Elora, Ont. family raising awareness and funds for toddler with rare genetic disorder

A young girl from Elora, Ont. may never walk or talk, but her story is shining a light on a rare and degenerative disease. CTV’s Spencer Turcotte reports.

An Elora family is turning a devastating diagnosis into a mission to raise awareness and hope for other families living with rare diseases.

Two-year-old Lily Kalinowski was recently diagnosed with a mutation of the CASK gene, an ultra-rare neurological disorder that affects brain development. Fewer than 600 families worldwide are known to be living with the condition.

“There’s only a few hundred cases globally of this CASK mutation, so really it was quite scary,” said Lily’s father, Paul Kalinowski. “There was not a lot of information available. Most doctors and medical professionals will never have encountered this.”

The diagnosis came after months of testing and appointments with specialists. Doctors warned the family Lily may never walk or talk.

Amy Clifford, Lily’s mother, said while the uncertainty is difficult, the family chooses to focus on their daughter’s progress.

“We try our best to focus on how amazing she is. She is such a ray of sunshine,” Clifford said. “But the fear, the devastation of the diagnosis, it never goes away.”

Lily already faces hearing and balance challenges, and because CASK can be progressive, her family said she could also develop seizures later in life.

To give Lily the best chance to reach developmental milestones, she undergoes intensive physiotherapy, occupational therapy and speech therapy.

Those treatments, however, come at a significant cost.

“With the type of therapy that we’ve been working through, it has been north of $100,000 per year,” Kalinowski said.

The family said many of the specialized therapies required for children with CASK are not publicly funded because of the condition’s rarity, forcing them to rely on community support.

In May, friends, neighbours and local businesses rallied behind the family during a fundraising event in Elora. They have also launched an online fundraiser called Help Lily Bloom, which supports Lily’s therapy while also contributing to research into potential treatments and a future cure for CASK. The fundraiser has raised more than $105,000 toward its $500,000 goal.

“We’ve got a purpose and a path forward that can give the best life for our girl,” Kalinowski said. “We’re enjoying every day and every hour and every minute that we get with Lily.”

While doctors initially marked Lily’s future by the challenges she may face, her parents say they’re choosing to measure it by the possibilities ahead, celebrating every new milestone and hoping their daughter’s story helps shed some light on a condition few people have ever heard of.