A mum has shared the ‘heartbreaking reality’ of her daughter’s rare condition which causes childhood dementia and limits her life expectancy to around 20 years.
When Ashley Haywood gave birth to her first child, she was overjoyed – but tragically her happiness was cut short, as her newborn’s breathing quickly started deteriorating.
Her baby, 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 haemorrhage.
Despite the treatments, Ashley, 36, had a gut feeling something else was wrong, so paid to have tests for Sanfilippo Syndrome – a rare gene defect that can affect growth and mental development, causing childhood dementia. It 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 and her loved ones try to come to terms with the prognosis.
‘It’s likely that my little girl will pass away before reaching adulthood,’ said Ashley, a full-time carer.
‘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.’
Sadie Rae was able to say her ABCs, count to ten and spell her name by the age of two, and last year was still able to speak in complete sentences.
‘Now, we’re lucky if she says two words together,’ Ashley continued.
‘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.’
What is Sanfilippo Syndrome?
Mucopolysaccaridosis type III (MPS III) – also known as Sanfilippo syndrome – is a rare genetic condition that causes fatal brain damage.
Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age 2-5 years. Mental and motor development peak by 3-6 years of age, after which intellectual decline usually occurs. Behavioral problems such as hyperactivity and irritability may become obvious earlier. Severe behavioral disturbance is a very common feature of Sanfilippo syndrome, and one of the more difficult aspects of the disorder to manage.
Other symptoms can include
- coarse hair
- excess hair growth (hirsutism)
- slightly coarse facial features
- sleeping problems
- mildly enlarged liver and/or spleen
- speech delay
- respiratory and ear infections
- diarrhoea
- hernias
- seizures
- a wobbly and erratic walk
- hearing loss and vision impairment.
Children with Sanfilippo syndrome usually start to lose their intellectual functions, especially speech, before their motor function declines. Death can occur from before the age of 10 or not until the third or fourth decades of life, with the average being around 15 to 20 years of age.
Yet through all this, Ashley and her family ‘still make sure to find joy in the little moments.’
The mum, from North Carolina, US, decided to get Sadie Rae tested as a distant relative was also dealing with the same condition.
Even so, Ashley says the result ‘shattered’ her entire world.
She added: ‘It’s the worst disease you’ve never heard of.
‘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.’
Because of her history of a brain hemorrhage and shunt, initially Sadie was not a candidate for any potential clinical trials.
At three years old, however, she was eventually accepted in one, which greatly improved her health for the next two years.
Sadly, the trial ended in April 2021, and no other company would fund the research as it was so expensive and there was such little 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.
‘We’ve accepted Sadie’s disease, but we’re still fighting for treatments,’ explained the mum.
‘The older she gets, the harder it will be for treatments to help.’
Although Ashley still struggled to see Sadie Rae ‘lose the skills she worked so hard to gain,’ her daughter’s ‘incredibly resilient’ spirit helps her through.
She added: ‘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.’
MORE : My daughter is going blind — this could be the last Christmas she ever sees
MORE : My dad was only 62 when he was diagnosed with dementia – we lost him 5 years later
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Sarah Carter is a health and wellness expert residing in the UK. With a background in healthcare, she offers evidence-based advice on fitness, nutrition, and mental well-being, promoting healthier living for readers.
