Rare Diseases: "Often, the diagnosis was only flaky"

To the person

    Teacher. Dr. Jürgen Schäfer directs the center for rare and unrecognized diseases of the Marburg University Hospital. Originally, the doctor worked as a founding professor in cardiology. Through a small seminar on the television series Dr. House, with which he wanted to arouse the interest of medical students for rare diseases, he was rather accidentally a caregiver of people with rare diseases, makeup in Germany only, representing 5% of the population and often finding no point of contact.

Good medical ONLINE: Mr Schäfer, you are committed to rare and unrecognized diseases. Which case do you remember most?

Jürgen Schafer: For example, we found in one patient tropical parasites responsible for schistosomiasis. In Germany, these pathogens should not exist. When the man came to us, he suffered from intestinal disorders, severe inflammation and sometimes bloody stools for five years. If he was bathed in the Nile, the diagnosis would have been immediately clear. But it has never been in areas where these pathogens are present.

How did you find the parasites?

Shepherd: We were fortunate that colleagues in our lab performed a tailor-made test of every possible worm, with which we could prove tiny traces of this parasite's DNA. A friendly veterinarian and parasitologist from Egypt then isolated for us the eggs from the stool sample, which were produced in very small quantities.

Good medical ONLINE:
Where does the worm come from?

Shepherd: Our patient had entered the aquarium about six months before the onset of symptoms. But not as you and I know it. He had set up more than 20 ponds and reared rare shrimps, passed them on and ordered new ones through fairs and bulk purchases – apparently, they came from areas of the world where bilharzia is widespread. Local breeders have probably caught not only shrimp, but also snails as bycatch in the pond carrying these pests. Of course, this unusual case should not disturb thousands of aquarists, all of whom have a safe and very enjoyable hobby.

Good medical ONLINE:
And yet, this is an example of the impact of globalization on medicine.

Shepherd: That's right, you do not have to go to Egypt today and immerse yourself in the Nile to contract schistosomiasis. You can also send Nile water by express in Germany and keep your hands clean. Mail order on the Internet opens up potential routes of infection that are still underreported.

Good medical ONLINE:
Some of your patients have been confused for years between doctors. Then they will receive a diagnosis from you. What are you doing differently?

Shepherd: We are not better doctors and we do not solve everything. We have the luxury of taking our time, working as a team and being supported by a small dedicated research laboratory. All of this is essential in complex cases. In our work, we often discuss individual patients with ten different people, ranging from general practitioners to psychosomatic patients. Although it only takes 15 to 30 minutes per patient, we have invested a total of 2.5 to 5 hours and medical phlegm, which you will never do in normal practice.

Good medical ONLINE:
When do you give up looking for a physical cause and declare yourself embarrassed by your psyche?

Shepherd: Mental and physical complaints are often closely related, so psychosomatic is so important to us. But finding nothing does not mean that something has to be psychological. For a long time, medicine also thought that gastric ulcer had psychological causes, and for months, psychotherapy was offered to patients with stepmother because of stress.

Today, we know that the trigger is usually a treatable bacterium, Helicobacter pylori, whose Australians Barry Marshall and Robin Warren discovered the Nobel Prize in 2005. In other words, we would be well advised in medicine to maintain humility. We know a lot, but not everything.

Good medical ONLINE:
They say that rare diseases are neglected in Germany. Why?

Shepherd: We have one of the best health systems in the world in Germany. If a person is suffering from a heart attack or a stroke, she receives the best possible care – from the ambulance to the intensive care unit. But if someone has an unreliable fever or uncontrolled body pain, there is often a shortage of contact persons. More than 8,000 people who asked for help turned to our small center in Marburg, an impossible figure to master, offering us sleepless nights. We have years of waiting. Here, health policy is needed to improve the supply of people.

Here the victims find help

Good medical ONLINE:
What should change?

Shepherd: An important first step would be for the policy to realize the implications of this problem. All rare diseases taken together affect about 5% of the German population, almost more than the FDP voters. We would then need more Rare Disease Centers developed on site and with a fair budget, with enough resources to fully care for patients – not only medically, but also on the psychosocial plan.

Good medical ONLINE:
Is not the task of the family doctor a lot?

Shepherd: The family doctor plays a very central role, he must remain the main contact person and the confidant of the patients. In very rare diseases, but it can not be left alone. We often have three to four hours of anamnesis with patients. How is this supposed to work in a normal doctor's office, where 20 patients are in the waiting room? Many patients also send us several large files. Working alone takes hours.

Good medical ONLINE:
Do you do that?

Shepherd: We have just seen a case in which a colleague on a hundred lab sheets has discovered the essential value that explains the whole disease. You will discover something like this only if you study documents intensively, page after page. But what is missing most in our system is the time.

Good medical ONLINE:
The German health system works with packages, the diagnostic delay is not taken into account in the payment. How do you finance your work?

Shepherd: Not at all. Sometimes we organize diagnostics for 1000 euros and receive a package of not even 100 euros. Once, a patient was cobalt-addicted with a broken hip prosthesis (read the full case here). He had been sick for a year and a half and was going from clinic to clinic. If we had not recognized the problem, he would have been sentenced to death. Nevertheless, the health insurance of our clinic had to reduce the reimbursement because we had exceeded by a few days the duration of their stay in the hospital. Rare diseases simply do not fit into a cover system.

Good medical ONLINE:
There is your team yes. How do you finance yourself?

Shepherd: Fortunately, our management sees the need to create such a center in a university hospital and supports us to the maximum. Like many other university clinic facilities, we are also cross-funded by other more profitable areas. In addition, our research is supported by a private foundation. Because we can learn a lot from research on rare diseases, even for the most common ones. There is practically nothing in medicine that has not been inspired by these "extremes of nature".

Good medical ONLINE:
What are you thinking about?

Shepherd: Take lipid-lowering medications: Some people with a very rare genetic abnormality have more than 800 mg / dL of LDL-cholesterol in their blood. Values ​​below 100 mg / dL are ideal. In the absence of treatment, people die of a heart attack or a stroke at the age of eight or ten years. These cases have already shown our predecessors that a lot of cholesterol must be bad for the heart. As a result, basic researchers, as well as the research-based pharmaceutical industry, have developed lipid-lowering drugs. Today, they are a big deal and the fat metabolism disorder is treatable.

Good medical ONLINE:
You work with developers on computer systems to make your job easier. What do you want to do?

Shepherd: For me, the thousands of assistants are a nightmare. I hope that with modern computer technology, we will be able to record case history more quickly, quickly recognize symptoms and assign diseases. There is already software in which you enter individual symptoms and then generate diagnostic suggestions.

Good medical ONLINE:
For example?

Shepherd: Juvenile cataract, thickening of the Achilles tendon and arteriosclerosis. Together, they constitute a clear indication of a cerebrotendinous xanthomatosis (CTX). If it is recognized early, the disease can be treated, otherwise it damages the vessels, tendons and brain in young adults. One day I had a patient who had been operated on cataract in adolescence, but it took 20 years to get the correct diagnosis.

We all already have the necessary data – cataracts, thickened Achilles tendon – they go hand in hand with the family doctor and the health insurance companies. We just have to connect them intelligently. The patient's electronic record could help here and is long overdue. It is embarrassing for us as a high-tech industrial nation that we can not manage that. Almost more embarrassing than Berlin airport.

Video report on rare diseases: "You think that the child is dying"