Edward
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Eddie, who is now 10, is our middle child of three boys, with an older brother Austin (12) and younger brother Isaac (6).
Eddie was born in August 2012, in a regional city in Australia.
He has a smile that lights up the room, and a very cheeky nature, he adores his family, his special blanket and puppy comforter, riding his tricycle with our help, loves hot chips, puppy dogs, swimming, fire, music, pool covers, attending school and doors.
Our journey to discovering that Ed had a de novo heterozygous missense variant in one of his GRIA3 DNA base pairs began when Ed was just a few weeks of age.
He was incredibly hypotonic (floppy) and after initially being told he was just developing a little slower than our older son, a paediatrician visit when he was eight weeks of age found us at the Royal Children’s hospital in Melbourne with a neurologist the next day.
It was evident then that there was a potential genetic condition, however despite multiple MRI’s, a muscle biopsy, many blood tests and the available DNA tests at that time, no clear answers were found.
Whilst we had no answers, we were incredibly grateful that Eddie continued to ever so slowly achieve milestones with the help of our speech pathologists, occupational therapists and physiotherapists (including both his parents being physios).
The early years were difficult, we struggled with weight gain, managed nasogastric feeding for some months, and worried about what may happen.
Gradually Eddie’s strength continued to improve. He first sat independently at 18 months, and first walked independently at 4 and a half years old.
It was April 2022 when we received the news of Eddie’s GRIA3 neurodevelopmental syndrome diagnosis.
When reading through the symptoms we ticked nearly every box of autism level III, sleep difficulties, hypotonia, low muscle bulk and intellectual disability, however as yet Eddie has not had any seizures.
His communication remains our greatest challenge, and we use a combination of AAC, pictures, gestures and his favourite few signs and words. It can be heartbreaking when he is so frustrated and we cannot determine what he is trying to tell us.
We are incredibly grateful though that Eddie continues to surprise and amaze us every day.
He has a determination to communicate and to achieve goals important to him that never fades.
Our journey through this process and with our gorgeous Eddie has taught, and continues to teach us all so much. His joy in the everyday is something we always treasure.
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