The Caparros’ Journey with SYNGAP1-Related Syndrome

What is your family like?

Our family has four members: Felipe, 15 years old; Francisco, 11 years old with SYNGAP1; Claudio, 48 years old; and Fernanda, 44 years old. We live in Argentina, and Francisco was diagnosed in 2021 when he was 6 years old.

What do you do for fun?

We enjoy playing sports, especially soccer, but a while ago, Fran became a huge basketball fan, so we love watching him play.

Tell us about the biggest hardship you face.

The biggest hardship we currently face is helping Francisco during his moments of crisis. While they don’t happen very often, when they do, we still struggle to help him try to reduce the duration of those moments. Communication has been a great help for him with his communicator.

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

Participating in studies is the hope that all SYNGAP families, not just ours, have for the future generations.

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

Francisco’s information helps complete the statistics; we need more and more families to complete these types of registries.

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

When will we have a cure or treatment for this disease?

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

We’ve learned so much, from improvements in communication and behavioral strategies. It’s crucial to be in touch with other families; we can all help each other.

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

My advice would be to know that every patient is unique, and while sharing helps us a lot, it’s possible your family member might have similar characteristics, but also different ones.

How has Simons Searchlight served as a resource for you and your family?

Resources for families.