Phenylketonuria: Treatment and Support

Catherine West Excerpts

Tuesday 26th June 2018 Westminster Hall

[Catherine West (Hornsey and Wood Green) (Lab)]

It is a pleasure to serve under your chairmanship, Mr Robertson. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing this important debate. I will speak on behalf of my 11-year-old constituent, Olivia, and describe a bit of her struggle. I congratulate her parents on fighting so hard for her, because the stress on families is incredible. We have heard from many hon. Members about the impact that PKU can have on the whole family and just how isolating it is. The National Society for Phenylketonuria is helping us as parliamentarians to get to grips with the issues.

We have heard how restrictive the diet is. My hon. Friend the Member for Newcastle upon Tyne North (Catherine McKinnell), who is no longer in her place, talked about going to a pizza restaurant at the age of 18. Olivia is 11, but she is allowed only 8 grams of protein a day. She was fortunate enough to participate in the one-month trial of Kuvan, and she was found to be a responder. Her protein tolerance increased from 8g to 27g. On Kuvan, she had safe, low blood results and ate healthy, natural, normal vegetarian food. She could have baked beans at school on a Friday with a normal-sized portion of chips, just like her friends. It filled her plate—and her, instead of leaving her hungry. Her teachers commented on how bright and focused she was in lessons. Ironically, they asked, “What did she have for breakfast today?” Olivia loves life, and, during that month on Kuvan, it showed, just as it does for everyone else.

As many hon. Members have pointed out, it seems anomalous that a drug that is licensed in the US and the EU is still so difficult to obtain for our constituents. NHS England has handed the draft policy on commissioning Kuvan to NICE for review, but no date has been set. I press the Minister for a date, because it is absurd that Kuvan has been prescribed for years as a routine treatment in the rest of the developed world.

For Olivia, the waiting is taking its toll. She has frequent and severe migraines that cause vision disturbance, light, sound and taste sensitivity, vomiting and gastroparesis. During such times, she loses her PKU supplement and exchanges food, which takes her off diet for the duration of the migraine. They are difficult times for the whole family. Her illness and temporarily altered sense of taste mean she cannot drink the supplement and wants the normal food she prefers. How could anyone refuse a sick child because the food contains too much protein? She can be off diet for 60 hours.

Last year, Olivia was also diagnosed with moderate to severe scoliosis—a curved spine—for which she has to wear a back brace for 23 hours a day until she is 16 years old. It is uncomfortable, painful, and often prevents sleep. Her consultant said that spinal fusion surgery would likely be advised, but PKU is likely to result in low bone density, especially among girls. Olivia had a scan that showed that her bone density was abnormally low and getting worse.

Nothing more can be done dietetically; the amino acid supplement contains the correct levels of calcium, vitamin D, vitamin K and potassium, but it does not contain whole protein, which plays a major role in bone density. By definition, the diet goes to great lengths to avoid whole proteins, and that is one of the consequences. Olivia may therefore never be able to have the spinal fusion surgery that she needs, because her bones are not strong enough to take the screws and rods that would need to be drilled and fixed to her spine. Kuvan would at least allow her to eat more whole natural protein. Would that not be better for her, and everyone else who has been mentioned? The only access route to Kuvan remains an individual funding request. I hope that the Minister will consider that issue in his response.

--- Later in debate ---

[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.

[The Parliamentary Under-Secretary of State for Health and Social Care (Steve Brine)]

No pressure, then. I will try to give some hope.

Thank you, Mr Robertson, for chairing our debate. I also thank the hon. Member for Blaydon (Liz Twist) for introducing the debate with such humanity. She speaks so well and passionately on this subject. We also heard from my hon. Friend the Member for East Renfrewshire (Paul Masterton), who mentioned the Irn-Bru issue. The Treasury has a policy on the sugar tax, which is part of our child obesity plan. We published the update on that yesterday. The policy long predates me. This subject has not been raised with me before, but we cannot let the bad be the enemy of the good. Taking sugar out of fizzy drinks is a good thing for society, but the unintended consequences of that need to be addressed, and he is right to raise it.

We also heard from the hon. Gentleman from my own county, the hon. Member for Portsmouth South (Stephen Morgan), from the hon. Members for Dudley North (Ian Austin), for Warrington South (Faisal Rashid), for Hornsey and Wood Green (Catherine West), for Derby North (Chris Williamson), and from my hon. Friend the Member for Waveney (Peter Aldous), who always speaks so passionately, from the hon. Member for Dwyfor Meirionnydd (Liz Saville Roberts), and, as always, the hon. Member for Strangford (Jim Shannon), all of whom—I think everybody—touched on the subject of Kuvan. Many touched on the dietary aspect and everybody gave personal examples of constituents. I hope to address all of those subjects.

I congratulate the hon. Member for Blaydon and the all-party group on the work that they do. When I was a Back Bencher I was involved in many all-party groups, including the APPG on breast cancer with the hon. Member for Washington and Sunderland (Mrs Hodgson), who speaks for the Opposition. So much of the good work of this place goes on in APPGs. I hope that the public watching inside and outside today can see that.

The House debated PKU and Kuvan in March this year, led by my hon. Friend the Member for Chelmsford (Vicky Ford), who spoke well again today. I was not able to attend that debate in person back in March, so I am grateful to have the opportunity today to hear the issues around PKU and access to treatments. I have learnt a lot today, as I did in my reading ahead of today. The importance of rare diseases, of which PKU is one, is of course recognised by us and by policy makers and healthcare service providers in the UK and internationally, and rightly so. One in 17 of us will suffer from a rare disease at some point in our lives.

