Primary Ciliary Dyskinesia Center

What Is PCD?

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease impacting about 1 in 15,000 people. The name is long and may be a little hard to say, but each word has an important meaning: Primary (caused by genetics)+ Ciliary (affecting cilia — tiny hairlike structures on body cells) + Dyskinesia (abnormal movement).

People with PCD typically have a cough and nasal congestion that starts before 6 months old and never gets better, even when they are completely well.  

People with PCD may also experience:

  • Difficulty breathing, despite a normal birth 
  • Organs being on the opposite side of the body (situs inversus, heterotaxy)
  • Recurrent ear infections
  • Sub-fertility
  • Hydrocephalus

The disease can affect people of all races and ethnicities — recent genetic studies indicate that the genes for PCD are most common in those of African ancestry.  

Untreated PCD can lead to respiratory failure and require lung transplantation, so it is best to start treatment as early as possible. 

Why Choose Us

Primary Ciliary Dyskinesia Center logo

The PCD Center at Connecticut Children’s & UConn Health provides comprehensive care to infants, children, teens and adults diagnosed with primary ciliary dyskinesia. We’re proud to be a joint center, and the only accredited PCD Clinical Research Network Center by the PCD Foundation in the state of Connecticut. This designation means our patients are able to track their health outcomes in the PCD registry and have access to new therapies and research studies. 

The pediatric center is led Melanie Sue Collins, MD, a pediatric pulmonologist at Connecticut Children’s, and the adult center is led by Mark Metersky, MD, a pulmonologist at UConn Health. Both the adult and pediatric centers are staffed by a multidisciplinary team, which includes pulmonary medicine, social work, nursing and respiratory therapy to ensure a whole-body approach to PCD care. 

Dr. Collins and Dr. Metersky collaborate to ensure the centers offer consistent treatment and protocols. This allows for a seamless transition from the pediatric center to the adult center with no gaps in care. 

We see patients in all settings, including office visits, multidisciplinary team visits, and telehealth appointments. Our goal is to help every person (and their family) understands what PCD is, why treatment is important and creatively partner to ensure the very best individualized care. 

Are you a PCD patient with questions?

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Diagnostic Testing

Jaclyn Beirne, MD, and her team of genetic counselors are available to determine the best genetic evaluation and discuss results in a patient/family friendly way. Dr. Beirne sees both adult and pediatric patients and meets with the center directors regularly. Our goal is to ensure diagnostic accuracy but also for our patients and families to understand their genetic results.

We are one of two sites in New England offering this testing and the only one in Connecticut! Nasal nitric oxide testing is considered research in the U.S. We are happy to offer patients the opportunity to participate in this clinical trial. Colds and respiratory infections can affect the way our cilia work, so patients need to be well for 6-8 weeks prior to testing.

This non-invasive test can be performed during an office visit and was developed with our PCD otolaryngologist, Christopher Grindle, MD. Once the biopsy is performed, it is sent to the Mayo Clinic for electron microscopy. Colds and respiratory infections can affect the way our cilia work, so patients need to be well for 6-8 weeks prior to testing.

Therapies

We provide education to patients and families in both simple (chest PT, AerobiKA®, Acapella®) and advanced airway clearance techniques including huffing and autogenic drainage.  

Our respiratory therapists are trained to provide airway clearance education in English and Spanish. We also collaborate with Interpretation Services when needed. Our #1 priority is ensuring patients and families understand how to effectively clear their secretions mucus.

Knowledge about PCD is a critical part of the therapy for treating the disease. If you don’t understand the disease, how can you understand how your therapies and medications work? All aspects of PCD are reviewed in clinic including specific teaching sessions on mucociliary clearance and fertility

Patients receive an annual airway clearance teach in the clinic as well as a virtual one at home to ensure that the techniques and equipment setup are optimized. Patients and families receive a PCD guidebook in clinic as well as instruction on new therapies, laboratory work and imaging at the end of every visit.

An antibiotic taken three times per week (usually Monday, Wednesday and Friday) by PCD patients to help decrease the number of respiratory exacerbations.

  • Tobramycin: May be prescribed to eradicate pseudomonas or as chronic therapy in patients who have not cleared their pseudomonas infection.
  • Inhaled Aztreonam: An option for chronic therapy for those patients who have not cleared the pseudomonas infection.

Managing a chronic condition can impact a patient's mental health. We collaborate with the Division of Psychology and Social Work to ensure each patient receives the mental health support they need. 

Patients are monitored for healthy body weight and height as well as vitamins levels.

Our Team

Craig Lapin, MD

Pediatric Pulmonologist

Melanie Sue Collins, MD

Medical Director, Pulmonary Medicine | Program Director, Pediatric Pulmonary Fellowship | Director, PCD Center Director | Associate Director, CF Center | Co-Director, Asthma Center | Director, Cardiopulmonary Diagnostic Services

Christopher Grindle, MD

Medical Director, Otolaryngology | Pediatric Otolaryngologist
Illustration of a doctor

Jaclyn Beirne, MD

Jamie Harris, MD

Pediatric Pulmonologist

Ashley Barber, RN

PCD Center Coordinator

Lynn Dougherty, RRT

Respiratory Therapist
  • Specialty
  • Respiratory Therapy

Stacey Hallgren, RRT-NPS, AE-C

Registered Respiratory Therapist & Pulmonary Function Specialist

Lisa Devine, RDN

Clinical Dietitian

Patient & Family Resources

PCD is a rapid expanding field. Here are some articles we recommend: 

Diagnosis

Fertility

Genetics

Therapies

Therapies Undergoing Research Trials

Lung Transplantation

Research

We encourage all our patients to participate in the PCD Foundation Registry.  

This simple testing can help determine if a patient has PCD. We perform testing on adults and children.  It is currently a clinical trial.  

Medications are trialed in adults first to ensure safety and efficacy.  These studies may not be available in adults yet but still are interesting to review. 

Learn More