"Many are lost in the maze and are not properly diagnosed"

2 March 2020

Rare diseases are diseases that affect few people in relation to the average population and their rare occurrence raises special issues. In Europe and the United States, a disease is considered rare if it affects only one in more than 2,000 people. Thousands of rare diseases exist. So far, six to seven thousand rare diseases have been discovered and new types are regularly described in the medical literature. On the occasion of Rare Disease Day, we discussed the topic with dr. Kinga Hadzsiev, associate professor and head of the Clinical Center Department of Medical Genetics.


Written by Rita Schweier


- Do I know the statistics correctly that currently there are 6-800 thousand people in the world suffering from some rare disease?

- Yes, there are about as many as 6-800 thousand, although it is difficult to provide accurate data because many people do not have a diagnosis. It is certain that their number is growing. These patients are worth grouping together because they have the same difficulties. This can apply to the social, educational, as well as health care sectors because many are lost in the maze, walking from one doctor to another, and often receive therapies that are unnecessary and in many cases even harmful, and yet they are not diagnosed properly. In addition, it is worth considering them as a group because the proportion of the types of diseases for which classical healing therapy exists is only under ten percent.

- There are thousands of such patients in Hungary as well.

- There are 60-80 thousand people who are diagnosed but this number is significantly higher in the case of those who have some kind of a rare disease. Fortunately, there is more and more talk about this type of disease in Hungary as well and the clinical centers of the universities have also developed expert bases focusing on these diseases.

- Progress should also be made in coding rare diseases because only 250 diseases have a professional code.

- Indeed, and this is a daily administrative problem in patient care. We have to use some tricks to be able to issue a raised family allowance or a parking card and this has been a serious struggle for years.

- However, the European Union and the WHO find the case of rare patients important.

- The Union has recommended to all member states to draw up a "Rare Disease National Plan" concerning the diagnosis of such diseases, the care of patients, the operation of centres of expertise, the patient pathways, the social and educational situation. A national plan has also been drawn up in Hungary, its revision is underway and its new release is expected this year. It is important that it is not only going to be a document but that real decisions will be made based on it, which will improve the care of these patients and make their lives easier.

- Are there more children suffering from rare diseases than adults today?

- Yes, 80 percent of rare diseases are genetic and a significant proportion of them affect children. Unfortunately, many of them die before the age of five, so it is important that the diagnosis is as broad as possible.

- Molecular genetic researches are essential for the accurate diagnosis.

- Unfortunately, there are more diseases today about which we do not know what kind of genetic differences are behind them. The difficulty is that the clinical image seen in certain diseases, the laboratory results and the imaging results may be different, i.e. the disease is phenotypically very variable. There can be many different symptoms - from mild to very severe - with the same defective gene, therefore research and the exact molecular background are very important to see which gene has the defect and how it causes the disease. It is also important to describe the symptoms as accurately as possible, as it may help in the early diagnosis. We have seen in many cases that in the study of rare diseases, we have also become aware of the pathomechanism of other common diseases, it is important to study rare diseases for this reason as well.

- Can research keep pace with the growing number of diseases?

- The European Union is devoting significant resources to research on rare diseases but the more we know, the more we realize how much we do not know yet. However, with the appropriate support we can achieve even better results.

- Is this support appropriate?

- It is difficult to answer this question because of the need for support in a wide range of fields. Professor György Kosztolányi, who was at the forefront of this field, says that a good rare patient care system is a great indicator of a country's health care system.

- It is also important for general practitioners to be informed because they are the primary filters in this process.

- The primary purpose of the Károly Méhes Genetic Training Days, launched by Professor Béla Melegh and held every year since then, is informing GPs, we always try to thoroughly discuss one rare disease group. We are fortunate in Pécs and in the surrounding area - which praises the work of my ancestors - because our primary care colleagues are well informed and our department is also well known. However, this does not work consistently and satisfactorily nationally, despite the fact that the clinical centres of the four universities function as rare patient care centres of expertise. That is why many people from all over the country come to us today, as shown by our statistics: the proportion of our patients from outside the region is 60 percent. The genetic departments are fortunate enough to have no territorial supply obligations because we do not belong to the classical medical professions.

- Can you handle this many patients?

- Yes because due to the Clinical Center’s leadership, the number of our doctors is relatively good. We have five clinical geneticists and six enthusiastic residents who help our work. There are three people involved in everyday patient care. In the background, Professor György Kosztolányi and Professor Béla Melegh are also present, providing support in scientific and professional questions.

- How big is your daily patient flow?

- We are working with appointments; unfortunately, we have a long waiting list, about three months until we can admit a patient. In parallel, we have two genetic specialist practices where we provide care for six to eight patients a day, which is considered a large number in this type of care. Much more people show up for general practices but rare patients require other types of care.

- How is your cooperation with the expert teams of the other universities?

- Very good, also because it is a small team, we know each other personally; we know whom a patient can be sent to. We have a daily professional cooperation and we work together in scientific fields as well.

- What is the specialty of the department in Pécs?

- We are good at treating rare diseases occurring in childhood but it is important to emphasize that the Clinical Center is the rare patient care center, we only coordinate the work. This means that in Pécs, there is a high level of expertise available in all clinics who are familiar with rare diseases.

- Do you need help from abroad?

- Yes. Some years ago, the European Union has set up European Reference Networks for rare patients, which include subgroups according to the types of rare diseases. The clinical centers of the universities work together in several networks. We get help in diagnosing unresolved cases, in further trainings, and we can refer a patient's medical history or symptoms, which also means a lot.

- What kind of research is currently being conducted at the department?

- Studies are ongoing on genomic disorders where the presence or absence of a major genetic component causes the symptom. In addition, we are trying to uncover the genetic differences behind rare epilepsy in a broader range. Together with the University of Szeged, we are also involved in a rare disease research competition, which helps us discover the diseases with the most advanced diagnostic testing methods.

- Is there a type of rare disease, which was first diagnosed here?

- There are more. One of the diseases for which we are a national center and examine many patients is Rett syndrome, a highly complex congenital malformation of the central nervous system in girls. We also diagnose other rare diseases nationwide, such as neurofibromatosis, sclerosis tuberosa, or the genomic abnormalities mentioned above.