Chris and Fiona are proud parents to Leah and Lucas. Their first child Leah was born in 2006 and diagnosed in 2007 with Ks or 9q34.3 deletion syndrome (as it was known then). At the time it was thought that Leah was the 35th individual in the world to be identified with the syndrome. Both Chris and Fiona took to the internet in search of answers and at that time there was little information available, what they did find was difficult to understand and very negative. Chris works in ICT so it was a natural step to bring the small community of families together with our own website and members forum. Of course no one expected the community to grow so rapidly. Together with the support of the Ks.org team, Chris and Fiona have arranged family events and conferences to bring together families and professionals.
Justine is Mum to 2 Children. James who is 17 and Alexis who is 3. James was diagnosed with a deletion at 9q34.3 (later named Kleefstra syndrome) in September 2005, just after his 5th birthday. Having known Chris and Fiona for a long time, and being a qualified accountant, when a vacancy for a treasurer arose she was keen to be able to offer her services to support something so close to her heart. Life with James can be a challenge especially as he approaches adulthood but he is a happy young man who faces these challenges head on.
Joanna and her husband Hedley are parents to Ellie, who was diagnosed with Ks in 2009, at the age of 13. Ellie has an older brother and younger sister and has therefore grown up in the heart of the family. Joanna is a qualified Nurse and Midwife and has found her professional skills a huge advantage when dealing with Ellie’s various health issues over the years.
The absence of a diagnosis for 13 years, and the rarity of the eventual diagnosis, meant that Joanna’s experience of having a child with Ks was very isolating. Thankfully, with the creation of the charity and the community that has continued to grow as a result of it, this no longer needs to be the case.
Joanna is delighted to be part of the team providing not only support, advice and friendship to other families, but also raising awareness amongst professionals too.
Jane has two daughters, Ella and Cleo. In early 2015, Ella (then aged 2) was diagnosed with an intragenic EHMT1 mutation. Shortly after that, with a background in digital marketing Jane was happy to help when Kleefstrasyndrome.org first set up their Twitter account. She has progressively become more involved in the charity’s work and is passionate about spreading the word and giving strength and support to people affected by Kleefstra syndrome.
Hi I’m Donna, mother to Faith & Fabian. Faith was born December 2006 with what was first thought to be Down syndrome but within a few weeks Faith was diagnosed with 9q 34.3 deletion syndrome, later to be named Kleefstra syndrome. Two words to describe life with Faith beautiful & challenging. The Kleefstra charity has always been close to our hearts after meeting Fiona, Chris and Leah when Faith was just 1 years old. We have watched how they have grown the charity to what it is now and I’m proud to be a part of it.
Page updated: 08-05-2019