By: Amanda, Parent of Benjamin, a 2 year old with an SCN2A genetic change
“It is very devastating news to hear, but as long as you love and do the best you can for your child and stay strong, everything will be okay.”
What is your child’s relationship like with his/her siblings?
What does your family do for fun?
We go to the zoo, aquariums, take walks, go to the park.
Tell us about the biggest hardship your family faces.
Taking Benjamin places, transporting him, carrying him around our home. Our home is not adapted for his disability.
What about your child puts a smile on your face?
When I see him smile or hear him giggle.
What motivates you to participate in research?
Wanting to get more answers and to hopefully get better control on our son’s epilepsy.
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 don’t know, maybe another family with the same variant will show up and we can help educate them or advise them.
What have you learned about your child’s condition from other families?
The symptoms and severity of the medical issues is very broad.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
It is very devastating news to hear, but as long as you love and do the best you can for your child and stay strong, everything will be okay.
What is one question you wish researchers could answer about your child’s genetic change?
Why did this happen?