Mothers of a child with a genetic disorder

amother

↑ Chicory ↓

Thu, May 16 2024, 8:02 am

amother Fern wrote:

Who is Chaim Jalas? What does he do?

I will reach out to Dor Yeshorim, that's an excellent idea. https://doryeshorim.org/our-philosophy/ Just reading about their philosophy makes me feel understood.
Yes, I had spoken to someone at Bonei Olam already and his approach was "knowledge is power", but I don't agree and really think it's much more complex than that. Dor Yeshorim explains the psychological and cultural ramifications here very clearly.

Now the question is, do they take the same approach for a dominant carrier, or just regarding recessive carrier, which is the only things they test for.

Interesting. This will definitely be a long and ongoing discussion, but thanks for giving me a place to start..

The hardest part right now is the crippling anxiety this is causing me. I feel guilty, I'm having a hard time bonding with the baby cuz I kind of feel like it's his fault, I look at my other kids and watch cynically as they laugh and play happily, blissfully unaware that their futures have been potentially destroyed, I feel like a charlatan with my friends because I can't even discuss this with them and it's weighing so heavily on me.... It's a disaster. And I think further genetic testing is only going to make it worse.
I guess I'm also postpartum and hormonal and dealing with my baby's symptoms and diagnosis, so even without this hanging over my head I'm already drowning.

I'm thankful for imamother that gives me the opportunity to get support in this anonymous way.

Take a deep breath lady. Another one now. Chaim landau in bonei olam is obn…. Not such a nice guy but brilliant and helpful.
Then you did not ruin anything quite the contrary… you saved them from feeling how you do today
With the baby I understand. Just fill his or her needs and the feelings wil follow
Now your friends how can you be sure none of them are on here
All my love and respect.. I’m here if you need

amother

↑ Lavender ↓

Thu, May 16 2024, 9:19 am

amother Fern wrote:

Loads of hugs. We found out with our second, and my older dd is potentially a carrier. It's a heavy burden for us to carry for her, and I think about it often. We will give her the option to test at 18, and in the event she's a carrier, the choice to pgd will be hers (and her husbands).
I think part of the discussion needs to be the severity of the disease and its ramifications. Also potential treatments that are available. Each disease is different.

I totally get the loneliness. There is so much stigma surrounding genetics still so not many people talk about it. But I think things are changing very slowly.

amother

Candycane

Thu, May 16 2024, 9:30 am

B"H we don't have a child with any genetic disease or relative, but we recently checked Dor Yeshorim for one of our children who was suggested a really fantastic Shidduch - it was actually the first time that everything sounded amazing. And then Dor Yeshorim called to say the shidduch was incompatible. I was shocked - it's not our first child in shidduchim. The person who called was so kind and sensitive and told us if we need to speak we are welcome to phone back and talk to her. It just gave me a really strong appreciation that such an organization exists and the amount of research that has gone into eliminating some of the most common serious genetic diseases. Hopefully more research will help everyone. Wishing all of you a lot of strength, and may Moshiach come soon and heal all the cholim.

amother

Magnolia

Thu, May 16 2024, 12:30 pm

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!

My Dc was suspected of having a genetic issue. Our Rebbe told us not to test at all.

SDmother

Thu, May 16 2024, 1:39 pm

amother Fern wrote:

You can PM me. I am dealing with a newborn with a potential genetic disorder and also full of anxiety

amother

Jetblack ↓

Thu, May 16 2024, 2:44 pm

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?

amother

↑ Chicory ↓

Thu, May 16 2024, 2:48 pm

amother White wrote:

I’m so sorry to all you imas dealing with this.

Hope my question doesn’t come across as insensitive. I can’t wrap my head around the secrecy of it all.

Why can’t you confide in a friend or 2? The plan is to keep it a secret until 120?

I have a friend who is vaguely aware. But my parents for example are not aware (we got a psak) and when my son was in shidduchim they could not understand what on earth we were doing… it’s a challenge.
In. My case it is clear that one of my kids is impaired but the other two are brilliant talented gorgeous stars. So nobody knows and nobody will understand even if I tell them

amother

Purple ↓

Thu, May 16 2024, 4:41 pm

amother Jetblack wrote:

There is a family in the city where I live. All their children (all girls) have ectodermal dysplasia. They don`t have males in the family. they inherited it from their father. Is it similar to your condition?

amother

↑ Jetblack ↓

Thu, May 16 2024, 5:01 pm

amother Purple wrote:

