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Forum
-> Children's Health
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amother
Lavender
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 Fri, May 05 2023, 12:58 pm
| amother Viola wrote: | so how do you ever find out? seems like no symptoms.
can it be lets say a breathing problem? | It affects the blood and immune system
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amother
Eggshell
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Fri, May 05 2023, 1:55 pm
| amother Offwhite wrote: | | Can I ask how did you discover your child had a genetic disorder? |
My daughter was extremely delayed, had muscle tone issues. Doctor noticed some of her features and recommended genetic testing.
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Crookshanks
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Fri, May 05 2023, 3:36 pm
| amother Eggshell wrote: | | My daughter was extremely delayed, had muscle tone issues. Doctor noticed some of her features and recommended genetic testing. |
Some genetic conditions have very specific facial features. Kids with Sanfilippo syndrome, for example, look similar and are frequently called "Sanfilippo siblings."
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amother
Caramel
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Fri, May 05 2023, 3:41 pm
| Crookshanks wrote: | | Some genetic conditions have very specific facial features. Kids with Sanfilippo syndrome, for example, look similar and are frequently called "Sanfilippo siblings." |
Even with specific facial features it can take years to get a diagnosis. Some sanfalipo kids aren’t diagnosed until they are 5,6,7. I know a kid with waardenburg syndrome who never got a 100% confirmed dx through testing but they gave him the dx anyway because the symptoms and facial features are very specific and he matches all.
Genetic testing can be very complicated.
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amother
Chicory
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Fri, May 05 2023, 3:42 pm
| amother Offwhite wrote: | | Can I ask how did you discover your child had a genetic disorder? |
I’m assuming you have a niggling worry about one of your kids. Genes are literally the bodies blue print. Genetic differences/disorders// are differences in the blue print. They can range from relatively mild to extremely overwhelming.
In my case there are a range of symptoms that
Can present.
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amother
Topaz
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Fri, May 05 2023, 3:45 pm
You want to hear a beautiful song, titled “No one knows”
It's kol isha
845-351-9600 choice 6 and then 21
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amother
Chicory
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Fri, May 05 2023, 4:26 pm
| amother Caramel wrote: | Even with specific facial features it can take years to get a diagnosis. Some sanfalipo kids aren’t diagnosed until they are 5,6,7. I know a kid with waardenburg syndrome who never got a 100% confirmed dx through testing but they gave him the dx anyway because the symptoms and facial features are very specific and he matches all.
Genetic testing can be very complicated. |
It’s helpful to have a target ie an idea of symptoms that match a particular syndrome
We were blessed to have whole exome sequencing done. Not a chance it would have been found otherwise
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613mitzvahgirl
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Sun, May 14 2023, 12:03 pm
Hi.. I can totally relate.. my older one and my husband have a genetic disorder.. I have absolutely no one to ask or relate to.. I don’t talk to his family and even the dr said nobody talks about it Bc they are afraid for shidduchim.. this also gets me really upset.. hey Moshe Rabbeinu had a lisp, His father in law was a ger and look what came out of it..
the only one I turn to daily is HaShem Bc He’s the only one who truly understands how hard it is for me when He sees I have no family to turn too 🥹
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amother
Brickred
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Sun, May 14 2023, 12:10 pm
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I can’t personally relate. But there’s a long time poster who left years ago who had a child with an unnamed genetic disorder and it really took its toll on her. I think they finally got a name for it when the child was in elementary school.
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amother
Fern
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Wed, May 15 2024, 3:41 pm
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!
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amother
Chicory
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Wed, May 15 2024, 3:46 pm
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My son is the newly married (almost two years) of course he knows, his wife also carries something bh for PGDs they are expecting a baby!
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amother
Fern
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Wed, May 15 2024, 5:23 pm
| amother Chicory wrote: | | his wife also carries something bh for PGDs they are expecting a baby! |
That's an interesting point. Good to know! I really appreciate reading that as I process our new reality. 
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amother
Chicory
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Wed, May 15 2024, 5:31 pm
| amother Fern wrote: | | That's an interesting point. Good to know! I really appreciate reading that as I process our new reality. |
I would encourage you to keep posting on the forum. It’s a hard road to hoe on your own. I’m grateful that my beloved children will not suffer the catastrophic heck that we do, as the presentation of our syndrome is widely varied
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amother
Chicory
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Wed, May 15 2024, 5:34 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! |
In our case we have an intelligent and competent moreh derech- I carry it, it’s a dominant gene (yes I struggle with guilt)
We have followed his guidance. I’m grateful for that.
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amother
Mintgreen
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Wed, May 15 2024, 6:04 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! |
You seem to have a lot of confusion. Once you have clarity you will calm down. Get yourself and your husband tested so you know for sure what you are dealing with.
Call dor yesharim they can help you. They will keep your info and when a shidduch comes along (if it’s hereditary) they will run the test. The chances are low that your children will be incompatible. It’s a real bracha that we have all this science in our generation.
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amother
OP
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Wed, May 15 2024, 6:11 pm
| amother Mintgreen wrote: | You seem to have a lot of confusion. Once you have clarity you will calm down. Get yourself and your husband tested so you know for sure what you are dealing with.
Call dor yesharim they can help you. They will keep your info and when a shidduch comes along (if it’s hereditary) they will run the test. The chances are low that your children will be incompatible. It’s a real bracha that we have all this science in our generation. |
Dor Yeshorim only helps if the condition is recessive. Many conditions are dominant but with varied expressions. The only solution for that so far is IVF with pgt.
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amother
Hydrangea
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Wed, May 15 2024, 6:16 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! |
You can reach out to chaim jalas at bonei olam. He is an expert on genetics and a real tzaddik.
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amother
Lavender
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Wed, May 15 2024, 7:11 pm
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He's unreachable. I had better luck getting guidance from dor yeshorim and it wasn't a recessive gene. Did not have a good experience with Bonei Olams genetics "expert".
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amother
Fern
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Wed, May 15 2024, 8:51 pm
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.
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