Article Originally found at Mayo Clinic's "You Are" Blog.
The genomic counselor brought good news — the Individualized Medicine Clinic team had found the culprit gene. Renata Burdell knew her son's medical odyssey was finally over.
"It has made such a huge difference," Renata says. "We don't have to keep wondering and going from one specialist to another looking for a reason for Javrie's symptoms."
In one sense, what she and her husband, Josiah Burdell, sought for their 6-year-old son, Javrie, was simple — a name for his condition. A seemingly endless parade of local caregivers failed to give them answers, leaving them fearful for Javrie's future after a baffling array of epilepsy, developmental delays, a weakened musculoskeletal system and more. Would he get worse? Would he live a normal life? A long life?
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."
To provide the Burdells answers, the Individualized Medicine Clinic team conducted genomic sequencing on Javrie and his parents. It revealed a rare mutation on the PACS1 gene that scientists in the Netherlands had recently linked to similar symptoms in two boys.
In Javrie, the genetic alteration is known as a de novo mutation, meaning that neither parent possessed or passed on this mutation. It happened, instead, at some point during very early pregnancy or during replication of his parents' sperm or egg cells.
"The mutation identified in Javrie causes a syndrome so rare that it doesn't yet have a name," says Kimberly A. Schahl, C.G.C., the genomic counselor who worked with the Burdells to secure a diagnosis. "There have been only two other reported cases. Without the use of whole-exome sequencing, this family likely would have a much longer wait to end their odyssey."
A CONFIDENT COMMITMENT
Neil and Sue Eckles first donated to Mayo Clinic's breast cancer research, but as their support grew, they realized the Center for Individualized Medicine could deliver on their hope of providing individualized treatments and care for those with cancer or other rare disorders.
"It appears to us, as lay people, that individualized medicine is the wave of the future for so many diseases such as cancer, diabetes and other rare illnesses dependent on genetic factors," Sue says.
Benefactors like the Eckles are essential to making individualized medicine a reality for more patients like Javrie. And they are seeing their support make people's lives better.
"We read amazing stories about children like Javrie. It must be a tremendous relief to him and his parents to understand the genetic issues involved in their son's illness because of research through the center at the Mayo Clinic," Sue says. "Our hope for Mayo Clinic and the Center for Individualized Medicine is that they will continue to study and research genomes in hopes of finding cures and treatments that are specific to each patient."
Learn more about the Center for Individualized Medicine here.