Adorable girl aged just three struck down by 'childhood Alzheimer's'
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.
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Scottish Sun
3 hours ago
- Scottish Sun
I'm slowly losing my brilliant Dad to dementia – but now I'm tormented by a fear his demise could've been easily avoided
Click to share on X/Twitter (Opens in new window) Click to share on Facebook (Opens in new window) WATCHING my dad Mick cry sitting on the bottom stair when I was 11 years old in 1990 is a memory I can recall far too easily. Confused, I asked my mum Irene what was going on. I was told he was on new antidepressants and it would take some time for him to get used to the dose. 14 Clare O'Reilly and her dad Mick on one of their many family holidays Credit: Collect 14 Clare, her mum Irene and dad Mick, and children in 2019, before he was diagnosed with dementia I knew what depression was, I'd read about it in magazines, but it was the first time I was told my beloved dad – who was just 43 at the time – had it. It's been 35 years since that memory. But every single one of those days since he's taken medication, which has chemically levelled out his poor mental health. When he was diagnosed with Alzheimer's and dementia in 2020, the memory of hearing his sobbing didn't even register – until a few weeks ago. New research brought it screaming back into my mind. A study from the University of Nottingham, published last month, suggested having depression in midlife could increase the risk of Alzheimer's by as much as 56 per cent. My wonderful dad is one of about a million people in the UK living with dementia - a figure that's set to rise to 1.4million people by 2040. According to the charity Alzheimer's UK, depression is one of 14 modifiable and potentially preventable risk factors of the condition, so what if the depression I watched him live with throughout my childhood has contributed to or even caused the diagnosis which ultimately will end his life? Professor Jacob Brain, from the Institute of Mental Health and School of Medicine at the University of Nottingham who led the research, says the findings from the study need to be acted upon. 'Our study shows depression is linked to an increased risk of dementia in both midlife and late life,' he says. 'This highlights the importance of recognising and treating depression across the life course, not just for mental health, but also as part of a broader strategy to protect brain health. 'Public health efforts need to place greater emphasis on preventative brain health, including scaling up access to effective mental health care.' Five simple tests that could indicate dementia Around 2.5million people took part in the study, which concluded that feelings like my dad had in midlife – specifically in your 40s and 50s - more than doubled the risk of developing the condition. And with dementia costing the UK £42billion today, rising to £90billion by 2040, there's an urgency to treat midlife mental health to potentially reduce both the diagnosis statistics and the cost of dementia to the already struggling NHS. My dad doesn't know anything about the link between the two conditions, but it's all I can think about. While talking therapies were in their infancy back in the 90s, his midlife mental health and diagnosis could be inextricably connected. After crying on the stairs, his new dosage kicked in and he bounced back to the father I adored, who I used to make bread with and play chess with. Yet while clinical psychology has been in existence since the 1890s, it's only after his dementia diagnosis five years ago he was offered a psychologist to talk to. Until that time, his only help was a pill. It leaves me wondering whether his dementia would have occurred had his depression been treated and cured, rather than medicated for decades – and that's something I'll never have an answer to. I dread not knowing my grandchildren's names when I see them. I can't imagine the hurt they'll feel when that day comes and that's heartbreaking Mick O'Reilly Dementia is considered a terminal illness because it's degenerative and there's no cure. On average, life expectancy is between five and 10 years after diagnosis, and my amazing, funny, kind, smart and wonderful dad is halfway through that timeline. When he was diagnosed, under mum's advice, he wrote letters to both my brother Michael and I, as well as his four grandchildren, to be opened when he's not around anymore. The bomb blast of his diagnosis in our tight knit family was, and continues to be, devastating. My three children Eddie, 21, Sammy, 16, and Annie, 14, all cried on hearing the news. 14 Clare described her dad's diagnosis as a 'bomb blast' Credit: Collect 14 Clare and her family at the airport on the way to France 14 Clare's mum Irene confirmed Mick's diagnosis in 2020 14 Writing in 2020, Mick said it was hard to admit it, but he was 'terrified' Credit: Collect Watching him forget simple words like 'pasta' or struggling to recall what a sofa is called has been challenging at best and devastating at worst. His passion for poetry and art is dwindling as his confusion mounts and his thousand-yard stare becomes something we grow accustomed to. But given the fact that around 13 per cent of people over the age of 65 suffer from depression, our family can't be the only ones living with a dementia diagnosis after midlife depression, which was left treated but not cured in the 1980s and 1990s. 