Brixyn’s Story

By: Paige Johnston, Parent of Brixyn , a 2 year old with a CASK genetic change

What is your family like?

We have a very large, very supportive family both immediate and extended. We enjoy traveling and spending time with the people we love most.

What do you do for fun?

We like to do a little bit of everything, from hunting and fishing to riding four-wheelers and cooking out!

Tell us about the biggest hardship you face.

Communication barriers, Brixyn not being able to verbalize her wants and wishes or problems. It almost feels like a constant guessing game, or explaining game to others how to identify what she is wanting or needing.

What impacts your decision to participate or not participate in research?

We have just not gone out of our way to participate, but we would be willing or interested if the opportunity came up.

What is one question you wish researchers could answer about this genetic change?

If there is anything that “triggers” it to mutate.

What have you learned about your or your child’s genetic condition from other families?

The CASK gene mutations have a VERY wide range of severity. Brixyn’s seems to be on the more mild end of that spectrum.

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?

We have had so much luck with progress from intensive therapy with Brixyn I recommend it to everyone. The younger the kiddo is the more neuroplasticity they have and can make big strides!