The final item of business is a members’ business debate on motion S6M-20160, in the name of Fulton MacGregor, on improving support and treatment for people living with phenylketonuria. The debate will be concluded without any question being put.
I ask members who wish to participate to press their request-to-speak buttons now or as soon as possible, and I invite Fulton MacGregor to open the debate.
Motion debated,
That the Parliament recognises that phenylketonuria (PKU) is a rare, lifelong metabolic disorder in which the body is unable to process the amino acid phenylalanine, leading to a risk of severe and irreversible neurological damage without strict dietary management; acknowledges the significant daily burden placed on individuals and families living with PKU, including the need for constant monitoring and the exclusion of most everyday foods; notes the recent drop-in event hosted in the Scottish Parliament, which highlighted lived experience and current challenges in accessing treatment and support; further notes ongoing UK trials of a home blood phenylalanine monitoring device and the emerging treatment, sepiapterin, both of which offer the potential to improve quality of life; recognises the work of the National Society for Phenylketonuria (NSPKU) in advocating for improved care and access to treatment, and notes the calls on the Scottish Government and NHS Scotland to consider how services for people with PKU can be strengthened to support better long-term outcomes, including in the Coatbridge and Chryston constituency.
17:10
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.
We move to the open debate.
17:59
I thank Fulton MacGregor for bringing this very important topic to the chamber. I feel privileged to have the opportunity to speak about phenylketonuria, known as PKU, which is a rare inherited metabolic condition, and the serious issues that face people in Scotland who are living with it.
PKU affects how the body breaks down phenylalanine, which is a natural part of protein. When levels build up in the blood, they cause damage to the brain; that damage is permanent and cannot be reversed. In Scotland, babies are diagnosed early through newborn screening, and that early diagnosis is vital. However, diagnosis is only the beginning—living with PKU is lifelong and demanding.
For decades, the main treatment has been a highly restrictive, low-protein diet. As we heard, protein intake must be tightly controlled every day, for life. Even when that diet is followed extremely well, there is evidence of on-going effects on brain health. We must consider the impact on those who struggle to maintain such a strict regime over many years. The reality is that that dietary treatment places a huge burden on individuals and families.
On hearing that I would be speaking in the debate, my friend and former colleague Alison Harris got in touch with me, as her family has experienced PKU at first hand. Her cousin John and his late wife AnneMarie had three children, all living with PKU. Throughout their entire lives, they have had to be extremely careful, and AnneMarie and John have worked tirelessly to ensure that they are on the correct diet.
That experience reflects what many families across Scotland face—quietly, every day. It affects education, employment, mental wellbeing and social life and it requires constant planning and monitoring, with very little flexibility.
That is why the medicine sapropterin, also known as BH4, which was approved for NHS use in Scotland in 2022, is so important. For some people with PKU, BH4 can significantly reduce phenylalanine levels and allow for a less restrictive diet. It does not remove all dietary requirements and limits, but it can reduce daily pressure and improve quality of life. For those who can access it, it is genuinely life changing.
However, despite the treatment being approved and available, many adults in Scotland are unable to access it—not because it would not work for them, but because the pathway that is required to start it, including response testing, is not consistently available. That raises a fundamental issue: a medicine that exists but cannot be accessed is not delivering any benefit. Availability on paper is not the same as access in practice.
I ask the Scottish Government for a clear commitment. Will it commit to identifying and removing the barriers that are preventing people with PKU from accessing BH4 in Scotland? Will it commit to supporting those individuals now, rather than leaving them reliant on diet alone, despite clear evidence that diet is not always enough?
Looking ahead, Scotland must also be ready to evaluate and adopt future treatments, such as sepiapterin, without unnecessary delay, so that people living with PKU are not once again left waiting for years to get access. That is not about convenience—it is about protecting brain health, reducing lifelong harm and recognising the limits of dietary treatment.
PKU may be rare, but its impact is lifelong. Families are doing everything that is asked of them, and it is time for the system to meet them with the same level of commitment. Scotland can do better for people who are living with PKU, and we must.
17:25
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.
17:28
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.
17:32
I thank my colleague Fulton MacGregor for bringing this much-needed debate to the chamber. The debate is important, as the condition is relatively rare and we absolutely need to raise awareness of it. I also welcome those who are in the public gallery.
Until a few months ago, when I was contacted by a constituent, I was completely unaware of PKU. As a former journalist of several decades and an MSP of nearly a decade, I find that that sort of thing does not usually happen.
