2012 Articles and Releases

A Quest to Breathe Easier
02/09/2012

As an active 3-year-old boy, Rylee Eastvold loves riding on his dad’s shoulders and playing with his toy trucks. You would never know he spent the first two years of his life tethered to an oxygen tank.

Soon after he was born in 2008, Rylee’s parents, Tori and Ryan, noticed their son’s breathing wasn’t normal. He was whisked to the newborn intensive care unit at their local hospital in Forest, Iowa. This began a long journey that included another hospital to try to find what was causing Rylee’s breathing problems. He was tested for pneumonia, cystic fibrosis, interstitial lung disease and other problems, yet doctors still couldn’t offer a firm diagnosis. Finally, Rylee was sent home with oxygen and an apnea monitor.

Rylee continued to struggle as mucus filled his nose and lungs. An oxygen tank was his ever-present companion. More tests still didn’t lead to a diagnosis. “I just wanted them to give me the right answer so we could move forward,” Tori says. Rylee was evaluated at a Chicago hospital, where he was diagnosed with a surfactant protein deficiency and interstitial lung disease. For the next year, he was treated for interstitial lung disease with round-the-clock oxygen.

In 2010, the Eastvolds had an insurance change that meant Rylee’s care in Chicago would no longer be covered. However, it did cover visits to pulmonologists at St. Louis Children’s Hospital, nearly seven hours from the Eastvold’s Iowa home. The insurance change also changed Rylee’s future.

At the first Children’s Hospital appointment in January 2010, physicians re-evaluated Rylee’s condition and determined he did not have interstitial lung disease. Instead, doctors diagnosed Rylee with a different genetic disorder called primary ciliary dyskinesia, or PCD. PCD is a progressive airway disease that causes recurrent infections of the lungs, middle ear and sinuses.

“The diagnosis left us with mixed emotions,” Tori says. “We were relieved to have a diagnosis but sad that right now, there’s no cure for PCD.” Rylee now comes to St. Louis four times a year to visit Thomas Ferkol, MD, a Washington University pediatric pulmonologist at St. Louis Children’s Hospital. “Dr. Ferkol is so knowledgeable about PCD,” Tori says. “I always have lots of questions at each visit and he takes time to answer all of them. It’s hard to be far away from your specialist but Dr. Ferkol and his nurse, Jane, feel like they’re close by. All I have to do is call.”

Rylee’s treatment, while not curative, is aimed at preventing lung infections and delaying the progression of lung disease. For 20 minutes each day, Rylee wears a vest device that provides high-frequency chest wall oscillation (HFCWO) therapy to keep his airways clear. “Once Rylee started on this therapy, we saw a big difference in him,” Tori says. “His health is much more stable and he doesn’t get sick or need antibiotics as often. Having the answer and knowing what we are fighting makes it easier for us to plan for Rylee’s future health needs.”

Dr. Ferkol is part of a clinical research network to study rare diseases of the airways, concentrating on PCD and atypical forms of cystic fibrosis. Rylee is participating in the PCD study. Dr. Ferkol also has created a multidisciplinary research collaborative, funded by the Children’s Discovery Institute, which is developing better standards for diagnosis, clinical care and identification of novel therapeutic approaches for PCD and other airway diseases.

Founded in 2006, the Children’s Discovery Institute is a pediatric research partnership between St. Louis Children’s Hospital and Washington University that focuses on the treatment, cure and ultimately the prevention of childhood diseases and illnesses.

“By being part of the study, we hope Rylee and other children with PCD will have a cure one day,” Tori says. “It’s so important to support research to help doctors understand PCD better. PCD is considered a rare disease, but considering how difficult it was to get a diagnosis, you have to wonder how many other children have suffered and never got a diagnosis.”

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