A Quest to Breathe Easier
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
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.”