'It's hard to admit it, but I'm terrified' By Mick O'Reilly, written in November 2020 after being diagnosed IN my heart I knew I had something wrong with me before it was diagnosed as dementia and Alzheimer's. For the last two years when I've woken in the night I don't know where I am and it takes a few seconds, sometimes a minute or two, to remember I'm at home. Despite living here for 36 years, if I'm out with my wife, Irene, I forget what the front of the house looks like. I've grown familiar with those feelings, that uncertainty, but labelling them – while it felt like being hit with a brick – was a relief. I'd worried it was a brain tumour and while people might think I'm mad to prefer this diagnosis to a brain tumour, it's just how I feel. It's hard to admit I'm frightened but I am. I'm terrified. I've had almost 50 years of marriage with Irene and we've raised a family – while those memories will go for me, she has plenty that will last her. The same with my children Michael and Clare; we've had holidays to Barry Island, Prestatyn and Scarborough with fish and chips and pickled cockles on the beach. We've had plenty of Christmases and birthdays together. I've watched them graduate from university and have their own children, but it's my four grandchildren I'm most saddened for. I've only had six years with my youngest grandchild, Michael, and whatever memories we make together will have to last him forever and they might fade for him as he grows up. I know I won't be present when it happens but I dread not knowing their names when I see them. I can't imagine the hurt they'll feel when that day comes and that's heartbreaking. Having had epilepsy for 41 years and thousands of seizures, many of which I had no idea were coming, I'm familiar with uncertainty, with not knowing what will happen next. But I do know this diagnosis isn't going anywhere and I have to accept that. I'm reminded of it every time I watch The Chase. I used to be able to get a few questions right, now I'm very lucky if I get one. Despite staring down the barrel of an abyss though, I don't feel sorry for myself. Why would I? I'll be ignorant in bliss, it's the family I love who'll have the hardship, not me. I feel guilty they'll have to endure the hurt that comes with this diagnosis – with being forgotten – but I'm helpless to prevent it. I'm not scared either, we all have to go some time and I've had a life far richer than a lot of people. I know Clare says at my essence I'm a decent bloke and will still be that even when I'm not anchored by my history or a past or family I've forgotten, but I can't help but wonder who I'll be when I've forgotten myself. The new research brings together existing evidence, but also adds fresh analysis to examine the relationship between the two conditions in more detail. 'Our findings raise the possibility that depression late in life may not just be a risk factor, but it could also be an early warning sign of dementia beginning to develop,' says Mr Brain. 'By clarifying this timing, our work helps guide future research, treatment, and prevention strategies. 'We specifically focused on the timing of when depression was measured, whether it was measured in midlife or in later life, and calculated how much it increased the risk of developing dementia. 'This essentially allowed us to provide a more accurate and up-to-date picture of how depression at different life stages is linked to dementia risk.' 'Bitter pill to swallow' While Alzheimer's UK says depression is a risk factor that can be attributed to three per cent of dementia cases, around 13 per cent of people over the age of 65 suffer from the condition, and my dad is one of them. With the publication of the findings from the University of Nottingham, Alzheimer's UK is calling on the UK Government and NHS to set ambitious and achievable new diagnosis rate targets. Dr Richard Oakley, associate director of research and innovation at Alzheimer's Society, says even more research will help establish the correlation and relationship between the two conditions. 'The relationship between depression and dementia is a complicated topic,' he says. 'While there is a connection, the association is still unclear, and we don't fully understand the specific changes that link these two conditions. 'We know that depression is a risk factor for dementia and some research suggests treating depression may reduce the risk of developing dementia in the future. 'This is why getting the right support for depression is important.' 14 Clare with her dad Mick on her first Christmas 14 It has been 35 years since Clare discovered her dad had depression Credit: Collect 14 She now wonders if it had anything to do with his dementia diagnosis Credit: Collect 14 Mick playing a game of chess in 2011 It's too late for my dad to get the help that might have changed his diagnosis. There's a possibility he would have been diagnosed anyway but – like his antidepressants in the 1990s – it's a bitter pill to swallow. He still takes the 'happy pills' as he used to call them. And while there are glimpses of the dad who I grew up adoring, they're becoming fewer and further apart. I was too little to do anything back in 1990; his wonderful GP unaware of the link and his devoted wife – my mum – couldn't have known either. I do know there'll be an equivalent 'me' though – kids across the UK are living with parents with depression in their midlives. So for the sake of their adult selves, I hope the research findings are acted upon before another generation has to watch a parent they adore disappear in front of their eyes. 14 Mick wrote letters to this two children and four grandchildren, to be opened when he's not around anymore Credit: Collect 14 Mick and little Eddie at home in 2007 14 Mick still takes 'happy pills', as he used to call them Credit: Collect
