Around 7,000 rare diseases have been identified worldwide, affecting approximately 400 million people, the majority of whom are children.
The European Organisation for Rare Diseases (EURORDIS) has designated the last day of February as "Rare Disease Day" to raise awareness. Since 2008, Rare Disease Day has been observed on February 28 this year.
According to the National Institutes of Health (NIH) in the United States, about 7,000 rare diseases have been identified globally, and around 400 million people are affected by these conditions.
It is known that around 80% of rare diseases are hereditary, while 20% are caused by infections, allergies, and environmental factors.
According to EURORDIS, about 5% of the global population is affected by rare diseases, and 75% of those affected are children.
The definition of rare diseases can vary from country to country. The differing symptoms seen in individuals with the same disease and the lack of sufficient research on rare diseases make their definition difficult. For this reason, the definition of rare diseases can differ from country to country.
In the U.S., diseases affecting fewer than 200,000 people are classified as "rare," while the European Union (EU) defines diseases as rare if they affect fewer than 5 out of every 10,000 people.
Across Europe, more than 36 million people are fighting rare diseases, while in the U.S., the number is about 30 million.
According to the World Health Organization (WHO), diseases affecting approximately 65 out of every 100,000 people fall under the "rare" category, and in the UK, 1 in 2,000 people are affected by such diseases.
Diagnosing rare diseases can take over 5 years. Diagnosis of rare diseases, where different symptoms are observed from patient to patient and medical expertise and patient care services are often inadequate, can take more than 5 years. In cases where factors like gender and age complicate diagnosis, this period can extend to over 10 years.
According to the EU, even if the disease is diagnosed, around 95% of people may not have access to appropriate treatment.
"Stone Man Syndrome" "Fibrodysplasia Ossificans Progressiva" (FOP), also known as "Stone Man Syndrome," is one of the leading rare diseases. FOP causes muscle and connective tissues to turn into bone over time, resulting in the growth of bone outside the skeletal structure.
This condition, which affects ligaments, tendons, and skeletal muscles (except for the heart, tongue, diaphragm, eye muscles, and some smooth muscles), restricts mechanical movement as it affects joint areas. People with this disease may lose the ability to eat and speak due to difficulty in jaw functions.
The condition can also make it difficult for individuals to breathe because of bones formed around the chest.
"Lesch-Nyhan Syndrome" "Lesch-Nyhan Syndrome" (LNS) is another rare genetic disease that is transmitted through the X chromosome, primarily affecting male children. This condition, caused by abnormally high levels of uric acid in the body, leads children to bite their lips and fingers, causing self-harm behavior starting at around two years of age.
This behavior can also involve actions like hitting the head or limbs, or inserting fingers or objects into the eyes.
The excess uric acid produced by the disease can accumulate in joints, kidneys, and the central nervous system, leading to swelling and kidney problems.
The disease was first identified in 1964 in two brothers, Lesch and Nyhan, and is named after them.
"Progeria Syndrome" "Progeria Syndrome," also known as "Hutchinson-Gilford Progeria Syndrome" (HGPS), is a fatal rare disease that causes premature aging in children. This genetic disorder causes symptoms like baldness, wrinkles, and skin aging, leading to death, usually from heart attacks or strokes.
Seen in about 1 in 4 million people, those with this disease generally survive into their twenties. While there is no known cure, existing treatments can only slow the progression of the disease.
First described in the medical literature in 1886, this condition has been recorded about 130 times to date.
"Werewolf Syndrome" "Werewolf Syndrome," also known as "Hypertrichosis," causes excessive hair growth on the entire body, including the hands, or on specific areas. The abnormal amount of hair can cover the entire face and body or can accumulate in patches on different areas.
Although the exact cause of the disease is not known, some studies suggest it could be caused by genetic factors.
There is no widely accepted treatment for the disease, but cosmetic procedures like laser hair removal are used to reduce its psychological effects on the individual.
