A Buxton girl born with a condition so rare doctors could not give her a life expectancy has defied the odds and celebrated her tenth birthday.
Lola Thomas was born with the tip of her ninth chromosome missing, which has led to medical complications all her life including heart surgery at five-months-old and epilepsy. She is both physically and mentally disabled and is a non-verbal child.
Her mum, Colleen Thomas, said: “Birthdays are very tough. I would say it’s the hardest time of the year as it is a very personal day for Lola and she doesn’t even know.”
The chromosome disorder known as Kleefstra syndrome was so rare that when she was born only 20 people in the world suffered with it, now there are 350.
Colleen said: “It got easier when we had Jude. Even though he is younger, that’s the day he steps up and says he is a big brother and opens her presents because she can’t.”
The Macclesfield Road family are trying to raise £10,000 to get Lola an intensive rehabilitation course in Turkey which will see her work with trainers who will assess everything from her walking to trying to improve her eye contact.
Colleen said: “She used to be a proper cake fiend and now she has to be tube fed so it is sad she can’t even have any cake on her birthday.
“But her birthday is not a sad occasion, it is a brilliant and happy day and one doctors did not think she would make, so we will be celebrating for her.”
Last week two fundraisers took place for Lola, a cake sale which raised more than £550 and was organised by a pupil at Burbage Primary School where Jude attends.
A group of Burbage parents also took on Tough Mudder.
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