Mothers of a child with a genetic disorder

Kangaroo3

Sun, Nov 17 2024, 2:58 am

amother Jetblack wrote:

I have Incontinentia Pigmenti. I passed it on to my daughters. And miscarried 7 males because of it.

As far as genetic disorders go, it isn't the worst to have, but it certainly has its challenges.

We had IF for many years and were doing IVF. We did genetic testing with the hopes this disorder would go no further than me. But none of our IVF attempts worked out. Eventually I just got pregnant on my own (and then again, again, again, again.....) which is amazing, but the disorder was passed on. I know there is no "fault" involved but I still feel very badly about it.

P.S... I've never come across anyone else with this diagnosis. It's rare. Curious if anyone here has same?

It seems my daughter likely has this incontinentia pigmenti - would love to speak thanks

amother

Cream ↓

Sun, Nov 17 2024, 8:07 am

amother Fern wrote:

Does your married child know about it?

My 8th child was just born with a genetic disorder. They did bloodwork when he was born and genetic counselors told us based on his karyotype there's reason to believe he inherited it from us and if so then some of our other children may be nonsymptomatic carriers of it too (meaning if they are carriers their chance of having a child with the same disorder are pretty high).
It's so so lonely and uncertain. My oldest is not marriageable age yet so we still have a few years to think about this (and I'm pretty sure I don't want any more kids now) but the ethics of should we do further testing (we don't know for certain if my husband or I are carriers, but it's possible), should we tell our children so they can choose to test themselves, how will this affect shiduchim, should we consult with our rav, (if the Rav knows and a shiduch reference calls him is he required to disclose it?) or should we just go to the grave with this as a secret... It's just heart wrenching, crushing and crippling. Every time I think about it I get so depressed and anxious I can't function.

If we had stopped at 7 kids we never would have even had this baby and we never would have even found out about all this. There's a chance even a child of ours who is a carrier can blissfully and unawaredly have many healthy children. There's also a chance their first child would be born with the disorder and they would find out and be mad at us for not warning them. It's all chance and up to Hashem. But now that we know this, are we required to tell our children (and potential shiduch prospects) so they can do IVF with PGT and prevent this from spreading further? Are ppl better off knowing or not knowing this type of information?
Genetic testing is so full of moral and ethical questions. Once you crack open the can of worms it's just never ending.

If anyone knows of a Rav who is an expert in these particular matters whom I can speak to anonymously to get a better idea of the ethical ramifications of further testing, please post here. Thanks!

Mazal tov on your baby!
I realize this is a very challenging time for you. I also have a child with a genetic disorder, it's not hereditary though. I have heard from other mothers with sn children how they found out after their child was born that there was a hereditary component and their parents kept that knowledge from them. Please tell your children before they start to date. I can't believe you would even consider not telling them. That's absolutely wrong on so many levels and if they found out after they had their own child with the disorder, I can't imagine your relationship with them would survive. It's a huge betrayal not to share that kind of information. I know this is for the future because your children are still young but I want to strongly encourage you share with them. How is having grandkids with he same disorder not a heartbreaking thought ?

amother

↑ Lavender ↓

Sun, Nov 17 2024, 11:46 am

amother Cream wrote:

Mostly agree with this but a factor to consider is the severity of the disease and what treatments are available. Ideally the children should still be given the information so they can make their own decisions, but not everything that's hereditary is life threatening or even life limiting and so it makes a difference.

amother

Feverfew ↓

Sun, Nov 17 2024, 12:16 pm

amother Fern wrote:

I can relate to every word you said. In our case we did genetic testing on 1 child for something pretty random and found he's a carrier for something (that only takes one of the parents to give over). So we tested me and my husband and low and behold I also have the genetic mutation. My husband is a tzaddik (or naive) and didn't make a big deal. It's almost better that I am the carrier because I don't think I would have been so OK with it, not that we had any prior knowledge to even suspect it!) The carrier is not affected it could potentially affect the offspring though. Then we preceded to check the rest of the kids. I regret it. I now know my other kids that carry it. I wish we would have asked a shaila. I'm not sure what they would have said. I did ask if I should tell my siblings so they can check because it's likely someone else is a carrier too and I was told no. And based on that I really wonder what I would have been told if I asked if I need to check my other kids. I have not been able to bring myself to ask because the guilt would be awful if I tested them for nothing.
I have not told my kids yet. I need to speak to a rav first when they are ready for shidduchim, but I think now that I know I might need to tell them. I think before I knew, it was less of relying on a miracle, although even as a carrier the chance is not that high of passing on. It's equal to a 40-45 year old having a child with a genetic disorder, many have children at that age , so I will see what the psak is but I am preparing myself for possibly needing to go through a special shadchan to pair up with someone else who also needs IVF. I keep telling myself Hashems makes shidduchim and all I can do at this point is daven and rely on Hashem. And obviously get hadracha when the time comes which is approaching fast and I'm not ready! And I also feel horrible for my kids for the time when I have to tell them , how will they react? Will they keep it a secret? Will they be depressed? Other than the Drs that ran the tests and my dh obviously, no one knows. It's a burden for sure.

amother

↑ Lavender ↓

Sun, Nov 17 2024, 6:21 pm

amother Feverfew wrote:

Surprised they agreed to test your kids. We were told by drs that ethically it's best to wait until they're 18 and can consent to the testing on their own. And that most geneticists won't agree to run the tests unless there's a specific medical need.

amother

↑ Cream

Sun, Nov 17 2024, 7:17 pm

amother Feverfew wrote:

I'm really upset that your rav said not to tell your siblings. I'm at a loss for words here

amother

↑ Feverfew ↓

Sun, Nov 17 2024, 7:30 pm

amother Cream wrote:

I'm really upset that your rav said not to tell your siblings. I'm at a loss for words here

Honestly I'd rather not have known. So I'm glad my siblings don't need to know. I would have likely had more kids and hopefully not been affected. Once I knew I couldn't un-know it and since I already had kids I didn't have more. If I didn't have kids yet I would have had to decide whether or not I would do ivf with pgd or take my chances.

Statistically the chances are relatively low for it to affect the offspring. It's not like 50% or 25%.

Bli ayin hara.

As far as why the Dr tested without saying to wait until they are 18 I'm really not sure. He's frum. Not a genetic Dr, just a general dr. Maybe he thought he was doing me a favor. I actually wished he suggested it was a shaila and I would have had a chance to ask a Rav instead of me just telling him to test when I was in such a panic.

I don't think about it daily but when I do I really dread the whole shidduch thing. I hope mashiach comes real soon. (for many reasons but that is one of them!)