Phed up is an independent group of PKU patients and parents of PKU sufferers. Our goal is to obtain NHS funding for new drug treatment – currently Sapropterin/Kuvan, and later PEG-PAL, if successfully developed. One of our key aims is to ensure that the views of PKU patients and parents are listened to and acted upon in relation to new treatments for PKU.

Our campaign is focussed on Sapropterin/Kuvan because:

i) There are patients who respond very well to this drug (increasing or even doubling their exchanges or more and thereby greatly enhancing their quality of life). Despite this the NHS has refused funding.

We believe that every person with PKU should be tested for responsiveness to Sapropterin/ Kuvan. Our experiences since starting this campaign have revealed that not enough is known about PKU to make reliable predictions of responsiveness for every PKU patient. There is increasingly undeniable evidence from clinicians and researchers that when more PKU patients are tested, a surprisingly large number of patients with classical PKU prove responsive. At the ESPKU conference in Dublin in November 2016 and the NSPKU Conference in Oxford in April 2017, Phedup member Mandy Macedo gave a well-received presentation on the lengths she was prepared to go to to get NHS funding for Sapropterin for her son Charlie, who has severe or ’classical’ PKU and who went from 3 to 15 exchanges under his treatment with the drug. (1) Charlie’s Kuvan is now funded by the NHS. Charlie’s case is not clinically exceptional but his mother’s fight for funding is. It reveals, as Mandy said in her talk, that refusing to take no for an answer is the only way to succeed and this remains Phed Up’s credo.

In the Winter 2010/2011 issue of the NSPKU’s magazine New & Views, Dr Suresh Vijay did us all a great service by accurately summarising the considerations involved in the NHS’s negative response to the arrival of a breakthrough drug treatment for PKU (2). Since then, following the restructuring of the the NHS, the responsibility for commissioning drugs for rare diseases like this falls to NHS England centrally, rather than to the local Commissioning Groups created at the same time, and NHS England has continued to refuse to fund Kuvan except for maternal PKU. Along with the NSPKU, in September 2015, Phed Up attended a meeting with the decision makers at NHS England and learned that their rationale for refusing to fund remains largely unchanged. But so do the increasingly compelling reasons why this needs to be challenged by members of the PKU community.

What follows is Phed up’s position on each of the four key facts and considerations Dr Vijay listed in 2011 which still usefully summarise the NHS’s current position as of 2017:

The PKU diet has been a medical success story in that, through the work of dedicated, and in many cases absolutely selfless doctors and researchers, it has saved generations of PKU sufferers from acute mental and physical retardation. We are all fully aware that, if left untreated, PKU can have awful consequences. Early diagnosis via the heel prick test followed by a supervised prohibition of practically all normal foodstuffs and sustenance through artificial, laboratory-made supplements has, since the 1960s, saved people born with PKU from drastically reduced lives. We are all in agreement that everybody involved in the development of the diet deserves the heartfelt gratitude of PKU patients, parents and carers. However, things have changed since the arrival of a drug treatment. We consider it unacceptable for the NHS to insist on the diet as the sole treatment for PKU, when a drug has been developed which could lessen its harshness for a presently unknown proportion of the PKU community.

We also believe that descriptions of the diet as “highly effective” and suggestions that there is “no failure of dietary treatment itself” are not borne out by the experience of PKU sufferers and families. We believe the diet “fails”, inasmuch as it entails real unacknowledged costs to the patient and their families. For example, the parental and clinical indoctrination from birth necessary to prevent a child from engaging in an essential human activity – the daily enjoyment of choosing and consuming a wide range of food – produces a reduction in the quality of the patient’s life. PKU children have to be trained from a young age to try and ignore the constant media messages about food (how many celebrity chefs are there on TV, how many food commercials?) Learning about food is an important part of a growing child’s discovery of the world, which has to be made uniquely fraught for PKU children. We believe that the NHS, when reaching its decisions, should be made fully aware of the psychological pressures of living in a world in which practically all mundane, readily available food presents a constant danger to full mental and physical health. They should also be aware of the central role food plays in developing socialising and bonding skills socialising and bonding skills with all the associated life opportunities that these skills bring with them. We also know that the teenage years are when compliance with the diet may start to weaken as a result of the necessary relaxation of parental control. The parental control required to ensure compliance throughout adolescence itself presents a danger to personal and emotional development. The diet can fail in the teenage years because, as brilliant, committed and strong-willed as PKU teenagers are, and however effectively influenced in childhood they have been, they are only human.

