Mothers of a child with a genetic disorder

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Forum -> Children's Health

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amother

Lavender

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

amother

Eggshell

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.

Crookshanks

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."

amother

Caramel

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.

amother

Chicory

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.

amother

Topaz

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

amother

Chicory

Fri, May 05 2023, 4:26 pm

amother Caramel wrote:

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

613mitzvahgirl

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 🥹

amother

Brickred

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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