Special Medical Conditions: More People Suffer from Them Than We Assume

The information and knowledge related to rare diseases are receiving increasing attention, as these conditions, although rare as individual cases, collectively affect many people’s lives. Rare Disease Day, which falls on the last day of February, provides an opportunity to raise awareness about these special conditions, which come with numerous challenges in diagnosis and treatment. Rare diseases often remain hidden, causing significant difficulties for patients and their families.

These diseases have significant effects not only from a medical perspective but also socially and emotionally. Recognition and access to appropriate medical care can be crucial for the quality of life of patients. Eligibility for and diagnosis of rare diseases is not always a straightforward task, and in many cases, parents and family members are involved in the process.

The struggle with rare diseases affects many, and alongside raising social awareness, it is essential to provide proper support and information services for patients and their families.

The concept and prevalence of rare diseases

Rare diseases are health conditions that affect a small percentage of the population. According to statistics from the European Union, these diseases affect at most one in 2000 people, meaning that the incidence rate does not exceed 1:2000. In Hungary, based on this, rare diseases include those conditions that affect one in 2000-5000 people. Currently, approximately 6,000 to 8,000 rare diseases are known, and this number is continuously expanding as science identifies new conditions and disorders.

Recognizing rare diseases is particularly challenging, as most doctors rarely encounter these conditions. Diagnosis often takes years, as symptoms can vary and often present a complex picture. Specialists who focus on rare diseases are often necessary to properly diagnose and treat patients. The number of patients in Hungary is estimated to be around 700,000, and this number continues to grow as more diseases are identified.

A significant portion of rare diseases has a genetic origin and is inherited from parents, while others arise from congenital abnormalities. Scientific research is continuously expanding our knowledge of these conditions and searching for effective treatment options.

Genetic rare diseases

The vast majority of rare diseases are of genetic origin, meaning they are caused by inherited genetic disorders. These diseases can generally be diagnosed at birth, and parents have the opportunity to assess risks before conception. Genetic tests, such as Origin carrier screening, can help parents understand which disorders may be inherited, and they also allow for the examination of the fetus’s condition.

“De novo” genetic disorders, which are the result of newly occurring mutations at conception, also play an important role in the group of rare diseases. These disorders can be examined through maternal blood tests during the development of the fetus, typically after the 9th to 10th week of pregnancy. Examples of such diseases include Edwards syndrome and Patau syndrome, which unfortunately often have severe consequences and significantly affect the lives of children.

Other genetic disorders, such as microdeletion syndromes, can also seriously impact the quality of life of patients, as they may cause severe developmental disabilities and heart problems. Modern diagnostic methods, such as prenatal genetic testing, aid in early detection, allowing for necessary medical interventions.

Non-genetic causes of rare diseases

Although most rare diseases are of genetic origin, in many cases, other factors may contribute to their development. Environmental influences, such as bacterial or viral infections, as well as various chemicals and radiation, can also trigger these diseases. In most cases, however, the exact causes are unknown, which further complicates diagnosis and treatment.

Childhood cancers, such as leukemia, or certain types of adult cancers, such as melanoma, are also considered rare. Research continues, and new medications are being developed for the treatment of rare diseases. Early diagnosis and access to appropriate treatment are particularly important, as in many cases, delays can lead to worsening due to the progressive nature of the disease.

For patients and their family members, rare diseases present not only medical but also psychological challenges, as these conditions often come with severe physical or mental disabilities. Providing appropriate support and informational background is crucial for families to successfully cope with these challenges.

The situation of patients and their support

The situation of patients suffering from rare diseases is extremely difficult, as in many cases, these conditions cause significant deterioration in quality of life. Intellectual and physical disabilities affect not only the patients but also their family members. Diagnosis often occurs at birth, which entails lifelong care and continuous emotional burden for the family.

Many affected individuals can live independently, but there are also those who require intensive physical assistance, special equipment, and medical care. Alongside appropriate medical care and social services, the role of the family is crucial in supporting patients. Healthcare workers are often unprepared to treat rare diseases, complicating the proper care of patients.

Access to medications can also be a problem, as in many cases, treatment options are limited, and the appropriate medications are not available. Since there is often no definitively effective cure for most rare diseases, treatment typically focuses on alleviating symptoms. For the affected families, this ongoing struggle represents not only a physical burden but also a mental one, as they must cope with hopelessness and the lack of peers.

The National Association of People Living with Rare and Congenital Disorders (RIROSZ) has established the Lifeline Information Center, which provides support for patients, professionals, and decision-makers. The center can be reached at the phone number 061/790-4533 or via email at the provided address. The goal of the information center is to assist individuals living with rare diseases and their families in finding appropriate care and support.