“We don’t know what the future holds, but we’re hopeful that the research funded by Action will help other parents like us.”
Mark, Joshua’s dad
Jeune syndrome is a rare and incurable genetic condition affecting bone growth. Babies born with the condition will have tiny bell-shaped ribcages, short arms and legs, and a myriad of other potential complications. Sadly, babies with Jeune syndrome often die.
Joshua was diagnosed with Jeune syndrome when he was just a month old. In fact, doctors told his parents that his symptoms were so severe, he wouldn’t survive infancy. Against the odds, however, and after enduring painful surgeries, Joshua is now a happy two-and-a-half-year-old. He does have very complex needs though, and mum Amanda has had to give up her career to look after all his daily care.
With your donations, we can fund research that could make a real difference for families like Joshua’s living with conditions such as Jeune syndrome. Make that difference here, now. Thank you.
We are currently funding Dr Miriam Schmidts (pictured) to uncover the causes of Jeune syndrome, and hope this will lead to better, faster diagnosis of this devastating rare disease. You can read more about Miriam’s research, and the progress she has already made here.