Mother, 38, puts her two-year-old son on a strict low-carb, no-sugar diet because of a genetic condition that makes him constantly hungry
- Kirsty Milbanhac noticed her son Reggie was ‘floppy’ when he was born in 2017
- After months of tests, was diagnosed with Prader-Willi Syndrome the next year
- Condition causes him to have low muscle tone, meaning he still cannot walk
A mother has been forced to put her two-year-old son on a low-carb, no-sugar diet after a genetic condition has left him constantly hungry.
Kirsty Milbanhac, 38, knew something was wrong when her son Reggie appeared ‘floppy’ after she gave birth on July 6, 2017.
With doctors baffled as to what was wrong, Mrs Milbanhac even ‘planned her son’s funeral in her head’.
Reggie, of Raynes Park, south west London, spent months in and out of hospital when a common cold would leave him struggling to breathe and dependent on a ventilator.
Finally, in February last year, tests revealed the youngster has the genetic disorder Prader-Willi syndrome (PWS).
As well as causing an insatiable appetite, PWS also results in patients having low muscle tone, which means Reggie is still unable to walk.
He also battles delayed speech, an inability to feel pain and behavioural problems that ‘go beyond normal toddler tantrums’.
Reggie Milbanhac (left) is on a low-carb, no-sugar diet after a genetic condition has left him constantly hungry. The toddler spent the first months of his life in and out of hospital (seen right) as doctors battled to uncover what was causing his low muscle tone
The youngster (left) was eventually diagnosed with Prader-Willi Syndrome, which causes patients to endure an insatiable appetite. His mother Kirsty made the decision to restrict his diet for his own good. She is pictured with her husband Jimmy and eldest son Max, four
Speaking of the ordeal, Mrs Milbanhac said: ‘One of the biggest struggles is restricting his diet. Food can’t be seen as a reward; there’s no treating him to chocolate or sweets.
‘Reggie follows a really strict low-carb, high-protein, no-sugar diet. I wanted to start it now, so he grows up not knowing any different.
‘He’s never had things like white bread or pasta, so he doesn’t know to miss them.
‘It’s hard to say no when he asks for more food, but we just can’t give in, otherwise where does it stop?’
Mrs Milbanhac, who is also mother to four-year-old Max with her husband Jimmy, 36, had a healthy pregnancy until two weeks before her due date.
Doctors noticed her bump was not growing as it should and booked her in for a scan.
The results showed her unborn child was far smaller than expected. This left doctors concerned her placenta may not be working properly and recommended she be induced.
‘I’d had a small bump with Max and he was perfectly healthy, so I figured I just carried small babies,’ Mrs Milbanhac said.
‘I thought it was a fairly routine appointment, then suddenly I was being told I’d need to have my baby as soon as possible.
‘I went home that night, which was a Friday, to digest it all, then admitted myself to be induced on the Monday.’
As a newborn (left), Reggie was ‘floppy’ and struggled to latch on when he fed. He spent two weeks on a neonatal ward before finally being allowed home. Now diagnosed, the toddler’s low muscle tone means he cannot walk and requires physio sessions (right) to build up his strength
Reggie was taken to a neonatal clinic (seen left) the day after he was born when his blood-sugar levels dropped. He had an MRI scan just days later. Mrs Milbanhac (pictured right with her newborn son) knew things were not ‘normal’ the first time she held Reggie
Mrs Milbanhac, who works for a TV company, was induced as planned at London’s Kingston Hospital.
However, her labour progressed slowly, with Reggie being born four days later on July 6, weighing 4lb 10oz.
‘I hate this word, but I could see right away that things weren’t “normal”,’ Mrs Milbanhac said.
WHAT IS PRADER-WILLI SYNDROME?
Prader-Willi syndrome is a rare genetic condition that causes problems including constant urges to eat food, restricted growth and reduced muscle tone.
Other potential issues include learning difficulties, lack of sexual development and behavioral problems such as tantrums or stubbornness.
The rare condition, which affects one in every 15,000 children born in England, is caused by a defect on chromosome number 15 – and happens by chance.
Because there is no cure, treatment aims to manage the symptoms – with parents of sufferers urged to get their children to stick to a healthy, balanced diet.
Children with the syndrome can eat up to six times more than children of the same age – and still feel hungry.
It was first described in 1956 by Swiss doctors A Prader, A Labhart and H Willi.
‘Reggie had no muscle tone, he was really floppy. He was also really struggling to latch on and feed.’
When his blood-sugar levels began to drop the next morning, Reggie was taken to the neonatal unit.
He stayed on the ward for two weeks while doctors battled to uncover what was causing his symptoms.
Reggie even had an MRI scan at just a few days old.
‘When I was told Reggie was being kept in hospital, I just broke down,’ Mrs Milbanhac said.
‘To have no idea what’s wrong with your child is just terrifying.’
Eventually, Reggie was allowed to go home, but was still without a diagnosis.
Over the next few months, he was seen by various specialists, who tested for everything from cerebral palsy to spinal muscular atrophy.
