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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

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1 reply

momofthreex · 02/07/2023 02:50

Hey guys
My ds is 2.5 years old - we were recently called for meeting in his nursery where they discussed some observations & asked for ours. Eventually they got to the end telling us they think he is delayed & want to refer him to speech & language therapist as well as paediatrician.

My ds is pretty sociable, is happy to attend pretty much any setting with me.
He walked at 10 months, all his teeth by 12 months. I did think something was off as he didn't say anything by 1.5 years but he slowly started improving and nursery did not seem concerned when I would bring it up.

I started doing flash cards with him & reading more books encouraging him to name nouns and slowly his speech started developing. Fast forward to today my son shows a keep interest almost obsessive tbh in alphabet, numbers, planets & shapes and colours. He loves to watch YouTube videos on this, he doesn't necessarily sit and watch them he will be still for a bit but soon get up & play around the room however he does love them on in the background, and tantrums if I take them off - he is able to read sight words & can count and name all numbers up to 100! However when reading a story or looking at a picture he can only name nouns and not what is actually happening (verbs) he does not hold or initiate conversation & instead uses learned phrases to communicate for example if he hurts himself he will come to me & say 'you okay' he will then answer himself 'where's your ouchies' then reply again 'ouchie... then names whatever body part he hurt' (as this is what I would usually say to him) he can't adapt his speech, I have very recently heard him making his own sentences such as 'mummy in bed' if he wants me to lay with him & does say things like 'more food' if he wants more but more time than not he uses only 1 word to communicate such as 'water' 'yogurt' to let me know what he wants. I have written down things like 'I want water please mummy' etc as he likes reading to try and expand his sentences which has kind of worked but only been doing it for a few days.

He plays alongside children in nursery (he only goes twice a week) not with them but he is happy to play with older children. I feel this has something to do with them being more patient than children his age.

The wait time for a speech & language therapist is 5 months & for paediatrician is 12-18 months. I'm losing my mind trying to help my beautiful boy! We are looking to go private while waiting however has anyone experienced anything similar with their kids?
I'd love some advice or shared experiences!

Please feel free to ask any questions as I'm worried sick, constantly on google searching what could be happening.

OP posts:
SiouxsieSiouxStiletto · 19/08/2023 08:35

I'm so sorry that you haven't had any replies on this before @momofthreex.

I think that it's really good that he's on the waiting lists already. They can be long but the sooner you're on them, the sooner you get seen. The Nursery sound supportive and proactive, which is exactly what you need.

Has he been referred for a hearing test as well as SLaT? If not, I'd ask your HV to refer him for one. The SLT will want him to have had a hearing test.

Does he have an ECHP? If not, I'm sure that someone in the SN Children Section can advise you on applying for one Flowers

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