Adorable girl aged just three struck down by 'childhood Alzheimer's'

Daily Mail​

23-04-2025

A Tennessee family has opened up about their young daughter's devastating battle with a rare disorder that has caused her to develop 'childhood Alzheimer's.'
Rowan Begbie, 3, was diagnosed with the terminal memory-robbing condition Sanfilippo syndrome last April.
Sanfilippo syndrome is a rare genetic disorder that has been dubbed 'childhood Alzheimer's' because it causes children to suffer cognitive decline and lose all of the skills they have learned by the time they are teenagers.
There is no cure for the disease, and most of the children die by the time they reach their mid-teens.
Her parents, Bryan and Blair, said the diagnosis was heartbreaking, but their little girl has been brave as she battles the disease.
'She's so full of life. She loves people. She connects with people. She loves her siblings so incredibly much,' the proud parents told WATE. 'She's fearless, which can be a bad thing. Right now, she's just doing so well.'
Rowan was diagnosed after a concerned mother who had come across Rowan's pictures through social media contacted her parents.
'Within minutes of research, it felt like our world had ended because every trait and symptom described our baby girl,' her parents said on their Cure Sanfilippo Foundation page.
Rowan has Sanfilippo syndrome type A, also known as mucopolysaccharidosis (MSP).
'MPS, or mucopolysaccharidosis, is a metabolism disorder where Rowan does not produce the enzyme that breaks down a toxin that builds up in her body, primarily her brain, which leads to behavioral issues, cognitive decline and a number of other unfortunate symptoms,' her parents said.
The family said it has been hard to watch their daughter suffer from the disease and help their other children, Marley and Finn, understand what is happening to their sister, but they are determined to do everything possible to help her.
'Rowan's hyperactivity and fixations are a challenge because it makes her a flight risk. She needs constant supervision to ensure her safety,' they said.
'Her spatial awareness and coordination also create fall problems, which brings bumps, bruises, and scratches on a regular basis.
'The hardest part is knowing Rowan's incredible personality, which we love with all our hearts, will wither away in front of our eyes.'
Rowan's parents described her as a joyous little girl who loves her community and family.
'Rowan gives the best hugs and is always eager to give others pats on the back,' they said.
'She loves to sing 'Wheels on the Bus,' being active outside, and being with her family more than anything.'
The three-year-old is participating in a clinical trial that requires her family to make numerous trips to North Carolina for treatment.
'There's only about 12 kids in the U.S. receiving this specific treatment,' Bryan said. 'We drive there the afternoon before infusions, then we have a full infusion day from 7:00 a.m. to 5:00 p.m. and then we drive home. We couldn't be happier with the team of physicians and nurses that care for her.'
The Begbie family has started a foundation called the Rowan Tree Foundation of East Tennessee to help raise money to find a treatment for Sanfilippo and help other families.
'It's overwhelming, we've seen friends and people from every corner of our lives show up for us over the last year and it's been absolutely amazing,' her parents said.
'We have super generous and talented people that surround us and love us that helped us put today together.'
Sanfilippo affects just 5,000 Americans and causes dementia-like symptoms in children, including the inability to speak, walk, eat on their own or remember any of the skills they've learned throughout their life.
It impacts about one in 70,000 births every year and develops when each parent passes on a faulty gene. Most sufferers begin to deteriorate around four years old and don't live past their early teen years.
In people with Sanfilippo syndrome, they lack an enzyme that breaks down a waste product produced in the body, which leads to their brains becoming 'clogged with toxic levels' of the material, according to the Cure Sanfilippo Foundation.
Signs and symptoms include a mild speech delay, hyperactivity, irritability, coarse and excess hair growth, coarse facial features, severe sleeping problems, respiratory infections, ear infections, digestive issues and a wobbly walk.
As the toxicity levels build in the brain, it can lead to seizures, movement issues and chronic pain, but because of its behavioral symptoms, Sanfilippo is often initially misdiagnosed as ADHD or autism.
There are four subtypes of the condition depending on which enzyme is missing or broken. Across the globe, MPS IIIA is the most common and makes up more than half of the cases.
It is also considered the most severe, causing symptoms and death at earlier ages, according to the foundation.
There is no approved cure for the disease but the Sanfilippo Foundation said research and clinical trials for enzyme replacements are working toward treatments that could potentially slow the progression of the disease and extend a patient's life.