I do not believe that there should be a hierarchy in research and treatments relating to any medical condition. Cancer, heart conditions, diabetes, multiple sclerosis, motor neurone disease and PKU must all be treated as conditions that should benefit equally from research, with equal access to medicine and treatments.
As Fulton MacGregor articulated, PKU is a rare, inherited metabolic condition in which the body cannot properly break down the amino acid phenylalanine, which is a natural component of protein. The condition is usually diagnosed shortly after birth, through the newborn heel-prick blood test, which has been in place in the UK since 1969.
As with all conditions, early diagnosis is essential for the best outcome. The condition affects around one in 10,000 people across the UK and one in 8,000 in Scotland. As we have heard, people with PKU lack a functioning enzyme that is required to metabolise phenylalanine. As a result, it builds up in the blood and the brain, where it is toxic and can cause irreversible brain damage if it is not controlled.
My constituent Jamie is a remarkable young woman who has lived with the condition for her whole life. With the help of her supportive family and friends, she has certainly not let it hold her back. She is at the forefront of the campaign for better awareness and access to treatment for sufferers. She was one of the first patients in Scotland to be prescribed sapropterin, and she has just learned that she will now be given a higher dose, which will mean a far greater quality of life for her.
However, Jamie says that monitoring Phe levels is expensive and slow, with blood tests taking several days to complete. They have to be sent to Glasgow by post to be analysed and, when the results are returned, they are already several days out of date. Funding new home monitoring test equipment for all patients would give them an instant understanding of their blood levels and would save money. For example, pregnant women need to submit two tests per week for analysis—at £1.70 for a first-class stamp now, that is a significant cost to the patient.
PKU patients in the UK had to wait 10 years longer than those across Europe and the Americas for access to sapropterin, so a delay in new treatments coming through is simply not acceptable. However, the drug is not suitable for everyone, and the condition must be managed through a severely restricted diet. The dietetics team in Glasgow is managing services across Scotland, but it is understaffed and is struggling to support patients.
Barbara Cochrane, the recently retired dietician in Glasgow who strongly advocated for PKU patients for many years, must be commended. She is described as someone for whom nothing was too much trouble—a massive well of enthusiasm and energy.
Another issue that must be addressed is that there is no comprehensive national patient registry. As a result, the total number of people who are living with PKU in Scotland and in the UK is not precisely known. Untreated PKU leads to profound and irreversible intellectual disability, seizures and behavioural problems. As that damage cannot be reversed, early and sustained treatment is essential.
As has been mentioned, it is important to remember that the majority of people with PKU remain reliant on dietary treatment, as the majority of patients do not respond to the drug. With the exception of fruit and some vegetables, there are very few ordinary foods that can be eaten freely by people with PKU. That is very difficult, in particular for young people who are trying to enjoy a normal social life, as we have heard. When dietary management breaks down, families may face involvement from social services, and huge problems can result from that.
PKU is a lifelong condition with serious consequences if it is poorly controlled. Patients and families continue to shoulder an extraordinary burden with restrictive diets, unequal access to therapies and limited support for self-management. It is time now to end that health inequality, address the issues that have been debated in the chamber tonight and deliver fairer care for people who are living with PKU in Scotland. It is the very least that they deserve.
Before I call the next speaker, I encourage all members who wish to speak to make sure that their buttons are pressed.
17:38
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.
17:42
I thank Fulton MacGregor for securing the debate, and I thank the colleagues who have taken part. It is important that the voices of the PKU community are heard in the Scottish Parliament.
As we have heard, PKU is a rare inherited metabolic condition that demands an extraordinary level of discipline. It is a relentless 24/7 commitment to a diet that is so restrictive that most of us would struggle for even a single day, never mind a lifetime. Yet, for the PKU community, that is a necessity to prevent irreversible neurological damage.
I join colleagues in paying tribute to the National Society for Phenylketonuria. Its advocacy is the reason why we are here. I also thank the individuals and families who attended the recent drop-in event, which was excellent. Their bravery in sharing the realities of their lived experience is what drives policy change. It was a pleasure to meet them all—I can see some of those faces in the public gallery. I mention Mags Lappin from my home town of Blantyre. Mags first contacted me a few years ago to tell me about the condition and her daughter Carys. Carys is an adult, so Mags has a lot of experience. She is a tireless campaigner, but she should not have to be.
Parents and caregivers are exhausted. What has struck me, and what I want the minister to take from my contribution, is that Mags has an adult daughter and she describes the current state of Scottish clinical services for adult PKU patients as “frightening”. In her own words, Mags has witnessed a “demise” in care. She recalls a time when Glasgow had a world-class metabolic team. To see those services erode to the point at which she believes that we have “gone back 30 years” is simply heartbreaking, so we need to get a response to that.
