Wandering from doctor to doctor does not yield results and symptoms are sometimes mistaken for other conditions or allergies. In Poland up to 3 million people may suffer from rare diseases [1]. They are very difficult to diagnose and treat and, as a result, patients do not know the cause of their complaints for many years. The problem is not only diagnosis, but also the lack of a register of diseases, too few specialised centres and insufficient education of patients and doctors.
Rare diseases, otherwise known as orphan diseases, can affect anyone - in Poland they affect 6-8 per cent of the population [2]. Patients include people of all ages, both men and women, and very often children. They cover virtually all medical areas, including neurological, immunological and metabolic diseases, as well as rare cancers [3].
Poles do not know enough about orphan diseases
Currently, there are almost 8 000 rare diseases classified, with 95 per cent remaining untreated with a registered therapy [4]. Due to the rarity of these conditions, many doctors have never been exposed to them, and unfortunately, it is the experience of medics that makes all the difference in diagnosis. Therefore, the more people with these conditions come to the surgeries, the more knowledgeable the professionals will be on the subject. Patients should also be aware of the existence of these diseases and be aware that they are, against all appearances, common. They affect 30 million people throughout the European Union. - There is insufficient knowledge on the subject of orphan diseases, so patients go through what is called a diagnostic odyssey before they know the cause of their complaints. This means that they do a lot of tests and consult symptoms in many doctors' offices, and it takes months and years. Hardly surprising - making a diagnosis for rare diseases is extremely difficult, as the symptoms are confusing. The spots on the body that occur with Fabry disease can be taken for a harmless rash or allergy, and bone pains are mistaken for growth pains in children and teenagers. Hereditary angioedema, on the other hand, which manifests itself by, among other things, swelling of the skin or mucous membranes, is often mistaken for an allergy. says Prof. Grzegorz Basak, M.D., vice-president of the Saventic Foundation, whose main goal is to support faster diagnosis of rare diseases.According to the 2021 survey "State of Poles' knowledge of rare diseases", Poles' knowledge of these conditions is poor [5]. More than half of the respondents had heard of them, but more than 70 per cent could not correctly name any of them. 40 per cent of respondents did not know that rare diseases are inherited, despite the fact that most such conditions have a genetic basis. On the other hand, 12 per cent of respondents, i.e. one in eight Poles, said that a friend or family member suffers from a rare disease. It is worth noting that only less than one per cent of respondents believe that there is sufficient access to modern treatment for rare diseases in Poland.
Patient with a rare disease in Poland
Treatment of rare diseases is extremely expensive and for many conditions there is not yet a cure. It is possible to alleviate symptoms by using individually tailored rehabilitation and incorporating symptomatic treatment [6]. However, before treatment can begin, the disease must be diagnosed, and this often takes many years. - Early detection works to the patient's advantage, which is why atypical symptoms should not be underestimated, and we should be particularly attentive to them in children, as symptoms are often already apparent at a very young age. It is worth seeking help not only from your general practitioner, but also from specialist centres - It is worth knowing that since 2021, Poland has had a Plan for Rare Diseases for the years 2021-2023. It assumes the introduction of highly specialised genetic tests for diagnosing and monitoring the treatment of patients with specific rare diseases, the establishment of expert centres or the creation of a register of rare diseases, which has not been functioning in Poland so far. The plan is to improve the situation of patients and raise the standards of diagnosis and treatment to European standards. Although changes are slow, the situation of patients with rare diseases in Poland is improving.
1: https://www.gov.pl/web/zdrowie/choroby-rzadkie2: https://www.wum.edu.pl/node/169553: https://www.rynekzdrowia.pl/choroby-rzadkie/Na-95-proc-chorob-rzadkich-nie-ma-zarejestrowanych-lekow,229412,1024.html 4: https://www.rynekzdrowia.pl/choroby-rzadkie/Na-95-proc-chorob-rzadkich-nie-ma-zarejestrowanych-lekow,229412,1024.html5: The survey was conducted by the SW Research agency on 14-15.12.21 using the CAWI technique on the research panel SW PANEL, on a representative sample of n=1029 adult Poles 6: https://www.zwrotnikraka.pl/choroby-rzadkie-w-polsce-lista-definicja/
Saventic Foundation was created for patients who remain undiagnosed for months or years and are looking for the right specialist or medical centre. The organisation's main task is to support faster diagnosis of rare diseases. To this end, the Foundation has created and provides, free of charge, an application through which the patient can securely submit a questionnaire and medical data. The documents received are analysed by both innovative artificial intelligence algorithms and a medical consortium specialised in rare diseases. If a risk of a rare disease is identified, the patient is informed about the centre or doctor to which he or she should go. The Foundation performs, free of charge, dry blood drop tests (DBS) for Gaucher disease, Fabry disease and mucopolysaccharidosis for patients at high risk of a rare disease. Thanks to the use of advanced technology and the involvement of experts, each case is treated individually and diagnosis time can be significantly reduced. More information: www.fundacjasaventic.pl.