Am I in denial

[Happyowl89]

Hi
My son is 2.5 years old. When he was 1 he had genetic screening (as did we) because he had delayed gross motor skills (sat at 8 months crawled at 12 months walked at 20 months). He also has epicanthal folds on one eye, a single palm crease on one hand, mild low tone and a flat nasal bridge.
All his genetic screening came back clear as did ours.

Fast forward to him being 2 years old he was discharged from the development team as the paediatrician said he was developing within normal range. However his speech is now delayed. He has hundreds of words and is starting to build 2-3 word sentences but his pronunciation is off and he gets frustrated at not being able to tell us exactly what he means a lot of the time.

He’s now 2.5 years old. We recently had him checked by ENT and they’ve recommended he has his adenoids and tonsils removed due to obstructive sleep apnea and recurrent tonsillitis.

Recently his behaviour has been poor; big tantrums, hitting out and scratching other children over toys.

He seems constantly tired, the ENT doctor said it’s likely because of his mouth breathing and snoring causing poor quality sleep but I’m wondering if it’s the low tone.

Sorry all this is a bit of a jumble. I’m just worried that there might be something genetic going on even though the tests came back clear. I’m aware of SWAN. I just wondered what other people think reading our situation.

At his 2 year check the HV said no concerns apart from could refer to speech and language therapy. He could do all the logic activities she gave him to do.

Two things that have compounded my concerns recently were a visit to a park where a random stranger told me about her daughters genetic condition and seemed very keen to share the info with me after seeing my son playing. Then a woman in Asda invited us to a soft play session for children with SEN after looking at my son who was lying in the pram feeling sorry for himself with tonsillitis.

I don’t know what to think anymore. My husband and I have been through such a tough time with various other things too.

Thanks

Anyone?

Didn't want to read and run even though I don't have any great advice for you. I would ask for testing again though.. only saying this as I have a son with a genetic syndrome and can spot a genetic syndrome kid a mile off now xxx

I’m going to PM you

How are you getting on now @Happyowl89?

Hi

My son has some similar dysmorphic features to your child as well as others and other medical issues and is currently going through whole genome testing.

It depends on the genetic screening you have already had done as these do not pick up on everything.

My son's genetic testing history is as follows:

2 days old - Karyotype (suspected Downs Syndrome) - came back negative - results took 2 weeks

5 years - genetic testing for a hearing loss panel (results took 6 months)

7 years old - genetic testing for Ehler Danlos Syndrome (results took 10 months)

7 years old - microarray (results took 10 months)

9 years old - genetic testing for Noonans syndrome/Rasopathies (results took 9 months)

10 years old - trio (mum, dad and son) Whole Genome sequencing for rare diseases focussing on dysmorphic features and Learning difficulties (still waiting for results and it's been 17 months).

We are also members of SWAN.