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

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.

PCD Center Coordinator reviews education materials with young patient

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.

Diagnostic Testing

Therapies

Education

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.

Frequently Asked Questions

How do you get PCD?

PCD is an inherited disease. This means that there is a change (or mutation) in your genes that causes a part or parts of the body to work abnormally. For most people with PCD they get a gene from their mom and another from their dad.

The genetic changes of PCD can vary from person to person. This is because of your specific genes for PCD and other genes in your body that respond to infections. While we know a lot more about genes than we did years ago, we are still learning every day so it is important to take care of yourself, even when you feel fine, to make sure you do well with PCD.

OK, so I inherit PCD and this causes my body to work abnormally, but what does that mean?

In our bodies we have special cells with tiny hairlike projections called cilia.

These cells cover or line the inside of:

the nose and sinuses
breathing tubes in the lungs
the ear
the fallopian tubes in women/ efferent tubules in men (reproductive system)
the ventricles of the brain

Cilia are designed to move in a specific wave like motion which works to move the mucus along the different areas of the body. In PCD, because the cilia are put together abnormally their motion is off and sometimes completely still.

Think of the waves of the ocean that gently bring seaweed debris from the depths of the ocean to the shore. When the water is still without any motion, seaweed collects and the water gets “yucky.” On the other hand, when the water doesn’t move properly, like a whirlpool, seaweed also gets trapped. Like the ocean, the cilia have to work in a gentle wave like motion to keep the body at peace.

In the lungs, nose and sinuses, the wavelike motion of the cilia work with the mucus move bacteria and debris out of the lungs. This keeps our bodies healthy. When the cilia aren’t moving properly, like in people with PCD, all this gets stuck in the mucus which causes infection and inflammation. While it sounds like a tiny little problem, absence of normal ciliary motion can result in serious long term consequences.

This partnership between mucus and cilia is known as ‘mucociliary clearance’. First the mucus traps bacteria and debris and then the cilia move it up and out of the lungs, nose and sinuses. When mucociliary clearance doesn’t work properly, people can get really sick from bacteria and debris staying put where they can cause infection and inflammation. Chronic infection and inflammation can lead to serious problems in the lungs. In fact, some people with PCD have such significant lung disease that they have to be on oxygen every day or even need a lung transplant.

I’ve heard that people can have reversed organs with PCD. What does that mean?

Simply put, our bodies are not the same on both sides. When we are developing in the womb, specialized cilia (called nodal cilia) appear and help get the organs get to their proper positions.

In PCD, there may be abnormal motion of these specialized cilia. When this happens organs are arranged inside the body at random (50/50 chance). When this happens three organ arrangements can occur:

Typical placement known as situs solitus
Mirror image placement with the organ being in the same place but just on the opposite side of the body which is known as situs inversus or a laterality defect
Unique organ development or placement known as situs ambiguus or heterotaxy

Just for reference, this placement of the organs is also known as "laterality," a term describing the dominance or difference between the sides of the body.

Are changes in organ placement a big deal?

Sometimes yes and sometimes no. Sometimes changes in organ placement can cause the organs to not function the way they should—your PCD doctor can help arrange testing to evaluate these changes. Other times, everything is functioning properly but just in a different position

Like everything with PCD, even if you/your child are feeling fine, it is still important to have the placement of your organs evaluated and to make sure they are working properly.

Why do they have to swab my throat every clinic visit?

A throat culture is completed at every clinic visit to see if there are any harmful bacteria in the respiratory tract. They are routinely checked to monitor which/any bacteria are growing.

Most of the bacteria we find on the cultures does not require treatment unless you are having increased symptoms or are sick. These results also help us decide which antibiotics will be helpful if they are sick.

One special bacteria that does require treatment is call Pseduomonas aeruginosa (Pa). This bacteria can cause your lung function to get worse, so it is important to treat it right away with inhaled antibiotics. Hopefully, the inhaled antibiotics get rid of (eradicate) the bacteria. But if not, don’t worry, studies show staying on the inhaled antibiotics can help keep your lung function normal even with pseudomonas.

What treatments are available for people with severe PCD?

Currently, treatment is focused on managing symptoms by:

aggressively treating infections (often requires IV medications and permanent intravenous lines)
using supplemental oxygen
using airway clearance (Chest PT, Aerobika/Acapella/PEP/vest) to improve mucociliary clearance

Azithromycin (also known as Zithromax) is used in many patient with PCD to help decrease inflammation and frequency of infections.

Sometimes, even with aggressive treatments and patients’ very best efforts, people with PCD can develop respiratory failure (their lungs are not working well). At this point, the only therapy available is lung transplantation which has serious complications on its own.

We are working on finding a cure for PCD and there are research studies that offer the opportunity for patients to take advantage of therapies that work on treating PCD.

How long do people with PCD live?

This is a tricky question and difficult to know because right now we don’t have enough information to predict how long people with PCD live in general. That’s why it is important for people with PCD to participate in the PCD Foundation national registry where information like life expectancy are tracked.

There are some reports that some people with PCD die younger than expected, typically due to failure of their lungs. On the other hand, there are also reports of people with PCD living into their 70s and 80s.

Some people with PCD can have significant impairment which affects their ability to work and do the things they love to do so it is really important to take PCD as a serious disease and follow your PCD doctor’s recommendations so you/your child can live a long and healthy life.