‘Worst disease you’ve never heard of’ steals girl’s ability to walk, talk, eat and sing – after she hit all milestones
SADIE Rae Haywood looks like any other seven-year-old girl.
But the youngster likely won’t live past the age of 20.
She has a rare genetic condition that causes childhood dementia, which has robbed her of her ability to walk, eat, talk and sing.
Her mum Ashley Haywood has shared the “heartbreaking reality” of watching her child fade away in front of her eyes – and knowing she’ll probably outlive her.
“It’s the worst disease you’ve never heard of,” she said.
When Ashley gave birth to her first child, she was overjoyed.
But sadly, this feeling didn’t last as little Sadie Rae’s breathing quickly started to deteriorate.
The tot was rushed to hospital and underwent several operations over the following three months.
She also had a shunt implanted in her brain as a result of a haemorrhage.
Ashley, 36, knew in her gut that something else was wrong so paid for further private testing.
This revealed Sadie had Sanfilippo Syndrome – a rare gene defect that can affect growth and mental development.
Despite reaching many ‘normal’ childhood milestones, “it’s likely that my little girl will pass away before reaching adulthood,” Ashley, a full-time carer, said.
“With this disease, I knew she would lose the ability to walk, talk, and feed herself in childhood – and forget everything she’d learned as a result of childhood dementia.
“Before she was two years old, she could say the ABCs, count to 10, and spell her name, and a year ago, she could speak in complete sentences.
“Now, we’re lucky if she says two words together.”
Sadie, who loved to sing, has also forgotten the words to most of her favourite songs.
“She is also forgetting how to eat, so we have to remind her how to swallow,” Ashley added.
“Despite this heartbreaking reality, we still make sure to find joy in the little moments.”
It’s the worst disease you’ve never heard of.
Ashley Haywood
The family, from North Carolina, US, only decided to get the test for Sanfilippo Syndrome as a distant relative had also dealt with it.
They say they are sharing their battle to warn other parents of the symptoms, which have “shattered” their entire world.
“I knew she would suffer seizures and a host of other issues,” Ashley said.
“We talked to doctors all over the world and travelled all over the US getting more information about potential clinical trials, but Sadie was not a candidate for any because of the brain haemorrhage and shunt.
“We had all the typical hopes and dreams for our baby girl, like her learning how to ride a bike, going to college and her dad walking her down the aisle.
“We quickly learned that none of that would be possible, and it was very hard to accept.”
At three years old, Sadie was enrolled in clinical trials and for two years, she was thriving and healthy.
Sadly, this ended in April 2021 and no other company would fund the research due to the cost and lack of demand as the condition is so rare.
Now, Ashley and her sister, Jessica, 36, are dedicating their time to caring for Sadie, while campaigning for more effective treatments and raising awareness on social media in hopes for a cure.
The mum said: “We are hopeful that other trails will happen soon, and Sadie might get another chance.
“We’ve chosen to be more public with our lives than we ever imagined.
“Rare diseases often rely on funding from families to get research started, so we share Sadie’s story to spread awareness and generate more research funding through the Cure Sanfilippo Foundation.
“We’ve accepted Sadie’s disease, but we’re still fighting for treatments.
“The older she gets, the harder it will be for treatments to help.”
She added: “It will never get easier seeing Sadie lose the skills she worked so hard to gain, but she is incredibly resilient and she doesn’t let her disease get her down.
“She has taught us, and many people online, so much about being present and happy with what you’re given.
“We hope that this disease never steals her joy.”
What is Sanfilippo Syndrome?
SANFILIPPO Syndrome – also known as Mucopolysaccharidosis type III or MPS III – is a rare neurodegenerative disease.
It causes children to lose all the skills they’ve gained (like talking and walking), suffer seizures and movement disorders, and experience pain.
Its symptoms, which worsen as kids get older, mean it is often described as causing childhood dementia or Alzheimer’s.
Sanfilippo Syndrome is estimated to affect one in every 70,000 births.
It occurs in children born with a single genetic defect that causes their body to lack a necessary enzyme.
Symptoms, which also include speech and language delays, ear infections, headaches, sleep problems and hyperactivity, usually surface between the ages of one and six.
Sadly, it has a 100 per cent mortality rate, with sufferers typically passing away in their early teens.
There is currently no cure, but clinical trials for enzyme replacement therapy and gene therapy are taking place.
Source: Cure Sanfilippo Foundation