Hansard

I warmly welcome members of the National Society for Phenylketonuria who are in the public gallery, and I acknowledge all those who are living with the condition and their families and carers; their presence is a powerful reminder of why the debate matters. It is a privilege to open the discussion, and I am grateful to the members who have supported my motion and those who have remained in the chamber to contribute.

Phenylketonuria, or PKU, is a rare and inherited metabolic condition. Individuals with PKU lack the enzyme that is required to metabolise phenylalanine—an amino acid that is found in nearly all proteins. When phenylalanine builds up in the blood and the brain, it becomes toxic, causing irreversible neurological damage, cognitive impairment and behavioural challenges. Although PKU is usually diagnosed shortly after birth, through the newborn heel-prick test, the treatment that it demands continues every day of a person’s life, with no opportunity to pause or take a break.

Managing PKU is unrelentingly complex. Every meal must be precisely calculated. Ordinary foods such as meat, dairy, eggs, bread, pasta and even most grains are largely prohibited. The majority of daily nutrition comes from synthetic protein substitutes, which are chemically derived and often unpalatable, and from specially manufactured low-protein foods, which can be difficult to access consistently. Patients rely on those foods to maintain adequate nutrition, but supply issues and prescription inconsistencies remain a real challenge.

For families, the burden is significant. Parents often spend upwards of 19 hours a week preparing special meals and carefully managing protein intake. Many reduce or give up paid work to provide the level of care that is required, with—unsurprisingly—mothers bearing the majority of that responsibility. Surveys show that more than 80 per cent of PKU-related care is carried out by women.

The mental health impact of those responsibilities is profound. Carers report stress and, in some cases, clinically significant psychological distress. Daily life is meticulously planned and social participation is often restricted. Children and teenagers face the additional pressure of fitting in with peers while maintaining a restrictive diet, which can contribute to disordered eating patterns, low self-esteem and social isolation.

Adults with PKU face their own set of challenges. While paediatric metabolic services are widely recognised and valued, the transition to adult care can be fraught with gaps. Many adults are no longer seen regularly by special metabolic clinics, which leaves them at risk of cognitive decline and psychological distress. Evidence from NSPKU research shows that only a minority of adults with PKU achieve the recommended blood phenylalanine levels, not because of a lack of effort but because of the practical difficulty of maintaining a highly restrictive diet without on-going support. Some adults must also travel long distances to access specialist clinics, and staffing shortages exacerbate delays in treatment initiation or monitoring.

The social and cognitive consequences of PKU are profound. Even well-managed cases show subtle but meaningful reductions in attention, processing speed, executive function, working memory and cognitive flexibility in comparison with unaffected peers. Poor metabolic control in adolescents and adults is associated with anxiety, depression, reduced social functioning and difficulty managing complex tasks. Disengagement from dietary treatment often creates a cycle in which patients are less able to access services and support, with serious long-term implications.

Emerging treatments bring hope, but also underline the need for timely adoption. Sapropterin, which is a synthetic form of tetrahydrobiopterin—I apologise to folk in the gallery if I have not pronounced that right—improves the metabolism of phenylalanine in a subset of patients, which allows for a less restrictive diet and a reduction in the treatment burden. I heard today from Caroline Graham of the NSPKU that her own children have benefited greatly from that drug—in a life-changing way, in fact. However, in Scotland, delays in assessment and initiation mean that some adults who could benefit from sapropterin remain without access to it.

Sepiapterin, which is a treatment that has been newly licensed internationally, works for a higher proportion of patients and offers the possibility of a more normal diet, but it has not yet been approved in the United Kingdom. Scotland must be positioned to adopt those new therapies swiftly to ensure that no patient is left behind. The outcomes for people who get those drugs can be absolutely life changing, and they should be made available.

Home monitoring technologies offer additional transformative potential. Devices such as the Egoo Phe system allow patients to measure blood phenylalanine levels at home, with near-instant results. That reduces anxiety and uncertainty, enables more informed day-to-day decisions and reduces reliance on clinic visits and delayed laboratory feedback. For patients and families, such technology represents independence, reassurance, greater confidence in day-to-day management, reduced anxiety and improved long-term metabolic control. Swift licensing of these devices and their integration into the Scottish national health service would be a significant step forward, and I hope that the Minister for Public Health and Women’s Health will reflect on that in her closing remarks.

Maternal PKU presents unique challenges. High phenylalanine levels during pregnancy are toxic to the developing fetus and can cause congenital heart defects, microcephaly or reduced IQ, yet with strict metabolic control and careful monitoring, women with PKU can have healthy children. Supporting women of childbearing age with appropriate education and access to treatments such as sapropterin—and, in the future, sepiapterin—is vital to ensure safe pregnancies and reduce anxiety and stress for expectant mothers.

Today’s debate also allows us to consider the broader social implications. PKU management places substantial responsibility on families, shaping their routine, work, social life and mental health. Carers frequently bear enormous emotional and practical burdens while patients may experience social exclusion or stigma. The NSPKU has highlighted that those burdens are often invisible, yet they are a real, persistent and deeply felt aspect of daily life. Recognising and addressing them must form part of any comprehensive approach to PKU care in Scotland.

The evidence is clear that PKU affects not only individual patients but whole families and communities. That highlights the importance of preventative and on-going care, equitable access to therapies and taking a holistic approach to support that incorporates mental, emotional and social wellbeing. Families repeatedly report that access to specialist dieticians, metabolic clinics and emerging treatments is not consistent across Scotland. That inequity leads to disparities in outcomes and can contribute to lifelong health inequalities. For those in more remote areas, the challenge is even greater.

The debate tonight presents us with an opportunity to consider policy, research and resource allocation simultaneously. We must ask ourselves how Scotland can ensure the timely roll-out of the new therapies; equitable access to specialist clinics; the adoption of home monitoring technologies; and recognition of the invisible care burden. People in the public gallery and across Scotland are relying on that. We must also consider how best to support the mental health and social wellbeing of patients and families, in particular during the transition from paediatric to adult services.

The NSPKU has been tireless in advocating for the PKU community. Its members have worked for decades to raise awareness, ensure access to treatments and provide support to patients and families. Its research and advocacy highlight urgent needs including equitable access to specialist adult care, timely roll-out of new therapies, integration of home monitoring technologies, support for mental health and recognition of the invisible care burden. Addressing those issues offers the opportunity reduce health inequalities, improve quality of life and ensure that all patients in Scotland can access the care that they require.

I encourage all members to engage with the NSPKU and hear directly from constituents who are affected by the condition; I know that many members did so during the recent drop-in session that I hosted in the Parliament.

To finish, I will read out two quotes that the NSPKU has provided to me, from parents who are dealing with the condition. One says:

“I found myself scrabbling on the floor with a brush and shovel to collect the measured frozen peas my toddler threw on the floor so I could reweigh them to work out how many he had not eaten, then I could weigh something else to replace them like sweetcorn.”

The second says:

“She resents the fact that her family can eat normally and she can’t. At mealtimes, she will go into a depression. Often she will ask to eat the crumbs of normal bread off our plates or we catch her licking our plates. It is awful to see.”

I can see that you are asking me to wind up, Deputy Presiding Officer. I think that those two quotes are a very good place to end, as they highlight the challenges that families and individuals face.