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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

What actually happens next?

4 replies

PinkDaydreams · 23/07/2020 12:15

Hello all!
My little boy is 2.6 years old, he’s waiting for a hearing test and SALT as he has no speech at all. The hv has referred him to a pediatrician regarding autism (he’s showing quite a few signs), he’s waiting for an appointment which I know will take a long time. Anyway, I’m wondering what actually happens please? I presume the pediatrician will see him and then refer him to the relevant person for an autism diagnosis? What happens after that though? I suppose I’m just wanting to know if there’s anything I can be doing to help him. What support will we get once a diagnosis is made?
Sorry if I sound ignorant, googling has thrown up all sorts.
Thank you! Smile

OP posts:
Trixtah · 20/09/2020 14:04

Hi, my daughter has a neurodevelopmental paediatrician appointment in a couple of weeks after being referred due to my concerns about her having autism. I'm not sure of the process after this appointment but I can let you know following our appointment. I've heard it can take years to get a diagnosis 🙁 My little girl was developing as normal then stopped talking at around 20 months, she bounces, climbs, squeels and flaps her arms a lot which all coincided with loss of speech.

Hehx3 · 05/10/2020 23:05

Hi, it has been few years back but for us after pediatrician appointment we had assesment given by specialist team of people that were looking at different things. After that we got dome leaflets and signed for Early Bird program for a training. There is a range of specialist after that OT SPL play therapy music therapy m however waiting lists were very long back then anyway. I have wasted too much time on it. If i could go back I would pay for private intervention. Think also about EHCP for school. Wishing all the best for you and your little ones.

PinkDaydreams · 12/12/2020 20:16

@Hehx3 @Trixtah I am so sorry that I've only just seen your replies!
Son is on the ASD pathway now, he's had many appointments and we are now awaiting diagnosis which could be within the next week or so or possibly got to go in for a face to face appointment.
I've been in contact with a couple of charities and have attended webinars to educate myself further which I have found useful.

OP posts:
mthrofflwr · 04/04/2023 15:22

@PinkDaydreams any updates on your LO

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