The long path to a diagnosis in rare diseases using PCD as an example

People who have rare diseases often are not diagnosed until after they have suffered for years. This is what happened with Christine Braune and Sven Weiboldt. Both have primary ciliary dyskinesia (PCD) and were first diagnosed when they were adults.

Starting when she was five years old, Christine Braune has had to endure nose and throat surgery on a regular basis. In addition, there were almost weekly nose and ear irrigations in hospital – and all of this was only moderately successful. Despite these interventions, she kept getting runny noses and ear problems. She also had regular coughs. After a major operation on her ear and the subsequent rehabilitation, Christine Braune finally said enough is enough. ‘When I was 18 I rejected everything. I don’t want to do this any more. I am stopping, I thought. All the surgeries, all the agony for nothing. Despite everything that had been done I was always sick’, she says today, summing it all up. What Christine Braune did not know then was that she had primary ciliary dyskinesia (PCD). She would not find this out until 15 years later by pure coincidence.

Rare disease primary ciliary dyskinesia

Primary ciliary dyskinesia, abbreviated PCD, is a genetic disorder. The movement of the cilia is defective. This limits the self-cleansing ability of the mucous membranes, especially in the nose and lungs, and it does not function properly. The mucus is not carried out, which can lead to frequent infections. Symptoms of PCD are cough, runny or congested nose, inflammation of the sinuses and ears. Men also experience infertility. In Germany, there are around 4,000 people who have PCD. But there are a number of undetected PCD patients because diagnosing PCD is very difficult.

With rare diseases, doctors are often groping around in the dark

Like Christine Braune, Sven Weiboldt also associates his childhood and adolescence with memories of being sick, surgeries for rampant polyps and non-stop doctor’s appointments. He recalls, ‘I was sick more often than I was healthy, I always had a cough, runny nose and fever, swallowed antibiotics like other kids ate Smarties, and I was constantly undergoing operations on my nose. All of this and I didn’t get better. All the torture and I still wasn’t well’. The doctors thought for many years he was an asthma-sufferer with chronic bronchitis who also had nose problems. No one ever thought of PCD. Because of this Sven Weiboldt did not get appropriate treatment and as a result he regularly got infections that spread in his lungs. In 2005, this culminated in the removal of the lower portion of his left lung lobe, which had been damaged by the non-stop infections. Sven Weiboldt is no longer in contact with his doctors from that time. He lost trust in them, he says, because the treatments didn’t help and no one was able to tell him what he actually had. He excuses his former doctors by noting, ‘From a medical perspective, PCD was even less well known then than it is now. It was therefore difficult to even come up with the idea that I might have PCD’. The doctors fumbled about in the dark for a long time and did not identify the real reason for Christine Braune’s health problems either. ‘Not knowing what is wrong is very demoralising’, says Christine Braune. She adds, ‘I was frequently referred elsewhere to explain why I had illnesses – suspected immunodeficiency, suspected rheumatism. But none of the suspected diseases applied. I became dissatisfied and lost confidence in the doctors. Then I changed doctors. Maybe another doctor will find the real reason for my poor health, I thought. After I finally got an accurate diagnosis, I let my former doctors know. Some thanked me for the information and wished me luck, others started to try to explain why they hadn’t come up with PCD’.

PCD diagnosis thanks to luck and chance

Both Christine Braune and Sven Weiboldt owe the fact that they finally got the right diagnosis, and thus efficient treatments, to luck and chance. When Sven Weiboldt’s original ENT doctor retired, a younger colleague took over. He paid close attention when Sven Weiboldt told him about the many infections, the removed lung lobe and his infertility. ‘In addition, the polyps in my nose had proliferated again. Taken together, all of my symptoms and test results made my ENT doctor to refer me to the university clinic with suspected PCD’, explains Sven Weiboldt. His suspicion was shown to be correct. ‘I was diagnosed with PCD at the age of 36. I was relieved to finally know why I was always sick. I had hope that I would finally get effective treatment’, says the now 43-year-old.

Inhalation and therapy result in stable health

‘It was a relief to get the diagnosis. I finally knew what what was wrong with me and what I can do to make it right’, says Christine Braune. Since then she has done inhalation therapy for her lungs and nose one to two times a day. This keeps her health very stable, and her pulmonary function test results remain normal. Since getting his PCD diagnosis, Sven Weiboldt has followed an extensive respiratory therapy regimen every day. He explains, ‘For my nose I inhale MucoClear 6% using the PARI Sinus. Then my nose is clear. Next is I inhale the antibiotic for my nose, to prevent inflammation. After around 20 minutes I am finished with my nose treatment. Then I do the inhalation therapy with the eFlow for my lungs. For my lungs I also I first clear secretions from my airways and then inhale an antibiotic. I am happy to finally have effective treatment. I am sick much less frequently and my health is now stable’.

Note: The statements made in the report are the individual view of the persons reporting. They do not necessarily reflect the PARI view or the general state of science.