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Empowering patients with rare diseases
For many decades, people suffering from rare diseases were “invisible.” Until recently, the prevailing perception was that rare diseases affected isolated, “rare” cases of patients and their families. The same lack of “visibility” was observed in the countries’ national health systems, where, precisely because rare diseases affected a small number of patients, the treatments, if any, were costly and economically “unprofitable” for the public health systems.
The truth, however, is very different. We all need to understand that rare diseases are not as rare as we believed until today. Based on official data, it is estimated that in [country]*, approximately 350,000 to 600,000 fellow citizens are suffering, a percentage that represents 3.5–5.9% of the country’s population, while in Europe, more than 30 million people have been affected by a rare disease. It is estimated that globally, about 300–400 million people suffer from a rare disease, while 50% of patients with rare diseases are children, and 30% of them do not manage to survive beyond the fifth year of their lives. If one also considers the families of the patients with rare diseases, it becomes clear that the percentage of people who are ultimately, directly or indirectly, affected by rare diseases far exceeds the numbers mentioned above.
Rare is considered a disease that affects 5 in 10,000 people in the community, with its main characteristics being a low frequency of occurrence and high heterogeneity, while in many cases, its causes are genetic. To date, it is estimated that there are around 6,000 to 8,000 different diseases, many of which are complex, chronic, and degenerative, causing severe disabilities in patients. In many cases, they are also life-threatening. In addition, to a vast extent, rare diseases remain undiagnosed or misdiagnosed for years, leading patients to a “diagnostic Odyssey,” which entails an enormous hardship and emotional, psychological, and financial burden for themselves and their families.
However, despite being of paramount importance, diagnosis is only one parameter in the holistic approach to patients with rare diseases. It is also vital for patients with rare diseases to have immediate access to prevention, as well as accurate and timely diagnosis and holistic care. If one considers that 70% of rare diseases are genetic, the importance and value of prevention in accurately diagnosing these patients is easily understood, ensuring better care and the reduction of new cases. In this context, it is considered necessary to have a plan for holistic care of patients with rare diseases, given that the majority of them are complex cases that require the assistance of many medical specialties for proper patient care.
In addition, the care of patients with a rare disease entails a substantial financial burden for them, their families, and the health system itself. However, in addition to the increased cost of necessary medical care, patients with rare diseases, as well as caregivers and family members, often require psychological support from specialized psychologists. In some cases, they also need professional caregivers or nurses to cope with the needs of everyday life. All these parameters further burden the family budget and make it necessary to create a comprehensive and inclusive health plan for patients with rare diseases.
In the above landscape, the role of national health systems is crucial. First of all, the design of prevention programs for the general population should emphasize prenatal and newborn screening for genetic diseases. Also, patients with rare diseases must have access to innovative treatments and be able to participate in clinical trials with innovative therapies. Additionally, there is a need for specialized training of doctors, nurses, and caregivers and a strengthening of primary care to effectively help patients with rare diseases. It is certain that involving patient associations with rare diseases in decision-making committees would significantly help in understanding the challenges faced by this specific group of our fellow citizens. This involvement would decisively contribute to the adoption of appropriate measures and policies for better care and support of patients with rare diseases and their families.
The nationwide information and awareness campaign for rare diseases is an initiative of [Organization 1], [Organization 2], and [Organization 3] with the kind support of [company].
