University Of Iowa Medical Team Solves Medical Mystery

Feb 28, 2020

An 11-year-old boy playing baseball stops running, clutches his chest and falls to the ground. He cannot be resuscitated. One of his brothers survives a similar attack and no one can figure out why, until a medical team at the University of Iowa discovered an unknown genetic disorder.

On this Talk of Iowa, host Charity Nebbe talks with Dr. Ian Law and Hannah Bombei to discuss their years of testing and research to stop a disease plaguing an Iowa Mennonite family of eight.  

“When you have children that are dying, it’s not fast enough,” Law said. “And so when we have a family that comes in with these challenging situations I always have optimism, and I’m hoping we can work quickly enough to have an impact on that family and then on the broader population.”   

The family had a history of passing out while playing sports and, in search of answers and genetic information, volunteered to have their blood drawn and tested in a lab.

“We were lucky it only took a couple of years to find this answer,” Bombei said. “It could’ve taken much longer. This discovery would not have been made if it weren’t for all of them lining up in exam rooms offering their blood samples and really wanting that answer.”

An implantable cardiovascular defibrillator will live permanently inside the patient’s body.
Credit Matthew Alvarez / Iowa Public Radio

Law specializes in treating children with heart arrhythmias and  led the team that solved this medical mystery. Bombei, a Certified Genetic Counselor at the University of Iowa Hospitals and Clinics, was also part of the team.

A Mayo Clinic laboratory was used to help identify a mutation in the RYR2 gene, and its inherited negative effects on Mennonite families.

Guests:

  • Hannah Bombei, certified genetic counselor
  • Dr. Ian Law, division director of Pediatric Cardiology and director of the Electrophysiology program at the University of Iowa Hospitals and Clinics