Beckett aus den Vereinigten Staaten

In 2012, we received life-changing news. Our four-year-old son Beckett, who had a history of developmental delay, was diagnosed with a rare genetic condition. Genetic testing at Texas Children’s Hospital revealed that Beckett had a change in SYNGAP1. Only five other cases had been diagnosed at the time, and Beckett’s was the first known case at Texas Children’s diagnosed. Mutations on the SYNGAP1 gene had been linked to intellectual disability and, in some cases, autism. However, at the time little else was known about its impact. Doctors presented a grim but hazy picture of Beckett’s future. Physicians could tell us very little about what the diagnosis meant for our son, except it was the cause of his intellectual disability. That's when we started our journey to find treatments.

Beckett had a long road to get to a diagnosis. Weldon noticed early on that Beckett wasn’t developing like his twin sister, Pyper. He couldn't sit up or roll over when Pyper could; he was kind of like a floppy noodle. At his six-month checkup, Beckett, diagnosed with developmental delay. Doctors prescribed physical and occupational therapy, but his symptoms continued. Over the next few years, the family saw nearly a score of specialists and underwent a slew of tests, including CAT scans, MRIs, and EEGs.

At five years old, a 24-hour EEG test finally confirmed what his mother had suspected for several years. Beckett was having absence seizures, a type of brief seizure characterized by staring spells. Once we realized he was having seizures, things started changing for us.

After Beckett’s diagnosis, I began reaching out to scientists and physicians who might have expertise in SYNGAP1. I had begun to blog about Beckett and his diagnosis, and other families with SYNGAP1 variations soon reached out. That turned into a Facebook group, which turned into the organization that we have now.

This is a lifelong calling to help not just my son but others like him.