A mum has shared the “heartbreaking” reality of her daughter’s rare gene condition that causes childhood dementia and has a life expectancy of up to 20 years.
When Ashley Haywood gave birth to her first child, she was overjoyed – but sadly, this feeling wasn’t to last as her newborn’s breathing quickly started deteriorating.
Her plucky tot, Sadie Rae, now seven, was rushed to undergo multiple procedures and surgeries over the next three months, including a shunt in her brain as a result of a brain haemorrhage.
The 36-year-old, who had a gut feeling there was something else wrong, paid to have tests for Sanfilippo Syndrome, a rare gene defect that can affect growth and mental development, which came back positive.
Now, the family are sharing their battle to raise awareness for other parents on the signs to look out for while Sadie Rae’s “heartbreaking” future becomes a reality.
“It’s likely that my little girl will pass away before reaching adulthood,” Ashley, a full-time carer, told NeedToKnow.co.uk.
“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 ABC’s, count to 10, and spell her name.
“A year ago, she could speak in complete sentences.
“Now, we’re lucky if she says two words together.
“She loved to sing, but has now 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.
“Despite this heartbreaking reality, we still make sure to find joy in the little moments.”
Ashley, from North Carolina, US, decided to get the aforementioned tests due to a distant relative also dealing with the same condition – but says that the result “shattered” her entire world.
She said: “It’s the worst disease you’ve never heard of.
“I knew she would suffer seizures and a host of other issues.
“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 expensive 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 added: “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.
“It will never get easier seeing Sadie lose the skills she worked so hard to gain.
“But she is incredibly resilient.
“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.”
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