A little girl who was born with a condition so rare doctors could not even give her a predicted life expectancy has defied the odds as she approaches 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, epilepsy and severe bowel problems. She is both physically and mentally disabled and is a non-verbal child.
Her mum, Colleen Thomas, said: “The fact she is still here with us is such a blessing and as a family we live in the moment and try to enjoy life as much as we can because we don’t know what is around the corner for Lola.” The chromosome disorder known as Kleefstra syndrome was so rare that when she was born only 20 people in the world suffered with this, now there are 350.
Colleen, 44, who lives on Macclesfield Road, Buxton, said: “The doctors are learning just as much as we are, so it is a journey for everyone on how to treat her.”
Lola attends Peak School in Chinley and her younger brother, Jude, is a pupil at Burbage Primary School.
Due to a twisted bowel, Lola has had two surgeries to try and rectify the problem, however sometimes scar tissue causes her severe stomach problems which ultimately require further surgery.
Colleen said: “In the past year she has had bad episodes on a plane coming back from a family holiday in Spain, Christmas Day and her brother’s birthday, and it’s times like that which make it tough, but we don’t want her life to be defined by her illness so we just work through it.
“Having Jude was a tough decision and we had lots of extra tests to be sure, but he finishes off our family and gives Lola someone to interact with which is great.” Lola’s family say she has a wonderful personality and loves cuddles and smiling, although she does suffer with Seasonal Affective Disorder.
The family are trying to raise £10,000 for an intensive rehabilitation course in Turkey which will see Lola work with trainers who will assess everything from her walking to trying to improve her eye contact. They are also aiming to get dolphin therapy for Lola.
Colleen said: “It’s not a holiday. We already receive hydrotherapy and physiotherapy in England, but nothing is this advanced and I have never asked for help before but I know this will dramatically improve her quality of life.”
She was keen to stress that was a last resort for the whole family.
Fundraising for Lola
Colleen hopes the intensive rehabilitation will also improve Lola’s epilepsy and her muscle tone.
“Because she doesn’t use her muscles they are very soft,” said Colleen. “She can sit up on her own, but crawling makes her very tired.”
A team of parents are doing a Tough Mudder in September, and the current total raised stands at £1,400. To donate, visit https://crowdfunding.justgiving.com/Lola-Thomas