Jeune Syndrome receives gene research boost
- 27 December 2013
- From the section Health
It was at the 12-week scan that problems with Amanda's pregnancy were first noticed.
At the next scan, Amanda and her husband Mark were told that their unborn son would not survive the pregnancy - but they could not bring themselves to go through with a termination.
Joshua Adair was born in June 2011 with a rare and incurable condition called Jeune Syndrome, which means he has short arms and legs and an unusually narrow ribcage.
It was a difficult start to life for their second child, who spent his first month in an incubator at Manchester Children's Hospital receiving help to breathe. As his breathing problems worsened, he needed more and more oxygen and was eventually put on a ventilator.
At one point, his parents were told he had only weeks to live.
"His ribs were not growing so it was becoming more difficult for him to breathe on his own, so we had a rushed christening after three weeks," says his mum.
"At that point we said we would do anything to help save his life - and that's when we got in touch with Great Ormond Street Hospital."
The answer for Joshua was chest expansion surgery which involved breaking all his ribs and resetting them using metal plates, to leave room for the chest cavity to grow.
But the operation almost didn't happen when he had a cardiac arrest after picking up a serious infection.
In the end, the surgery took place and was a success. Joshua returned to Manchester five days afterwards to continue his recovery.
Joshua is now two and a half years old - and it's only in the last four months that he has finally been able to live at home with his family.
Amanda says it's been a very hard road.
"He spent his first birthday in a high dependency unit and then after we moved house last October he came home for Christmas for one day, but he got a chest infection and ended up back in ICU for two weeks."
Every little cold and infection is a major health issue for Joshua, who may be on a ventilator permanently.
Yet, despite his many physical problems, Joshua has surprised his family and his doctors. He can now sit up on his own, roll onto his tummy and make lots of noise, although he cannot talk because of a tracheotomy.
"He's a lot more aware now, and more affectionate. He can smile and shake his head too."
Joshua needs 24-hour care so Amanda has given up work to look after him, but she is also assisted by other carers who can take him to nursery or out in his specially adapted pram to accompany his seven-year-old brother Ethan to school.
Jeune Syndrome is thought to affect around 600 people in the UK and although it is inherited, parents are usually unaware they are carrying a gene for the condition.
Research suggests that those with the disease have hair-like structures on cells that help bone growth - called cilia - that do not work properly.
Dr Miriam Schmidts, clinical research fellow at the Institute of Child Health at University College London, has been funded by Action Medical Research to look at the genes behind the condition.
Her research has found three genes related to Jeune Syndrome and this means scientists can now explain 70% of cases. They can also offer prenatal diagnosis much earlier in pregnancy.
Dr Schmidts says the impact of new gene sequencing methods on her research has been revolutionary.
"Lots of different genes can have mutations. Before we had to screen a lot of genes, but now we can see all the genes in the human body at the same time.
"If each genome is a library and each chromosome a book shelf, then each mutation would be a spelling mistake.
"So finding the mutation was a really slow process. We can't cure genetic defects but families do feel better if they know what's wrong with their child."
The gene discovery also means scientists will be able to understand more about what causes the condition, which could help them explore avenues for treatment in the future.
Joshua had more chest surgery in April this year, this time using artificial bones to remodel his ribcage instead of titanium plates. Again, the operation was a success, giving more room for Joshua to grow and his chest to expand.
Not bad for a boy who wasn't given a chance.