This remains very much the crux of the argument as far as Phedup is concerned. Since the licensing of Sapropterin as Kuvan in 2009, it has become commonplace for people with PKU to assume – in many cases because they have been told by clinicians and by the NHS – that ‘only a small minority of patients can benefit from Kuvan’ and that this minority comprises people with milder forms of PKU. We do not believe that it is possible for assertions like this to justifiably be made. Just because there is a simple method for dealing with PKU – i.e. protein restriction- does not make PKU a simple or even a single fully scientifically understood condition. Everybody’s PKU is as individual as that person’s genes, as individual, in facet, as that person. The greatest experts on metabolic conditions would concede that the book is not closed on our understanding of PKU. Yet you may be among the many patients and carers who have somehow been persuaded that treatment with Sapropterin/ Kuvan is not for you, because the NHS, working on a comparatively slender body of disparate academic studies, have asserted that in all probability it won’t work for you. So there is no point in testing you. It is obvious, though, that the only proof of the pudding is to have every person with PKU in the UK tested for responsiveness. The only way you will know whether it works for you is to be tested, whether you have mild or severe PKU. Phedup is also extremely happy that this long held position has now been vindicated by the European Guidelines for PKU treatment, revealed at the ESPKU Conference 2016, which state the principle that ‘Every Patient deserves consideration of BH4 responsiveness by genotyping or BH4 loading’, BH4 being the shorthand for Sapropterin/ Kuvan. The European Guidelines now enshrine the principle that you as a PKU patient have a right to know whether this treatment would work for you. It doesn’t include any caveat about whether NHS England thinks you’re worth the money.

As a corollary to this- if drugs companies are not able to get takeup of the first PKU drug in the UK by the NHS, they may decide not to try to launch later drugs here. This may have consequences for whether PEG-PAL is trialled in the UK, or whether it will even eventually be marketed in this country. Phed up is not prepared to wait and hope that the NHS will fund PEG-PAL, or any future treatment, we want to consolidate our established right to treatment now.

We believe that for the NHS this is the major consideration. The main reason PKU sufferers cannot have this drug in the UK is cost not efficacy. But the calculation of cost by the NHS takes for granted the sacrifices the diet entails for parents and sufferers. It accepts these wider costs to the patients and their families without recognition. The diet is comparatively “cheap” for anybody sitting on a funding committee who isn’t living under its strictures or enforcing its compliance. That is why Phed up needs as much support as it can get from parents and sufferers: without your support there is a real risk that a balance sheet approach, which remains content in its ignorance of the reality of daily dietary management, will withhold drug treatment for PKU far into the future.
There should also be room for negotiation over the price of new drug treatments. PKU is considered an orphan disease (i.e. a disease which has no treatment). The condition is so rare that the pharmaceutical company gets both tax breaks and an extended patent as incentives for developing a drug treatment. But the fact that it is rare means that such treatment will always be expensive, which means the NHS can be expected to refuse funding if no pressure is applied.

There should also be room for negotiation over the price of new drug treatments. PKU is considered an orphan disease (i.e. a disease which has no treatment). The condition is so rare that the pharmaceutical company gets both tax breaks and an extended patent as incentives for developing a drug treatment. But the fact that it is rare means that such treatment will always be expensive, which means the NHS can be expected to refuse funding if no pressure is applied.

Notes:
1. http://www.espku.org/wp-content/uploads/2016/11/ESPKU_Programme_2016_short.pdf
2. “The role of Sapropterin (Kuvan®) in the management of PKU in the NHS: considerations and prospects”, News & Views, Issue 133 Winter 2010/ 2011, pp.14-15.