Tag: Rare disease awareness

Progeria, or Hutchinson-Gilford progeria syndrome, is an extremely rare genetic condition that affects roughly one in four to eight million newborns. While no A-list movie stars have been diagnosed with the disease, several inspiring public figures and social media personalities have used their platforms to educate millions about what celebrity has progeria and to increase awareness of this rapid-aging disorder.

With a global incidence of less than 1 in 1 million people, Proteus syndrome is one of the rarest genetic disorders in the world. In response to the question, 'Does Proteus syndrome still exist?', the definitive answer is yes; although rare, new cases continue to be diagnosed.

Affecting an estimated fewer than 1 in 1,000,000 people, what is the Wagner disease is a question many have, and it refers to a rare hereditary eye disorder also known as Wagner syndrome or Wagner's vitreoretinopathy. This condition, first described in 1938, causes progressive vision loss due to the degeneration of the vitreous humor and retina. It is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene is sufficient to cause the disorder.

According to the National Organization for Rare Disorders (NORD), there are over 7,000 different rare diseases, many of which can affect multiple organ systems. So, what is a rare disease that affects the organs? A prime example is amyloidosis, a complex condition where an abnormal protein builds up and damages multiple organs throughout the body, including the heart, kidneys, and liver.

The symptoms of amyloidosis can vary dramatically among individuals, making diagnosis challenging due to its systemic and non-specific nature. So, **do you feel ill with amyloidosis**? The feeling of being unwell can present in varied and complex ways depending on which organs are affected by the abnormal protein deposits, often mimicking other conditions.

Cohen-Gibson syndrome, or COGIS, is a rare genetic overgrowth disorder that presents at birth or in early childhood. This condition, also referred to as Gibson syndrome, is characterized by increased growth parameters and developmental challenges that can vary in severity among affected individuals.