This man finds rare diseases

SPIEGEL ONLINE: Mr. shepherd, you have dedicated to the rare and unrecognized diseases. Which case has particularly remained in your memory?

Jürgen Schäfer: We have, for example, in a patient with tropical parasites found, the schistosomiasis trigger. In Germany it is not likely to give these pathogens at all. As the man came to us, he already had five years of bowel problems, severe inflammation, sometimes bloody stools. He would have bathed in the Nile, would have been the diagnosis immediately clear. But he was never in areas where these pathogens occur.

How have you found the parasites?

Schäfer: Our luck was that the colleagues in our laboratory, a self-made Test on all possible creeping things, tinkered with the we tiny traces of DNA of this parasite could demonstrate. A friend of mine, a veterinarian and parasitologist from Egypt has isolated for us, then the eggs from the stool sample, which occurred in very small quantities.

SPIEGEL ONLINE: Where did the worms come from?

Schäfer: Our Patient was about half a year before the complaints had started in the aquarium hobby entered. But not so, as you and I know it. He had set up more than 20 pools and rare shrimp are bred, and to the fairs, and in large shopping again new ordered – and obviously came from regions of the world where schistosomiasis is widespread. The local breeders have probably fished next to the shrimp even snails as a by-catch from the pond, which carry these parasites. This unusual case should not now confuse, of course, thousands of aquarists, the operate overall, a safe and a very nice Hobby.

SPIEGEL ONLINE: And yet, it is an example of how strong the globalization of the medicine.

Schaefer: Right, you need to today, not after Egypt and with the feet in the Nile splashing, to bilharzia to get. You can also Nile water by Express to Germany, and here the Hand. The Internet mail-order trade open potential routes of infection are still observed far too little.

SPIEGEL ONLINE: Some of their patients for years unsuccessfully from doctor to doctor wrong. Then you get a diagnosis. What do you do differently?

Schäfer: We are no better Doctors and not everything is solved. We only have the luxury to take our time, to work in a Team and to be a small, private research lab. All of this is in the case of complex cases is essential. In our work, we discuss individual patients, often with ten different people, from General practitioners to the psychoso technology. Even if the are only 15 to 30 minutes per Patient, we have invested a total of 2.5 to 5 hours of time and doctor brains, you get in a normal practice, never.

SPIEGEL ONLINE: when do you search for a physical cause and explain the complaints with the Psyche?

Schaefer: Mental and physical complaints are often closely linked, therefore, psychosomatic medicine is so important for us. But just because you find nothing does not mean that something must be psychologically caused. The medicine thought for a long time that a stomach ulcer would have primarily psychological causes, and has treated patients for months due to Stress with the mother-in-law psycho.

Today we know: The trigger is a treatable bacterium, Helicobacter pylori, its discovery, the Australians Barry Marshall and Robin Warren in 2005 received the Nobel prize is usually. You mean: We would advise in of medicine, to preserve humility. We know a lot, but by far not all of it.

SPIEGEL ONLINE: you say that rare diseases in Germany are neglected. Why?

Schäfer: in Germany We have one of the best health systems in the world. If someone suffers a heart attack or stroke, he gets the best possible care – from ambulance station wagon up to the intensive. But if someone has an unclear fever, or an unclear whole body pain, often lack the Contacts. Alone at our small centre in Marburg more than 8000 in need of help have contacted the end, a manageable number that gives us sleepless nights. We have year long wait times. Here, the health policy is required, in order to improve the supply of the people.

SPIEGEL ONLINE: What needs to change?

Schaefer: A first important step would be for the policy the scope of this problem, detects. All rare diseases affect about five percent of the people in Germany – almost more than the FDP-voters. Then we need more home, fair-funded centres for rare diseases, which have enough resources to attend fully to the patient not only medically, but also psycho-social.

SPIEGEL ONLINE: Is not much also the task of the family doctor?

Schaefer: The family doctor plays a Central role, he must be the main point of contact and person of confidence of the patients remain. In the case of very rare diseases, he must not be left alone. We lead with patients often three to four hours, medical history interviews, how to work in a physician’s office, in the 20 patients sitting in the waiting room? A lot of patients to send us several thick file folders. Alone you to work through, it will take hours.

SPIEGEL ONLINE: you do?

Shepherd: We just had a case where a colleague from a hundred the laboratory, notes the decisive value fished out, the whole disease. So something can be discovered only if one has worked intensively with the documents, page by page. But time is what is missing in our System the most.

SPIEGEL ONLINE: The German health system works with flat-rate, time-to-diagnosis is when the payment is not taken into account. How do you manage to Finance your work?

Schaefer: not at all. Sometimes we can initiate diagnostics, for 1000 Euro and get a lump sum of 100 Euro. Once we had a patient that has suffered due to a defective Hip replacement cobalt poisoning (the whole case, you can read here). He was already 1.5 years sick, and was passed from clinic to clinic. We would not have detected the Problem, he would have been destined to die. Nevertheless, the health insurance, our clinic had to cut the reimbursement of costs, because we had exceeded, according to their estimation, the time spent in the hospital a couple of days. Rare diseases just don’t fit in a flat rate system.

SPIEGEL ONLINE: There is your Team, Yes. How do you Fund yet?

Schaefer: Fortunately, our management of the necessity of such a centre at a University hospital and supported us, as well as it goes. Like many other institutions at University hospitals, we shall also be financed from other areas, the profitable are. In addition, our research of a private Foundation, is supported. Because of the research into rare diseases, we can learn very much, also for the frequent. There is hardly anything in medicine, that was not inspired by these “Extremes of nature”.

SPIEGEL ONLINE: What are you thinking?

Schaefer: we Take the lipid-lowering drugs: There are people with a very rare genetic disorder, which is more than 800 mg/dl LDL-cholesterol in the blood. Ideal values of below 100 mg/dl. Without treatment, patients die with eight or ten years ago of a heart attack or stroke. Through these cases, our predecessors was already clear that a lot of cholesterol must be bad for the heart. Then, basic researchers, but also the research-based pharmaceutical industry, lipid-lowering drugs developed. Today, they are a huge business and the lipid metabolism disorder is treatable.

SPIEGEL ONLINE: you Tinker with developers of computer systems, the easier your work will. What did you have in mind?

Shepherd: For me, are the Thousands of Help is a nightmare. I hope that we can capture with modern computer technology, the medical histories faster, the symptoms to quickly identify and diseases can assign. There are already computer software, where you can enter individual symptoms and then diagnosis of the proposals generated.

SPIEGEL ONLINE: For example?

Schaefer: juvenile lens opacity (cataract), thickening of the Achilles tendon and atherosclerosis. Together, they are a clear indication of a Cerebro tendinöse Xanthomatosis (CTX). Early the disease is detected can be treated well, otherwise it leads in young adulthood to damage to blood vessels, Tendons, and brain. I once had a patient, in which, although the gray Star at a young age and was operated on, but it took until the correct diagnosis is 20 years.

The necessary data we already have – the cataract, the thickening of the Achilles tendon – you can run both at the house doctor as well as health insurance. We would have to connect only intelligent. The electronic patient record might help here and is long overdue. It is not embarrassing for us as a leading high-tech industrial nation, that we can manage it. Almost more embarrassing than the Berlin airport.

Video report on rare diseases: “do You think, the child dies”