Action Medical Research | Born with a rare disease

Mark and Amanda's son Joshua was born with the rare disease Jeune syndrome. Joshua is now a very happy and lively little two-year-old who, "is continuing to prove everyone wrong," says his proud dad Mark. 

A baby born with Jeune syndrome will have a tiny bell-shaped ribcage as well as short arms and legs. Sadly they can face many other complications too. Those who survive face the prospect of long-term assisted ventilation and complicated surgeries.

Action Medical Research, BIA Charity of the Year 2019, is funding vital research into this rare, hereditary condition with no cure. For more information on the BIA's work on rare diseases, take a look at our Rare Disease Industry Group. Are you interested in joining us as Charity of the Year for 2020? Take a look at our application process here.