A five-year-old boy has been diagnosed with Sanfilippo syndrome, a rare and fatal condition known as “childhood dementia”, after a consultant noticed subtle facial features during a follow-up appointment. His mother, Sophie Lowe, is now determined to help him experience as much of life as possible and is raising awareness of the condition.
Sophie’s son Bobby was diagnosed with Sanfilippo syndrome in 2024. The genetic condition affects the brain and nervous system, causing symptoms related to learning, behaviour and movement that worsen over time and can lead to premature death.
Path to diagnosis
A delay in Bobby’s speech led to a visit to the speech and language therapy team, followed by a referral to ENT for hearing tests. He then came under the care of the audiology team, where a consultant noticed facial features associated with the condition.
Sophie, who works for Blackpool Teaching Hospital Trust, said: “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. The key symptoms in children with Sanfilippo syndrome are around speech and language delay, frequent infections and mild physical features.
“If it hadn't been for the diligence of the teams making the referrals to other specialists and one person pulling it all together, the condition in Bobby might have been missed. Instead, he was referred to Manchester for genetic testing where Sanfilippo syndrome was identified and the diagnosis made.”
She added: “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.”
Impact on the family
Children with Sanfilippo syndrome rarely live beyond their early teens. Bobby is now under the care of several specialist teams, meaning the family have to juggle numerous appointments. Sophie explained: “He can have multiple appointments a week.” She thanked the teams caring for Bobby, saying she is “so grateful for it.”
The family are focusing on the memories they can make together. Sophie said: “Our priority now is making sure Bobby gets the most out of his short life expectancy. 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.”
Raising awareness
Childhood dementia has a death toll comparable to childhood cancer, with an estimated 204 deaths a year compared with 260 annual childhood cancer deaths. Sophie said: “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 said some specialists had researched the condition before Bobby’s appointments. She added: “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.”
The family faced a devastating loss in March when Sophie’s dad Alan died unexpectedly. She said he and Bobby shared “an incredibly special bond”. She said: “Bobby absolutely idolised his grandad. He was his world, his safe place, his hero. Their relationship was something truly beautiful to witness, and losing my dad has left a huge hole in all of our lives — especially Bobby’s who still calls his name most days.”
Alan’s close friend Kass is walking from Brighton to Blackpool to raise money for Bobby and awareness of his condition. He set off on September 28 and has been averaging around 15 miles a day. In an update on 4 October, Sophie said: “It’s been a tough couple of days. Severe blisters forced Kass to come off his feet and seek medical attention after setting off towards Slough. Thankfully, some incredibly kind people stopped to help and took him to hospital.”
Kass has since continued his journey. The fundraiser has raised £4,940 towards its £5,000 target. The money will help pay for Bobby’s care and additional needs, including specialist support and equipment. It will also fund activities and experiences to make his life as “fulfilling and joyful” as possible.
