A mum has told of her daughter’s “devastating” rare disorder – which will lead to her feeling permanently “starving”.
Min Kaur, 45, was told her one-year-old daughter, Sophia, suffers from Prader-Willi syndrome in January 2024 after she went in-and-out of consciousness and floppy.
The rare genetic disorder causes a wide range of physical symptoms, learning disabilities and behavioural challenges.
Typical signs of Prader-Willi syndrome include restricted growth, floppiness and an excessive appetite which can easily lead to dangerous weight gain.
While Sophia’s eating habits are currently “normal” and she appears to know when she’s full, her dietician has told Min she may start to overeat from the age of two.
Mum-of-one Min was even informed it may get so severe, she’ll need to put a lock on her fridge.
Former support worker Min, who cares for Sophia full-time, from Newcastle, Tyne and Wear, said: “I don’t know how long Sophia is going to live – at the moment, I’m trying to be as positive as I can.
“I’ve got an excellent care team and I’m learning as I go – I feel prepared to start keeping an eye on her weight within the next few years.
“Sophia’s doctors say she’ll live longer if she can maintain a healthy weight – they just can’t say how long.”
As an older mum, Min decided to get Sophia screened for Down syndrome while she was 12 weeks pregnant.
She says, had a screening been available for Prader-Willi syndrome and other genetic disorders, she would’ve done them, too.
The scan came back clear, and the original plan was for Min to have an induced labour at the Royal Victoria Infirmary, Newcastle, on January 12, 2024.
But when the day arrived, the drugs were unable to start Min’s contractions, and 14 hours later than planned, she was taken for a c-section.
“Sophia just wasn’t coming at all, so they decided to do a c-section,” Min said.
“I was absolutely desperate to get her out and have her here, safe and sound.”
Sophia was born at 2.22am on January 14, 2024, weighing 6lbs 3oz.
Min immediately noticed she wasn’t making any noise, was freezing and would fade in and out of consciousness.
But, she says, doctors kept an eye on her during genetic testing, and she was then taken to the ICU.
On January 21, 2024, Sophia’s genetic blood test came back positive for Prader-Willi syndrome.
Min said: “It was so scary.
“I kept blaming myself – but my care team reassured me I hadn’t done anything to hurt her.
“I didn’t know anything about Prader-Willi at all – of course, I’m more clued up now.
“They say she’ll have a shorter life – and won’t have an off-switch for eating.”
The tot spent four weeks in the intensive care unit, before being discharged back home with Min – who has needed to give up work in order to look after her full-time.
Sophia sees a physiotherapist every Thursday to help learn core movements like crawling – but she isn’t expected to hit her milestones at the same rate as “healthy” babies.
She also has a dietician, who will be helping Min create healthy meal plans for Sophia to stick to as she gets older.
“I’m really going to have to be in control of her food as she grows up,” she said.
“It’s not going to hit her until she’s two years old – as long as she doesn’t get obese, she should be able to live a longer life.
“At the moment, she seems to know when she’s full – she puts her lips together when she doesn’t want to eat any more.
“She’s also a healthy weight.”
While visiting Sophia daily in the ICU, Min spent all of her £5k savings on travel, food, urgent home repairs and sensory toys for the tot.
She hopes to adapt her home to meet Sophia’s needs – but is currently unable to afford the costs after giving up work.
“I’m not the kind of person to ask for help – and if I could go back to work ASAP, I would,” Min said.
“But I’ve come to the point where I have no choice.
“How can I give Sophia the best she deserves if she doesn’t have space?”
Min and Sophia’s GoFundMe can be found here: https://www.gofundme.com/f/help-give-sophia-space-to-crawl-and-walk
