A mum with a rare condition, which limits protein intake to just grams a day, is pleading for access to life-changing medicine.
Claire Briggs, 45, from Midlothian has phenylketonuria (PKU) a rare, inherited metabolic disorder that causes an amino acid called phenylalanine to build up in the body. If left unmanaged, it can lead to brain damage.
For Claire, every mealtime is a planned exercise that requires preparation, precision and a set of scales.
The mum-of-two can only eat 15 grams of protein a day, which she usually equally splits between three meals. She can’t have meat, fish, eggs or cheese – among many everyday foods.
And even a vegetable like broccoli has to be very carefully managed due to its level of protein.
STV NewsHer go-to lunch has precisely calculated portions of broccoli, peas and sweetcorn with PKU-friendly pasta – amounting to around six grams of protein.
“I’m not allowed cheese. So to make it more exciting, I’ve learned to crumble up Quavers and sprinkle it on top instead,” she added.
“It’s very repetitive. Every single meal and snack, I need to think about what I’m putting into my stomach. It could get on top of you very easily. It continues to be a challenge.”
If Claire consumes too much protein, it doesn’t take long to have an impact.
“The next day, I quite often will notice a change in my mood,” she said. “It gets to that point, and I get straight back on the diet because it’s not worth experimenting with. It can impact your behaviour, your mood, and your concentration.
“The long-term harm is what scares PKU people the most. We don’t know what it’s actually doing to our brains.”
STV NewsPKU can now be detected in newborns through the blood screening test and affects around one in every 10,000 births in the UK.
For Claire, and many others like her, strict dietary control is the only way to manage her condition.
“It’s more of a food avoidance regime,” she added.
“As soon as I leave the house, it becomes harder. Going to a restaurant, to work, going for coffee – there’s protein everywhere these days. It’s such a big thing in people’s diets.
“The majority of things are a no-go for PKU people in the supermarket. I reckon I can eat about 2% of things.”
STV NewsA drug called sapropterin has been approved for use in Scotland since 2022, but many patients like Claire are yet to be prescribed the treatment.
She said it would be life-changing for her mental health.
“I hardly dare to dream what it could do,” she said. “It’s frustrating. It’s like the golden chalice – it’s just within reach, but I’ve never quite got my hands on it. I would love to try it and see if it works.”
‘It’s a miraculous drug – it’s changed our lives’
STV NewsCaroline, a trustee for the charity NSPKU, has seen firsthand how effective sapropterin can be.
Her two adult children, who live in England, have been taking it for a few years now.
“It’s changed their lives and my life,” she said. “It makes me emotional; it’s miraculous.”
She said her son felt “completely different” within 48 hours of the drug trial.
“He said it was like someone had turned the light on,” she said. “It was the first time he experienced what ‘normal’ feels like. Everything felt much more colourful.
“He said ‘I don’t feel fatigue, anxiety or stress.'”
Caroline added: “It’s important people know it’s not about lifestyle choices. It’s about looking after people’s brains.”
STV NewsThe Scottish Government says it’s down to individual health boards to consider the implementation of new medicine.
But with the campaign reaching Holyrood, ministers have asked the chief pharmaceutical officer to explore what barriers may be preventing access to sapropterin.
Health minister Jenni Minto confirmed the chief pharmaceutical officer will meet the chair of the medical advisory panel for PKU to discuss the challenges faced by people living with the condition.
“I would like to recognise the experience of individuals and families who live with this rare, lifelong metabolic disorder.
“We’re listening to people’s lived experiences and to working collaboratively with patient groups, the third sector and our respective counterparts across the UK. Their insights are essential in shaping services that truly meet people’s needs.
“I want to ensure that the Scottish Government remains deeply committed to improving outcomes and making a meaningful difference to those who live with PKU and other conditions.”
A Scottish Government spokesperson said: “The Scottish Government is committed to increasing the availability of medicines, including those for rare conditions such as PKU.
“It is for individual Health Boards to consider the implementation of any new medicine, and ultimately for the clinician in charge of a person’s care to advise on suitable treatment options.
“However, the Minister for Public Health and Women’s Health has asked the Chief Pharmaceutical Officer to explore what, if any barriers may be preventing access to sapropterin for those people it is considered a suitable treatment option.”
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