Mum wants son with childhood dementia to 'experience life'

A mum has said she wants her five-year-old son to "experience life as much as he can" after he was diagnosed with a rare neurodegenerative condition that has no cure.

Sophie, from Blackpool, said Bobby has MPS Sanfilippo Syndrome, often called "childhood Alzheimer's" or "childhood dementia."

The 35-year-old said Bobby was diagnosed after a visit to the speech and language therapy team because of a delay in his speech development, which led to a further referral for hearing examinations.

"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," she said.

Sanfilippo Syndrome Type A, also known as Mucopolysaccharidosis type III (MPS III), causes the gradual loss of abilities, such as walking and eating.

Sophie, who works at Blackpool Teaching Hospital Trust, said an audiology consultant noticed Bobby had some facial features indicative of the condition.

"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 said.

"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 specialties and one person pulling it all together the condition in Bobby might have been missed."

Sophie said the family's priority was to make sure Bobby now "gets the most out of his short life".

"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."

Sophie's dad Alan - with whom Bobby had "an incredibly special bond" - died unexpectedly in March.

"Bobby absolutely idolised his grandad," she said.

"He was his world, his safe place, his hero".

Alan's best friend is part-way through an "absolutely mammoth challenge" walking from Brighton to Blackpool to raise money for Bobby and help raise awareness of MPS Sanfilippo.

Andreas Tzannes-Kastritis, known as Kass, set off on 28 September and is averaging about 15 miles a day, hoping to arrive at the finish line at Blackpool Tower on 24 October.

"It is an incredible undertaking, both physically and emotionally, and he is doing it with my dad very much in his heart and Bobby as his motivation," Sophie said.

"His feet are blistering so he's mindful not to over do it.

"But his spirit is keeping up and he's encouraged by everyone's kind words and generosity.

"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."

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