A toddler who was diagnosed with Metachromatic Leukodystrophy at just three years old may not live to see her ninth birthday, her mother has revealed.
Darcy Ratchford, five, from Wigan, lived a normal life until she turned three when mother Niomi Horrocks decided to take her to hospital to have a check-up regarding her daughter’s mobility.
Doctors gave her an MRI scan and delivered the devastating news – she was suffering from a rare brain disease called Metachromatic Leukodystrophy (MLD), which has a life expectancy of up to nine years old, and causes dementia.
Two years on, her life has completely changed as the disease has taken away her mobility, sight, cognitive development, speech, ability to eat or drink, and is now tube fed while needing 24-hour care.
But Ms Horrocks, 24, refuses to let the terminal condition get in the way of what little time Darcy has left and is now raising money to create as many memories as she can.
Darcy Ratchford showed no signs of the disease for the first three years of her life, but just two years later is unable to do anything by herself
Her mother Niomi Horrocks, a former dementia care assistant, is now her full time carer
Ms Horrocks recently took Darcy to Disneyland Paris, a place that Darcy always wanted to go
Darcy’s life expectancy is estimated, and Ms Horrocks believes she’ll live far past nine.
Mr Horrocks hopes that Darcy’s story will inspire more awareness on the condition
What is Metachromatic Leukodystrophy (MLD)?
Metachromatic Leukodystrophy (MLD) is a rare, genetic, degenerative, neurometabolic disorder that affects approximately one in 40,000 people (primarily children) worldwide.
It is an inherited disease, but parents are typically not affected.
At present, it is a disease for which there is no cure. Those affected with MLD are deficient in the arylsulfatase-A enzyme, which is responsible for breaking down fatty substances called sulfatides into harmless chemicals.
A person with MLD cannot break down these sulfatides, causing them to accumulate in the body.
This accumulation causes the destruction of myelin (demyelination), which is the protective covering on the nerve fibers that enables communication between the nerves and the brain.
All information courtesy of The Evanosky Foundation.
Ms Horrocks, said: “I think I was in denial when I was told she would lose her mobility, speech, and ability to eat as she was just normal for the first three years of her life. But the progression all happened so quick I didn’t really have time to process it or my feelings.
‘I just take each day as it comes because every day varies for Darcy and it depends how she is day to day pain wise. I’m just so grateful she has the ability to smile and laugh and show some emotion.
‘I had to leave my job as a dementia carer to become Darcy’s full time carer. My family are supportive and we just try to make as many memories with her as we can, I just get on with it like any parent would really.’
Ms Horrocks said the hardest part of the diagnosis was watching her daughter have a ‘normal’ life for three years before the disease took hold.
She added: ‘I’m grateful to have had three healthy years of her.
‘I’m proud because she’s always so happy and smiling unless she’s in pain, she’s on multiple medications daily to help manage it. Other than that she’s just always smiling and a happy little soul.’
Darcy regularly has check-ups with her specialist so they can keep on top of the disease, but due to its rapid progression she may not see her ninth birthday.
And Ms Horrocks hopes that her story will create greater awareness on the little-known condition.
Mr Horrocks added: ‘They gave us a life expectancy of five to eight years from her diagnosis, but I believe she’s a fighter and will exceed that expectancy. She’s very alert and content at the moment.
‘I think MLD needs to be added to the foot prick test as treatment is only available for pre-symptomatic children, but diagnosis only comes once symptoms have started so it’s too late like in Darcy’s case.
‘The MLD foundation are working hard to try and get it added to the foot-prick test.’
Their GoFundMe is still live, and you can donate here.
Source: | This article originally belongs to Dailymail.co.uk