Rare Day – Rare Disease

On 29 February 2020, the 13th International Rare Disease Day took place. This day was established to raise the awareness of the general public, the political decision-makers and researchers about rare diseases and the interests of those affected. Naturally, there are also rare diseases among the pulmonary diseases, like sarcoidosis, bronchiectasis or alpha-1-antitrypsin deficiency. We would like to use this year’s Rare Disease Day as an opportunity to shine a light on the symptoms of primary ciliary dyskinesia (PCD) and Kartagener‘s syndrome.

Primary ciliary dyskinesia (PCD) is a rare inherited disease which affects the mobility of the cilia. Cilia are to be found on most human somatic cells where they are usually immobile. Mobile cilia are found in the airways and in cerebrospinal fluid cavities. If the mobility of the cilia in the airways is limited by the PCD, mucus and other material can no longer be transported away from the lungs, which can lead to inflammation. Those affected suffer from chronic sinusitis or middle ear inflammation.

During embryonic development, the beat pattern of the cilia controls the arrangement of the internal organs. If the beating of the cilia is disturbed by the PCD, it may transpire that the internal organs are laterally reversed. In about 50% of the PCD patients, this mirror-reversed arrangement, also known as situs inversus, may occur. This particular type of PCD is known as Kartagener’s syndrome.

Sven Weiboldt is one of those affected and in 2013 he was diagnosed with PCD at the MHH. The path to this diagnosis was difficult and had many twists and turns. Already at birth, the doctors noticed that there was something wrong with his breathing but considered this to be a result of his swallowing amniotic fluid. For many years, the 45-year-old suffered from fever, shivering and repeated bouts of airway infections. Again and again, he was prescribed antibiotics to treat the symptoms, but the real cause of his complaints remained a mystery for a long time. He had to undergo a total of 6 nose operations on recurring polyps due to inflammation and, in 2004, his lower left lung lobe was removed. Both his family doctor and otolaryngologist continued to have no explanation for Sven Weiboldt’s illnesses and presumed asthma, bronchitis and house dust allergies. Only in 2013, when he was by chance examined by a specialist at the MHH, did he at last receive confirmation and the diagnosis of PCD.

In Germany, there are only about 4.000 PCD patients, and accordingly the knowledge held by general practitioners about this condition is limited. It is presumed that the estimated number of undetected cases is higher, since the diagnosis is difficult, as seen in Mr. Weiboldt’s case. PD Dr. Felix C. Ringshausen is Senior Physician in the Clinic for Pulmonology at Hannover Medical School and a scientist at the German Center for Lung Research (DZL). His specialist area is the treatment of rare lung diseases, including PCD. He too finds again and again that the diagnosis of rare diseases is a lengthy process, often taking many years. „Particularly for general practitioners, rare diseases are difficult to recognize“ says Dr. Ringshausen and he thus recommends that, when there are persistent, unexplained medical conditions, a consultant should always be approached and further specialists called in if a rare disease is suspected.

Mr. Weiboldt was relieved to receive this diagnosis – not because the disease is curable, but rather because he now simply had certainty. At the same time, the diagnosis also brought with it limitations in his daily life, such as avoiding large crowds of people or wearing a respiratory mask to avoid infections. Mr. Weiboldt received assistance in coping with these changes both online in forums and from the Kartagener’s Syndrome and Primary Ciliary Dyskinesia Association (Kartagener Syndrom und Primäre Ciliäre Dyskinesie e.V.). Susanne Böker is the Vice Chairperson of the patient organization and is herself the mother of a son affected by this disease. She reports: „It is very often not easy for those affected to obtain information on rare diseases from their general practitioners. I would therefore suggest that patients engage in discussion and exchange amongst themselves.“ A great help in this regard are social networks like Facebook, that clearly simplify and speed up communication. One group of affected persons set up on Facebook has, in the meantime, 500 members who regularly communicate with one another.

The self-help group set up in 1997 continues to develop and endeavors to support those affected in the best possible way. The annual meeting of patients has been expanded to include a workshop for young people. Susanne Böker knows that: „young people have different questions and worries to those of adults – for example, which occupations are suitable later on for those affected with this disease, or the question of infertility that frequently occurs in male PCD patients.“ For Sven Weiboldt too, this is a significant issue. The impact of childlessness on his relationship and the worry of not being able to be part of a normal relationship in daily life led Mr. Weiboldt to also seek psychological support from a therapist. This helped him to process the diagnosis and its effects.

Both Sven Weiboldt and Susanne Böker relate that affected persons and relatives of those affected with rare diseases are often better informed than general practitioners. Therefore, they welcome the concerns addressed by the Rare Diseases Day. Both of them would wish that when diagnoses are made, rare diseases such as PCD are taken more into account. After diagnosis, it is important that sufficient time is given to those affected and points of contact named to deal with any questions. Susanne Böker emphasizes how important it is that parents are sufficiently informed about the rights and possibilities of their affected children and also to bring clarity and transparency in their care through health insurance. Rare Diseases Day should also be used to inform the wider public about the adverse effects experienced by PCD patients and thus make sure of their better inclusion and less exclusion.

As a scientist at the German Center for Lung Research (DZL), Dr. Ringshausen studies new treatment possibilities and works with pharmaceutical companies to register new medications. „From political decision-makers, I am hoping for more support in the research of rare diseases, since they can also offer knowledge about more widespread diseases,“ says Ringshausen. „Accelerated and simplified registration methods could offer an incentive for researching pharmaceutical companies to become more involved in rare diseases like PCD. Even patients with rare diseases must be heard and use events like the Rare Diseases Day to draw attention to themselves.“

In order to increase the awareness of general practitioners towards rare diseases, the Hannover site of the German Center for Lung Research (DZL) has organized an Expert Forum on Rare Pulmonary Diseases on 04.03.2020. More information on this can be found on our homepage.



DZL scientist and senior physican at the Clinic for Pulmonology at MHH PD Dr. Felix Ringshausen