Hansard

I, too, thank Fulton MacGregor for bringing the debate to the chamber, and I welcome the guests in the public gallery. I also thank the people who came to the Parliament—I think that it was last week or the week before—to update us on this important issue.

As other members have said, PKU is a rare but treatable inherited disorder that prevents the normal breakdown of the amino acid phenylalanine, which is a natural component of protein. That results in build-up in the blood and the brain. As other members have said, the condition is managed through a specialist diet that avoids foods that are very high in protein, such as meat and dairy. As Fulton MacGregor indicated, however, that is immensely complex.

Delays in treatment can cause long-term health problems, which is why early diagnosis is crucial. However, the complexity of the PKU diet—as we have heard—means that people have a really restricted intake of food and quite a different life when it comes to the things that we all take for granted. It is the human element in all this that we are discussing today: what impact does that have on people’s lives?

Members will know that, many years ago, I worked as a dietician in the NHS. I have heard other members talk about the role of dieticians, and people who have contacted me have highlighted that important role. During my time as a dietician, I supported a small number of people with PKU and their families. At that time, not only was the dietary regime very restrictive—I remember that—but the amino acid substitute was very difficult to take. That experience really gave me a feeling for how one’s family life can be changed by just one event.

Having a family member with PKU means that people think about and look at food in a very different way. Their daily timetable changes, and the things that they enjoy change. That is why families are so concerned to ensure that modern treatments are available for their loved ones to use.

I will talk about the experiences of a mum who reached out to me ahead of the debate. She has two sons who were diagnosed with PKU as newborns and began receiving sapropterin after it was approved in 2022. I will check the Official Report to ensure that the correct drug is there, spelled correctly, because—as we know—a lot of the medications have similar-sounding names.

Following successful treatment, their daily protein tolerance increased from 10g to 28g, before increasing to 38g and 39g respectively. Their mum had to talk to the medics about increasing that further. I will try to give members some perspective on what grams of protein actually mean. When the boys were on 38g and 39g of protein, they could eat only some vegan diets, and dairy-free and gluten-free products, and they still took about 150 tablets a day.

Now, they have managed to increase their tolerance, by using the drug, to 68g and 72g of protein respectively. That has given them real freedom, and they are now on only 36 tablets a day. It is truly remarkable to hear about treatments that make such a difference and about how much people’s lives have changed since the drug was assessed and approved.

However, I make the point that the journey to that stage was by no means easy. Their mum had to fight hard for treatment—she knew that it was readily available in other parts of the UK and in Europe. Her experience was that the guidelines and best practice were not easy to navigate or consistent for people and families.

Scottish patients appear to be getting treated differently, and mums who have had the kind of positive experience that I just described want other families to get that benefit. That experience is probably not unique, and it is an important example of why we have to hear from the minister whether she can look into the matter and ensure that patients in Scotland receive more equitable treatment.