All they wanted was a name. Something -- anything -- to call the mystery condition that plagued their young son. But appointment after appointment with local care providers had given Renata and Josiah Burdell little insight into what was happening with their son. Javrie, just 6 years old, was battling epilepsy, developmental delays, a weakened musculoskeletal system, and more -- all of which left his parents fearing not only for the quality of his young life, but also its length.
At the height of their worry and search for answers, the Burdells found their way to the Individualized Medicine Clinic at Mayo Clinic’s Rochester campus. And it was there that a team of specialists seemingly did the impossible by zeroing in on the one gene that was responsible for Javries medical problems. More importantly for Renata and Josiah, however, doctors were finally able to tell the family exactly what it was they were dealing with, diagnosing Javrie with a rare genetic mutation known as de novo mutation.
"It has made such a huge difference," Renata says in a story posted on the You Are … The Campaign For Mayo Clinic website. "We don't have to keep wondering and going from one specialist to another looking for a reason for Javrie's symptoms."
Staff from Mayo's Individualized Medicine Clinic were able to give the family that diagnosis after conducting genomic sequencing on Javrie and his parents that showed them the de novo mutation within Javrie's PACS1 gene. It's a mutation that Kimberly Schahl, the genomic counselor who worked with the Burdells, told the family came from neither Javrie's mother nor father, but one that instead likely occurred on its own at some point during the very early stages of Renata's pregnancy. "The mutation identified in Javrie causes a syndrome so rare that it doesn't yet have a name," Schahl says. "There have been only two other reported cases."
The Burdells say they are thankful to Mayo, and especially the staff at the Individualized Medicine Clinic, for putting an end to the family's long, and at times frightening, search for answers. The results from Mayo Clinic demystified the disease, and now they can focus on treatments to help Javrie live life to the fullest. "It's such a relief," Renata says. "Other than the care we got from our local pediatrician, we have never gotten the same level of care that we got at Mayo Clinic."
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