Parents’ hope for twins after ‘groundbreaking’ discoveries in rare condition
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As the parents of 11-year-old twins with a rare condition called Fragile X, milestones like Christmas bring foreboding as well as celebration.
Harry Simpson and Julie Lalou lose sleep over whether Oscar and Freddie Simpson will take any of the steps, such as going to university or the first day at a new job, that most families take for granted.
The twins are affected by a genetic disorder where a single gene in the X chromosome shuts down, affecting the development of the brain.
The syndrome comes with a range of associated conditions such as autism, speech delay, attention deficit and anxiety, and physical signs such as long face, prominent ears and flat feet.
Diagnosed at the age of three, the ‘incredibly sweet and loving boys’ are otherwise well-rounded individuals, but their parents know they face missing out on independent lives.
Harry spoke as FRAXA, the world-leading Fragile X research foundation, raised the prospect that ‘real hope’ is on the horizon for a cure.
‘What keeps us up at night is worrying about the path they will take in life.’ he says. ‘For most children their age the next steps are about doing their exams, going to university and finding a career.
‘We don’t have that luxury, we worry about what will happen when we’re not around and will not be here to look after them.
‘A cure where their brains are able to develop like neurotypical children of their age would give them the opportunity to live an independent life, and to follow their own path wherever it may take them.’
Harry, 39, and Julie 42, first noticed that something was amiss as the twins missed milestones in walking, fine motor skills and speech, as they hardly spoke at the time. After they discovered that Oscar had a foot deformity, the boys ended up both being referred to Great Ormond Street Hospital and they were diagnosed with Fragile X in 2015.
‘In people who have Fragile X syndrome the FMR1 gene, which makes a protein for normal brain development, is switched off,’ explains Julie, who runs dog grooming businesses across London.
‘FRAXA is working hard to produce a cure which will switch this gene back on. Last year the charity made some groundbreaking discoveries, which has given us some hope for the not-too-distant future.’
The parents responded to the diagnoses by setting out to learn everything they could about Fragile X, which affects around one in between 2,500 and 4,000 males and one in between 7,000 and 8,000 females.
The couple flew to the US for answers and their research helped their boys, who have the associated condition of autism, stay in mainstream school until two years ago when they moved to specialist provision.
‘It was a stressful time but we jumped into researching Fragile X with both feet, trying to find out as much as we could,’ says Harry, a director at a risk management broker.
‘We consulted one of the best specialists in the world in the US and looked into the best methods for teaching and tutoring, which pretty much bankrupted us.’
While being bound by the condition, the twins have distinct personalities ensuring for a busy life at the family’s home in Chiswick, West London.
‘Freddie is ultra into boxing and WWE and loves sport and comes to Chelsea with me and plays in an FA special needs football league,’ Harry says.
‘Oscar is very artistic, he loves drawing and going to shows with his mum.
‘His favourite colour’s pink and if you asked him what he wanted for Christmas it would be make-up and things like that.
‘They are super-different but incredibly sweet and loving, even if Oscar finds it harder to show love.’
‘After 30 years, we have real hope’
FRAXA is running what it has described as a ‘massive engineering project’ as it searches for breakthroughs and has said: ‘The cure for Fragile X isn’t a pipe dream, it’s a process, and we are right in the thick of it.’
Katie Clapp, president, co-founder, and Fragile X parent, told Metro.co.uk: ‘As the mother of Andy, a young man with Fragile X syndrome, I have never been more excited about the prospects of changing his future.
‘Right now, four different research teams funded by FRAXA Research Foundation have discovered separate treatment approaches that tackle the root cause of Fragile X: a single missing protein.
‘Each of these teams, at Harvard Medical School, Carnegie Mellon University, the University of Calgary and the University of Massachusetts, is forging ahead with the goal of finding a Fragile X cure.
‘In the meantime, Andy is speaking and thinking more clearly after three months on an investigational new drug.
‘This medicine, zatolmilast, is currently in large-scale phase three trials to treat the cognitive delay caused by Fragile X.
‘After 30 years and 35 million dollars of FRAXA research funding, we are seeing discoveries that give us real hope for our children.’
Harry and Julie are supporting the drive as they make Christmas as memorable as they can for their boys and three-year-old daughter, Violet.
They have decked out their front garden in an illuminated Winter Wonderland theme in a JustGiving fundraiser for FRAXA that has the social media handle @christmasonparkroad.
‘For us and other parents a breakthrough can’t come soon enough,’ Harry says. ‘But with the way the research is progressing it might come about when the boys are between 16 and 20.
‘We look forward to the day when they can follow their many interests without us having sleepless nights.’
To visit the JustGiving page click here
MORE : Teen told ‘autistic people can’t be doctors’ on way to medical school
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