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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

To ask for blood test?

6 replies

DaniFar · 31/05/2023 12:48

Hi all,

My son was diagnosed with a rare genetic disorder in March. It causes developmental delay, mind intellectual disability and autistic traits (as well as other symptoms)

However before we found out we had a baby, she's 7 months old and seems delayed. She's not sitting up and her head isn't totally steady.

She was born at 36w 4d and I know all babies develop differently and some take longer than others but I want to know if she has the same disorder at least that way we know and can accommodate it instead of worrying about it all the time but I don't know

What should I do?

OP posts:
TheoreticalRefusal · 31/05/2023 12:49

Ask to be referred for genetic testing - it seems reasonable in the circumstances.

stripess · 31/05/2023 12:50

Definitely chat to your HCP, but worth bearing in mind some genetic conditions are not inherited. They'll be able to refer you to genomic counselling if appropriate Flowers

stripess · 31/05/2023 12:51

At the time of your DS diagnosis did they ask about other children or whether you were planning on having more?

Crunchymum · 31/05/2023 12:54

Are you under a geneticist?

Can your sons specialist refer you?

DaniFar · 31/05/2023 13:10

We have an appointment with the geneticist on the 19th, can we ask then?

I know she might not have it and could just be developing a little slower within a normal range but it's so worrying and I think I'd rather just know.

OP posts:
Giselletheunicorn · 31/05/2023 18:37

Personally, I'm your shoes, I'd ask for testing. I remember while we were waiting for our son's ASD diagnosis, the waiting and not-knowing was tortuous and worse than getting the diagnosis.

I hope all is well. Flowers

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