Rare Diseases

7 guides

Alveolar EchinococcosisWhat is it? Alveolar echinococcosis is a parasitic infection caused by the tapeworm Echinococcus multilocularis. It primarily affects the liver, but can also spread to other...Read guide
Fabry's DiseaseFabry’s disease is a rare genetic disorder caused by mutations in the GLA gene, resulting in deficient activity of the enzyme alpha-galactosidase A (α-Gal A). This enzyme...Read guide
Living with Marfan SyndromeWhat is it? Marfan syndrome is a genetic connective tissue disorder affecting the heart, blood vessels, eyes, and skeleton. It can lead to serious complications if untreated.Read guide
Managing Sickle Cell AnaemiaWhat is it? Sickle cell anaemia is a genetic blood disorder that causes red blood cells to become misshapen, leading to reduced oxygen flow and complications like pain and fatigue.Read guide
Rare Types of EpilepsyWhat is it? Rare types of epilepsy include less common seizure disorders such as Lennox-Gastaut syndrome, Dravet syndrome, or Rasmussen’s encephalitis. These conditions often...Read guide
What is Huntington’s Disease?What is it? Huntington’s disease is a genetic neurological disorder that causes progressive degeneration of nerve cells in the brain. It affects movement, cognition, and behaviour.Read guide
Wilson’s Disease: Symptoms and CareWhat is it? Wilson’s disease is a rare genetic disorder that prevents the body from eliminating excess copper, leading to copper accumulation in the liver, brain, and other organs.Read guide