The motion highlights two game changers: home blood monitoring and sepiapterin—I have probably not said that properly. Currently, patients use dry blood spots. They have to prick their finger, mail a card to a lab and then wait days for a result. That is like a person with diabetes having to wait a week to know their blood sugar level. That would not be acceptable. New trials of point-of-care devices allow for results in under 30 minutes via a smartphone app. That does not just provide data; it provides freedom and the ability to make real-time dietary adjustments.
Likewise, the APHENITY phase 3 trials for sepiapterin have shown incredible promise. In those trials, nearly 73 per cent of participants saw a significant reduction in blood phenylalanine—again, from my pronunciation, members will be able to tell that I am not a clinician—and some were even able to double or triple their daily protein intake. For a PKU patient, that is the difference between a life of medical formula and the ability to eat a more normal meal.
However, innovation is no use if it does not reach the patient. Carys was able to trial sepiapterin only because her mum would not let the issue go. Even then, Carys was at only half the European guideline dosage. I ask the minister to take a look at why, in Scotland, we are seeing patients receiving treatment that goes against international guidelines and the standards that are set across the rest of the UK. We need to look at the chronic staffing shortages that leave families feeling left behind and abandoned. Adult care, in particular, appears to be totally unacceptable. We need accountability. We need dedicated metabolic dieticians and a commitment to those new technologies.
We cannot allow the clock to tick backwards. Mags and Carys and many others have fought for long enough, and we need to make sure that we have PKU services for everyone in Scotland that we can all be proud of.
Before calling the next speaker, to allow all those who want to participate in the debate a chance to do so, I am minded to accept a motion without notice, under rule 8.14.3, to extend the debate by up to 30 minutes.
Motion moved,
That, under Rule 8.14.3, the debate be extended by up to 30 minutes.—[Fulton MacGregor]
Motion agreed to.
17:47
I congratulate the member on securing the debate and I welcome the guests in the public gallery. I apologise for being unable to be at the event in December.
I will come clean and say that I knew nothing about PKU until I heard about this debate but, after I spoke to Fulton MacGregor briefly and asked him what it was about, I wanted to find out more. I have been here for 27 years and I have never heard PKU mentioned—nobody has mentioned it to me. A bit like Douglas Ross said, that was the pricking of the heel, and I now want to tell my constituents about the issue.
My summary might have mistakes, because it has been gleaned from members’ contributions, and I will not even try to pronounce the clinical terms. However, as I understand it, broadly, the condition is to do with a failure to process proteins appropriately. It is inherited, it is incurable and the damage is neurological and very serious. The condition means that people have to calculate what they are eating and how they are eating it, almost down to the single frozen pea. An example was given of a toddler. It is bad enough feeding a toddler at any time, but imagine feeding a toddler and having to calculate what they have eaten, knowing that it could have devastating effects if it is not done properly.
That took me onwards to think about what happens when children go to nursery, and then to primary or secondary school. What happens when they go to a pal’s birthday party? There is a ripple that extends throughout their childhood. For a very long time, children will not understand why they have to do that, and they will certainly resent it. That will place huge stress on the person who is dealing with it. As I understand it, that is usually the women in the family. It means that people have to give up their work and therefore lose income. The ripples are enormous, and the challenges are huge.
I have heard that there are certain therapies and drugs that might alleviate the condition, although I do not think that they have gone before the Scottish Medicines Consortium yet. I also heard about dieticians, and I heard from the colleague who has been a dietician about what is required.
I represent the Borders and Midlothian, and I have no idea how many people in my constituency have PKU or what the facilities are, but that is not the end of the matter, because I am going to find out. After the debate, I intend to put a link to the debate on my Facebook and to ask people who know about the issue to tell me what is happening in their area. I will also write to NHS Borders to ask what facilities it has in place.
We all know about allergies, such as peanut allergies, milk allergies and this, that and the oatcake, but it is a sadness that people do not know about PKU, which is a fundamental, very serious and devastating inherited disease. However, I say to Fulton MacGregor that the good thing about members’ business debates—I do not like it when we have members’ business debates that are controversial and really party political, but this debate is not one of those; PKU is deserving of a debate, as was the subject of Tourette’s, on which we had a debate a few months back—is that we can bring a very serious and important minority issue into the public arena.
