Emily’s Story

By: Kristy, Parent of Emily, a 13 year old with an SCN2A genetic change

“There is hope for our children and science is evolving at such a fast rate, so keep the faith and hope alive! Believe in your child’s abilities and don’t focus on their lack of skills.”

What is your child’s relationship like with his/her siblings?

Emily loves her sister especially when she helps her with art projects or bounces her on the trampoline.

What does your family do for fun?

We take road trips in our modified van. In 2018 we traveled over 10,400 miles and visited many new states and even a new country (Canada).

Tell us about the biggest hardship your family faces.

Emily requires cathing to empty her bladder. We have to do this 6 times daily and that requires being in a place that is clean and big enough to have a teenager lie down on it. Sadly we end up doing this on the back seat of our van since there are not accessible bathrooms anywhere that have a full size table and even a lift so we could do in the privacy of a bathroom..

What about your child puts a smile on your face?

New adventures and anything that involves bouncing!

What motivates you to participate in research?

We want the absolute best quality of life for Emily. That is why we continue to participate in research so we can give that to her and hopefully someday soon effective treatments and even 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)?

Every piece of the puzzle brings all of us closer to unlocking this rare disease/disorder.

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

That each child presents so incredibly different.

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

There is hope for our children and science is evolving at such a fast rate, so keep the faith and hope alive! Believe in your child’s abilities and don’t focus on their lack of skills. No matter what a child deals with they will only perform to people’s expectations. So if you expect nothing, you will get nothing. Your child IS in there and it’s up to you to pull them out and help them reach their potential.

What is one question you wish researchers could answer about your child’s genetic change?

Why were the first several years so touch and go yet now that Emily has reached puberty her seizures have improved with very little medication changes?

Is there anything else you would like to share with other families?

You are not alone.