A CHARITY trustee has set up an advent trail in her village to raise funds and awareness of an incredibly rare condition.
Liz Cook has set up the festive trail in Comberbach to help raise the profile of Cask Research Foundation, which aims to raise valuable funds for research into the CASK gene and improve the lives of children living with this rare disease.
CASK gene mutations cause two genetic conditions of the brain and are normally associated with microcephaly and a small cerebellum, which can have severe life-limiting consequences, and cause learning difficulties and problems with movement and coordination.
Each day in December, a new advent window will be revealed in the Comberbach with Christmas decorations to wow residents, all while raising awareness of the condition.
There are only 35 diagnosed cases in the UK and less than 200 worldwide.
Liz said: “The whole village has got behind the idea; the school, the pub, the Guides, the chapel, and the post office where people can find the trail maps.
“I know our village children will enjoy finding the advent numbers in people's windows and hopefully we can raise not only funds but also awareness.”
Explaining her connection to CASK Research Foundation, Liz explained: “I am a trustee and treasurer.
“My friend Laura Elizabeth Hattersley, who grew up on the same street as I live on in Comberbach, gave birth to Sarah on August 10, 2013.
“When Sarah was born there was no indication that she was any different from any other child.
“At her six-week check the doctor/midwife/medical professional couldn’t find Sarah’s fontanelle (soft spots on a baby’s head where the plates that make up the skull have not come together yet).
“At nine months, Sarah was diagnosed as having a defective CASK gene which had already caused lots of damage to her developing brain and would go on to cause global development delay, epilepsy (infantile spasms which cause more damage to the brain each time they occur), amongst many other complications.
“Sarah’s mum Laura set up the charity CASK Research Foundation, to fund research into this ultra-rare condition.”
The advent trail is something Sarah has enjoyed in her own village in Hampshire, because of the twinkly lights and a roll with mum and dad and brother Felix in her wheelchair.
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