Phenylketonuria: Treatment and Support

Sharon Hodgson Excerpts

Tuesday 26th June 2018 Westminster Hall

[Mrs Sharon Hodgson (Washington and Sunderland West) (Lab)]

It is a pleasure to serve under your chairmanship, Mr Robertson. I thank my hon. Friend the Member for Blaydon (Liz Twist) for securing this important debate, for her excellent speech and for all her campaigning on the issue. I also thank all the Members who have spoken this morning. There has been a good number. I thank the hon. Member for East Renfrewshire (Paul Masterton), my hon. Friend the Member for Portsmouth South (Stephen Morgan), the hon. Member for Waveney (Peter Aldous), my hon. Friend the Member for Dudley North (Ian Austin), the hon. Members for Chelmsford (Vicky Ford), for Dwyfor Meirionnydd (Liz Saville Roberts), and for Strangford (Jim Shannon), my hon. Friends the Members for Warrington South (Faisal Rashid), for Hornsey and Wood Green (Catherine West), and for Derby North (Chris Williamson) and the hon. Member for Linlithgow and East Falkirk (Martyn Day) for their excellent contributions to this important debate.

I also thank the all-party parliamentary group on phenylketonuria, which is more commonly known as PKU. I understand the group was only recently set up by my hon. Friend the Member for Blaydon and others. It is already providing an invaluable forum for PKU to be discussed. Finally, I thank the National Society for PKU for the help and support it provides to sufferers of PKU, for its sponsorship of medical research into PKU and for the work it does with medical professionals in the UK. Just last week, it held a particularly informative event in Parliament sponsored by my hon. Friend. I attended it, and I know it will have been helpful in spreading awareness of this extremely serious disease. I found it very useful, and I know other Members did, too.

I had not heard of PKU. It is a rare metabolic disease that causes an inability to break down the amino acid phenylalanine, which can then build up in the blood and brain. Left untreated, PKU causes severe intellectual disability, seizures and behavioural problems. Damage caused by the disease is, tragically, irreversible. That makes early diagnosis and treatment essential. The only treatment available on the NHS for PKU is an extremely restrictive diet. A PKU diet involves avoiding most forms of protein, and taking a special protein replacement—as we have heard, it does not taste as good as what it replaces—to avoid malnutrition. I would like to briefly highlight a number of the problems with the treatment.

First, it is extremely restrictive. Only a small number of foods can be eaten without severe limitation. It is easy to think that almost all food allergies and requirements are catered for in the modern supermarket these days, but with PKU that is not the case. Some of the necessary food replacements are available only by prescription. For some sufferers, the nature of the diet can have a detrimental impact on their social lives, particularly for younger people, as we have heard from a number of Members. Sadly, a high number of PKU patients also suffer from eating disorders and other mental health problems because of it. The NSPKU recommends that all people with PKU should automatically have follow-up appointments with an integrated specialist metabolic physical dietician, along with support from a psychologist and support worker. Is that something the Minister agrees with? Are the Government looking into providing that kind of support?

The second problem with the current available treatment is that it places a huge amount of pressure on those who care for children with PKU. In order to administer the necessary diet, a significant amount of measuring and preparation is required. As we heard at the event last week, dietary care takes on average 19 hours a week according to a recent study.

[Catherine West]

Is the shadow Minister aware that nearly 60% of mothers who care for their children with PKU have some kind of other psychological stress associated with this type of lifestyle?

[Mrs Hodgson]

I was not aware of that fact, but it is hardly surprising when we realise how complicated the diet is. As the child grows, the calculations have to be changed. As we know, children’s sizes change every week, so it is a constant battle to try to get it right, and it is not surprising that that figure is so high.

As the consequences of a child with PKU consuming the wrong type of food are so severe, it is easy to see how much stress a carer can go through in ensuring not only that they are preparing the right food but that a child follows the diet, particularly when away from home, as we have heard, or in school. With that in mind, I want to know whether the Minister believes that patient-centred care should be extended to school support, psychological support and counselling in order to relieve some of the pressure on carers.

When we consider the fact that the consequences of failing to adhere to the necessary diet are so extreme, one would imagine that all treatments that could improve outcomes would be available. Sadly, as we have heard, that is not the case. As has been discussed this morning, a non-dietary treatment for PKU does exist, yet it is not available to patients here in England. Kuvan is a licensed medicine that comes in the form of a simple tablet. In some 20% to 30% of people with PKU, taking Kuvan considerably increases the amount of protein that they can eat each day while maintaining a safe phenylalanine level. Indeed, some patients are able to stop or decrease the use of specially manufactured prescription foods while taking the drug. For those people, having access to Kuvan would literally change their lives and in some cases it would allow them to come off their restricted diet.

Unfortunately, the treatment is not currently commissioned by the NHS, except in a very small number of cases and for women during pregnancy. That is despite its having been licensed in the USA since 2007 and in the EU since 2008. It is used by thousands of patients across Europe and around the world. We heard the full list from the hon. Member for Chelmsford, but I will simply mention such countries as Ukraine, Estonia and Turkey by way of example. Many patients who suffer from PKU will rightly ask why, if the treatment is available there, it is not here?

Although Kuvan is available to women during pregnancy, it can be difficult to get hold of. Tragically, some women with PKU avoid having children altogether owing to fear of the risks to the foetus associated with high levels of phenylalanine. I understand that NHS England has recently referred Kuvan to NICE after it went through its internal clinical panel. Can the Minister explain why there has been such a delay in commissioning Kuvan, and when we can expect it to be available to all patients? Indeed, I understand that it was under the appraisal process in NHS England for seven years.

Access to Kuvan is not the only PKU treatment that has been impeded by the structure of the NHS. For sufferers of PKU, there is a significant risk of variable outcomes and health inequalities, exacerbated by lack of access to special protein replacements and manufactured low-protein foods. Many PKU patients have reported difficulties in accessing the prescriptions they rely on, and some clinical commissioning groups have been found to actively restrict funding for PKU products. Has the Minister had any conversations with Public Health England and the CCGs to ensure that people with PKU have easy access to prescription-only foods and amino acid supplements?

As a parent who watched her children have the heel prick test as babies, I had no idea how important that test was. I had not heard of PKU back then and I thought the test was just a little test in which they check the hips and prick the heel. I can only imagine how it must feel to be the one out of 10,000 parents who receive a life-changing diagnosis for their child, only to find out that their life and the health of their child will be harder than they need to be because of what can only be described as rationing by their CCG and NHS England.

[Catherine West]

Does my hon. Friend the shadow Minister agree with me that it is a disgrace that it takes a court case to get the NHS, NICE and all the other bodies to respond, even when they have heard about the difficult times that families have? Does she agree that a family should not have to take the Government to court to get the treatment that their child needs?

[Mrs Hodgson]

I absolutely agree. It is shocking. I want to end by saying to all the campaigners here and across the country that I hope we have shown in this debate today that we are listening. All their campaigning has not been in vain. It has led to us having an amazing champion in my hon. Friend the Member for Blaydon, and it has led to this well-attended debate today. The Minister has heard all the powerful speeches. He is a compassionate man, so they cannot fail to have had an impact on him. I look forward to his response. This is his opportunity to give hope to thousands of people. Let us hope that he does so.