The Sun
3 hours ago
- The Sun
I'm slowly losing my brilliant Dad to dementia – but now I'm tormented by a fear his demise could've been easily avoided
WATCHING my dad Mick cry sitting on the bottom stair when I was 11 years old in 1990 is a memory I can recall far too easily. Confused, I asked my mum Irene what was going on. I was told he was on new antidepressants and it would take some time for him to get used to the dose. 14 14 I knew what depression was, I'd read about it in magazines, but it was the first time I was told my beloved dad – who was just 43 at the time – had it. It's been 35 years since that memory. But every single one of those days since he's taken medication, which has chemically levelled out his poor mental health. When he was diagnosed with Alzheimer's and dementia in 2020, the memory of hearing his sobbing didn't even register – until a few weeks ago. New research brought it screaming back into my mind. A study from the University of Nottingham, published last month, suggested having depression in midlife could increase the risk of Alzheimer's by as much as 56 per cent. My wonderful dad is one of about a million people in the UK living with dementia - a figure that's set to rise to 1.4million people by 2040. According to the charity Alzheimer's UK, depression is one of 14 modifiable and potentially preventable risk factors of the condition, so what if the depression I watched him live with throughout my childhood has contributed to or even caused the diagnosis which ultimately will end his life? Professor Jacob Brain, from the Institute of Mental Health and School of Medicine at the University of Nottingham who led the research, says the findings from the study need to be acted upon. 'Our study shows depression is linked to an increased risk of dementia in both midlife and late life,' he says. 'This highlights the importance of recognising and treating depression across the life course, not just for mental health, but also as part of a broader strategy to protect brain health. 'Public health efforts need to place greater emphasis on preventative brain health, including scaling up access to effective mental health care.' Around 2.5million people took part in the study, which concluded that feelings like my dad had in midlife – specifically in your 40s and 50s - more than doubled the risk of developing the condition. And with dementia costing the UK £42billion today, rising to £90billion by 2040, there's an urgency to treat midlife mental health to potentially reduce both the diagnosis statistics and the cost of dementia to the already struggling NHS. My dad doesn't know anything about the link between the two conditions, but it's all I can think about. While talking therapies were in their infancy back in the 90s, his midlife mental health and diagnosis could be inextricably connected. After crying on the stairs, his new dosage kicked in and he bounced back to the father I adored, who I used to make bread with and play chess with. Yet while clinical psychology has been in existence since the 1890s, it's only after his dementia diagnosis five years ago he was offered a psychologist to talk to. Until that time, his only help was a pill. It leaves me wondering whether his dementia would have occurred had his depression been treated and cured, rather than medicated for decades – and that's something I'll never have an answer to. I dread not knowing my grandchildren's names when I see them. I can't imagine the hurt they'll feel when that day comes and that's heartbreaking Mick O'ReillyDad Dementia is considered a terminal illness because it's degenerative and there's no cure. On average, life expectancy is between five and 10 years after diagnosis, and my amazing, funny, kind, smart and wonderful dad is halfway through that timeline. When he was diagnosed, under mum's advice, he wrote letters to both my brother Michael and I, as well as his four grandchildren, to be opened when he's not around anymore. The bomb blast of his diagnosis in our tight knit family was, and continues to be, devastating. My three children Eddie, 21, Sammy, 16, and Annie, 14, all cried on hearing the news. 14 14 14 14 Watching him forget simple words like 'pasta' or struggling to recall what a sofa is called has been challenging at best and devastating at worst. His passion for poetry and art is dwindling as his confusion mounts and his thousand-yard stare becomes something we grow accustomed to. But given the fact that around 13 per cent of people over the age of 65 suffer from depression, our family can't be the only ones living with a dementia diagnosis after midlife depression, which was left treated but not cured in the 1980s and 1990s. 