Thank you for taking the time to visit my JustGiving page, raising money to support research into Kabuki Syndrome through The Kabuki Syndrome Foundation (KSF).

Kabuki Syndrome is a rare epigenetic disorder that affects the way cells throughout the body are formed. It usually causes slow initial growth, low muscle tone and affects learning - and frequently causes many other difficulties including with speech and feeding, anxiety, attention, and ASD like traits. It also often causes medical difficulties including epilepsy, joint laxity and dislocations, and immune system, kidney and heart problems. It is thought to affect around 1 in 32,000 people - including our daughter Roberta.

The mechanisms behind Kabuki Syndrome are just starting to be better understood, and KSF has developed a roadmap to refine this understanding, and accelerate the research into treatment candidates that might help with Kabuki (and possibly other epigenetic disorders). But medical research is expensive - and KSF have worked out they need nearly £3 million to fund this roadmap over the next two years.

This is ambitious - but so are the team behind KSF. Mostly also families of people with Kabuki, they are absolutely committed to using all the resources available to them to impact outcomes for people with Kabuki - and already have a phenomenal research network.

https://www.kabukisyndromefoundation.org/

I am raising money through Just Giving money to support KSF in delivering against their roadmap.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money to the Kabuki Syndrome Foundation via The Prism Fund (the UK fundraising vehicle that allows them to benefit from Gift Aid - as while working internationally they are US based).

Thank you for reading, and for considering offering your support. Having digested the work going on to date, I feel there is real hope for this roadmap and I am so grateful to you for thinking about helping KSF to deliver it.

Ellie