Meet Jonas

By Jonas’ Family

Jonas, age 11, from upstate New York Jonas, was diagnosed with CdLS at age 9 after years of repeated medical, physical, and developmental differences led us to genetics.

Testing confirmed a change in his SMC1A gene. In spite of it all, Jonas has always remained good-natured; his smile lights up every room, and his humor is unfailing! Now a bright and cheery 11-year-old, he loves reading, especially about shipwrecks and other historical events. He enjoys watching and playing baseball and recently joined his youth commissions wrestling team! Although Jonas’s physical differences make participating a little extra challenging, his friends and coaches always rally around him and make sure he feels included and important.

We have no doubt he will do great things.

Jonas’s diagnosis journey started when he was born at 36 weeks gestation, with complications including jaundice, hypoglycemia, and sepsis. When we were discharged, it was with instructions to follow up with specialists. Over the next several years, we saw a multitude of specialists, and Jonas underwent all manner of tests and procedures to diagnose and treat complications that we did not know, at the time, were likely symptoms of CdLS.

It wasn’t until Jonas was 9 years old that we were finally referred to genetics, and testing revealed a change in his SMC1A gene. We spent the next several months learning about CdLS and seeking out other members of the CdLS community. This led us to the CdLS Foundation and eventually to our first gathering, the East Coast Regional Retreat put on by the Foundation.

At first, hearing the diagnosis of CdLS was scary, and we feared what it might mean for us and Jonas’s future.

Now we know that not only is Jonas’s still the same happy and capable boy he always was, it also opened up a whole new world and community for us. What a blessing it has been to find this support and these friends!

Jonas no longer feels alone in his experiences, and his confidence has increased exponentially.

Advice for other parents – never stop fighting. Seek second and third opinions. You know your child best, and you are their best advocate.

Remind providers and educators that they are a person first and never let them forget it.