Rare Disease Day 2025: History, Significance, Key Facts And 5 Rarest Diseases – News18

Last Updated:February 28, 2025, 07:10 IST

Rare Disease Day 2025: The ICMR has created ‘National Registry for Rare Diseases’ to help track and manage cases effectively.

Rare Disease Day 2025: The world comes together on the last day of February to shine a light on a group often overlooked, the millions battling rare diseases. Rare Disease Day is more than just an awareness campaign. It’s a global movement advocating for better research, medical support and policies to improve the lives of those affected by uncommon medical conditions.

Rare diseases may not affect large portions of the population, but their impact on individuals and families is profound. With greater awareness, advocacy and medical research, we can move toward a world where rare diseases are better understood, diagnosed and treated.

This Rare Disease Day, we learn, support and stand with those living with these conditions. Let’s explore the origins of this important day, why it matters and some fascinating facts about rare diseases.

Rare Disease Day 2025: History

Rare Disease Day was first established in 2008 by the European Organisation for Rare Diseases (EURORDIS). The chosen date—February 29, was no coincidence. Since this day appears only in leap years, it symbolically reflects the rarity of the conditions being highlighted.

The inaugural event took place across multiple European nations and Canada, with the Canadian Organization for Rare Disorders (CORD) playing a key role. The same year also marked the 25th anniversary of the Orphan Drug Act in the United States, a law that incentivized pharmaceutical companies to develop treatments for rare diseases.

Rare Disease Day 2025: Significance

Rare Disease Day plays a crucial role in advocating for individuals living with rare but often life-altering conditions. Awareness leads to action and action leads to change. In India, the Indian Council for Medical Research (ICMR) has created a ‘National Registry for Rare Diseases’ to help track and manage cases more effectively. In 2021, the Ministry of Health and Family Welfare took a significant step by approving the National Policy for Rare Diseases, aiming to improve diagnosis, treatment and management of these conditions.

Rare Disease Day 2025: Key Facts

1. Over 6,000 rare diseases exist, each with unique symptoms that can vary significantly even among patients with the same condition.
2. Approximately 72% of rare diseases are genetic and nearly 20% of all cancers fall into the rare disease category.
3. The National Institutes of Health (NIH) estimates that around 7,000 rare diseases affect between 25 to 30 million Americans—roughly 1 in 10 people.
4. Despite the high numbers, about 95% of rare diseases still have no approved treatment.
5. Many patients with rare diseases rely on ‘off-label’ treatments—medications not specifically approved for their condition—often leading to difficulties with insurance coverage.

Rare Diseases Day 2025: 5 Rarest Diseases

• Addison’s Disease: Addison’s Disease or hypercortisolism, occurs when the adrenal glands fail to produce enough cortisol and aldosterone. It affects all ages and genders, causing extreme fatigue, weight loss, appetite loss and skin darkening on the knuckles, elbows, lips and toes. Other symptoms include muscle weakness, joint pain, low blood pressure, hypoglycemia, salt cravings and mood disturbances like depression and irritability.
• Usher Syndrome: It is the leading genetic cause of combined deafness and blindness, with hearing loss present from birth or early childhood and progressive vision impairment due to retinitis pigmentosa (RP). The condition has three main types, each varying in severity and nine genetic subtypes identifiable only through DNA testing. Many individuals also suffer from balance issues due to vestibular dysfunction.
• Prader-Willi Syndrome (PWS): PWS is a genetic disorder affecting metabolism, growth and behaviour. Those with PWS experience an insatiable appetite, leading to obesity-related conditions like diabetes and heart disease. Low muscle mass and inactivity increase osteoporosis risk, while hormonal imbalances often cause infertility. The disorder stems from the loss or malfunction of paternal genes on chromosome 15, disrupting hypothalamus functions that regulate hunger, growth and sleep.
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): It is a progressive disorder affecting the digestive and nervous systems. Symptoms include severe weight and muscle loss, eyelid drooping, limb tingling and digestive issues like abdominal pain and blockages. Often misdiagnosed, MNGIE results from TYMP gene mutations, leading to a toxic buildup of substances in the body.
• Gaucher Disease: A metabolic disorder caused by glucocerebrosidase enzyme deficiency, leading to fatty buildup in the liver, spleen and bone marrow. Symptoms include bone pain, fractures, osteoporosis, anaemia-induced fatigue, easy bruising and nosebleeds due to low platelet levels. The most common form, Type 1, affects multiple organs and can develop at any stage of life.