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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Genetic testing

3 replies

linn88 · 18/04/2023 19:19

Hi!
DS left blood tests for genetic testing in October 2022 and in January his neurologist called to say they found something but wasn’t sure it is relevant or not and that they wanted me and his dad to leave blood tests, which we did in January and haven’t heard anything since. Has anyone been through the same and is it likely they did find something relevant since they wanted us to leave tests as well?

DS is 3.4 months and he is non-verbal, short, has severe myopia, has needed hospital treatment for ketotic hypoglycemia two times.

It’s so hard not knowing what to expect…

OP posts:
SiouxsieSiouxStiletto · 22/04/2023 09:32

We're just beginning the genetic testing so sorry I can't be of any help @linn88 Flowers

linn88 · 22/04/2023 11:24

Thanks for answering anyway @SiouxsieSiouxStiletto 🌻 what are the symptoms of your son/daughter?

OP posts:
SiouxsieSiouxStiletto · 22/04/2023 11:53

She was non-verbal until 3 and even now doesn't have any emotional language, fussy eating, meltdowns, I could go on.

The reason she's getting genetic testing is because my DS has a skin condition which could be caused by a gene deletion which can be associated with ASD & ADHD.

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