This is a very long post please forgive the length but there is so much information I don’t know where to begin.
When we were prepping for Sophie’s surgery this past April we met with a Pulmonologist and her senior. Sophie needed to be cleared for surgery and the ENT suggested pulmonary review Sophie’s medical history to possibly help figure out why Sophie’s health has continued to deteriorate. It was at this visit that I was told about PCD and it was advised that a lung biopsy be taken to test for this disease. I agreed.
PCD stands for Primary Ciliary Dyskinesia, an inherited disorder of motile (moving) cilia. PCD is also sometimes referred to as Kartagener syndrome (PCD with situs inversus) or immotile cilia syndrome.
Effective activity of motile cilia is required to keep the lungs, sinuses and ears free of organisms and debris that can cause infection and disease. A person with PCD experiences chronic, recurrent infections in the lungs, ears and sinuses due to the loss of ciliary activity in those areas. Faulty determination of organ placement (aka ‘situs’) may result in reversed organs or in other organ placement/development abnormalities.
How does PCD affect the lungs?
Our bodies need oxygen to survive. The best way to get oxygen from the outside atmosphere is to breathe in large amounts of air through the nose and mouth into the lungs where it is absorbed into the blood stream and pumped by the heart throughout the body. Unfortunately, outside air also contains things we don’t want in our lungs, like pollutants, germs and dust.
These unwanted particles are breathed in, as well. Sometimes these particles can be dangerous or cause disease, so the body has developed an elegant system for removing unwanted particles called mucociliary clearance. Mucociliary clearance consists of cilia in the right quantity and of the right length beating vigorously in a set pattern in a fluid layer in the airways. This fluid layer is topped by mucus of a very specific stickiness and amount that traps debris and pathogens. The ciliary activity underneath this sticky mucus moves the mucus toward the mouth where it can be coughed out or swallowed. Together, properly functioning cilia, mucus of the right stickiness and quantity and a vigorous cough provide an important line of defense for the lungs.
When any of these three components is impaired, the lungs are not able to effectively remove inhaled particles. Sensing the presence of unwanted elements, the lungs step up production of mucus to flush them out. If the mucus cannot be moved because it is too sticky (as in cystic fibrosis), the cilia aren’t beating (as in PCD) or cough is impaired (as in a number of neuromuscular disorders), a vicious cycle of mucus over-production, inflammation and infection occurs. In time, repeated and chronic infections actually damage the airways, a condition known as bronchiectasis, and the cycle continues to get more severe.
In PCD and CF, the mucociliary clearance system is profoundly damaged from birth. In PCD, cough is generally spared, which may explain why lung damage in PCD usually progresses more slowly than in CF. In CF, extremely sticky mucus makes cough ineffective, as well, so all components of primary lung defense are impaired. In both disorders, bronchiectasis is nearly universal and as it progresses, more serious infections with difficult to treat bugs become common.
For patients and parents, early clues to diagnosis include respiratory problems that begin at birth or within the first few months of life. Daily (or very frequent) cough is present, often wet-sounding. Drainage from and/or plugging of ears and constant ‘drippy’ nose are common complaints. Noisy breathing and the production of lots of sputum can lead to a misdiagnosis of asthma. Failure to respond to typical asthma treatments is often reported. Recurring bouts of bronchitis or pneumonia, sometimes with unusual organisms causing the infections, are typical.
Many families also report frequent headaches, both sinus-related and non-sinus related, stomach and GI complaints, failure to gain weight and unusual fevers, although these are not known to be specifically relate to PCD at this time.
In our case Sophie as almost all the symptoms of PCD, it explains so much of her health complications from birth.
Last week I received a call from Dr. Guimbellot the pulmonologist who treated Sophie at UNC, her biopsy results were finally back. Sophie did have the markers for PCD but Dr. Lee needed to review the results. Dr. Lee is one of the few doctors who specializes in PCD as it is a rare disorder. Once Dr. Lee reviewed the results and Sophie’s medical history they would get back to me. Days later I received a call asking if we would be willing to submit DNA samples for Sophie, my husband and myself. Of course I agreed and am waiting for the kits to arrive.
Today I received a call from Dr. Guimbellot, my heart was pounding as she explained that Dr. Lee had reviewed the biopsy’s and confirmed that we are in fact dealing with PCD. My heart sank, time stood still and I felt as if I could not breathe.
PCD is a disorder that affects many aspects of the individual’s health and ends with the deterioration of the lungs. Right now I feel an overwhelming feeling of desperation and sadness. I don’t think my heart can hurt anymore than it already does.
Next week I have a conference call with both Dr. Guimbellot and Dr. Lee to discuss the disorder and treatment plan. I am hopeful we can find someone in Florida who can treat her, there are not many doctors that treat this disorder.
So here I am trying to be strong. Praying for strength and guidance and trying to hold onto my faith. Ultimately, taking one day at a time.