Vancouver child fights rare CASK gene disorder

VANCOUVER (CityNews) — It’s a disorder that was only recently discovered, and a little girl from Vancouver is doing everything she can to fight it.

Four-year-old Alice has a CASK Gene disorder, which impacts an important gene in her brain development. Alice is also on the spectrum.

“All aspects of her life are affected, basically, from feeding to the ability to sleep, and her development is not like…other children, so [the] public system is not meeting our needs. The ability to chew, and improve her balance coordination, for her it’s extremely difficult to find balance, and to learn to walk due to this. So, there are a lot of areas not covered by the public system,” her mother, Roxanne Borisov tells CityNews.

https://twitter.com/riarenouf/status/1443013490369720320

Borisov noticed a difference in Alice’s development in her first year, so she began taking steps to figure out what was happening. By the time Alice was 20 months, Borisov says the family received a heartbreaking diagnosis.

What is a CASK Gene disorder?

The CASK gene was discovered before any CASK-specific clinical syndrome was identified, so, according to the CASK Gene Foundation, there is no “CASK Syndrome” or “clinical diagnosis” for CASK. The gene was first discovered in 2008, and a diagnosis can only be done through genetic testing. While there are some treatment options available in B.C., they are quite limited. Borisov would have been able to participate in a consultative program, as opposed to actual therapy.

“What usually works well for other children with delays, does not work for our CASK kids due to a unique developmental pattern associated with the disorder and the need for intensive intervention targeting the right areas in the right manner in order to establish a connection in the brain and trigger neuroplasticity,” she explains.

Kristina Hone is the founder of The CASK Gene Foundation and says ultimately, the more immersive the child’s therapy is, the better the chance of a good outcome.

“For a lot of the other families that we’ve known, the more intensive the programs are, the greater the benefit. What we find is, if you push these kids really hard for eight hours a day, for a week or two or three or four in a row, the theory I guess is that it makes new pathways in the brain that they can access afterwards when they get home,” she says.

Hone says it’s also common for some families to move closer to places that provide more immersive treatments.

Alice was around 1 yr old when her mother, Roxanne, noticed something wasn’t right. Alice was 20 months old when diagnosed w/the CASK Gene disorder. “The ability to chew…improve her balance co-ordination…it’s extremely difficult to find balance, and to learn to walk.” pic.twitter.com/q3HZoEXvau

— Ria Renouf (@riarenouf) September 29, 2021

In the meantime, Borisov is hoping to get Alice into an intensive program at Virgina Tech’s Neuromotor Research Clinic. It’s expected to cost $38,000 and is paid for out of pocket.

“In B.C., there are no intensive treatments at all for children with similar conditions. And so all the other parents who are here with other similar conditions, they usually have to travel to the U.S. to one of these centres,” Borisov explains.

The family has been fundraising to try and get Alice into the program through GoFundMe and a Return-It Express Bottle Drive, and they will also be holding a walk-a-thon on Oct. 9 at Granville Island Waterpark.

Ultimately, Borisov says their family is grateful for all of the support they’ve received from the community and notes the experience with their daughter has made them stronger.

“We experienced enormous support. So, please don’t be desperate. Reach out to others. Search for answers to your child’s condition. Don’t assume just what the doctors say. Don’t assume there is no hope.”