Every year on the last day of February, the world comes together to observe Rare Disease Day. This global campaign is dedicated to raising awareness about rare diseases and the challenges faced by patients and their families. This year, as we mark Rare Disease Day 2024 on February 29, let us shine a light on 10 rare diseases by the Organization of Rare Diseases of India (ORDI) that affect individuals in India.
- Acanthocytosis Chorea: A neurological condition that impairs movement throughout the body.
- Achalasia Cardia: A rare disorder of the oesophagus, Achalasia Cardia causes difficulty in swallowing food and liquids. It occurs due to abnormal functioning of the lower oesophagal sphincter, which is responsible for controlling the movement of food into the stomach.
- Acromesomelic Dysplasia: Small-limb dwarfism is an inherited skeletal condition characterised by small stature.
- Acute Inflammatory Demyelinating Polyneuropathy (AIDP): A broad category of diseases that impact the nervous system.
- Acute Lymphoblastic Leukaemia: Blood cancer, particularly in the case of white blood cell malignancy.
- Adisons Disease: Certain cortisol and aldosterone hormones are not produced in sufficient amounts by the adrenal glands in the body.
- Adrenoleukodystrophy(ALD): A hereditary disorder that damages the brain's and spinal cord's myelin sheath, or membrane, which protects nerve cells.
- Acute inflammatory demyelinating polyneuropathy: A peripheral nerve system autoimmune illness that was identified more than a century ago.
- Alagille syndrome: A genetic disorder where the liver accumulates bile.
- Alkaptonuria: An inherited disorder that causes poor protein digestion and homogentisic acid accumulation.
These are just 10 of the many rare diseases that affect individuals in India. Unfortunately, due to their rarity, many of these conditions often go undiagnosed or misdiagnosed for years, causing significant physical and emotional distress to patients and their families. Additionally, the high cost of treatment and lack of access to specialised care further exacerbate the challenges faced by those living with rare diseases in India.
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