Everleigh’s Story Living with SMARCA4

What is your family like?

I am the mother of 3 girls. My two oldest 17&15 are from my first marriage and my youngest 3.5 is my affected child. Her variant is de novo. It has been a blessing and a challenge for my family. But ultimately we are happy to be pioneers to help others in the future.

What do you do for fun?

We love to swim in our backyard pool and go to the local water park. My affected daughter loves water!

Tell us about the biggest hardship you face.

Having to be in the hospital frequently and not with my teens during crucial milestones.

What motivates you to participate in research? 

I participate in research because there isn’t enough for my needs and I am hopeful that one day enough families will participate and we will begin to compile crucial data for future generations.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes? 

I am doing my part by doing all our surveys and tests. The more info they have the faster we can help each other!

What is one question you wish researchers could answer about this genetic change?

What are the key affecting issues in our smarca4 kids and not the generalized CSS diagnosis because ours aren’t affected the same as others.

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

How very similar our gene group of kids are. The same issues and how they managed them with their care providers.

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

Dig in and do your research and your part to get the information in the system! It takes a village!