A Frightening and Unexpected Diagnosis

Ian was 5 when his mom, Alix, asked his pediatrician for advice on bedwetting — a typical childhood concern. After referrals and testing, doctors suspected a rare genetic condition. Autosomal recessive polycystic kidney disease (ARPKD) causes cysts to develop in clusters in the kidneys and liver, which can lead to kidney failure or other serious complications. There is no treatment or cure.

“It was like a grenade going off in the middle of our lives,” Alix says. The family received the news on a Friday afternoon, leading to a weekend of fear. A friend counseled Alix to search for ARPKD researchers. The same name kept coming up: Dr. Lisa Guay-Woodford, a world-class pediatric nephrologist at Children’s National Hospital.

The family met with Dr. Guay-Woodford after genetic testing confirmed Ian’s diagnosis. She determined his disease was less severe, but risk remained. Dr. Guay-Woodford described how they would monitor it and address complications if they appeared. The family now had a plan and an empathetic expert on their team. “It was nine months after the weekend that changed our lives and it was the first time we were able to breathe,” Alix says.

Today, Ian is a healthy 8-year-old who reads superhero comics, builds with Legos and joins his brother and dad for kitchen table science experiments. He plays an active role in managing his disease, drinking two liters of water daily and taking medicine for high blood pressure, a common complication. Dr. Guay-Woodford sees Ian every six months and receives regular updates from his local doctors. Ian describes ARPKD in a practical way: “My kidneys don’t work like everyone else’s. That’s why I drink a lot of water.”