Boy, 5, diagnosed with rare 'childhood dementia' after specialist saw symptom in his face
A mum is raising awareness of her five-year-old son’s condition, often referred to as ‘childhood Alzheimer's or dementia’.
Sanfilippo syndrome is a rare, fatal genetic neurodegenerative disorder, affecting roughly 80 to 100 babies every 10 years.
Sophie Lowe’s son Bobby was diagnosed after the speech and language therapy team noticed a delay in his speech development in 2024.
“The symptoms are similar in some respects to older people’s dementia in terms of the commonly known ones like memory or mobility as the child gets older but in babies, they aren’t always apparent,” Sophie, who works for Blackpool Teaching Hospital Trust, explained.
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“The key symptoms in children with Sanfilippo syndrome are around speech and language delay, frequent infections and mild physical features.”
Children diagnosed with Sanfilippo syndrome rarely live beyond their early teens and the mother wants to make sure ‘Bobby gets the most out of his short life expectancy’.
Childhood dementia has a similar mortality rate to childhood cancer, with 204 recorded deaths per year from the condition compared to 260 annual childhood cancer deaths.
“He loves animals, tractors and nature so we want to spend as much time as we can giving him the chance to experience life as much as he can; and to get as much quality time with him while he is around,” she said.
“To us he was our baby, you don’t notice things that others might call ‘abnormalities’ you just brush them off because you love your child and you love them however they develop.”
Sophie is surprised that not more people are aware of Sanfilippo syndrome.
“If it’s causing a similar number of deaths as childhood cancer then why aren’t we paying more attention to it? Some consultants we have encountered don’t know what it is,” she added.
“I do admit though that the consultants we have been involved with have done their best to at least familiarise themselves with the condition before we meet with them.
“I can often see a page on their screen which shows they’ve looked it up before we arrive.
“Again, this is something we have noticed that makes the appointment more person centred when a specialist has taken the time to check on our individual circumstances.
“That’s great but I want to do more to make people aware of the condition in the first place.”
Sophie's dad Alan died unexpectedly passed away in March, as she says he and Bobby shared 'an incredibly special bond'.
At the time of writing, over £5,000 has been raised on JustGiving, as Alan’s close friend Kass is walking from Brighton to Blackpool to raise money for Bobby and awareness of his condition.
"The money raised will help with Bobby’s care and the many additional needs that come with living with Sanfilippo syndrome. As his condition progresses, his needs become increasingly complex, and the financial pressures can be overwhelming," Sophie writes.
"The funds will help us provide specialist care, equipment, activities, experiences and support to make Bobby’s life as comfortable, fulfilling and joyful as possible."
Anish Vij