A disease is considered rare when it affects a small proportion of the population. Despite their low occurrence, rare diseases can have a major impact on individuals and their families, typically due to diagnostic challenges, a lack of treatment options, and a significant burden of care. According to the World Health Organisation, uncommon diseases affect one or fewer people per thousand. Only about 5% of the world's more than 7,000 recognised diseases are curable. Here are seven rare diseases that are common in India:
Thalassemia
Dr Sowmya Raghavan, Obstetrician and Gynaecologist, Apollo Cradle and Children’s Hospital, Chennai, that the risk of having a kid with thalassemia is influenced by both parents' DNA, not the mother's age. She also mentioned that thalassemia is an autosomal recessive illness, which means that both parents must carry the defective gene for their child to be affected. "Therefore, it is vital for women to undergo genetic screening before conceiving, regardless of age.
Also read: Newborn Screening: Uncovering Rare Diseases and Providing Hope
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of haemoglobin, the protein in red blood cells that carries oxygen. It results in excessive destruction of red blood cells, which leads to anaemia.
Lysosomal Storage Disorders (LSDs)
According to the National Library of Medicine, Seventy LSDs have been described so far, and many more will likely be discovered in the future. Individually, they are rare, but they are common and justify the effort and expenditure invested in researching these conditions as a group.
LSDs are a group of around 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage disorders include diseases such as Gaucher's disease, Fabry disease, and Pompe disease. These conditions are characterised by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies.
Primary Immunodeficiency Disorders (PIDDs)
PIDDs are a group of more than 300 rare, chronic disorders in which part of the body's immune system is missing or functions improperly. Because one of the most important functions of the immune system is to protect against infection, patients with PIDD are more susceptible to infections compared to other people, and these infections may be chronic, severe, and hard to treat.
Hemangiomas and Vascular Malformations
Hemangiomas are benign tumours made up of blood vessels that most commonly occur in infancy. Vascular malformations are also composed of blood vessels but differ in their growth pattern and are typically present at birth. While they can occur anywhere in the body, their impact can range from simple cosmetic concerns to life-threatening complications depending on their size and location.
Duchenne Muscular Dystrophy (DMD)
DMD is a genetic disorder characterised by progressive muscle degeneration and weakness. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Onset of symptoms is in early childhood, usually in boys. The National Library of Medicine describes Duchenne Muscular Dystrophy as an uncommon yet catastrophic hereditary condition that mostly affects boys. This degenerative disorder entails the slow degradation of muscular tissue, greatly affecting a person's quality of life. Though rare, DMD is among the most frequent inheritable diseases.
Also read: Rare Diseases In Newborn Which are Difficult To Diagnose
Cystic Fibrosis (CF)
Cystic fibrosis is a rare genetic condition that primarily affects the lungs and digestive system. It causes the production of thick, sticky mucus that can clog the airways and trap bacteria, leading to recurrent respiratory infections. While CF is more common in Western countries, cases have been increasingly reported in India, albeit with lower prevalence.
Sickle Cell Disease
Sickle cell disease is a group of inherited red blood cell disorders. It is characterised by red blood cells that assume an abnormal, rigid, sickle shape. These sickle-shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body. Like thalassemia, sickle cell disease is more prevalent in certain regions and communities within India.
Challenges and Efforts
The challenges faced by patients with rare diseases in India include lack of access to diagnosis, expensive treatments, and limited awareness among healthcare professionals and the public. However, there have been growing efforts to address these challenges, including advocacy by patient groups, the introduction of national policies for rare diseases, and increased research and development for treatments.
Efforts are being made both at the governmental level and by non-governmental organisations to improve the lives of those affected by rare diseases in India, through better healthcare policies, awareness programs, and support for research and development of treatments.