Hansard

I am pleased to speak in support of the motion, and I thank Fulton MacGregor for lodging it. It is about recognising PKU, which is a rare, lifelong metabolic condition that places a significant, and often invisible, burden on those who live with it and on their families.

It is not something that can be managed occasionally or partially—it requires constant attention, from infancy throughout life. Without strict dietary management, the consequences can be severe and irreversible—in particular, they can include neurological damage that affects learning, cognition and mental health. That reality shapes every single day—every meal and every social interaction—for people living with PKU.

For those families, food is not simply food: it means calculation and vigilance, and planning ahead in ways that most of us never have to consider. Everyday foods that many of us take for granted are simply not options. That affects school meals, work, social occasions and travel, and it places a sustained mental and emotional load on individuals and carers alike.

I recently met with members of the board of the National Society for PKU and listened directly to people with lived experience of PKU. What came through clearly was not only the clinical reality of the condition, but the importance of consistency, predictability and clear communication in the support that people receive.

The recent drop-in event that was organised by Fulton MacGregor and held in the Parliament provided a valuable opportunity to hear those experiences directly and to understand current challenges in navigating care pathways.

The motion rightly highlights two developments that offer real potential to improve quality of life. First, there are on-going UK trials of a home blood phenylalanine—please excuse my pronunciation—monitoring device. As stakeholders have highlighted, the ability to monitor levels accurately at home could significantly reduce stress, improve control and support better day-to-day management. Secondly, there is an emerging treatment: sepiapterin. We heard evidence of how, for some people, that treatment could increase dietary tolerance and ease the relentless burden of restriction that defines daily life with PKU.

However, families and clinicians have been clear that innovation must be matched by clarity and consistency in how guidance is implemented in practice. People with PKU report inconsistency in how pathways are applied and how quickly individuals can access support. They want confidence that the national guidance translates into predictable, equitable care, wherever they live in Scotland.

I recognise that PKU care sits within the nationally commissioned inherited metabolic disorder services, with established clinical governance and decision-making structures. The ask from families is not to bypass those systems, but to ensure that they work consistently and transparently for patients.

If we are serious about improving long-term outcomes, strengthening services must mean more than recognising new developments. It must mean ensuring clear pathways, timely communication and the capacity within services to respond as evidence and treatments evolve. That matters for families in constituencies such as East Lothian, who should be able to rely on a system that supports them over the long term, rather than one that feels uncertain or fragmented.

People who are living with PKU already shoulder a heavy responsibility every single day. Our role is to ensure that public services support them effectively, consistently and with compassion. I fully recognise the nationally commissioned nature of inherited metabolic disorder services and the clinical governance arrangements that are in place, as I have said—however, the question that families ask is whether that national framework delivers consistently.

Respecting established appraisal and governance routes should go hand in hand with readiness in pathways, service capacity and communication. The debate is not about bypassing clinical decision making, but about ensuring transparency, consistency and confidence for families who are navigating a lifelong condition. If the system is intended to be national and standardised, it should be possible to demonstrate that lived experience reflects that ambition. I am pleased to support the motion.