Evesham family’s joy as Bell Tower shines light on rare disease - The Evesham Observer

Evesham family’s joy as Bell Tower shines light on rare disease

Evesham Editorial 3rd Mar, 2023   0

AN EVESHAM landmark turned pink, lime green and blue to raise awareness of the 3.5million people in the UK – including a town youngster – living with a rare disease.

The Bell Tower shone a light on Rare Disease Day on Monday (February 28) in a bid to spread hope, help with diagnosis, improve access to treatments for many and improve inequality and isolation.

It was an occasion to remember for six-year-old Ailla Richards and her family who were part of the ceremony in the church grounds.

In 2019 Ailla was diagnosed with ultra-rare CASK gene disorder aged just three-years-old.

It was discovered after the family took part in the 100,000 Genomes Project, a British bid to sequence and study health and disease to provide answers to those suffering from a ‘syndrome without a name’.

Ailla, daughter to Emily and Nick and sister to Ben, is one of only 250 patients globally and 27 in the UK affected by this disease which can have severe life-limiting consequences.

Most CASK patients suffer severe intellectual disability, autism, visual impairment, difficulties with movement, are non-verbal, struggle to learn to walk, and many cannot feed themselves or learn basic life skills.

Some suffer severe and frequent seizures which are not responsive to medical therapies.

However, hope is on the horizon as the UC Davis University in California, has proposed a research study into a possible gene therapy cure for the CASK gene mutation.

A UK charity, the CASK Research Foundation, was founded in 2022 by a fellow CASK mother, in the hope of raising the £1.2million required to fund this research as part of the CURE CASK campaign.

Emily Richards, Ailla’s mum, said: “My daughter suffers from an ultra-rare genetic disease, and so this day means a lot to my family, and I’m sure other families in Evesham do too.

“I often see Evesham Abbey lit up beautifully in remembrance and it makes me stop and think of others.

“I hope that other people will do the same now. I want to thank All Saints Church for supporting this very worthwhile cause.”

The lighting of Evesham Bell Tower was one of a global ‘Chain of Lights’ taking place on Rare Disease Day.

Thousands of events including building illuminations, fund-raisers, sporting events, scientific conferences, art exhibitions, policy events took place in more than 100 countries.

Vicar of Evesham, the Rev Andrew Spurr, said: “Advances in genetic technology mean that we can now identify an increasing number of conditions which we could only dream of even ten years ago.

“The funding for this kind of research increasingly falls to charitable donations.

“We at the parish church are delighted to be able to raise the profile of Rare Disease Day, a sign of hope for families whose loved ones will benefit from the work it makes possible.”

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