When we think of diseases, common lifestyle conditions such as hypertension, diabetes, migraines, and chronic illnesses like cancer and stroke often come to mind. However, beyond these familiar names lies a lesser-known realm of rare diseases. Let’s uncover some of these rare conditions and delve into what makes them so distinctive and why most of us have never even heard of them.
RPI Deficiency: Ribose-5-Phosphate Isomerase (RPI) deficiency is considered one of the rarest diseases in the world. It affects a crucial enzyme involved in the body’s metabolic processes. Symptoms include muscle stiffness, seizures, and a reduction of white matter in the brain. Remarkably, only one known case was diagnosed in 1984, and no new cases have been reported since. (Image: Cell Press)
Field’s Disease: Field’s disease is an extremely rare neuromuscular disorder, with only two known cases—twin sisters from Wales. It causes progressive muscle degeneration and weakness throughout the body. Medical experts continue to study the condition, and while it remains mysterious, there is potential for more cases to emerge in the future. (Image: Facebook)
Hutchinson-Gilford Progeria Syndrome (HGPS): HGPS is a genetic condition that causes rapid aging in children. Affected individuals may show signs of aging as early as two years old, including wrinkled skin, hair loss, and prominent eyes. It affects approximately 1 in 20 million people. There is currently no cure, but ongoing research aims to find effective treatments. (Image: Wikimedia Commons)
Methemoglobinemia: This condition results in an abnormal amount of methemoglobin—a form of hemoglobin that cannot carry oxygen—leading to blue-coloured blood. People with methemoglobinemia may have visibly blue skin, lips, and nails. It can be inherited or acquired and often causes fatigue and shortness of breath. (Wikimedia Commons)
Aquagenic Urticaria (Water Allergy): Aquagenic urticaria is an extremely rare condition where contact with water causes red, itchy hives. Individuals may also react to sweat, tears, and rain. Though not a true allergy, it is a hypersensitive skin response that can severely impact daily life. Treatment options are limited and mostly symptomatic. (File Photo)
Foreign Accent Syndrome: Foreign Accent Syndrome is a rare neurological condition where a person suddenly begins speaking with a foreign-sounding accent. It typically results from brain injury, such as a stroke or trauma, affecting speech patterns. The condition is not psychological but stems from physical changes in the brain’s language centers. (File Photo)
Lesch–Nyhan Syndrome: Lesch–Nyhan Syndrome is a rare genetic disorder caused by excess production of uric acid. It primarily affects males and leads to severe neurological and behavioural issues, including self-harm like head banging and hand biting. The condition is extremely rare, occurring in about 1 in 300,000 live births. (Image: Facebook)
Kuru Disease: Kuru is a prion disease historically found among the Fore tribe in Papua New Guinea. It was transmitted through ritualistic cannibalism, specifically the consumption of brain tissue. Symptoms include tremors, loss of coordination, and emotional instability. The disease has been virtually eradicated since the practice ended. (File Photo)
Harlequin Ichthyosis: Harlequin Ichthyosis is a severe genetic skin disorder where the skin forms thick, plate-like scales. These scales can crack and lead to infections, and the condition also impairs the body’s ability to regulate temperature. Though once fatal in infancy, survival rates have improved with modern medical care. (Image: New York Post)
Stone Man’s Disease (FOP): Fibrodysplasia Ossificans Progressiva (FOP), also known as Stone Man’s Disease, causes soft tissues like muscles and tendons to gradually turn into bone. This leads to severe immobility over time. The condition spares only a few muscles, such as those in the heart and eyes, and currently has no cure. (Image: Wikimedia Commons)