With the number of known rare diseases steadily growing as our diagnostic tools improve, the Government remain focused on and dedicated to improving the lives of those living with a rare condition. That was reinforced in the Prime Minister’s words last Monday at the Royal Free. I was fortunate to be there when she set out a vision for the long-term plan for the NHS, underpinned by increased funding for the service. She said the UK had an opportunity,

“to lead the world in the use of data and technology to prevent illness, not just treat it; to diagnose conditions before symptoms occur, and to deliver personalised treatment”,

informed by our own data, including our genetic make-up. I will say more about that in a moment.

Early and accurate diagnosis of rare conditions is essential for the best outcome for patients with rare diseases such as PKU. We know that without early treatment the outlook for those born with the condition is very poor, as the Scottish National party spokesperson, the hon. Member for Linlithgow and East Falkirk (Martyn Day), and the Opposition spokesperson, the hon. Member for Washington and Sunderland West, said. With early treatment, however, the outlook can be good, which is why, as a number of speakers have said, screening has such a vital role to play. I have two children, and equally watched the pin heel prick with trepidation—little did I know what it could have found. I had no idea what they were doing—I was in that daze—let alone what it could have found, so I have great compassion for people in that moment.

The current newborn screening programme in the UK is based on the blood spot test—the heel prick test that we have referred to—and screens for nine rare but serious conditions, including PKU. With that early diagnosis, treatment can start straight away. For patients with the condition, that treatment includes a special diet and regular blood tests. We have heard so many incredible examples today.

We have heard how severely limiting a protein-restricted diet is and how difficult it must be for any patient to stick to, but particularly for young children. Those of us with young children can really feel that. Children with PKU, as has been said, cannot eat most of the foods that we all take for granted, such as meats, fish, milk and treats such as chocolate—everything in moderation—and that is just to name a few.

I stand here as a Minister, but also as a constituency MP. I, too, had not heard of PKU until constituents brought the condition to me. I recently met with one of my constituents, Sarah, who was a doctor and, like many people, as we have heard, had to give up her job to look after her children. Her three-year-old daughter, who is a beautiful little girl, lives with the condition. I heard first-hand of much of the daily strain that it puts on her daughter and the family. My constituent, like many carers, cares for the child full time—preparing the meals, calculating ingredients and going to doctor appointments—and has had to give up her career. As the hon. Member for Blaydon said in her introduction, when we say that the condition can be treated by diet it sounds quite easy. However, in an email last night my constituent said to me,

“If she goes off ‘the diet’, she will suffer permanent and irreversible brain damage.”

If my seven-year-old boy goes off diet and drinks a fizzy drink we certainly suffer the consequences, but it usually lasts for only an hour. I have a great understanding from today’s debate about that.

I understand that even in adulthood, as the hon. Member for Dwyfor Meirionnydd said, PKU can cause harrowing symptoms that make any attempt at a normal life and contributing to society very difficult and sometimes impossible. The availability of specially formulated low-protein foods and nutritional supplements through the NHS is therefore vital. Since its development in the ’50s, it has saved the lives of and improved outcomes for many patients.

I cannot deny that PKU is not on the list of medical conditions in England that are exempt from prescription charges. As such, only the usual age-related pre-paid certificate exemptions apply to such patients. That is the current situation, but everything can be challenged and can change. As I said at the start, the power of all-party groups is incredible, and perhaps that is something that the all-party group may wish to look at and campaign on.

An awful lot of information is available. My constituent Sarah is also the editor of the National Society for Phenylketonuria’s magazine. She sent me the summer 2018 edition last night, which I read overnight. It was a really interesting read, and I might touch on a couple of things in it before I close. That magazine and its website contain all sorts of information on foodstuffs, advertisements for foodstuffs, products and recipes—and yes, avocado does keep coming up.

[Catherine West]

Will the Minister give way?

[Steve Brine]

I will briefly, but then that will be it, because I know hon. Members want to hear from me, as the Minister. We have heard from Back Benchers.

[Catherine West]

As the Minister knows, there have been five applications for an individual funding request. Two of those were allowed and one, which I mentioned earlier in the debate, had to go to the High Court. The judge declared that the decision that had been made was irrational and unlawful. Will the Minister not just speak about the dietary supplements, which we can all find out from Google, but about what he is doing to push these requests? Specifically, what is he doing on behalf of Olivia, aged 11, whose mother is here today, who would like to know whether he will personally support her application for Kuvan?

[Steve Brine]

I was going to come on to talk about Kuvan; obviously, I stopped to listen to the hon. Lady’s intervention. No, I will not personally support an individual request. That would not be appropriate for a Minister at the Dispatch Box. That is not how our system works, but if she wishes to write to me with the specific example then of course I will see that she gets a reply. That should be handled through the right processes. I know that the processes for individual funding request applications are sometimes torturous, and I am sure that we could do them better.

Let us touch on Kuvan, which everybody has raised. It is one treatment option that has been found to lower blood phenylalanine levels in some patients with mild or moderate PKU. We know that the drug is effective in a small number of patients, depending on their genetic make-up, and is more likely to benefit those with milder forms of the condition. If patients respond to treatment, it is likely that they will still need to continue with some form of dietary restrictions—everyone understands that.

As we have heard, Kuvan is not currently routinely commissioned for use in children and adults. That is due to the lack of evidence of its effectiveness on nutritional status and cognitive development at the time the policy was developed in 2015. NHS England does, however, have a commissioning policy for PKU patients with the most urgent clinical need—namely, pregnant women, as we have heard.