I saw in an article about this disorder that it likened to ectodermal dysplasia, but this is X-linked so only passed on from mothers. And I do have one son. The way it works (in my most simplified understanding) is that I have a 50% chance of passing it, depending on which X chromosome a fetus receives. A female who gets the "bad" X survives, because she has another X from her father. A male who gets the affected X, and has no other X, is missing critical genetic material and cannot survive. Statistically I should have been able to have more boys, only losing 50% of pregnancies with boys, but it didn't work out that way. I lost 7 boys. I know from genetic testing of tissue after my (late) miscarriages that they were all male with this disorder.

amother

Bisque

Thu, May 16 2024, 5:17 pm

amother Fern wrote:

Firstly Mazel Tov on your newborn.
It must be so hard to be thrown into a whole new world.
We recently found out that a relative has a child with a genetic disorder and were let know about it so we can test. However after consulting with our Rabbi we were told not to test as we bh so far have 3 healthy children and anyhow no organization would help us with IVF if need be.
I’m torn as we were told not to do anything but like someone said “knowledge is power” and I’m not a put my head in the sand kind of person. I can’t go behind my husbands back and get tested either…

amother

↑ Purple

Thu, May 16 2024, 6:11 pm

amother Jetblack wrote:

Wow. Fascinating! Just curious, do you look similar to people with ED? I.e. brittle hair, nails, teeth, lack of pigment in skin, hair and eyes?

amother

↑ Jetblack

Thu, May 16 2024, 7:29 pm

amother Purple wrote:

Wow. Fascinating! Just curious, do you look similar to people with ED? I.e. brittle hair, nails, teeth, lack of pigment in skin, hair and eyes?

I don't know what people with ED look like but this is definitely a disorder that can affect skin, teeth, nails, hair and eyes -- as well as nervous system and a few other things I don't recall. It's a wide range of possible presentations that vary widely. The common theme is that newborn breaks out in horrendous blisters all over that last for months.

Nobody would be able to identify that I have a disorder by looking at me. I have very brittle nails, but so do lots of people. And I am missing quite a few teeth but I have bridges and implants so all you see is a perfect smile. Nothing with skin or eyes or hair. One of my daughters has same presentation I do. Another has a lot of birthmarks on legs like my mom, but nothing else. Another absolutely nothing I can see at all, but I know she has it because she had the blisters when she was born.

amother

Nemesia

Thu, Nov 07 2024, 1:47 pm

amother OP wrote:

Just feeling really lonely today. Nobody else knows the diagnosis except my husband and a few medical professionals, not even all of them. Give me a shoutout if you can relate.

Hi,
Hope it’s ok to bump this up. Just got an official diagnosis for my five month old. It’s a shock and isolating - as you said.

On one hand, we’re not shocked because we’ve been dealing with these things for the past few months. On the other hand, it gives the situation a seal/finality.

The definition of the disorder include three things we already see and the therapists/practitioners consistently say - it’s all about presentation and what we do with it. And we are doing the best we can for our baby. Hoping things turn out mild.

We just want the best for our kids. This sure wasn’t our plan! When I see newborns developing well and everyone talking about ‘when he rolls, walks, goes to yeshiva’ etc, it hurts.

Just some thoughts, all over the place.
Anyone in this kind of situation can chime in. I would appreciate input.

Thanks.

amother

Bubblegum ↓

Thu, Nov 07 2024, 3:06 pm

amother Nemesia wrote:

The beginning can be really hard. But be’H with time and support, hopefully you’ll feel better (until the next snag hits and you start the acceptance process all over again…)

Do you have support irl? I found that speaking to moms in similar situations was/is very helpful for me. No one has our exact situation as dc has a super rare dx, but speaking to moms who shared same medical devices etc helped.

amother

↑ Lavender ↓

Thu, Nov 07 2024, 3:20 pm

amother Bubblegum wrote:

I will second this.

I joined fb when my dc with an ultra rare genetic disorder was born so that I could join the support group there. It was a lifesaver.

amother

↑ OP ↓

Thu, Nov 07 2024, 3:26 pm

amother Lavender wrote:

I will second this.

I joined fb when my dc with an ultra rare genetic disorder was born so that I could join the support group there. It was a lifesaver.

Same here. Facebook is practically the only place to find information about my child's condition.
Just remember that support groups skew towards the more severe end . And on a Facebook group with many people you're going to see all of the worst. So don't panic.
My child's condition is mainly hereditary. So I remember that many of the kids are pretty severe, their parents who have the same disorder and are posting or not. Helps keep perspective.

ETA: totally forgot I'm op of this thread. It's always hard but it gets much better. I learned to share more in an appropriate way so that helps.