Bella’s Story

By: Katie, Parent of Bella, a 3 year old with an SCN1B and SCN2A genetic change

What is your family like?

I am Katie, mummy to Bella. Myself and Bella’s nanny have SCN1B without any presentation. Bella has SCN1B and SCN2A; it’s hard to sometimes pinpoint what gene causes what.

What do you do for fun?

Bella loves music, being out in her adapted buggy for walks, and seeing family.

Tell us about the biggest hardship you face.

Seizures are not well controlled and the lump in your throat is always there ready and scared.

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

Why does the same gene mutation in SCN1B affect family members so differently?

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

SCN1B is NOT just febrile seizures.

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

There is a high probability with this gene your child can outgrow the seizures. You’ve got this!