Accreditation enhances care for rare pulmonary diseaseby Nancy Humphrey May. 3, 2018, 10:55 AM
Monroe Carell Jr. Children’s Hospital at Vanderbilt is now a fully accredited Primary Ciliary Dyskinesia (PCD) Foundation Clinical and Research Centers Network site, one of 40 in the United States and Canada.
The accredited sites work together to improve awareness of the rare inherited disease and care for the children who have it.
PCD affects the cilia, tiny hair-like structures that line the airways, including nasal passages, sinuses, lungs, Eustachian tubes of the ear, the reproductive organs and ventricles of the brain.
Cilia move together in wave-like motions and carry mucus toward the mouth to be coughed or sneezed out of the body. Mucus contains inhaled dust, bacteria and other small particles. If the cilia don’t work well, bacteria stay in the airways and can cause breathing problems such as frequent cough and recurrent pneumonia. PCD mainly affects the sinuses, ears and lungs, and many who have PCD have breathing problems from the moment of birth.
PCD affects between one in 10,000 and 30,000 births, but most children born with PCD have a normal lifespan ahead of them.
Zion Horton, a kindergartener who lives in Lavergne, Tennessee, is one of about 50 children in the region who will benefit. Zion, a bubbly, vibrant and active 5-year-old, has a smile that “lights up a room,” said her mother, Valency.
Although it sounds simple, it’s crucial that she blow her nose thoroughly twice a day — to help clear mucus. She wears a heavy airway clearance vest twice a day (before school and before dinner) and takes medication to keep her airway clear.
“PCD affects the lung’s ability to get rid of the normal things we breathe in every day and creates extra mucus in the lungs, putting these kids at risk for respiratory infections and pneumonia over and over again,” said Michael O’Connor, MD, assistant professor of Pediatrics.
Valency, who said Zion has good and bad days, tries to instill in her daughter that PCD is what she has, not who she is. “It doesn’t define her, but we’ve taught her to be her own advocate as well, to speak up for herself if someone smokes around her or if someone wears perfume that is too heavy. We don’t want PCD to hinder her in her day-to-day activities.”
But the family, which includes Zion’s 8-year-old sister, Nia, 21-year-old brother, Edward, and father, Emmanuel, does have to build in time each day for Zion’s airway clearance.
Cilia dysfunction can also lead to ear and sinus infections along with hearing and speech development issues. In addition, many individuals with PCD also have fertility issues because sperm cells have structures that are like cilia and there can be faulty cilia in the fallopian tubes of women.
Ciliary activity is also responsible for organ placement in the developing embryo. A condition called Situs inversus totalis occurs in about 50 percent of all PCD patients, including Zion, whose heart, stomach, liver and spleen are on the opposite side of the body from where they should be.
“While PCD is a rare disease there is a significant need for increased awareness of it, both in the community and among health care providers,” said Lisa Young, MD, associate professor of Pediatrics, who co-directs the PCD Center with O’Connor.
“It can take a long time to get to this diagnosis. PCD is not just misdiagnosed. What’s more common is it’s missed altogether,” said Young.
Children’s Hospital is also one of a limited number of centers and one of only two in Tennessee that offer specialized nasal nitric oxide (nNO) testing to diagnose PCD. It’s a simple test in which a tiny foam piece with suction (about the size of a miniature marshmallow) connected to an analyzer is inserted into the nose to measure the level of nitric oxide in the nasal cavity. People with PCD have very low levels of this gas in their sinus cavity.
“It’s a very reliable test, and we are quickly learning how helpful this testing can be in making a diagnosis of PCD,” O’Connor said.
Children with PCD are seen by a multidisciplinary team at Children’s Hospital, including pediatric otolaryngology and respiratory therapists. They are monitored closely for respiratory infections and treated aggressively with antibiotics if they develop one.
“We’re partnering with other centers around the country to implement new therapies to improve care for our patients,” Young said. “PCD has been a very lonely diagnosis and we’re working to change that by setting up accredited centers, providing education to families and their providers about the diagnosis, and by conducting research to improve our understanding of PCD and develop new therapies.”
Zion has come a long way in understanding PCD, Valency said. “When she was around 3 or 4, she couldn’t understand why she was the way she was. She cried a lot because she didn’t understand. We did a lot of explaining and told her she was uniquely created and that God has a purpose for her.
“Now she’ll tell people ‘I have PCD. My heart is here (points to the right side of her chest) and yours is there (points to the left).’ We’ve also helped explain her condition at school so she doesn’t feel different. The pledge of allegiance seems like a minor thing to teach your child, but she came home and said ‘I’m supposed to put my hand over my heart. Is it OK to put it where my heart is, or where everybody else’s is?’” Valency said. “We told her either side is just fine.”
“We are delighted to welcome Vanderbilt to the growing PCD Foundation Clinical and Research Centers Network. Drs. Young and O’Connor exemplify the expertise, talent and drive that we look for when selecting our sites. It is what makes this network robust and exciting and we look forward to a long and productive relationship,” said Michele Manion, president and executive director of the PCD Foundation.