and now i cant stop thinking about it!

My daughter has some physical and intellectual problems, but is as yet undiagnosed.
She is currently undergoing some testing, but today my dad told me that sometimes when he looks at her, he thinks she has the features of downs syndrome children.

I have often thought myself, (which is weird, because, if she did have it, i would see that ALL the time), but its not all the time. Just every now and then i'll look at her and think "hmm, maybe thats it" but then brush it off.

I even once asked my best friend for a super honest answer to "do you think xxx has any odd features?" and she just replied "xxx is beautiful".

Of course i know she is, but it wasnt exactly a straight answer, and then my dad saying the same thing, now i cant stop thinking about it.

She has had some genetic testing done, if she had downs, that would have shown up in the initial tests right? Or do they have to specifically test for it?
Im so confused and tired, i dont even know if her problems even match symptoms of DS.

I don't know if they test for Downs as part of the genetic testing, but I wanted to give you a big hug. Waiting for testing results is horrible.

sandi

I have a friend whose daughter was diagnosed at 8 wuth mosaic downs syndrome.

She has some of the features but not all.

Not sure if it is a specific test or not though?

If she has had genetic testing done, I would have expected that Down would have been ruled out with the basic testing. You need to talk to the person who ordered the testing and see if mosiac was ruled out.

It's hard isn't it?

In my experience, Down Syndrome is usually in the first round of genetic testing, unless there is a familial or symptomatic reason to test for something specific. You would really need to talk to the person that ordered the original tests and find out what was tested for etc.

That said, I know that medically there a form of mosaicism where the gene tests done via blood aren't always accurate. It sounds really bizarre but I was talking to some very reputable geneticists recently who were telling me about instances doing familial research into genetic conditions and in some (albeit very rare) cases, the gene change wasn't detected via blood but it was picked up in a DNA sample taken from a cheek swab etc.

That said... I seriously doubt that it is an every day occurance... I know that the instance that they had personally experienced was being written about for a medical journal... and also they are not Australian based...

Unfortunately there are hundreds of thousands of genetic conditions and some of them are extremely hard to diagnose and/or test for... diagnosis for genetics can be a very long and drawn out process.

I am sorry you are on this path and I hope you find some answers soon.