My name is Catherine and I was formally diagnosed with Primary Ciliary Dyskinesia (PCD) in 1980 at the age of 11. PCD is a rare genetic disease, an inherited disorder of motile (moving) cilia. PCD is also sometimes referred to as Kartagener syndrome (PCD with situs inversus) or immotile cilia syndrome.
PCD affects ∼1:20 000 individuals with a reported prevalence of 1:4000 to <1:50 000.
I was born premature by one month. My lungs collapsed early and I was placed in intensive care. My mother knew something was not quite right and I was tested for cystic fibrosis (CF) several times, but these results always came back negative. Doctors completed test after test and at the age of four, I had my middle right lobe in my lung removed because of bronchiectasis damage. Reasons were still unknown as to why I had so much lung damage at a young age.
I still had recurrent chest infections, which placed me in hospital several times a year. More tests were run and after a biopsy of my left lung, doctors found residue of stomach acid/fat in my lungs. This led to a test to see whether I had reflux.
I was meant to have the test whilst awake, however, putting a tube up an 11 year old’s nose that went into her stomach was not a pleasant experience and I could not tolerate it. I was then sent to another hospital, where the doctors gave me nitrous oxide so they could place the tube in. Whilst this was being done, one of the doctors said he wanted to take a nasal scraping from my nose to have the cilia tested. The results of the test regarding the reflux were confirmed and I had a Nissen fundoplication a month later on my stomach. This is an operation to prevent acid reflux.
My tests were sent off to Canada where, after one month, we had a result. The test came back saying I had immotile cilia syndrome. These days, patients have the test for PCD whilst awake in a clinical environment.
Now that we had a diagnosis, the correct treatment could be provided to maintain healthy lungs. Up until this stage, I had been treated and grouped in with CF patients. I would still have hospital treatments on a regular basis – two weeks in hospital for intravenous antibiotics three times a day. This would have a major impact on me mentally, socially and physically.
When I was 25, I suffered a major setback and had to have surgery on my left lung. I had pelorias and was admitted to hospital. A few weeks later, I was still not feeling well and was starting to struggle to breath even with pillows propped up behind me. I rang my GP and he stated, “It sounds like you have a collapsed lung.” I took myself to hospital and upon entering the emergency department, collapsed in the hallway. It was discovered, after a drain and surgery, that I had accumulated three litres of fluid (pus) in my lungs. Recovery was long as I had lost a substantial amount of weight.
These days, hospital admissions can vary from one admission a year to three per year depending on what is happening in my life. At one stage, I was frustrated and felt like PCD needed more of a voice. So, I started a PCD Australia support group as the few families I came across had no access to support once they left the hospital. Once diagnosed, people were often researching and getting advice from doctor Google. PCD Australia is now in its eighth year and is starting to make an impact. We are a registered charity and foundation. We’re also an RVA Partner.
Starting this group made me feel like I was making a difference and showing parents that while PCD is a rare disease, you can still have a good life. Setbacks and highs and lows will still happen and there are days when you think life’s just not fair, but you make the best of what you have. These days, I am under the care of a great team of doctors and ancillary staff. I love the community we have built and I think it is my greatest achievement. I’m also an Associate Investigator on the Committee for the first randomised control trial study for PCD.
Please check the Rare Disease page(s) for related Support Organisation(s)
Primary Ciliary Dyskinesia