Hansard

I, too, congratulate Fulton MacGregor on securing the debate and welcome representatives of the NSPKU who are in the gallery listening to the debate. I also welcome those who are watching at home, because I have constituents in the Highlands who have not been able to make it to the Parliament tonight but who are keen to follow the debate.

In a number of the briefings that we have had, and in some of the contributions from members, PKU has been described as a misunderstood disease. I think that it is worse than that. I completely agree with Rona Mackay; like her, I previously had no knowledge of the condition at all. However, while I say that, I am almost certain that it would have been mentioned to me at least twice in my life, when my boys were born, because the heel-prick test has been in place since 1969. I am almost certain, with Alistair at Dr Gray’s hospital and James at Aberdeen royal infirmary, that I would have asked the doctor and the nurse what that test was for. However, because there was never any follow-up, it must have gone completely out of my mind.

My constituent, in the case that I will discuss tonight, had a similar experience. Her daughter is now five. Her son and then her daughter had the test, and she got a phone call a couple of weeks later to say, “We need to discuss this heel-prick test.” She almost broke down—she thought, “This can’t be good.” The family then had to learn more about PKU, but because it is a rare disease, that was difficult.

I, too, found it difficult to try to work out in my head how we would have managed as a family if one of our children had been diagnosed with PKU, and I find it difficult to see how people manage it on an on-going basis. The reception that Fulton MacGregor hosted in the Parliament in December, which my constituent came down to attend, was excellent, for two reasons. One reason was that we heard direct examples from people who either live with the condition or look after people with PKU, particularly younger children. The second reason was that the table in front of us—I think that it was in committee room 3—had packets of the supplement, which I will come on to in a moment, but also tiny Tupperware boxes containing the amounts of bread, pasta and rice that can be eaten. We could almost count the grains of rice in that box. I had no idea that that was what people had to deal with on a daily basis.

I spoke to some people who control their PKU through taking supplements, and they tried to describe to me the awful taste of them. Imagine having to take that severely unpleasant supplement because of the condition. There is clearly a need for medical advancement. We have had that through a number of drugs, some of which have been mentioned. However, one of the drugs that have recently been introduced, which Rona Mackay spoke about, is not suitable for my constituent’s daughter, who has a gene that means that the drug does not work for her. We need further advancements on drugs.

I want to mention the dietetics team—the dieticians—and the resources there. There is clearly a lack of resources across the country. Like me, the minister represents a rural and remote area. My constituents in Inverness have a link to Raigmore hospital, but the dieticians who deal with PKU in Raigmore stopped face-to-face discussions with individuals and families in 2020, and those have never been restarted. I am interested in hearing from the minister whether she feels that that is acceptable, because the family that I have mentioned have a daughter who is five and who has never seen her dietician face to face. All the discussions and debate that the dietician and the family need to have are done online, and all the information is provided online. There is a place for online consultations, but that should not be the only route.

I would like to see advancements in the drugs that are available. Those drugs will be different for each individual. I would like increased resources for dieticians and others to ensure that families feel supported. If any of us had to go through what the families in the public gallery and those watching at home have had to go through, we would want as much support as close to home as possible. Those living with PKU and their families deserve that, and they deserve it now.