By: Jackie, Parent of Alex, an 18 month old with an STXBP1 genetic change
“Take things one day at a time. Also, get involved. It has helped me push through the isolation and fear I initially felt when we got the diagnosis.”
What is your child’s relationship like with his/her siblings?
They love each other. They like to giggle and smile together, and sometimes play with toys.
What does your family do for fun?
Spend time with each other. This might be going on a family walk or watching a movie together.
Tell us about the biggest hardship your family faces.
The unknown of what will happen with our atypical child.
What about your child puts a smile on your face?
He is the sweetest and happiest child. Just being with him can put a smile on your face.
What motivates you to participate in research?
To help medicine and research to move forward in finding better treatments and hopefully one day a cure.
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)?
Helping researchers understand his disorder so they can better design studies.
What have you learned about your child’s condition from other families?
To take things one day at a time.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
The same as above – to take things one day at a time. Also, get involved. It has helped me push through the isolation and fear I initially felt when we got the diagnosis.
What is one question you wish researchers could answer about your child’s genetic change?
Why are there such differences in the way the gene is expressed between our kids?