Primary Ciliary Dyskinesia (PCD) Center of Excellence

Lurie Children’s is one of a handful of institutions in the country – and the first in Illinois – to offer a Pediatric Primary Ciliary Dyskinesia (PCD) Center of Excellence accredited by the PCD Foundation.

The Center serves as both a referral and care center for children with PCD across the region. The Center provides access to high-quality diagnostic tools and the spectrum of pediatric expertise required to care for children with this genetic disease (pulmonologists, cardiologists, otolaryngologists, neonatologists and pathologists), in addition to support team members with a focus on PCD (respiratory therapists, genetic counselors and nurses).

If your primary care provider suspects your child may have PCD, the pediatric PCD Center at Lurie Children’s can provide an expert diagnosis and treatment plan. We have the diagnostic tools available to make or confirm the diagnosis, and the clinical expertise to care for your child until the transition to adult care. 

Lurie Children's Difference

In addition to comprehensive, high-level clinical care, patients in Lurie Children’s PCD Center have access to ongoing, cutting edge translational research to better understand and characterize the mechanisms of PCD leading to personalized medicine and treatment in the future.

About PCD

Primary ciliary dyskinesia is a genetic disease that causes cilia in the body to not move as they should, causing a build-up of mucus and recurrent infections in the ears, sinuses and lungs. Those diagnosed with PCD may also have abnormally placed organs within their chest and abdomen and may suffer heart issues.

Symptoms of PCD

Common symptoms of PCD that may warrant further diagnostic testing at a PCD Center of Excellence include:

  • Difficulty breathing as a term newborn requiring oxygen at birth
  • Chronic, daily, wet cough that started as early as 6 months of age
  • Chronic, daily congestion that started as early as 6 months of age
  • Frequent ear infections
  • Frequent chest infections (pneumonia)
  • Hearing loss or speech delays
  • Severe and frequent sinus infections

What to Expect at Your Evaluation

Your child’s evaluation team will include a pulmonologist, a respiratory therapist, a genetic counselor and a nurse. The evaluation will include:

  • Review of your child’s medical history
  • Physical examination
  • Blood tests
  • Nasal nitric oxide test – measures the level of nitric oxide gas in the nose
  • Pulmonary function tests – assesses how much air your child can breathe in and out, how fast they can breathe and how well the lungs deliver oxygen to the blood
  • Nasal scrape ciliary biopsy – examines how well the cilia function
  • Genetic test – looks for gene mutations common in children with PCD

Your child will also be evaluated by a genetic counselor with specialized expertise in PCD in addition to a respiratory therapist with knowledge in advanced airway clearance techniques. 

At the end of your evaluation, you will receive a preliminary diagnosis so that your child can begin treatment. Our team will follow up with a confirmed diagnosis once all of your child's laboratory test results are available.

Treating PCD

If your child is diagnosed with PCD, our team will create a personalized treatment plan to manage your child's symptoms and help them stay active.

Your child’s treatment plan may include:

  • Airway clearance therapies – prevent mucus buildup
  • Medications – prevent and/or treat symptoms, including infections
  • Regular checkups to control and treat lung, sinus and ear infections

Our PCD Specialists

Core Pediatric PCD Team

  • Mary Kate McIntyre, BSN, RN, CPN
    Registered Nurse
  • Alexander Ing, MS, CGC
    Certified Genetic Counselor
  • Joanne Salazar, RRT-NPS, CPFT
    Respiratory Therapist
  • Kristina Firestine, RRT
    Respiratory Therapist

Ancillary Providers

Make an Appointment

To make an appointment with the PCD Center at Lurie Children’s, please call 312.227.6260 and ask to speak with the clinical office coordinator.  Referrals from your physician can be faxed to 312.227.9420, Attn: Clinical Office Coordinator.

Additional Resources

For additional information on PCD, visit the website below:

Related Specialties