‘I was basically planning my son’s funeral in my head,’ Mrs Milbanhac said.
‘I was terrified doctors would tell us he had something that meant he only had a few years with us.
‘While all this was going on, he was still so floppy he could barely move. All he did was sleep and he made no noise.
‘We’d be in hospital in the premature baby unit waiting for appointments, surrounded by crying, screaming babies but he’d just be silent.’
Reggie’s weak muscle tone meant he barely had the strength to cough, which caused him to develop severe complications every time he had a cold.
On one occasion, the youngster even had to be hooked up to a ventilator.
Reggie (left), who struggles to walk or stand, also suffers from delayed speech, temperature sensitivity and an inability to feel pain. He is pictured right with his brother Max
Pictured left as a newborn, doctors had ‘no idea what was wrong’ for months. Now two (right), Reggie is already showing signs of behavioural problems, which is a symptom of the disorder
Pictured as a baby with his brother, Mrs Milbanhac is determined Reggie has a ‘normal’ life
During a routine hospital visit in early 2018, a doctor mentioned PWS in passing, asking Mrs Milbanhac if Reggie had been tested for it.
‘At that point, I wasn’t sure what he had and hadn’t been tested for,’ she said. ‘It’s difficult when you don’t know what it is that consultants are looking for.
‘We were due to see the genetics team a couple of weeks later and they mentioned the condition too, and said they were going to dig a little deeper with tests.’
Reggie was officially diagnosed with PWS that February.
According to the Foundation for Prader-Willi Research, the condition can occur when part of chromosome 15 is missing due to a mutation.
Reggie, however, inherited two chromosome 15s from his mother and none from his father.
Speaking of his diagnosis, Mrs Milbanhac said: ‘On one hand, it was a relief to finally know what was happening particularly as we’d been given much bleaker possibilities before.
‘I had time to properly research and get my head round it, so it wasn’t this huge bombshell, like if he’d been born, then we got the news a few days later.
‘In time though, I began to think more and more about how life will be different for him.’
Reggie (pictured left as a baby) developed complications every time he had a cold due to his low muscle tone stopping him from clearing his throat. On one occasion, he had to be hooked up to a ventilator. Seen right at physio, he will shortly go on a three-week intensive course
Reggie, who has delayed speech, undergoes regular physiotherapy sessions to help build up his strength so he can one day walk.
Mrs Milbanhac has also noticed signs of behavioural problems, which is associated with PWS.
‘We aren’t quite in the thick of it yet as Reggie is still so young, but he has these meltdowns that seem to go beyond normal toddler tantrums,’ she said. ‘The only thing we can do is let him calm down.
‘I can’t be sure yet if it’s related to the PWS. Every PWS patient is different and there may be certain symptoms that suddenly hit as Reggie grows older.
‘I know the disparity between where he is developmentally and where other children his age are may increase as he gets older too. It really is just a case of wait and see right now.’
For now, the most difficult part is managing her son’s diet. ‘I’ve had to get my head around a lot of information about nutrition,’ Mrs Milbanhac said.
‘People aren’t always aware of what’s in their food, but that isn’t an option for us.
‘Reggie, who is also on growth hormone treatment as PWS affects his stature, basically follows the healthiest diet you can imagine.
‘I don’t want him to feel like he never gets treats, so I try to get around it by giving him alternatives, like avocado ice lollies that have no sugar in.’
On top of his excessive eating habits, Reggie’s PWS also causes him to be unable to control his temperature or feel pain.
‘His temperature can be tricky, as his body can’t naturally heat or cool itself as well as other people’s,’ Mrs Milbanhac said. ‘His lips go blue very quickly when he’s cold.
‘As with many children with PWS, he can’t feel pain that well either. On one hand, that meant teething was a breeze but I do worry about the dangers, as he might not feel it if he really hurts himself.’
As an ill newborn (left), Mrs Milbanhac ‘planned Reggie’s funeral in her head’. The youngster is pictured right during a tender moment with his big brother
Although Mrs Milbanhac struggled to accept her son’s condition, she is determined for him to have the best life possible.
‘It is difficult as his mum knowing that, right now, an independent life will be difficult for him,’ she said.
‘He will require constant care and, as a free-spirited parent who has always travelled and wanted that for my children, that was a hard hurdle to get over.
‘But this is the only life Reggie has ever known, so I am determined to make it as happy as possible.’
Mrs Milbanhac was initially raising £3,500 ($4,237) for Reggie to go on a three-week course that will give him access to specialists who may help him walk.
With the fundraising target being hit, the excess cash will be split between the Foundation for Prader-Willi Research and the charity Prader-Willi Syndrome UK.
‘We’d love the extra money raised by GoFundMe to go towards research and maybe even one day finding a cure,’ Mrs Milbanhac said.
‘When you look at how far medical breakthroughs come all the time, you have to wonder where we’ll be in five or 10 years from now.
‘A cure may not be close but, hopefully, more research will at least help manage aspects of Reggie’s condition, like the behavioural issues and overeating.
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