Rare diseases: more frequent than you think

In Central Hesse, a strong network of industry and research creates special attention and help for patients with rare diseases. Sabine Pitschula is one of them. On the occasion of Rare Disease Day on February 28, presenter Dr. Eckart von Hirschhausen spoke with her and medical experts from a competence network about the often long road to diagnosis and the therapeutic options.

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Today Sabine Pitschula is a woman full of life. But her journey to a life like this was long and exhausting. Since her childhood, she had suffered from a variety of illnesses that doctors could not treat. It took about 50 years until the now 54-year-old Pitschula finally received the right diagnosis: she suffers from primary immunodeficiency – an illness which is classified as a rare disease.
On “Rare Disease Day,” illnesses like this are brought to the public eye. In leap years, February 29th is, fittingly, used to mark this occasion; otherwise, RDD takes place on February 28th annually. Patient networks, associations and companies around the globe organize events to mark this day of action, raising awareness of rare diseases and their impact. Under the slogan, “A strong network for the orphans of medicine,” patients, renowned scientists and company representatives met on the occasion of this year’s RDD in Marburg, Germany to talk about their experiences as well as their motivation to develop more education and research.
Well-known German presenter Dr. Eckart von Hirschhausen chatted with patient Sabine Pitschula and a panel that included Prof. Dr. Juergen Schaefer, who heads the Center for Unrecognized and Rare Diseases (ZusE) at the University Hospital Giessen-Marburg (UKGM), and Prof. Dr. Martin Hirsch, who holds the chair of Artificial Intelligence in Medicine at Philipps University, Marburg. In addition, Dr. Dirk Hoheisel, General Manager at CSL Behring, and Berthold Suesser, Managing Director of CSL Plasma GmbH, were also present. The panel described the complexity and challenges in the production of therapies against rare diseases. However, with the ZusE at the University Hospital Marburg, the University of Marburg, CSL Plasma and CSL Behring, important medical and technical skills are bundled in the Marburg region. Together, these organizations research and work on helping patients with rare diseases faster.

However, with the ZusE at the University Hospital Marburg, the University of Marburg, CSL Plasma and CSL Behring, important medical and technical skills are bundled in the Marburg region. Together, these organizations research and work on helping patients with rare diseases faster.

Sabine Pitschula would have been happy with a faster diagnosis. Throughout her life, she had to visit countless specialist practices before a medical professional finally diagnosed her. “Every doctor looked at me from their area of expertise, but none looked at all my symptoms together,” she recalls. At some point, she felt like she was just an “annoying” patient, and even felt medically abandoned. Pitschula had lost confidence in doctors until she met an immunologist a few years ago who was able to help her. Today, she wishes to pass on one message, above all, to others who are suffering and seemingly undiagnosable: “You are not alone.”

Detective work for medical patients

Prof. Dr. Juergen Schaefer also wants patients to know this. With the ZusE in Marburg, he and his team have created something that has become a role model far beyond Hessen. At the ZusE, both physicians and scientists search for the correct diagnosis when a patient presents an unclear clinical picture, no matter how rare the metabolic defect or immune deficiency. Since its founding in December 2013, the ZusE center has been literally flooded with patient inquiries. The letters pile up in Schaefer’s office and, despite his own long working days, the waiting time for patients is extremely long – far too long, in Schaefer’s opinion. The ZusE aims to take care of both rare and previously undetected diseases, explains Shaefer: “The patients don’t care whether the disease is rare or common. What matters to them is that they get help.”

At ZusE, the researchers have what most physicians have less of in modern medical practice: time – for patients, their medical histories and for literature searches. Time is granted by the university hospital to the ZusE team despite cost-cutting pressures in modern healthcare systems. And it is this investment in time that often leads to a diagnosis – an outcome that shows how important the time factor is in medicine. “Above all, the detailed collection of the patient’s medical history and a meticulous review of the patient’s preliminary findings are often neglected today, due to a lack of time, preventing the diagnosis of complicated diseases,” explains Schaefer.

