Joshua's story | Action Medical Research

Joshua's story

Jeune syndrome

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.

Nearly a month after Joshua was born on 5 June 2011, 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. The condition is inherited but 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.

“Our son continues to amaze us. Only a year ago he was dependent on us and his carers for all his position changes. Now he is sitting up and is trying to stand – he keeps us on our toes because he can certainly get about!” says Mark.

“We are hopeful that the research funded by Action Medical Research will help other parents like us. Genetic tests would’ve prepared us and may have saved us and Joshua some of the resulting trauma. Increased understanding of the condition is needed so that diagnosis and better treatment can be given sooner.”

Have you been affected by Jeune syndrome?

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