As I said, I am going to put a link to this debate on my Facebook, I am going to ask about it and I am going to find out what is happening in my constituency. I say to the guests in the public gallery that they have educated a politician, which is no mean feat, and that that politician will endeavour to educate her constituents. I hope that that will be helpful.
17:51
I, too, thank Fulton MacGregor for securing the debate and for his work on the issue.
Like Christine Grahame, I did not know about the condition until I was contacted by constituents in the lead-up to the event before Christmas. It is surprising that so many of us knew so little about it. I pay tribute to my constituents who have shared their personal experiences with me, and I am glad that some of them have been able to join us in the public gallery this evening.
As other members have said, PKU is a rare lifelong metabolic disorder that, without strict dietary management, can lead to severe and irreversible neurological damage. As Rona Mackay said, it is estimated that around one in 8,000 people across Scotland are currently living with PKU.
The condition places a significant daily burden on individuals who have it and their families, given the need for constant monitoring of diet and the need to avoid the consumption of many everyday foods, such as bread. Those of us who spoke to people who are directly affected by the condition were astonished to learn about the impacts that it has and impressed by the amount of work that those people do in attempting to manage the condition.
Many children with PKU are more likely to suffer from issues with their attention levels and their ability to process information, which affects their educational attainment. As has already been said, many young people and adults with PKU are more likely to suffer from social isolation, poor mental health and physical health issues. Almost half of parents have had to reduce their working hours or to give up working altogether to provide the necessary dietary care to their children with PKU.
It is clear that the condition has an impact on many aspects of public policy, so it is important that there is higher awareness of it across the public sector. I would be grateful if the minister could outline what steps the Scottish Government is taking to improve support for individuals with PKU and their families to address those issues. I say to the minister that it is clear that it is not an issue that affects only her portfolio.
A concerning issue that came to light in the meetings that I had around the event in December related to people’s experience of how such matters are dealt with in Scotland and in England. They said that, when it comes to some of the medical care that is available, the situation is better down south. I would be grateful if the minister could respond on that issue when she winds up the debate.
We know that lifelong monitoring of PKU is also vital to safeguard health and reduce the risk of avoidable harms, yet the experience of many people who are living with PKU suggests that the current provision of care by the inherited metabolic disease service is inadequate. That point has been made by a number of constituents. There are stories of no face-to-face meetings being provided, years going by between appointments and individuals disengaging from care altogether due to a lack of regular specialist follow up. It would be helpful for the minister to respond to that in summing up.
We know that it is not only individuals with PKU who have been experiencing issues with the inherited metabolic disease services, with charities such as Genetic Alliance Scotland highlighting that similarly inadequate care is being provided to others with rare diseases. I look forward to the minister responding to some of my points, and I reiterate points that have been made by other members on the availability of specific medications that help those who can access to them.
I call Jenni Minto to respond to the debate.
17:55
I, too, welcome the opportunity to respond to the motion on phenylketonuria—I will use “PKU” for the rest of my speech because, like others, I do not have a medical background and I recognise the tongue-twisters that we seem to be approaching.
I recognise the experiences of individuals and families across Scotland who live with this rare and lifelong metabolic disorder. I thank Fulton MacGregor for lodging the important motion and welcome those who are in the gallery to the Scottish Parliament—it is your Scottish Parliament. The event that was held in the Parliament has informed members’ contributions to the debate, which shows the importance of raising awareness among MSPs and ministers.
Like Christine Grahame, I reflected on the debate on aphasia that I responded to late last year. That debate and this one have been two important debates through which members have been able to raise awareness of conditions and challenge what the Scottish Government is doing and ensure that it speaks to health boards. Christine Grahame is absolutely right that the debate is not party political.
I extend my sincere thanks to the NSPKU and everyone who attended the drop-in event in December. Their advocacy and willingness to share the realities of living with PKU have been absolutely invaluable. Paul McLennan’s point that food becomes a calculation for those with the disease stuck with me. Being shown the traffic light system, as it was explained to me, was very powerful. I know that other members have talked about that, too. It is fair to say that the people who I met who are living with PKU described a life of constant challenges, living only with foods classified as red, amber and green. However, once they were able to access sapropterin, life was more like a rainbow.
I take on board Katy Clark’s point about social isolation.
I would be pleased if Douglas Ross could write to me about his constituent. I am very happy to look into the situation in NHS Highland. I confirm that the reason why I shook my head is that I do not like describing any of our constituencies as remote. Remote is a state of mind—let us look at it that way.
