A Nottingham girl who was unable to roll over or hold her head up has been given a heart-breaking diagnosis. One-year-old Katie Fox was diagnosed with Mitochondrial DNA-associated Leigh syndrome and according to her parents, is only expected to live until three to five years old.
Elaine Hodgkinson and Leigh Fox, from Clifton, said they felt as though they were already grieving for their daughter after receiving the devastating news on Monday, July 24. "As a mum you should never bury your child before yourself. There's not a day that goes by when that doesn't go through my head," said Ms Hodgkinson, 36.
"You carry on for your other children and for Katie, but there are no words. It's like we're grieving for her and she's still here. It's heart-breaking."
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Mitochondrial DNA-associated Leigh syndrome, also known as Leigh syndrome, is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement.
Ms Hodgkinson, a former care assistant, said she realised something was wrong with Katie just months after she was born. "At four months she was a lot more sleepy. She got to six months old and she was sleeping an awful lot, still like a new-born," she recalled.
"I was really starting to push with health visitors and GPs but I was ignored. I was told 'perhaps she is not developing as quick as other babies, keep doing what you're doing'."
She eventually got Katie an outpatient appointment at Queen's Medical Centre when she was eight months old. "She hadn't had any bowel movements for some time. The first thing the doctor said was 'you're not going to talk to me about her bowels are you?' and the floodgates opened. Finally someone was listening."
After a series of tests, including checking her blood and an MRI scan, the parents were told it could be Leigh syndrome. One month later it was confirmed.
Katie has numerous seizures everyday and suffers from cortical visual impairment. Despite this, Mr Fox said his daughter remains the "happiest little girl" who "adores" her five older siblings.
"It's a bleak outlook. But she's the happiest baby, smiling all the time," he said. "Even when she's in pain she smiles all the way through. You wouldn't think she's having all the problems she's having. We've just got to give her the best life possible, have fun days and take her abroad."
The parents started a fundraiser to help raise money for potential future treatment for Katie, as well as to raise awareness of her condition. "Nobody knows about it, there's nothing and there's hardly any research. We want to build the awareness up."
Ms Hodgkinson added: "There were things that health professionals should've picked up on that they didn't listen to. I went into the GPs crying, begging for help. All people said was 'you're doing an amazing job', how am I supposed to wean her onto solid foods?
"The advice I got was to sit her in a pushchair. It was ridiculous and shocking. All it would've took was a simple blood test."
To visit the fundraiser, click here.
