Rare Disease Day: The difficult path to diagnosis in rare diseases

It all started about ten years ago. Bernward Wittschier's fingers, toes and face went numb. Suddenly everything tasted salty. Today the numbness has spread further: it goes from his forehead diagonally across his head down to his shoulders.

"It's like getting ten shots of anesthetic at the dentist and the effect never wears off," said the 63-year-old in Trier. The numbness now also affects his ability to speak and swallow: "I choke 30 to 40 times a day." He is afraid that the disease will spread.

But the worst thing is: "No doctor can help me." He has been through a veritable "treatment mill." From family doctor, brain specialist, lung specialist, dentist and orthopedist - until he turned to the Center for Rare Diseases at the Saarland University Hospital in Homburg.

He had also been admitted to the neurology department several times - without a clear diagnosis or therapy being found so far, said the lawyer. "I am at a loss and also somewhat desperate."

The difficult and lengthy search for a diagnosis is well known to the experts at the Center for Rare Diseases in Homburg. "On average, it can take up to five years," said the center's managing director and guide, Katarzyna Rososinska. In extreme cases, it is only after many years, even 25 years, that we know what someone is suffering from.

Often a misdiagnosis is made. And: "Unfortunately, a diagnosis is not always found. There are cases where you simply reach the limits of diagnostics," said the senior physician.

This year, February 28 is Rare Disease Day. In leap years, it falls on February 29. Such a disease is defined as one in which there are up to 5 cases per 10,000 inhabitants, she said. In Europe, there are around 30 million people affected, in Germany there are 4 million people. There are also ultra-rare diseases that affect fewer than 2 per 100,000 inhabitants.

According to Rososinska, around 8,000 rare diseases are now known. "New ones are constantly being discovered," she said. This is also because more and more genetic tests are being carried out, which are then linked to symptoms and clinical pictures. In addition, interest in rare diseases is growing - also for political reasons.

There are 36 centers for rare diseases at university hospitals nationwide, said the doctor. They are networked with each other and exchange information. There are also cases that are referred to others because experts are known.

Patients who are unable to diagnose their illness turn to the center in Homburg, said the center's spokesman, Robert Bals. After reviewing the documents, cases suspected of being a rare disease are discussed with specialist colleagues at the university hospital. They are then distributed accordingly, for example to neurology, orthopedics or children's clinics.

On average, the center receives around 70 inquiries a year. In around a third of cases, they are able to help with the diagnosis, said the professor of internal medicine and pulmonology. In the rest, it turns out that it is not a rare disease - or the diagnosis takes a long time.

The patients in Homburg come not only from Saarland, but also from Rhineland-Palatinate, North Rhine-Westphalia and Luxembourg. Many patients who have already been diagnosed are treated every year in special outpatient clinics at the university hospital. There are around 3,000 inpatient cases.

There are hardly any therapies or medications for rare diseases because the number of cases is so small, said Bals, who co-founded the center in 2016. Approved medications are available in Germany for only three percent of these diseases.

Rososinska said that patients should "stick with it" when looking for a diagnosis. It could be that at some point a new symptom will appear that could then help to clarify the situation. The 48-year-old said she has experienced such cases herself.

Bernward Wittschier, on the other hand, is resigned after all these years of searching. "I have already done all the tests that can be done countless times," he said. Lumbar puncture, tube, nerve tests. "There were so many suspected diagnoses for me: brain tumor, Alzheimer's, multiple sclerosis. But none of them were true." He has also tried many other things: injections, cortisone, homeopathy.

A brain specialist said to him: "Mr Wittschier, I can see that you have a clear illness. You are probably one of 10, 20 or 30 people in Germany who have something like this. But I cannot tell you where it comes from."

Since 2006, the Eva Luise and Horst Köhler Foundation has been committed to improving medical care for children, adolescents and adults with rare diseases. The foundation is particularly concerned with promoting research. "Due to a lack of research, effective treatment approaches and medications are lacking," the foundation said.

The diseases could be genetic, infectious or environmental in nature. 70 percent begin in childhood, others develop later.

The idea for the foundation came from the family of the former Federal President because they knew a lot from their own experience: "the desperate search for answers" and "the years-long odyssey from clinic to clinic" - and the "helplessness in the face of a lack of treatment options".

Their daughter suffers from a rare eye disease that has led to blindness. According to the foundation, experts estimate that up to 250 new rare diseases are discovered every year.

Wittschier said he hopes that one day someone will recognize what he has. Or at least have an idea or clue as to what it could be. His greatest wish is: "To experience a completely normal day again, like 20 years ago. Where I can feel and taste everything."

© dpa-infocom, dpa:250227-930-388224/1