When Karen McEwen looks back at the first three years of her oldest daughter’s life, she describes it pretty succinctly.
“If we weren’t in the hospital, we were in a doctor’s office.”
Chronic bouts of pneumonia and bronchitis, severe wheezing and coughing, and repeated ear infections – it was one thing after another for Elana McEwen.
But doctors weren’t sure why Elana kept getting so sick. Eventually, her family was referred to C.S. Mott Children’s Hospital to see Dr. Marc Hershenson in the Division of Pediatric Pulmonology.
Tiny structures, big diagnosis
Dr. Hershenson suspected Elana may have a very rare disease called Primary Ciliary Dyskinesia (PCD). PCD is caused by a defect in cilia, which are microscopic hair-like structures on the surface of the cells of the respiratory tract. When the cilia are not constructed properly, mucous, bacteria and particles get stuck in the lungs, sinuses and inner ear, leading to frequent infections, coughing and difficulty breathing.
At the time, 10 years ago, there was no practical test for PCD. So little Elana underwent a panel of substitute tests to rule out other respiratory diseases with symptoms similar to what she was experiencing.
“It felt good to rule out those other alternatives and finally feel like we had an answer to what was at the root of Elana’s problems,” says Karen McEwen. “But the reality of this diagnosis was still pretty scary.”
Dr. Hershenson and his team have worked closely with the family to develop a treatment plan that most effectively manages Elana’s symptoms. The good news? It seems to be working. Despite frequent illnesses and hospitalizations, Elana has relatively minimal damage to her lungs. The bad news? Managing her PCD requires hours of daily care. (See sidebar, A day in the life of Elana)
“Her care plan includes 7 or more different therapies a day,” Karen says. “And when she gets sick we have to ramp that up even more. It’s a lot to keep up with.”
But there’s reason to be optimistic.
Progress in the PCD world
“Ten years ago, diagnosis was incredibly complicated,” says Thomas Saba, M.D., pediatric pulmonologist and director of the University of Michigan Primary Ciliary Dyskinesia Center. “Most patients had to undergo a sedated biopsy and the physician had to perform an extremely complicated analysis of the cilia using electron microscopy. The complex nature of testing led to many patients with possible PCD not having access to definitive diagnosis at all.”
“Now we have access to genetic testing to isolate the root causes of PCD, as well as a non-invasive test that is as simple for the patient to undergo as breathing.
This non-invasive exam, nasal nitric-oxide testing, is still relatively rare among hospitals nationwide. U-M has become one of only a handful of centers to offer nasal nitric oxide testing for patients with suspected PCD.
Establishing nasal nitric oxide testing capabilities was an important step in U-M’s process towards becoming an accredited PCD Center.
An elite network of PCD Centers
“As we became more active in the PCD advocacy community, and learned that the PCD Foundation was starting to identify centers with specialized expertise in PCD, we went right to Dr. Hershenson and said we thought U-M needed to become one,” says Karen, who has become an eager advocate for families with PCD, and a volunteer with the Primary Ciliary Dyskinesia Foundation.
“I had a long list of reasons why I felt it was important, and I was ready to make a big case for why U-M should become a center. But Dr. Hershenson just said ‘You’re right – we absolutely need to do this.’ That’s the type of attitude they have here.”
Dr. Hershenson credits the McEwen family for being the team’s motivation.
“Elana and her family have really been an inspiration to all of us,” says Dr. Hershenson. “It’s not just how well Elana has done, and how much of a joy it’s been to watch her grow and thrive. They’ve become so active in advocating for patients with PCD. The McEwen family really inspired us to invest the time and resources it’s taken to establish this program – and now the potential for what we can accomplish is really exciting.”
In addition to the nasal nitric oxide testing program, which is still in its infancy and currently part of a clinical trial, Dr. Saba expects Mott Children’s Hospital to be a participating center in the first study evaluating a new medication for individuals with PCD.
“For the first time ever, a new drug has been designed for this patient population,” says Saba. “We’re looking forward to being a part of the trial and helping advance this area of understanding for our patients.”
U-M diagnoses and treats both adult and pediatric PCD. The program currently manages the care of approximately a dozen pediatric patients, but the rare nature of the disease combined with historic inability to definitively diagnose PCD has likely led to under diagnosis of this patient group.
“It’s very likely that there are patients who have been living with recurring respiratory illnesses, or possibly misdiagnosed with one of the many respiratory diseases that mimic PCD’s symptoms, who could actually have PCD,” says Saba. “Missed diagnosis can result in significant lung damage, so we can’t underestimate our excitement about being able to offer less invasive, more definitive treatment tools now.”
There’s no stopping her now
Today, Elana is a thriving 12.5 year old doing all the things you’d expect a “tweenager” to do. She enjoys spending time with friends, going to movies and hanging out at the mall. She also plays volleyball, enjoys biking, and even plays soccer.
“She’s old enough now to know her limitations and watch for signs that she needs to take a break,” her mother says. “Most of the time she spends the second half of the soccer game playing goalie because running up and down the field can be a bit much for her for the whole game. But that’s just how Elana is. She has learned to work around her limitations and at the end of the day, PCD is just one part of who she is. She’s not letting it keep her down.”
Take the next step:
- Learn more about primary ciliary dyskinesia (PCD).
- Learn more about pediatric pulmonology at C.S. Mott Children’s Hospital.
- Read about nasal nitric oxide testing for primary ciliary dyskinesia.
University of Michigan C.S. Mott Children’s Hospital is consistently ranked one of the best hospitals in the country. It was nationally ranked in all ten pediatric specialties in U.S. News Media Group’s “America’s Best Children’s Hospitals,” and among the 10 best children’s hospitals in the nation by Parents Magazine. In December 2011, the hospital opened our new 12-story, state-of-the-art facility offering cutting-edge specialty services for newborns, children and women.