By: Sergio, Parent of Olivia, an 8 year old with an SCN2A genetic change
“Be strong and always advocate for your kids.”
What is your child’s relationship like with his/her siblings?
Like all siblings, they fight and argue but cant live without each other when they are apart.
What does your family do for fun?
We like to go to the ocean and relax and walk around. We also like to bake on the weekend or go camping.
Tell us about the biggest hardship your family faces.
My daughter’s seizures have been the biggest hardship. Frustration has been the biggest given that her seizures were controlled to seizure freedom for a long time and then when they broke through, trying to find the right dose or medicine that will control them again.
What about your child puts a smile on your face?
Her stories. She has some stories that brighten your day when gloomy. They are cute and take you back to your childhood.
What motivates you to participate in research?
A cure eventually soon enough and until then effective treatments to control seizures until we find a cure which i think will happen soon.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
I feel that we are impacting the way that we are providing knowledge for the science community so that they can have the info they need for a cure.
What have you learned about your child’s condition from other families?
A LOT. I have learned how other kids have so many conditions from autism, epilepsy, intellectual disability, some with hardly any effects while some with severe effects.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Learn, research, ask, join the group for questions and guidance and push for a cure.
What is one question you wish researchers could answer about your child’s genetic change?
When can we get a cure? When can we get a specific targeting treatment based on my child’s mutation?
Is there anything else you would like to share with other families?
Be strong and always advocate for your kids.