Cure KIF1A Today

Meet Summer

A message from Summer’s family:

Summer was diagnosed with the kif1a gene (de novo) when she was just 2 years and 10 months old.

Summer has an older sister, Jasmine aged 7, a brother Tyson aged 4 and she is very loved. Mum realized after having 2 older children progressing and meeting their milestones that Summer was a little delayed. It was always a busy household and mum always felt that since Summer was the 3rd child, she would just catch up. It was never a concern… until it was.

It was hard to do anything with Summer, go anywhere, as any sounds- a dragging of a chair, a car revving, the sound of sticky tape- would set Summer off into a screaming frenzy.

Mum would stay home with Summer as dad took the older 2 out to live life and do “normal “things.

Summer started Occupation Therapy, Physiotherapy, Speech Therapy, Hyperbaric Oxygen Therapy at age 1 years old. We continue these therapies along with others including hippotherapy. Therapies everyday…. Except for Sundays.

Summer loves music, she loves to dance. She is not yet walking, but she has taken 2-3 steps recently before falling.

Summer has Optic Nerve Atrophy, Cortical Vision Impairment and is and non-verbal, although she is learning sign language and lets you know her likes and dislikes with distinctive sounds.

We call Summer a little Koala as she gives the best koala grip hugs and brings so much joy and love to everyone she meets.

We hope that a treatment or cure will be found soon so that Summers` quality of life is improved before she regresses. We love her too much to lose her and could never imagine not having her with us.

She completes our family in a quirky kind of way. We believe in miracles, and she is one.