'It's hard to admit it, but I'm terrified' By Mick O'Reilly, written in November 2020 after being diagnosed IN my heart I knew I had something wrong with me before it was diagnosed as dementia and Alzheimer's. For the last two years when I've woken in the night I don't know where I am and it takes a few seconds, sometimes a minute or two, to remember I'm at home. Despite living here for 36 years, if I'm out with my wife, Irene, I forget what the front of the house looks like. I've grown familiar with those feelings, that uncertainty, but labelling them – while it felt like being hit with a brick – was a relief. I'd worried it was a brain tumour and while people might think I'm mad to prefer this diagnosis to a brain tumour, it's just how I feel. It's hard to admit I'm frightened but I am. I'm terrified. I've had almost 50 years of marriage with Irene and we've raised a family – while those memories will go for me, she has plenty that will last her. The same with my children Michael and Clare; we've had holidays to Barry Island, Prestatyn and Scarborough with fish and chips and pickled cockles on the beach. We've had plenty of Christmases and birthdays together. I've watched them graduate from university and have their own children, but it's my four grandchildren I'm most saddened for. I've only had six years with my youngest grandchild, Michael, and whatever memories we make together will have to last him forever and they might fade for him as he grows up. I know I won't be present when it happens but I dread not knowing their names when I see them. I can't imagine the hurt they'll feel when that day comes and that's heartbreaking. Having had epilepsy for 41 years and thousands of seizures, many of which I had no idea were coming, I'm familiar with uncertainty, with not knowing what will happen next. But I do know this diagnosis isn't going anywhere and I have to accept that. I'm reminded of it every time I watch The Chase. I used to be able to get a few questions right, now I'm very lucky if I get one. Despite staring down the barrel of an abyss though, I don't feel sorry for myself. Why would I? I'll be ignorant in bliss, it's the family I love who'll have the hardship, not me. I feel guilty they'll have to endure the hurt that comes with this diagnosis – with being forgotten – but I'm helpless to prevent it. I'm not scared either, we all have to go some time and I've had a life far richer than a lot of people. I know Clare says at my essence I'm a decent bloke and will still be that even when I'm not anchored by my history or a past or family I've forgotten, but I can't help but wonder who I'll be when I've forgotten myself. The new research brings together existing evidence, but also adds fresh analysis to examine the relationship between the two conditions in more detail. 'Our findings raise the possibility that depression late in life may not just be a risk factor, but it could also be an early warning sign of dementia beginning to develop,' says Mr Brain. 'By clarifying this timing, our work helps guide future research, treatment, and prevention strategies. 'We specifically focused on the timing of when depression was measured, whether it was measured in midlife or in later life, and calculated how much it increased the risk of developing dementia. 'This essentially allowed us to provide a more accurate and up-to-date picture of how depression at different life stages is linked to dementia risk.' 'Bitter pill to swallow' While Alzheimer's UK says depression is a risk factor that can be attributed to three per cent of dementia cases, around 13 per cent of people over the age of 65 suffer from the condition, and my dad is one of them. With the publication of the findings from the University of Nottingham, Alzheimer's UK is calling on the UK Government and NHS to set ambitious and achievable new diagnosis rate targets. Dr Richard Oakley, associate director of research and innovation at Alzheimer's Society, says even more research will help establish the correlation and relationship between the two conditions. 'The relationship between depression and dementia is a complicated topic,' he says. 'While there is a connection, the association is still unclear, and we don't fully understand the specific changes that link these two conditions. 'We know that depression is a risk factor for dementia and some research suggests treating depression may reduce the risk of developing dementia in the future. 'This is why getting the right support for depression is important.' 14 14 14 It's too late for my dad to get the help that might have changed his diagnosis. There's a possibility he would have been diagnosed anyway but – like his antidepressants in the 1990s – it's a bitter pill to swallow. He still takes the 'happy pills' as he used to call them. And while there are glimpses of the dad who I grew up adoring, they're becoming fewer and further apart. I was too little to do anything back in 1990; his wonderful GP unaware of the link and his devoted wife – my mum – couldn't have known either. I do know there'll be an equivalent 'me' though – kids across the UK are living with parents with depression in their midlives. So for the sake of their adult selves, I hope the research findings are acted upon before another generation has to watch a parent they adore disappear in front of their eyes. 14 14 14 14
Evening Standard
a day ago
- Evening Standard
Every baby in UK to have DNA mapped under NHS ‘genomics revolution'
Parents would be asked to give consent for the tests, but some children may grow up with knowledge of their genetic risk of diseases such as Alzheimer's or aggressive cancers. A recent study of 7,000 babies found 27 carrying the BRCA1 'Jolie gene', which is linked to a sharply increased risk of breast cancer.
