A mother has opened up on her heart-wrenching experience with her daughter’s rare condition, Prader-Willi syndrome, which leaves the child feeling perpetually “starving”. Min Kaur, 45, discovered her one-year-old daughter Sophia’s diagnosis in January 2024 following episodes where the toddler would lose consciousness and become limp.
The genetic disorder is characterised by a host of physical symptoms, learning difficulties and behavioural issues, including stunted growth, muscle weakness and an insatiable hunger that can lead to life-threatening obesity. Although Sophia currently has “normal” eating patterns and seems to recognise when she’s full, her dietician has warned Min that overeating could begin from age two.
Min, a single mother and former support worker from Newcastle, Tyne and Wear, who now dedicates herself to caring for Sophia, 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.”
She added: “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.”
The medical team has advised that maintaining a healthy weight could extend Sophia’s life, though they cannot specify by how much. Min, conscious of her age, had opted for Down syndrome screening during her 12th week of pregnancy.
She expressed that if there had been a screening available for Prader-Willi syndrome and other genetic disorders, she would have opted for them. The scan results were clear and the plan was for Min to be induced at the Royal Victoria Infirmary in Newcastle on January 12, 2024.
However, when the day came, the medication failed to initiate Min’s contractions, and after a 14-hour delay, she was taken for a caesarean 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 arrived at 2.22am on January 14, 2024, with a birth weight of 6lbs 3oz.
Min immediately noticed that Sophia was silent, very cold and drifting in and out of consciousness. She mentioned that doctors monitored her closely during genetic testing before transferring her to the ICU.
On January 21, 2024, the results of Sophia’s genetic blood test confirmed she had Prader-Willi syndrome. Min added: “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.”
After spending four weeks in intensive care, Sophia was discharged home with Min, who has since had to leave her job to provide full-time care for her daughter.
Sophia attends physiotherapy sessions every Thursday to assist with mastering basic movements such as crawling, though she’s not expected to progress at the same pace. Min said: “Sophia’s doctors say she’ll live longer if she can maintain a healthy weight – they just can’t say how long.”
In addition, a dietician is working alongside her mum, Min, to craft nutritious meal plans for Sophia as she ages.
Min expressed her anticipation of future challenges: “I’m really going to have to be in control of her food as she grows up.”
She also shared her hopes: “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.”
She observed signs of Sophia’s self-regulation: “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 depleted her £5,000 savings on commuting, meals, urgent household repairs and sensory toys for her daughter. With an aspiration to modify her home to accommodate Sophia’s needs, financial constraints have emerged since Min stopped working.
She confessed her reluctance to seek assistance: “I’m not the kind of person to ask for help – and if I could go back to work ASAP, I would. But I’ve come to the point where I have no choice.”
Reflecting on Sophia’s care, she added: “How can I give Sophia the best she deserves if she doesn’t have space?”
Their GoFundMe page can be accessed here: https://www.gofundme.com/f/help-give-sophia-space-to-crawl-and-walk.