Wendy’s first grandchild, William, was diagnosed with Kleefstra Syndrome just after his first birthday in 2014 and remembers the early days of his diagnosis well. She first heard of the Charity through Williams parents, Paul, and Emma, as they found the information and support from the Charity invaluable. They attended both the 2015 and 2018 Conference and even managed to speak to Dr Kleefstra herself. They enjoyed the opportunity to meet other children and families in the same position as them and told Wendy all about it.
Wendy has Chief Executive experience in managing Charities, supporting people in need, such as homeless people and vulnerable families, and found by chance that the founder members, Chris, and Fiona were stepping back from their Chair and Trustee roles to concentrate more on their family. She immediately expressed an interest in supporting the Charity, to bring her expertise and passion of supporting families to help continue the fantastic work that Chris and Fiona have done to develop the website and support network.
She aims to use her connections and knowledge to ensure the families have access to relevant information, helpful support links, the latest medical updates, and the opportunity to meet other families with children and young people diagnosed with Kleefstra Syndrome.
Anna is the mom of Hunter (6) and Hazel (2). Hunter was diagnosed with Kleefstra Syndrome at 4 weeks old. He was born with a congenital heart defect, which prompted the early genetic testing.
Anna remembers the early days, feeling lost and scared for the future. Being a first-time mom, the early diagnosis was simply overwhelming. Making contact with other families that had gone through similar was the best support she could have hoped for. Feeling understood and having other parents tell you “you will be fine” and “you are not alone” helped getting through the tough first year.
Six years later Anna is excited the get involved with the Charity and help other parents to navigate a life with Kleefstra and tell families that “they will be fine”, because they will.
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.
Chris Heslehurst is the proud father to Leah and Lucas. 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. When receiving the diagnosis Chris and his family 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. In 2009, Chris and his wife Fiona began a project to change this by bringing together a small community of families. Later they developed the website and finally in 2017 they both founded the Kleefstrasyndrome.org charity.
Fiona stepped down from the charity in 2021, 12 years after starting the project. Chris continues on as a trustee after also stepping down from the Chair position in 2021.
Page updated: 24-09-2021