Today marks World Rare Disease Day, aiming to raise public awareness about these pathologies and the importance of investing in research to provide new treatments. These diseases, which affect a small number of people in the general population, can be hereditary, progressive, and affect various organs of the body.
Diagnosing these diseases is often complex and prolonged, leading to misdiagnoses in more than 40% of cases. Additionally, the lack of specific treatments for many of these pathologies highlights the need for increased investment in research and innovation.
Patients with rare diseases often face challenges accessing information, specialists, and appropriate treatments, especially in regions with fewer healthcare resources. Scientific organizations are investing in the development of new treatments to improve the quality and life expectancy of patients.
Rare Diseases can present at any age, although 75% of cases manifest in childhood. One of the biggest challenges patients face is the delay in diagnosis. Some of these diseases can be fatal and cause disabilities, significantly impacting the lives of families.
Familial Amyloid Polyneuropathy is one of the rare diseases that presents with neurological symptoms followed by cardiological symptoms, although sometimes the etiology is still unknown. The late diagnosis of this condition, characterized by pain and tingling in hands and feet, can be a challenge due to the nonspecificity of its symptoms.
On this World Rare Disease Day, the goal is to raise awareness about the importance of ensuring access to appropriate treatments to improve the quality of life for patients and promote health policies that address the needs of this group of rare diseases.
