Sometimes, even a trusted specialist in a disease knows no further. Then, it may be useful to contact a Center for Rare Diseases. Interview with Prof. Dr. Jürgen Schäfer alias Dr. House.
The American series „Dr. House“ is known by many. Here, a headstrong doctor Gregory House, looks for the correct diagnosis in mostly critically ill patients. In the end, he is often successful, the disease is not being identified by his colleagues, since it was a so-called rare disease.
The doctor Prof. Dr. med. Jürgen Schäfer from the University of Marburg used the popularity of Dr. House to draw attention to rare diseases. His lecture series „Dr. House revisted – or: Would we have healed the patient in Marburg?“, was received first by medical students and then by the public media. Today, he is a popular specialist for rare diseases nationwide. Thanks to his commitment, there are now 31 centers for rare diseases throughout Germany.
Clinic Compass: Rare diseases are defined by the fact that they occur only once in 2,000 people, which means they are rare. How many rare diseases are there?
Prof. Dr. Jürgen Schäfer: There are about 8,000 different “rare diseases”, so the total number of people suffering from a rare disease is quite large. In Germany alone, about 4 million people suffer from a rare disease. That is just under 5% of our population!
What do you do better than other doctors when diagnosing rare diseases?
Prof. Dr. Jürgen Schäfer: Nothing, really nothing. We are also just normal doctors, really not better than others. If we solve one or the other case, which could not be solved elsewhere, it is only because we have regular interdisciplinary team discussions, with extremely dedicated employees, who literally bite into the cases. In addition, as a university hospital, we simply have unbelievably many technical possibilities, both in the laboratory and in the area of modern IT systems, which we also use intensively.
How exactly do you use IT technology in your daily work?
Prof. Dr. Jürgen Schäfer: For us, the use of modern software systems is extremely important. As I said, we are no better than other doctors and none of us is „Dr. House“. With modern support systems, we have the medical knowledge of the world almost directly at hand. This is a treasure that many colleagues still do not use adequately at the moment and that will change medicine in the short term.
Which specialist areas are represented at the Center for Unrecognized and Rare Diseases? From which medical field do most patient inquiries come?
Prof. Dr. Jürgen Schäfer: Ultimately, we have represented almost all areas of internal medicine from oncology to nephrology as well as neurology, psychosomatics, general medicine and laboratory medicine. Since we are now focusing on adult medicine, we are currently still missing the pediatrics. For special questions, we ask colleagues from the respective areas, such as dermatology, ENT or eye clinic to support us. Many patients report neurological problems, but many also have pain or gastrointestinal problems. Since we are often dealing with long-term developments, sometimes with severe psychological stress, the psychosomatist plays a very important role in our team and is involved at an early stage.
You advise patients to be present at the Center for Unrecognized Diseases. Before a treatment, all previous results should first be sent in, so that you can discuss them intensively with colleagues. That sounds like a very labor intensive patient care. How many patients can you treat over the year?
Prof. Dr. Jürgen Schäfer: Ultimately, we are not able to cope with the great flood of inquiries and requests for help as a small center on our own, and we can only process a fraction of more than 6,000 inquires. Here, local utilities are required, which often also provide excellent centers, so that it is not necessary to drive across the country to Marburg. But for us – as for the other centers alike – not only the large number of inquiries is a challenge, the complexity of the individual cases requires a very conscientious and time-consuming work. Recently, it was only because of this that we were able to solve the – very rare – case of hypophosphatasia, because our colleague had picked up a unique value for a very low alkaline phosphatase in a mountain of medical reports. In the quick cross reading, this finding was lost with the previous colleagues. This also makes it clear, that for us the most important – and at the same time tightest – is time.
What is the toughest nut you’ve ever cracked along with your colleagues?
Prof. Dr. Jürgen Schäfer: Oh dear, that is hard to say. It is interesting that in retrospect everything always looks so easy, even if you have really lost your teeth before. Be it a never-described mutation in a potassium channel, that leads to intermittent paralysis, schistosomiasis from the aquarium, which has never before been described, but becomes possible in the age of internet ordering or the unrecognized side effect of a hormone-releasing contraceptive spiral, which led to severe depression and headaches and years of sick leave – all cases that have given us some headaches and in retrospect seem so logical and simple. Anyway, we never get bored and it’s just right: medicine is sometimes more exciting than a thriller.
Prof. Dr. Schäfer, thank you for your answers!
Prof. Dr. Jürgen Schäfer heads the Center for Unrecognized and Rare Diseases at the University Hospital Marburg. He is a trained internist and was appointed in 2005 to the nationwide first professorship for preventive cardiology in Marburg.