FAMILY STORY

The Ramirezes’ Journey with PPP2R5D

Research is important because it’s about being part of finding the solution.

Ana Maria Ramirez, mother of Antonio Jaimes, her 10-year-old son living with PPP2R5D-related syndrome

What is your family like?

We have five family members, 2 adults and 3 kids. We are from Bucaramanga, Colombia. Lucia is a girl and the oldest sister, Antonio is the PPP kiddo, and Juan is a baby who was born during the COVID-19 pandemic.

What do you do for fun?

We love swimming, running, and playing different sports. We also love nature so we go camping.

Tell us about the biggest hardship you face.

Understanding and accompanying Antonio in the process without creating burdens for the other two siblings.

What motivates you to participate in research?

It is important to be part of finding the solution, and also it is our compromise to other generations.
Feeling part of the group and being part of the community that has your same goals in mind.

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

If we can find a cure one day.

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

Specifically, some therapies that could help him.

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

Have a lot of faith and patience.