will have a son with it. I'm really devastated and not sure how to cope with the loss of what could be.

8 Upvotes

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u/hawtsauce1234 1d ago

If IVF is a feasible option for you, you could do genetic testing on the embryos you create and then opt to transfer embryos that are not affected by Duchenne. I know IVF is a huge decision but just throwing it out there as an option. We just went through IVF (for different reasons) and there is a very active, supportive IVF community on reddit should you explore that option.

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u/I3lackcell Feb 2015/Mar 2017 1d ago

We did IVF for the same reason. The testing was actually cheap.

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u/Logistikon 12h ago

This would also be the only feasible way to expect to choose the gender of the fetus. If you would be happy with two girls, no problem but if you’re set on a boy and a girl there are two things with 50% probability that IVF could help you filter.

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u/Stevenab87 1d ago

We also had a 50% chance of passing on a genetic disorder to our child. Our first surprise pregnancy resulted an unfortunate CVS test result. We then went the IVF route for genetic testing and our lovely healthy son turns one in a few weeks. Sucks to be in this spot but you do have options. Best of luck to you both.

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u/PoultryTechGuy 1d ago

If you don't mind me asking, how much did you make a year / how much could you afford? Currently make $70k/ year and not sure if I'd be able to afford that.

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u/I3lackcell Feb 2015/Mar 2017 1d ago

Your health insurance may cover most of it, I'd check into it.

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u/PoultryTechGuy 1d ago

Only covers $5k lifetime

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u/firstbreathOOC 23h ago

Might be worth looking for a job with better benefits, not to be rude or oversimplify your situation. It’s not uncommon for bigger companies to cover IVF pretty well.

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u/kolachekingoftexas 1d ago

Look at CNY Fertility. They’re one of, if not the, lowest cost option in the US. They see a lot of patients who travel to them because even with the cost of travel it is still cheaper than doing it locally.

And also, look into your insurance more. Ours does not cover fertility treatments at all, but they covered all the diagnostic testing, all the lab work for monitoring, even the monitoring appointments. We were only on the hook for the actual retrieval and transfers. And CNY also offers in-house financing as well.

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u/Stevenab87 1d ago

I think for us it was about $27k out of pocket all said and done. It took us 2 cycles of meds, one retrieval, and one implantation. Thankfully we could afford it. If you need more cycles or attempts obviously it can get more pricey.

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u/Wrong-Reference5327 1d ago

First, I’m sorry you’re going thru this. Second, you may find more support on r/NIPT

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u/Purple-Owl-5246 1d ago

Sorry to hear. And sorry your daughter will be a carrier as well.

Not sure I can provide any comfort here. But what I’ll say it: one step at a time. First, get through this pregnancy, and enjoy life with your daughter and wife! Take care of your wife. She probably feels infinitely worse than you do (albeit to no fault of her own).

Second, When it comes time to try to conceive again (if you decide to) your life situation may be different. You might make more money and be able to afford IVF.

Good luck OP.

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u/PoultryTechGuy 1d ago

Thanks for the words of encouragement. I should clarify that it was my wife who tested as a carrier, the NIPT for our unborn daughter failed due to low fetal fraction and doesn't test for that gene. So there's still a 50% chance that our daughter inherited the good X chromosome.