Emma Rose’s Story

By: Jennifer, Parent of Child Emma Rose, an 8 year old with an STXBP1 genetic change

“I believe our children are here as pioneers. They are here for a very important purpose and even though it isn’t the one we have chosen for them, they are making a difference and they are special.”

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

She loves her brothers and they adore her!

What does your family do for fun?

Swimming, Chuck E. Cheese (Emma loves him), spending time outdoors

Tell us about the biggest hardship your family faces.

The unknowns, first with the search for a diagnosis and later the unknowns of her gene mutation and what it means for her future.

What about your child puts a smile on your face?

Emma doesn’t see body shapes or sizes, she doesn’t see skin color. She sees eyes and smiles and loves every single one of them! She experiences joy in every part of her day and inspires me to be a better person.

What motivates you to participate in research?

Finding answers as well as helping other families and future generations.

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)?

The more information researchers have about specific genes and the diseases and symptoms they cause, the better equipped they will be to find treatments and cures.

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

I have learned about medications prescribed for other conditions that also help with her condition. I have learned of doctors who are passionate about treating our kids and this specific gene mutation.

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

Find a support group of other families. These people will become an extended family and are crucial in your journey.

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

Is it going to progress and transform as she ages? What can I expect for her/our future?

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

I believe our children are here as pioneers. They are here for a very important purpose and even though it isn’t the one we have chosen for them, they are making a difference and they are special.