In September 2019 I will be cycling 960 miles from Lands End to John O'Groats to raise money for Kabuki UK - none of the money raised goes to costs of the event and will go entirely to the charity.

Two extremely generous colleagues from Ardonagh [Rob Worrell and Nick Sharp] have volunteered to meet the challenge and help keep me going - as well as helping to raise money for KABUKI.

Why Kabuki UK?

My youngest daughter, Emma is now 5 years old and in her first year of school – a milestone in any child and parents life but of particular significance for our family when she has already overcome so many challenges in her life. 

When Emma was born she had a cleft palate, dislocated hips, hypermobile joints and severe feeding issues. She spent much of the first six months of her life in hospital as further issues became apparent – issues with development, hearing, kidneys, heart and immune
system. I can not express how difficult and isolating a period in our lives this was but one of the things that kept us going through this period was the support of families we met in the hospital, many of whom were going through much worse but still had time to offer support and kindness. 

Just before Emma turned one, she was diagnosed with Kabuki Syndrome - a very rare genetic condition that is caused by mutations to the MLL2 and KDM6A genes.  Although this diagnosis gave us an ‘answer’ to what was causing Emmas health problems it also left us with many questions about the future and, as the condition is so rare, many of the specialists involved in Emma’s treatment had little experience of the syndrome either.

The range of potential for Kabuki children is very wide and it was not clear if Emma would ever eat, whether she would be able to communicate or even if she would be mobile. Struggling to understand what the condition meant for Emma and us as a family was hard and very isolating -both of us struggled to understand and come to terms with the situation - fortunately my wife got in touch with Kabuki UK not long after Emma’s diagnosis and that summer we attended their annual family day, where the small number of families in the UK come together to meet, share information and forge links. The charity,founded by a group of parents in 2012, aims to raise awareness of the syndrome in the medical community and directly support affected families.

Meeting other families and being able to talk to other people who have already been through many of the same issues was incredibly important to us and their support has helped us through the past 5 years immeasurably. 

Whilst I am sure the future will hold further challenges for Emma she is now healthy and happy – she can communicate, she can run around with friends and, in the last few months, she has learnt to eat – meaning we could finally remove her feeding tube. 

Having benefited so much from the Kabuki community we are now at a point where we want to start to put more back in – and help Kabuki UK to support and fund the vital work that they carry out in this community. 

Thank you for your support.

Steve

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