Rare diseases are paradoxically quite common

The Center for Rare and Undiagnosed Diseases was created - let's clarify what diseases are involved?

Prof. Piotr Pruszczyk: According to the definition, a rare disease is one that affects no more than one person in 2,000 of the population.  Thus, these conditions are paradoxically quite common. Some of them may affect many thousands of people in Poland. At the same time, there are diseases that affect dozens of people nationwide or even individual families. It is estimated that a total of 6 to 8 percent of the population in our country is affected by rare diseases. The problem therefore affects 2.5-3 million people. This is a huge, and at the same time very diverse, group of patients. They include both children and adults. With different symptoms, problems and prognoses. These individuals often go through what is called a diagnostic odyssey before they hear the correct diagnosis. They go from one doctor to another, or one center to another, trying to figure out what they are sick with and how they can get treatment.

It is said that rare diseases are very difficult both in terms of diagnosis and treatment. Is this true?

P. P.: Of course, the diagnosis of rare diseases requires specialist facilities and a physician with the appropriate knowledge and experience. However, it is important to note that we are currently experiencing a huge breakthrough in both diagnosis and treatment. A major contributor to this has been the development of genetic diagnostics. Last year also saw the adoption of the Rare Diseases Plan, a very important government document designed to introduce certain systemic changes that, among other things, will shorten the long road to diagnosis. The program is also intended to support the activities of expert centers for the treatment of rare diseases.

Do rare diseases have a genetic basis?

P. P.: Some of them, up to 80 percent of cases, are genetically determined. The remaining group are conditions of not fully known etiology. 

In what areas of medicine do we deal with rare diseases?

P. P.: In all of them. In oncology, for example, it appears that a large proportion of cancers, including hematological conditions, meet the criteria for rare diseases. Also many nephrological, metabolic, neurological, cardiovascular, pulmonological, gastrological conditions. It is safe to say that rare diseases can affect any human system.

Are there also patients with rare diseases under the care of the Department of Internal Medicine and Cardiology MUW, which you head?

P. P.: In my Department we have more than 200 such people under chronic care. These are patients who have various forms of pulmonary hypertension, patients with thromboembolic pulmonary hypertension, but also with various cardiomyopathies and channelopathies. In total, however, there are more than 20,000 people with rare diseases under the care of various units of our University and our teaching hospitals, and it seems to me that this is an underestimated number.

Did the fact that such a large number of people suffering from rare diseases remain under constant care of specialists from the MUW contribute to the creation of the Centre for Rare and Undiagnosed Diseases?

P. P.: The creation of the center stems from the fact that there are a variety of centers in our university and teaching hospitals that care for patients with rare diseases. We have units that perform advanced genetic diagnosis and describe new genetic diseases. We have perinatal care centers, maternity units caring for patients with rare diseases. We have neonatologists and pediatricians specialized in rare diseases and finally specialists who care for adult patients with these conditions. In some of our clinics, up to 40 percent of patients meet the criteria for a rare disease patient. For several years, two of our centers have been active members of the European Reference Network (ERN), i.e. the ERN RARE-LIVER Reference Centre for Rare Liver Diseases and the Euro-NMD Centre, the ERN Reference Centre for Rare Neuromuscular Diseases.
We realized how many of our centers deal with rare diseases and how much good we are doing in this area. And this became the basis for the creation of the center, which was established in the middle of last year by Prof. Zbigniew Gaciong, Rector of the MUW. Therefore, it can be said that the creation of the Center for Rare and Undiagnosed Diseases is a kind of disclosure of the existing facts, rather than creating something from the scratch.
One more aspect is worth noting. In recent months, rare disease centers have been established in various centers in Poland. And they will be created, it's an irreversible process. Our university and our hospitals have a great deal of experience and achievements in this area and have much to offer both clinically and scientifically. Many of our scientists have provided scientific and substantive support to various rare disease centers friendly to MUW. So an important argument for the establishment of the center was to try to unite our activities and to show what good work we are doing in our university and our hospitals.

How will the Center operate, what are its goals?

P. P.: The MUW Center of Excellence for Rare and Undiagnosed Diseases is intended to be a platform that enables and facilitates collaboration between various specialists. Between representatives of basic science and clinical science for example. Between specialists who treat rare diseases in children and specialists who treat the same conditions in adults. It would be my dream to have strong centers combining pediatrics and adult medicine in different areas of rare diseases. Such a combination for example in nephrology-that would be something completely unique. I also think that within the center it will be easier for us to collaborate with other centers on a national and international level. Perhaps this will also translate into easier fundraising for research and clinical activities.

Centers usually have their own headquarters, and what will it be like in this case?

P. P.: Our center will not have its own offices or beds. We do not want to create an additional unit for people with rare diseases. The goal is for our specialists to continue to work in their units and clinics and for the center to be a support for them. However, it would be good for our clinics, offices and centers within the Center for Rare and Undiagnosed Diseases to have, for example, a common logo that would identify them as working in the area of rare diseases.

The Centre is a support for specialists dealing with rare diseases. And how will patients benefit from it?

P. P.: Above all, patients will gain continuity of care. Often rare diseases are diagnosed as early as infancy, and sometimes even before birth. The University, in collaboration with teaching hospitals, has the unique opportunity to care for these patients before birth, through infancy, childhood and into adulthood. In our clinics, pediatric patients with rare diseases are "transferred" to adult clinics when they reach adulthood. In some centers, we have several generations of families with a rare disease under our care. And we provide care for the children of these families as well as for adult patients – it is something completely unique. Another thing is the possibility of multidisciplinary care. Rare diseases occasionally affect only one system. For example, people with cardiac disorders often also have neurological and orthopedic problems. They therefore require care from different medical disciplines. We are talking about certain aspects of clinical care. But let's not forget that, as a university, we also have a powerful capability and a large body of scientific work on genetic research related to rare diseases.

Will patients be able to check into the Center?

P. P.: You will be able to check into the centers that are part of the center. Remember that the MUW Center of Excellence for Rare Diseases is not a medical entity. As a medical university, we teach and deal with science and will place special emphasis in pre- and post-graduate teaching on various medical and social aspects related to rare diseases. Treatment, on the other hand, is provided by hospitals. There are no treatment facilities within the university as such. Coordination and collaboration with teaching hospitals is needed. So the center cannot treat, but it can facilitate access to appropriate treatment units.  

Interviewed by: Iwona Kołakowska,
Photo: Michał Teperek,
Communication and Promotion Office MUW