Rare Disease Day takes place worldwide, on or near the last day of February each year. The focus is to raise awareness among officials and the public about rare diseases and their impact on patients’ lives. Each year, NCATS (National Center for Advancing Translational Sciences) and the NIH (National Institute of Health) Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH intends to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.
What is a rare disease?
• Different countries have varied definitions of what makes a disease rare
• In the United States, a rare disease is a condition that affects fewer than 200,000
• In Europe, they are diseases diagnosed in 1 in 2,000 people
• To date, there are around 7,000 rare diseases, and more are getting discovered every year. A recent study indicates that over 300 million people globally are living with a rare disease. That is around 4% of an estimated world population of 7.5 billion
• Rare diseases can have many causes. The majority (72%) are found to be genetic, caused by family history, congenital disabilities, or changes in chromosomes. Of those, 70% start during childhood.
Because of limited information, it is common for rare diseases to be misdiagnosed in its early stages. The characteristics of a rare illness include the following:
• They are often chronic, progressive, degenerative, and life-threatening
• They have a high level of pain and suffering for patients and their family
• They are disabling while compromising a patient’s quality of life due to the lack or loss of autonomy
Listed are Various Rare Diseases:
1. Multiple sclerosis - Multiple sclerosis (MS) is an autoimmune disease of the brain and spinal cord, affecting the central nervous system. It is characterized by numbness or weakness in one or more limbs that occur on either side of the body at a time. Patients usually suffer from tremors or electric shock sensations. In the long run, it can cause permanent nerve damage or deterioration
2. Narcolepsy - Narcolepsy is a sleep disorder that impairs the patient’s ability to stay awake during the day. It is characterized by involuntary and excessive sleepiness, sleep paralysis, hallucinations, disrupted sleep, and partial (or total) loss of muscle control
3. Primary biliary cholangitis - Primary biliary cholangitis is an autoimmune disease of the liver. In this chronic condition, the bile ducts are slowly destroyed. Bile aids with digestion and helps the body regulate cholesterol levels and filter toxins in the body. When it gets damaged, irreversible scarring of liver tissues, or cirrhosis, can occur
4. Fabry disease - Fabry disease is a hereditary genetic disorder. With this disease, the body cannot produce an enzyme called alpha-galactosidase A (⍺-GALA), which breaks down fatty acids in the body. This causes a build-up in the blood vessels, affecting the skin, brain, heart, kidneys, and nervous system
5. Cystic fibrosis - Cystic fibrosis (CF) is a hereditary disorder that affects the lungs and digestive system. It causes the body to produce sticky mucus which clogs the lungs and can present respiratory and breathing problems. The disease requires daily care, and patients have a shorter life span, usually up to their 30s or 40s
The Battle Against Diseases Continue:
Even if support for rare diseases is not as available, doctors and researchers are continually finding new methods in managing symptoms of those with rare diseases.
Source of Information: Various Google Searches
Until Next Week, Stay Safe and Well!