When Ryker Colón was first born, his parents Eddie and Brandi noticed something potentially concerning. Their young son had a chronic cough – and nobody could seem to figure out why. As Ryker grew older, he also become more unstable. His mobility faltered, causing him to fall frequently, and he struggled to hold his head up without support. Since then, Ryker has lost his ability to walk and requires mobility assistance. Eventually, a muscle biopsy found that Ryker had a rare JAG2 gene mutation which was causing an unnamed and largely undiagnosed form of muscular dystrophy. To this day, there are only a handful of known cases of children with this mutation across the globe.
How Frank Schwindel is Raising JAG2 Awareness
If you’ve recently watched a baseball game, especially a Chicago Cubs game, you may have (unknowingly) learned a little about Ryker’s story. That’s because, shares an article from the Chicago Tribune, first baseman Frank Schwindel has a special connection with Ryker; he even wears a blue “Team Ryker” wristband during games.
The journey to raising awareness began in 2020. Eddie nominated his son Aramis, and Ryker, to take a tour of Club 400, a unique Cubs fan paradise and nonprofit. After they were chosen for a tour, Eddie kept in touch with Steve McVicar, the creator of Club 400, who became increasingly interested in Ryker’s story. Later that year, Club 400 hosted a fundraiser, with special guest Ryan Dempster, and raised a whopping $40,000 to assist the Colón family with necessary expenses. Through Club 400 and its connections, the Colón family has also been able to connect with other helpful doctors and clinicians.
At a later point, Ryker met Frank Schwindel at a meet-and-greet event. Just like that, the pair formed a special bond. Since they’ve met, Schwindel has helped raise awareness of Ryker’s rare condition, shared “Team Ryker” wristbands with other Cubs teammates like Scott Effross, and given Ryker the time of his life by playing catch together on the field. Schwindel says that it must be incredibly difficult to grapple with an unnamed condition and to wonder what comes next. For now, he just wants to do his part in raising awareness and bringing a smile to Ryker’s face.
What are JAG2 Gene Mutations?
In the past, JAG2 has not previously been associated with any diseases. According to Frontline Genomics, this mutation, occuring in a ligand within the Notch signalling pathway:
is found to cause a rare form of muscular dystrophy (MD) that is consistent across multiple countries and ethnic groups.
There is still much to learn about JAG2 mutations and this rare muscular dystrophy. For current findings, take a look at this 2021 study published in the American Journal of Human Genetics.
Learn more about rare and undiagnosed/unnamed conditions from the Rare Genomes Project.