The Hoyrups’ Journey with CTNNB1-related syndrome

What is your family like?

We learn to live with Elsa and her condition. We have to maintain rituals and give attention to Elsa’s needs. Life can be nice but also very hard. Elsa is a joyful child with a strong character.

What do you do for fun?

Always repeat the same sentences the whole day and say hello to all the people we meet!

Tell us about the biggest hardship you face.

For many years, Elsa could not sleep longer than 5 hours at night. Nothing has helped.

What motivates you to participate in research? How has participating in research been helpful for you?

Not feeling alone and try to help the research with our experience.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

I fill in each survey and I wish all families would do the same.

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

Are you working with CTNNB1 Foundation in Slovenia?

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

A lot of children have the same symptoms and issues.

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

Get a multi-professional team of therapists.

How has Simons Searchlight served as a resource for you and your family?

We got the feeling that we are not alone.