Rare Disease News

Casper is reportedly the only child in Wales living with a devastatingly rare disease for which there is currently no known cure.

Scurvy, a disease once common but now rare in Australia, has been linked to the death of a young boy.

Doctors initially misdiagnosed baby Florence Wilde's bloated stomach as constipation, but the reality was devastating. Her tummy ballooned, and she became run-d

A drug used to treat rare autoimmune diseases has been recalled in Ireland after being linked to 20 deaths in Japan.

Neena Nizar, through her determination, has become the first patient in a clinical trial for a rare disease that affects only 30 people globally.

A toddler in Washington state died from a rare brain-destroying amoeba, an infection with only about 200 recorded human cases worldwide and a 90% fatality rate.

Harper Tanton, a girl from Nova Scotia with the ultra-rare CTNNB1 syndrome, will be one of the first children globally to participate in a clinical trial for a

The first case of the rare and untreatable Bourbon virus has been confirmed in New York, a tick-borne illness often misidentified due to its rarity and symptoms

The children of a 'Gardeners' World' star have shared their heartbreak following his death at 67 from a rare disease, with Monty Don celebrating his 'legacy'.

Richard Stowe was diagnosed with early onset dementia at 53, a rare and often misdiagnosed disease that caused him to become 'angry and rude' before his death.