Meet the Other Phone. Protection built in.

Meet the Other Phone.
Protection built in.

Buy now

Please or to access all these features

Children's health

Mumsnet doesn't verify the qualifications of users. If you have medical concerns, please consult a healthcare professional.

Dd (7.5) needs genetic testing-how long does it take?

26 replies

Scareofgettingthiswrong · 16/12/2024 15:02

I found out last week that dd has the majority of the hallmarks for Fetal Valproate Syndrome. I was on Sodium Valproate for the first 8 weeks of pregnancy and she has all the facial markers and a lot of the congenital,
physical and mental symptoms.

I have been fighting for YEARS to get medical professionals to listen to me, particularly with regards to her hypotonia and ASD. We have finally been put on the waiting list for an autism diagnosis, and she has been referred for orthotics for her tiptoe walking. Other than that, everyone has basically said I’m being ridiculous.

Our GP is going to call me on the 13th January so that I can ask for a referral for genetic testing. What is the wait like after that? I particularly want help with her hypotonia as she falls a lot, is incredibly stiff in her movements, cannot walk far and regularly mentions pain in her legs. I just want someone to help her!

OP posts:
cestlavielife · 20/12/2024 09:52

Presume you missed typed here

"She does have to have cerebral palsy to have hypotonia!"

Should say ..does not...

Hypotonia can be from many different conditions
Hypermobility as well
Walking at two indicates hypotonia and or Hypermobility or other neuromuscular issue or indeed cp

But insist on OT or physio referral to assess her motor skills
See if you can self refer
Or book a private assessment
Or ask school to refer for assessment

The genetic diagnosis will only be one part as you can have xx diagnosis and different outcomes .... It s the individual and their symptoms you need to address.

New posts on this thread. Refresh page