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Forum
-> Children's Health
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
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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