The world of rare diseases in India

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The World of Rare Diseases: Understanding the Uncommon – An Indian Perspective

When we hear the word "disease," our minds often jump to well-known conditions like cancer, heart disease, or diabetes. Yet, there exists a vast landscape of illnesses classified as "rare." While individually uncommon, collectively they affect millions in India alone. Let‘s dive into this often-overlooked corner of healthcare, recognizing that rare diseases can touch even the most familiar faces.

What Makes a Disease Rare?

The definition of "rare" varies by country. In India, a disease is considered rare if it affects fewer than 1 in 2,500 people. This translates to an estimated 60 million Indians living with a rare disease – a population larger than many countries!

The Challenge of Rare Diseases in India

• Limited Data: Accurate prevalence data is scarce in India, making it difficult to gauge the true impact of rare diseases.
• Diagnosis Hurdles: Lack of awareness among healthcare professionals and limited diagnostic facilities lead to delayed or missed diagnoses.
• Financial Burden: Treatment for rare diseases can be exorbitantly expensive, pushing families into poverty.
• Social Stigma: Many rare diseases are accompanied by social stigma, leading to isolation and discrimination.

Indian Celebrities with Rare Conditions

The following Indian celebrities have openly shared their experiences with rare diseases, helping to raise awareness and break down stigma:

• Amitabh Bachchan: The legendary actor was diagnosed with Myasthenia Gravis, a neuromuscular disorder.
• Hrithik Roshan: This popular Bollywood star revealed his struggle with ankylosing spondylitis, a chronic inflammatory disease affecting the spine.
• Sunil Shetty: The actor and producer has spoken about his son‘s battle with dyslexia, a learning disorder.
• Samantha Ruth Prabhu: The actress had a recent diagnosis of Myositis 
• Sonam kapoor had juvenile diabetes
• Irrfan Khan: The actor died due to Neuroendocrine Cancer

40 Rare Diseases Prevalent in India

Here‘s a list of 40 rare diseases prevalent in India with brief explanations:

Blood Disorders

1. Thalassemia: An inherited blood disorder reducing the production of hemoglobin, leading to anemia.
2. Hemophilia: A genetic disorder impairing the body‘s ability to clot blood, causing excessive bleeding.
3. Sickle Cell Anemia: An inherited blood disorder causing red blood cells to become misshapen and break down.

Metabolic Disorders

4. Lysosomal Storage Disorders (LSDs): A group of inherited metabolic diseases affecting lysosomes, causing the buildup of toxic substances in cells.
5. Homocystinuria: An inherited disorder causing high levels of homocysteine, an amino acid, in the blood and urine.
6. Maple Syrup Urine Disease (MSUD): A metabolic disorder leading to a sweet-smelling urine and neurological problems.
7. Galactosemia: A rare genetic metabolic disorder that affects the body‘s ability to process galactose, a sugar in milk and other foods.

Immune System Disorders

8. Primary Immunodeficiency Disorders (PIDs): A group of genetic disorders impairing the immune system‘s ability to fight infections.
9. Autoimmune Lymphoproliferative Syndrome (ALPS): A rare genetic disorder causing the immune system to attack the body‘s own cells and tissues.
10. Hereditary Angioedema (HAE): A rare genetic condition causing swelling in various body parts, including the face, throat, and abdomen.

Musculoskeletal Disorders

11. Duchenne Muscular Dystrophy (DMD): A severe type of muscular dystrophy causing muscle weakness and wasting.
12. Spinal Muscular Atrophy (SMA): A genetic disease affecting motor neurons, leading to muscle weakness and atrophy.
13. Osteogenesis Imperfecta (OI): A genetic disorder causing bones to be brittle and easily broken.

Neurological Disorders

14. Neurofibromatosis: A group of genetic disorders causing tumors to form on nerve tissue.
15. Krabbe disease: A rare, often fatal degenerative disorder affecting the myelin sheath of the nervous system.
16. Batten Disease: A group of rare, inherited disorders of the nervous system that typically begin in childhood.
17. Ataxia Telangiectasia: A rare, inherited disease that affects the nervous system, immune system, and other body systems.
18. Rett Syndrome: A rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech.

Genetic Syndromes

19. Apert Syndrome: A genetic disorder characterized by abnormalities of the skull, face, hands, and feet.
20. Bloom Syndrome: A rare inherited disorder characterized by short stature, skin rash, and increased susceptibility to infections.
21. Ehlers-Danlos Syndrome: A group of inherited disorders that affect your connective tissues — primarily your skin, joints, and blood vessel walls.
22. Marfan syndrome: A genetic disorder that affects the body‘s connective tissue.
23. Tuberous Sclerosis Complex (TSC): A rare genetic condition causing mainly non-cancerous (benign) tumors to develop in different parts of the body.

Other Rare Disorders

24. Cystic Fibrosis: A genetic disorder affecting the lungs, digestive system, and other organs.
25. Gaucher Disease: A genetic disorder causing the buildup of fatty substances in organs.
26. Hunter Syndrome: A rare genetic disorder affecting many different parts of the body.
27. Niemann-Pick disease: A group of inherited disorders that affect metabolism.
28. Pompe disease: A rare genetic disorder that disables the heart and skeletal muscles.
29. Fabry disease: An inherited disorder that results from the buildup of a particular type of fat in the body‘s cells.
30. Metachromatic leukodystrophy (MLD): An inherited disorder that affects the nerves, muscles, and other organs.
31. Mucopolysaccharidosis (MPS): A group of inherited metabolic disorders.
32. Wilson disease: A rare inherited disorder that causes too much copper to accumulate in your liver, brain, and other vital organs.
33. Von Willebrand Disease (VWD): A bleeding disorder caused by a deficiency of von Willebrand factor, a blood clotting protein.
34. Progeria: An extremely rare, progressive genetic disorder that causes children to age rapidly.
35. Epidermolysis Bullosa (EB): A group of rare diseases that cause fragile, blistering skin.
36. Phenylketonuria (PKU): An inherited disorder that increases the levels of phenylalanine in the blood.
37. G6PD Deficiency: A genetic disorder affecting red blood cells, causing them to break down prematurely.
38. Alpha-1 Antitrypsin Deficiency: An inherited condition that raises your risk for lung and liver disease.
39. Amyotrophic Lateral Sclerosis (ALS): A progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control.

Hope and Progress

Despite the challenges, there‘s hope and progress in the field of rare diseases in India:

• National Policy for Rare Diseases (NPRD): The Indian government has formulated a policy to address the challenges faced by rare disease patients.
• Research Initiatives: Institutes like the Indian Council of Medical Research (ICMR) are undertaking research on rare diseases.
• Patient Advocacy Groups: Organizations like the Organization for Rare Diseases India (ORDI) are working to raise awareness and provide support.

What You Can Do

• Learn More: Educate yourself about rare diseases and their impact in India.
• Support Research & Advocacy: Consider donating to organizations working on rare diseases.
• Spread Awareness: Share information about rare diseases with your network.
• Get Involved: Connect with patient advocacy groups if you or someone you know is affected.

Let‘s work together to shed light on rare diseases in India and ensure that everyone affected receives the care, support, and understanding they deserve. By recognizing the stories of those living with these conditions, including prominent figures, we can foster a more inclusive and compassionate society.