Kamloops family realizes gravity of rare neurological disorder in 21-month-old daughter

Rare disease needs attention

Kamloops locals, Amanda Burritt, Jamie Shingleton and baby girl Emma, have experienced a hard road for the beginning of Emma’s life and, with a recent neurological diagnosis, it will continue to be an uphill battle.

Emma was born in June 2019. Burritt said she noticed after six months her daughter started to fall behind in terms of development milestones.

At around eight months, Burritt started to worry that Emma wasn’t just a calm baby, but that something was wrong.

“By 10 months old, Emma was still unable to sit unassisted, wasn’t crawling and couldn’t track objects consistently,” Burritt told Castanet Kamloops. “At that point I contacted the Children’s Therapy Centre in Kamloops and self referred her to get more assistance in catching her up.”

After therapy, Emma was progressing better, but still not quite at the level she should be. Though the doctors ran tests, no one could pinpoint what exactly was going on.

The only thing they knew for certain was that Emma was blind.

After multiple rounds of intense therapy, Emma was diagnosed on Feb. 26.

“Emma was diagnosed with KAND [kif1a associated neurological disorder] a rare neurodegenerative disorder that is considered to be progressive. There are only 300 known cases world-wide, with only eight families in all of Canada affected,” Burritt said.

Because the disease is so rare, little research exists. Once Burritt and Shingleton found out about the illness, they joined a Facebook group and got familiar with kif1a.org as well.

Through the organization, Burritt has been able to connect with others who understand her situation, and while the disease impacts every individual differently, at least there is some common ground.

“There’s a very good support group through the Kif1a organization and it’s been very helpful in finding all of these people that can relate to us,” Burritt said.

At this time, there is very little information available about the disease, so Burritt doesn't have much to go on when it comes to trying to help her daughter.

“It’s still very fresh, so we’re taking it day by day,” she said. “It’s definitely a hard pill to swallow. Getting a diagnosis like this and not having a lot of research to go by and to see what Emma’s future could look like.”

The last bout of intense therapy had Emma doing it 45 minutes a day for a month in Vancouver. Burritt and Shingleton will be heading to Calgary for another round of therapy that will last two weeks.

The Kif1a organization was created by a parents whose children have been affected in order to explain the disease and raise money for research.

“We are very new to all of this but would like to do our part in helping find a treatment or cure,” said Burritt.

“I’m just trying to spread awareness about this disease and organization.”

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