Like her older siblings, Summer has learnt to crawl and walk. But unlike them, any developmental milestone she gains she will eventually lose.

Summer, 3, has the rare disease KIF1A-Associated Neurological Disorder that affects the brain, muscles and nerves.

She has been crawling for almost a year and while she can walk, it’s only for a few steps at a time unaided.

Image: Summer with her custom walker

Mum Jeanette said Summer’s initial diagnosis was global developmental delay, but she was certain there was something more.

“We were concerned about Summer’s early milestones as she wasn’t crawling until about 16 months old and she had a habit of bumping into objects and leaving bruises on her forehead,” she said.

Image: Summer as a baby

“While Summer’s early brain scans came back normal, it did show an issue with her optic nerve. An eye scan later confirmed optic nerve atrophy, which has greatly affected Summer’s vision.”

Summer was referred for genetic and metabolic testing, which involved a difficult almost year long wait for results to return from the US.

“It was devastating when Summer was eventually diagnosed with KIF1A-Associated Neurological Disorder, which only impacts about 23 people in Australia. The serious disease means Summer will go backwards and lose key physical and mental skills she has gained.”

After taking time to process the diagnosis, Jeanette and her family joined an international support group through KIF1A.org and explored current treatment options.

Image: Summer with mum Jeanette

“We sought out a range of treatments and found out that some experimental, highly invasive overseas options cost around $2 million, which we simply didn’t have,” she said.

“Learning that Murdoch Children’s Research Institute’s (MCRI) was working towards therapies right here in Australia helped galvanise me to start a foundation with my husband David.”

Image: Jeanette and David with their children Jasmine (far left), Summer (front) and Tyson (right).

The family launched the KIF1A Australia Foundation in May 2024 and donated an initial $10,000 towards MCRI’s KIF1A research.

“Our family-owned building company helps support the foundation, with an aim to both fund future breakthroughs and build a high-tech, inclusive school for children with complex needs,” Jeanette said.

Despite the many challenges that come with KIF1A, Jeanette said Summer was adored by her siblings and remained a happy, affectionate child.

“It can be isolating when your child has an extremely rare disease, but any time we get with Summer is a blessing, she reminds us every day that life is still fun and joyful,” she said.

“I sincerely hope that one day there is a treatment that can control or even reverse KIF1A symptoms and the developmental regression, not just for Summer but every child in the world with this disease.”

Find out more about MCRI’s KIF1A research and the KIF1A Australia Foundation. You can also donate directly to MCRI.