The Scottish Government is committed to improving the care and support available to people who are living with rare conditions, including PKU. I pass on the Cabinet Secretary for Health and Social Care’s apologies for not being present for the debate. The subject is close to his heart and I know that when he was an MP at Westminster, he worked very hard with the NSPKU and many of his constituents. I pass on his gratitude to them for the clear arguments that were provided to him to improve the service.
Will the minister take an intervention?
I would like to make a bit of progress first, please.
We are equally committed to listening to those with lived experience and to working collaboratively with clinicians, patient groups, the third sector and our counterparts across the UK. Their insights and partnership working are essential in shaping services that truly meet people’s needs.
A number of people have asked about the work that the Scottish Government is doing. I confirm that the chief pharmaceutical officer will meet the chair of the medical advisory panel at the NSPKU in early February to discuss the challenges experienced by people who live with PKU in obtaining specialised low-protein food products on the NHS. The chief pharmaceutical officer is in the chamber tonight, so she will have heard many of the points that have been raised and I will ask her to ensure that they are reflected in her conversations.
I am encouraged by the minister’s remarks so far. Does she agree that it is important that we get it right for every single PKU patient, including those who have other health conditions or who may be neurodivergent? One of my constituents has been in touch about her children who live with PKU and who are also autistic. Their health outcomes right now are awful—I will not go into detail about those, but I would appreciate the chance to speak to the minister, and perhaps she could meet that family. There are people with other challenges who are not having their needs met.
I recognise the fact that many people in Scotland are living with more than one condition. It is important that we as a Government recognise that—I believe that we do—and that we work with health boards to ensure that the person is at the centre of care. I would be happy to have a further conversation with Ms Lennon about that.
Several people have commented on the fact that PKU is deemed a rare disease. Scotland has its first rare disease action plan, which is designed to tackle what genuinely matters to individuals and families. We will work closely with the community through Scotland’s rare disease implementation board to ensure that the plan is delivered effectively.
As many people have noted, PKU specialist care in Scotland is delivered through the inherited metabolic disorders service and is commissioned nationally by NHS National Services Scotland. Rona Mackay, Katy Clark and Monica Lennon all noted that there have been some staff concerns in that area. As I understand it, the IMD service has been carrying a clinical lead vacancy for some months. The post has been advertised and interviews will take place this month—I hope that that goes some way to alleviating the situation, but I recognise that we need to spend more time looking at it and I appreciate members’ contributions on that.
In relation to new and existing medicines, the Scottish Government remains firmly committed to increasing the availability of medicines that the people of Scotland need. Through the Scottish Medicines Consortium, we have a robust, independent process for assessing the clinical and cost effectiveness of new medicines, which ensures value for patients and the NHS.
I will clarify briefly the current position on access to medicines for people in Scotland who live with PKU, because I know that it is important for them and their families. The branded version of sapropterin, known as Kuvan, was assessed by the SMC in 2018. At that time, it was not recommended for routine use in the NHS in Scotland because the evidence provided by the pharmaceutical company did not demonstrate its cost effectiveness. The company chose not to resubmit to the SMC. In 2021, the first generic version of sapropterin was licensed in the United Kingdom. Generic medicines are medicines that are outwith their patent period, so they can be manufactured and supplied by a number of companies. The assessment of generic medicines falls outside the scope of the SMC. To support access, a procurement exercise was undertaken by NHS National Procurement, which resulted in a significant discount in the generic price.
Fulton MacGregor rose—
I note that Fulton MacGregor would like to intervene. I will take his intervention quickly because I have an event after this.
Briefly, please.
The minister will probably go on to talk about this, but are she and the Government aware of the three drugs that can be used? She has mentioned sapropterin, which can help roughly 20 to 30 per cent of patients; there is also sepiapterin, which has also been mentioned and which can help a further third of patients, and I think that I am right in saying that clinical trials are under way for a third drug that might alleviate most people’s condition.
Fulton MacGregor has anticipated what I was about to say. Sepiapterin—I hope that I have pronounced that correctly—is expected to be launched in the United Kingdom in late 2027.
Some points have been made on national guidance, on which I am happy to write to members, and on the home monitoring kits, which I understand are in a research phase to demonstrate their efficacy and overall value. The chief pharmaceutical officer will be discussing that issue in the meeting that she will be having next month.
Families such as those known to Fulton MacGregor and to others in the chamber and across Scotland show extraordinary resilience in their management of PKU day in, day out. I assure them that the Scottish Government remains deeply committed to improving outcomes and to making a real and meaningful difference in the lives of everyone living with PKU and other rare conditions in Scotland.
Thank you, minister. That concludes the debate.
Meeting closed at 18:05.Air ais
Decision Time