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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Genetic testing?

2 replies

Lionsmanez · 26/01/2024 12:03

Had my DS4’s first paediatrician appointment today - GP referred him as I’m worried he’s delayed developmentally, especially his mobility.

He didn’t walk until 18 months, still uses a pram as he gets tired easily, finds stairs difficult, can’t hop or jump properly and can’t stand on one leg. He can’t keep up with peers in his class, play football and generally has the gait of a 2 year old if that makes sense.

He also has sight and potentially hearing problems and a speech delay aswell as chronic constipation.

paediatrician checked his legs and arms, spend quite a while doing his reflexes in his legs, noticed he still got up from sitting down by using his hands on the floor. She referred to physio and wants genetic testing and will see her again in 6 months but hasn’t really said what she’s looking for?

OP posts:
CadyEastman · 29/01/2024 20:03

That must be worrying. Did they give you any opportunity to ask questions at all?

TooBusyGazingAtStarss · 26/04/2024 06:58

I think there are a lot of things they can look for in genetic testing. Get that out the way now if you can as results can take 6months to a year at the moment!

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