FAMILY STORY

Sawyer’s CHAMP1 Story

“I have learned that all of our kids are truly champ1ons with pure hearts and contagious laughter.”


By: Richelle, parent of Sawyer who has a CHAMP1 genetic variant

What is your family like?

We are full of love and laughter –
Lots of laughter!
We try to teach our kids that you need a sense of humor to help you in life.

What do you do for fun?

We love spending time together and going on walks through the ravine or driving through the mountains and spending time at beaches.
And I’m usually always reading books out-loud to the kids at night.

Tell us about the biggest hardship you face.

The biggest challenge for us is still living in the “unknowns”. Having a rare genetic condition with little information out there leaves us with more questions than answers. For our son, we have to just take it day by day and not stress about his future or the what-ifs or how’s.
With more research and maybe treatment options one day, there are lots that could change. It’s learning to accept that it’s OK to have a path unwritten.

What motivates you to participate in research? How has participating in research been helpful for you?

Knowing we are helping an entire community of families with this genetic condition motivates me to participate. We need the numbers to collect more data.
I really enjoy getting data reports from Simons knowing my son is included in the research. It’s great information not only for me but for my sons’ team! It’s valuable information for his teachers, doctors, and his home therapists.

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

By participating in the surveys and doing the follow-up phone sessions I’m helping contribute to Simons Searchlight because they can use my information plus assessments from numerous other places and lab work to help them learn more about Champ1.

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

Being in Canada, will future treatment options only be available in the US or will there be something available here too?

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

I have learned that all of our kids are truly champ1ons with pure hearts and contagious laughter.
I’m so thankful to have a community to connect with.

If you could give one piece of advice to someone recently diagnosed with this genetic variant, what would it be?

Don’t compare how big or small your child’s challenges are compared to other children with the genetic change.
This is your story.
Take the time to grieve.
And then move onward. Join a community.

Your child is important and you get to help make a path to shed light on whatever genetic condition your child has by participating in research studies.

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