There were celebrations at the family conference for Chris' 18th birthday, pictured here with his mum Adele
A rare chromosome disorder previously known as 9q34 deletion syndrome has been named.
The syndrome is caused by a tiny part of chromosome nine being missing.
Its common symptoms include developmental delay, poor muscle tone and difficulties sleeping.
The syndrome has recently been named as Kleefstra syndrome after the key researcher into the condition, Dr Tjitske Kleefstra.
Tjitske is a clinical geneticist working at the Department of Human Genetics at Radboud University Nijmegen Medical Centre in the Netherlands.
She and her colleagues found that the EHMT1 gene is the major gene in the syndrome which is responsible for the majority of the symptoms when it is disrupted.
"Since our finding, the EHMT1 gene has been a major focus of my research and of that of my colleagues," says Tjitske. "I'm very thankful to all the families who take part in my research. I have great respect for the care of their own children and the responsibility they take to contribute to the general knowledge of this disorder."
First family conference
Saturday 17th April 2010 saw the first ever conference in the UK for children and families with Kleefstra syndrome. It was held by Unique - The Rare Chromosome Disorder Support Group and was made possible by the money you raised in 2009.
"We're very grateful for the grant from Jeans for Genes," said Prisca Middlemiss from Unique. "It meant that we were able to offer families a fully staffed creche and overnight accommodation so they could talk to experts and contribute to research.
"But most importantly they got to meet each other. Rare disorders like these can be so isolating and you can't underestimate how much it means to be able to spend time with people who know what your daily life is like."
Unfortunately the closure of British airspace due to the volcanic ash cloud meant that Tjitske couldn't make it to the event.
But researcher and cytogeneticist Dr Svetlana Yatsenko, was able to get there from Houston, Texas. She guided a webconference so that Tjitske could talk to families via Skype.
She did a presentation about how she identified the EHMT1 gene as the cause of Kleefstra syndrome and then held one to one clinics with all the families and chatted to their children.