The ZusE acronym itself is based on the name of Konrad Zuse, the developer of modern computer technology. Schaefer explains there is an important reason for this: “In addition to aspects such as imaging, laboratory and anamnesis, computer technology and artificial intelligence play a very important role in finding a diagnosis.”

Prof. Dr. Jürgen Schäfer

Computers defy bias

Virtually next door, the ZusE center has an important ally: Since 2020, Prof. Dr. Martin Hirsch has held a professorship in AI for Medicine at the University of Marburg. “I believe that medicine today is latently overtaxing the capabilities of the human brain,” Hirsch explains. Artificial intelligence, he continues, can help a doctor who feels “there’s something funny here” end up with a diagnosis. “Linking datasets are ahead of humans in some ways,” he says:

„Humans tend to have confirmation bias, which means they tend to confirm their own ideas. Computers don't do that.”
Prof. Dr. Martin Hirsch
Professor for AI in medicine

Rare Disease Day host Hirschhausen is a medical doctor. He is familiar with the challenges of bias in medical diagnosis, recalling a sentence from a medical lecture: ” ‘When you hear hoof beats, don’t think of zebras. Think of horses first. Because common things are more likely to occur than rarer things.’ But the rare disease,” Hirschhausen continues, “is much more common than you think. Still, you first have to recognize it, and that’s a big challenge with rare diseases.” Using AI, however, the facts and medical history surrounding the patient can be clarified more quickly, leaving the doctor with more time for the patient. Adds Marburg AI professor Hirsch, “This means, in the end, AI can make medicine more human again.”

The fact that Schaefer and Hirsch now both work in Marburg facilitates development in this field. Together, for example, they have compiled more than 1,000 questions for an anamnesis tool, which will be processed with the support of artificial intelligence in the future.

Juergen Schaefer has been an official “Ambassador of Central Hessen” since 2018. “Hessen, and in particular Central Hessen, is an extremely research-intensive, innovative region in the field of medicine with centuries of tradition, a great scientific location in the heart of Europe with excellent, highly motivated researchers and an incredible amount of charm – but significantly less distraction than in the cities,” he adds with a smile. “In addition, we have long held very close links in research and therapy with many companies, such as CSL Behring.”

Rare diseases

In the European Union, a disease is considered “rare” if it affects no more than 5 in 10,000 people. However, since there are more than 6,000 rare diseases, the total number of people affected is high. Immunodeficiencies, neurological defects, and endocrinological defects make up a majority of Rare Diseases. (About 80% of the diseases are genetic or contributory, and rarely are they curable.) On average, it takes five years to be diagnosed with a rare disease. In Germany alone, it is estimated that about four million people live with a rare disease; in the entire EU, it is assumed that there are 30 million people.

Blood plasma medications are essential

For more than a century, CSL Behring has been committed to helping people with rare and serious diseases. To save lives and improve the quality of life of patients as well as their families, employees are constantly researching and developing drugs and treatment methods. For example, recombinant or  blood plasma-derived products can be used to treat coagulation disorders, immune deficiencies and other chronic rare diseases, helping people all over the world, like Sabine Pitschula.

When she finally received the correct diagnosis a few years ago, she was immensely relieved. Today, she can reveal how her lift has transformed since she began the therapy she needed. “This treatment means an immense improvement in quality of life for me,” Pitschula says. She has also learned how important blood plasma is in drug production: “For me, it distinguishes life from death.”

Dr. Dirk Hoheisel, General Manager at CSL Behring, understands: “The use of immunoglobulins in particular has increased extremely in recent years. Many drugs in this group can help people with severe diseases. That’s why I expect that blood plasma drugs like the ones Ms. Pitschula receives will continue to play an important role in the coming decades.” Berthold Suesser, Managing Director of CSL Plasma GmbH, agrees with this perspective: “Plasma is a life-saving raw material. However, plasma donation is far less well known than blood donation. It’s important that we work together to raise awareness of plasma donation, because more than one million children and adults worldwide need medicines made from plasma.”

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