Boy with rare genetic disease is inspiration behind family fun morning in Dunchurch

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A Rugby boy with a rare genetic disease is the inspiration behind a family fun morning next month.

It takes place at Dunchurch Village Hall on June 15, from 10am – 12pm, in honour of Oscar.

Mum Kelly, who has asked this paper not to use their last name, said her son was born five ye ars ago after a traumatic birth.

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Oscar was diagnosed with a very rare genetic disorder called CTD, which stands for Creatine Transporter Deficiency which is mutations in the SLC6A8 gene.

Smiling Oscar is the inspiration behind the fundraising.Smiling Oscar is the inspiration behind the fundraising.
Smiling Oscar is the inspiration behind the fundraising.

The disease affects just 350 people in the world.

The genetic mutation causes symptoms including delayed speech/no speech, autistic traits, delayed development, long QT of the heart, low muscle tone and intellectual delay along with other elements.

Since his diagnosis, Kelly has been raising money for the Association for Creatine Deficiencies.

Suggested ticket donation for the event is £5 per person.

Attractions include bouncy castles, soft play, colouring table and face-painting. There will also be a silent auction, cake and refreshments.

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Kelly is also taking part in a sponsored ‘Walk for Strength’ at Coombe Abbey on June 16 and her target is £1,000.

She said: “Oscar is an amazing inspirational little boy who always has a smile on his face and as his parents we could not be any prouder of him.

"We are working with the organisation ACD to raise funds into research to help find more information and a cure for creatine deficiencies in the hope that one day this will help Oscar and many other children and adults with this rare condition.”

Donations can be made on the day or by visiting