Frankfurt University medical student Juliane Pfeffel is 23 years old, and for almost the same number of years a man whose case she is studying has been suffering from a mysterious illness. Once a high-performance athlete, he can now only walk with the help of a rollator. Pfeffel has been assigned to investigate his records as part of her Internship at the Frankfurt Reference Centre for Rare Diseases. Her job description: Medical Detective work. It’s a concept that is of very much interest around the world these days, if for no other reason than the popularity of the US TV series Dr. House - in which doctors try to ‘think outside the box’ while diagnosing and treating some hitherto unrecognised illnesses. A core idea at the Frankfurt centre is that a student can sometimes find a solution (in a case) where all the specialists have failed. According to the Centre’s Director, Professor Thomas O.F. Wagner, students have not (yet) developed a ‘narrow’ specialised view of a medical problem at hand, and so are more open and less biased. “They don’t immediately reduce a patient to a specialised area or an organic system,” he says. Also, they are very highly motivated.
Since 2011, Frankfurt University Clinic has offered consultations for patients whose illnesses have persisted without any diagnosis of their problme(s). Most of the people have visited multiple specialists and have been repeatedly told, “we simply don’t understand what’s wrong with you.” “One male patient had undergone 10 Magnetic Resonance Imaging (MRI) scans of his skull,” Wagner says, shaking his head in exasperation. In his Centre, the approach is a different one: no new examinations; instead, they look closely - and very thoroughly - at the test results that have already been documented. In most cases, patients do not even have to personally visit the Centre in Frankfurt. According to Pfeffel, each new document she sees comes as “something of a surprise.” Sometimes she is looking at temperature readings jotted down by hand, and at other times perhaps a moving personal experience written in longhand. She organises the documents and studies the test results, X-rays, doctors’ notes and sketches. Then she pores through the specialised medical literature, uses diagnostic search engines, reads medical journals and questions professors. “Our slogan is, ‘everything is important’,” says the Medical student, who is now in her seventh semester. She examines various probable diagnoses methodically. At the end, she writes a report that she presents to her colleagues in a weekly team meeting. In the case of the man now reduced to using a rollator, she had proposed that he was suffering from an extremely rare disease that so far had only been identified in Scandinavia. She asked the patient whether he had any relatives there, and suggested a genetic screening test. The case has not yet been closed. Other cases, however, have been happily resolved. There was one involving a man who, for 10 years, was plagued by periodic long spells of high fever, joint pains and heavy coughing. However, every time he went to a doctor, everything was ‘found’ okay - leading to a conclusion that the man was a hypochondriac. But a meticulous study of his medical documents by a researcher at the Frankfurt Centre turned up a detail that had so far not been noticed - the man’s profession. The man was a welder. He worked without a protective mask. It turned out that he was allergic to zinc vapours. However, only in 4 per cent of cases in Frankfurt is a new and rare disease discovered (a rare disease is defined as one afflicting fewer than 5 out of 10,000 people in the population). Most of the time the illness diagnosed has already been documented by someone else and is unfortunately untreatable. The diagnosis made most often is ‘polyneuropathy’, a nerve ailment in which sufferers describe a feeling of ‘everything hurts’. But even if it can’t be healed, the patients are in one respect better off, says Wagner: “they now have a diagnosis,” and so can stop running from one doctor to the next.
Centres for unknown illnesses are found in many hospitals and university clinics; but Frankfurt is in the vanguard in getting students intensively involved, according to Germany’s National Action Alliance for Humans with Rare Diseases (NAMSE). Christine Mundlos, who receives the physicians’ inquiries at ACHSE (Chronic Rare Diseases Alliance) says that involving students is “an outstanding idea.” While their “open outlook” is helpful to the Centre and its patients, the students are also themselves learning something different. “What better preparation for the future can we wish for?” she says. Pfeffel spends about 20 hours a week at the Centre. About a dozen young people currently belong to the Team, and together they work on some 200 cases every year.
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