Friday, February 3, 2023

Trisomy 8 Mosaicism

December 2015 we found out about J's T8M diagnosis.  His percentage is 40% T8M and 60% normal.

Two very comprehensive websites to read through for more information are:



Jax's main symptoms/signs:
Intellectual disability
Broad nasal tip
Deep palmar & planter creases (hands and feet)
Hydronephrosis (Dilation of the renal pelvi - This presented when I was pregnant and went away as he grew)
Agenesis of the Corpus Callosum
High palate
Tall stature

From a young age, due to the ACC, we had J seeing a multi professional infant team at the Children's Hospital.

This consisted of individual Paediatrician appointments.  Then multi professional infant team appointments with a Speech Pathologist, Physiotherapist and Occupational Therapist.

This was able to continue until J was 18 months old.  Then I had to fight to get him seen at CDS (Child Development Services), this gap in services was beyond frustrating as a parent.

The main issues that presented themselves very early on were:
Speech delay
Gross motor and fine motor delays

During that gap in services, I was able to attend a speech program called the Hanen program which really helped me learn how best to engage with J and give him the opportunity to speak.  The main thing I remember is OWL.  
Observe.  Wait.  Listen.

Give your child a chance to talk.  Don't jump in over the top of them, even though you're trying to help.  I didn't realise how much I was jumping in until we were recorded, and I was able to watch that footage back.  The progress we made during the 6-week program was phenomenal.  This was in 2017 so J was almost 3.

We then had another gap in services where I ended up back at our GP and asked for a chronic health care plan.  This allowed us to access subsidised speech therapy as this was J's most obvious challenge.  He was able to access speech appointments whilst at childcare.  I had applied for a NDIS (National Disability Insurance Scheme) plan for him, to allow us to access more consistent therapy as well as more options of therapy.  

J has had swimming lessons since he was a baby with a short break due to recurrent ear infections.  This has been incredibly helpful for him gross motor wise.  The number of times I have cried happy tears at swimming lessons, I've lost count.  His swimming teacher actually encouraged me to write this blog and gave me another gentle push in 2023 which is what I needed to get typing.  So, thank you Miss J, Miss K, Miss E & Mr D.  We love and appreciate you all SO MUCH!



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