Joshua's story (Jeune)

Nearly a month after Joshua was born, tests revealed that he had Jeune syndrome, a rare and incurable hereditary condition. Babies with Jeune syndrome are born with short arms and legs and an unusually narrow ribcage.

Joshua is a very happy and lively little boy who is "continuing to prove everyone wrong,” says his proud dad Mark.

All the more amazing as, at her 20 week pregnancy scan, mum Amanda was advised that her unborn son appeared to be affected by some form of dwarfism, with legs and arms much shorter than expected. The news was traumatic.

A month after he was born he was diagnosed with Jeune syndrome, an inherited condition. In many cases the diagnosis comes as a shock as parents are often unaware they are carrying a gene for the condition.

From birth, Joshua struggled with breathing problems. Gradually things got worse and he needed more and more oxygen. Joshua has endured two major invasive chest surgeries, to help him breathe and even now needs a ventilator to help him breathe both day and night.

Having a child with Jeune syndrome has affected the family’s lives in every way. Amanda is unable to work, being Joshua’s primary carer, supported by other carers when needed. Joshua finds it difficult to cope if he picks up a common infection like a cold, but weekly physiotherapy is helping him to become stronger.

Read more about one of our research successes, a significant breakthrough in understanding Jeune syndrome.