Buenos Aires, February 23 (NA) -- Although there are more than 7,000 rare diseases, they are not included in the Mandatory Medical Program or in pharmacopeias. This forces millions of patients to wander through laboratories and sophisticated imaging equipment in search of a diagnosis. The low individual prevalence of each disease usually leads to a lack of information, late diagnoses, and barriers to accessing treatments and specialists, the Argentine News Agency found. One of the main challenges associated with rare diseases is the so-called diagnostic odyssey. Many people consult different professionals for years before receiving an accurate diagnosis. Lack of information, low clinical suspicion, and scarcity of specialized centers directly impact patients' quality of life and prognosis. While not all rare diseases have curative treatments, in many cases, there are therapies that can improve quality of life, alleviate symptoms, or slow progression. Early access to medical care, interdisciplinary teams, and health policies that consider these conditions is key to reducing inequalities. However, these diseases do not seem so rare, as they even have a World Day every February 28. Millions affected. Speaking of rare diseases is recognizing a reality that affects millions of people and requires specific responses. Clear information, research, strengthening of health systems, and social awareness are fundamental to moving towards more equitable and person-centered care. In what appears to be an inextricable health sector, medical science has not yet managed to decipher what are called autoimmune diseases, which occur when the immune system mistakenly attacks and destroys healthy body tissue. There are more than 80 different types that can affect joints, skin, organs, and blood, causing inflammation and symptoms such as fatigue and pain. The blood cells of the immune system help protect the body from harmful substances. Examples include: bacteria, viruses, toxins, cancer cells, as well as blood or tissues from outside the body. These substances contain antigens. The immune system produces antibodies against these antigens, allowing it to destroy these harmful substances. Low prevalence. Despite their low individual prevalence, these rare diseases have a significant impact not only on physical health but also on the social, emotional, and economic life of those who suffer from them and their families. In many cases, lack of information and recognition contributes to the invisibility of these conditions and delays access to adequate care. "Most rare diseases have a genetic origin, although they can also be metabolic, neurological, autoimmune, infectious, or degenerative. Many manifest in childhood, but others appear in adolescence or adulthood, which complicates their detection and delays the start of an adequate approach," affirms Leandro Crístomo, specialist in family medicine at CMC San Juan de Boreal Salud. "In rare diseases, the time to diagnosis is a critical factor," they explain. "Detecting them early allows for starting treatments, avoiding complications, and significantly improving patients' prognosis and quality of life."
Among some of the best-known rare diseases are:
Cystic fibrosis: mainly affects the respiratory and digestive systems, with the production of thick secretions that make breathing and nutrient absorption difficult. Fabry disease: a hereditary metabolic disorder that can affect the kidneys, heart, nervous system, and skin. Rett syndrome: a neurological disorder that mainly affects girls and causes a regression in motor and language development. Gaucher disease: a genetic pathology that affects the liver, spleen, bones, and bone marrow. Amyotrophic lateral sclerosis (ALS): a neurodegenerative disease that affects motor neurons and causes progressive muscle weakness. Prader-Willi syndrome: a genetic disorder that affects growth, metabolism, and behavior, associated with hyperphagia. Angelman syndrome: a genetic disease characterized by intellectual disability, motor and speech alterations. Huntington's disease: a hereditary neurodegenerative disorder that causes motor, cognitive, and psychiatric alterations. Marfan syndrome: a genetic disease of connective tissue that affects the heart, eyes, and musculoskeletal system. Amyloidosis: a group of diseases characterized by the abnormal deposition of proteins in different organs.
