What We Know

My son is happy little guy that is always making progress on his own timeline.

Soon after birth we knew he was a little unique.

He never met any standard Ontario milestones. Around 6 months old when we went to look into a helmet for the shape of his head, the neurologist at CHEO noticed he liked to clench his fists.

From there we did multiple different types of genetic testing, his first MRI, metabolic testing and more.

Around 9 months old he was given the title of Global Developmentally Delayed, in all 5 areas.

His first MRI that took place around his first birthday showed that he had more white matter then he should for his age but the neurologists didn’t know what it meant or caused. He goes for his second MRI soon after his second birthday. Hopefully this will provide more answers or clues.

Thankfully, metabolic testing came back clean, but with no new information.

Genetic testing didn’t come back with any concrete answers but it didn’t come back with nothing. It looks like the X chromosome has some flags. He may, have HUWE1 chromosomal disorder but it’s not concrete. They are still looking into this.

The upcoming tests include an MRI and a lumbar puncture. Hopefully the next MRI will give some more clues as per what is going on.

The lumbar puncture will hopefully tell us if he has dystonia. He is showing some symptoms of it.

So at this point, there’s no concrete answers or diagnosis.

My sons uniqueness

– global developmental delay

– hypotonia

– fine and gross motor skill delays

– cognitive delays

– non-verbal

– vision delays

– HUWE1 Genetic Condition?

 

We hope to find out more information for my sons uniqueness, ways to help his progress and more children that are similar.

 

Below is a picture of his first MRI with the increased white matter.

 

S

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