Rare diseases on the rise: expert Jürgen Schäfer in conversation

Rare Disease Day
Top German researcher: “We owe it to these people to take care of them”

Searching for clues in the laboratory: Around 6,000 to 8,000 rare diseases are known worldwide. Every year on the last day of February, the fate of those affected is highlighted.

© Getty Images

Today, February 29th, is “Rare Disease Day” – and the topic it addresses is perhaps more important than ever. Professor Jürgen Schäfer, also known as “Germany’s Dr. House”, explains in an interview how climate change is already giving us new, strange findings.

Professor Schäfer, you have been dealing with mysterious and rare diseases for almost 40 years. Can what you encounter surprise you at all?
Rare diseases are more common than you think. A disease is considered rare if it occurs no more than five times in 10,000 inhabitants. However, since there are 6,000 to 8,000 different rare diseases, the total number of people who suffer from them is quite large. In Germany alone, around four million people are affected. If there were a “Rare Disease Party”, then it would get into the Bundestag with more than five percent! And yes, for me, medicine is still as exciting as a crime thriller and full of surprises. Not long ago, for example, we were able to work together in our laboratory Together with a veterinarian friend, we discovered a worm called Dirofilaria repens, which was previously extremely rare in Germany. In a young patient – in a tissue sample from an unclear skin tumor. That didn’t just surprise us.

Actually, this roundworm only occurs as a parasite in dogs in warmer countries. It is fascinating and frightening at the same time that, apparently due to climate change, the development process of the Dirofilaria larva can now also take place in this country in a banal Rhine snake. The development of the larvae in a crane depends heavily on the outside temperature. At 22 degrees Celsius this takes around 16 to 20 days. However, the crane flies as host animals are often long dead or have been eaten by birds. At a temperature of 28 to 30 degrees it happens twice as fast and the larva only needs eight to ten days to develop in the fly. This means that this worm has a realistic chance of spreading in Germany on increasingly warmer summer days.

Portrait photo of Professor Dr.  Jürgen Schäfer, Marburg University Hospital

Professor Dr. Jürgen Schäfer, born in Karlsruhe in 1956, heads the center for unrecognized and rare diseases at the Marburg University Hospital.

© H. Grassmann / Philipps University of Marburg

How does an infestation manifest itself in humans?
Ultimately, humans are absolute hosts for this canine parasite. If a person is bitten by an infected mosquito, the larvae of the worm usually nest in the skin tissue and cause a painful swelling. The surgeons removed this lesion from our patient, and his extremely dedicated family doctor asked us to find out exactly what it was. We then discovered the worm DNA of Dirofilaria repens through genetic analyzes from the tissue sample. The operation removed the worm and the patient does not have to worry about any subsequent damage.

And yet every case is so exotic. What does everyday work look like for you and your team?
We are particularly scientifically involved in the area of ​​lipid metabolism, which is why we care for patients who have rare lipid metabolism diseases. As with all university hospitals, a large number of other rare diseases are also treated within our university clinic. These include rare tumors that arise from hormone-producing cells, blistering skin diseases, congenital malformations of the blood and lymph vessels, rare forms of leukemia, malignant diseases of the pancreas or fever syndromes. Since we specialize primarily in adult patients, we often see people who do not actually have a rare disease in the true sense, but who are suffering from poisoning, an infection with parasites or “just” a rare medication side effect.

Rare side effect?
One time it was about a contraceptive: we had a case in which a patient developed depression after a hormone-releasing IUD had been inserted several weeks earlier. After the IUD was removed, the depression that had existed for years was gone. We were able to prove a direct connection. Removing the IUD replaced years of couch sessions. Another patient experienced paralysis due to a lack of vitamin B12 caused by a diabetes medication. Precisely because diabetics often suffer from nerve diseases, more attention should be paid to vitamin deficiencies.

The waiting times at the Center for Unrecognized and Rare Diseases at the University Hospital of Marburg, which you run, have always been very long. Has the situation for patients improved now?
There is now a center for rare diseases at every German university hospital – with excellent experts who are in no way inferior to ours in Marburg. In this respect, I definitely see improvements. Nevertheless, we still receive around 1,000 inquiries per year at Marburg University Hospital. Fortunately, we can refer some of those seeking help to other centers close to home. To find the nearest center is the
SE Atlas very helpful. The work of patient associations such as AXIS eVor from support associations like FusE Hessewho have already achieved a lot for those affected.

So everything is good?
No, because processing the cases of the inquiring doctors remains time-consuming. That’s why the waiting time for those seeking help is still very long. Many of those affected, but also we ourselves, find this very stressful. It is important to us that the inquiries come from the caring family doctors or clinics so that we can be sure that the recommendations we have developed will be implemented. This is all the more so because we currently do not offer any special consultation hours for patients directly, but rather review all findings in the sense of a second opinion procedure and recommend further steps based on this. Close cooperation with family doctors is important for this.

The fate of people with rare diseases is increasingly being perceived by society and is recognized by those responsible for politics as an important task for our health system.

How is your department staffed and financially equipped?
So far, our small center has been fully cross-financed by the Marburg University Hospital, for which we are very grateful. In the last few months, however, a lot has changed: Nationwide, the centers for rare diseases have been recognized as an important care facility by the joint federal committee and by the states included in the framework plan. Now, for the first time, the hospitals can talk to the payers about financing, which has not previously taken place. The support we receive from our IT department, our Institute for Artificial Intelligence and our institute for artificial intelligence is also extremely helpful for us in Marburg through digital medicine. Because without IT support, we will never be able to process all of our requests in the future. And what also helps us a lot: the fate of people with rare diseases is increasingly being perceived by society and by those responsible for politics as an important task for our health system recognized.

Do you support politics?
Fortunately, there are initial approaches. In Hesse, for example, the new state government’s “strengthening of centers for unrecognized and rare diseases” was included in its coalition agreement. We hope that the goals will also be implemented in the coming months. And we hope that other state governments in Germany We will follow the example of the Hessian politicians and also strengthen their centers. Because in doing so we are helping many patients with a rare disease who are currently falling through the cracks in our actually very good health system. We owe it to these people and also their relatives to that we take more care of them – and not just on February 29th.

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