Hansard

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have to be sent to Glasgow by post to be analysed and, when the results are returned, they are already several days out of date.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.