Eric Lange talks about the changing role of patient organisations

Modern patient organisations go beyond supporting their members and providing advocacy. They are the centre of a network that links patients, medical professionals, industry, politicians and decision-makers, Eric Lange , President of ESPKU - the European Society forPhenylketonuria and Diseases Treated and Phenylketonuria argues.

Mr Lange spoke to us just before the 2014 Annual Multidisciplinary European PhenylketonuriaSymposium – PKU: a lifetime of challenges. Although he describes himself as ‘just a humble accountant’, he has played a key role on the management committees of both the National Society for Phenylketonuria (NSPKU) in the UK and the ESPKU.

Eric Lange’s involvement with PKU began thirty years ago with the birth of his child. ‘I remember the day I learned of my daughter’s diagnosis vividly,’ he told us. ‘It was a Friday afternoon at a quarter past six. I was walking home from the station and I saw the doctor walking away from my house. When I got to the front door, I saw my wife and my son, sitting on the stairs crying their eyes out. The weekend was spent phoning friends and colleagues who had knowledge of metabolic disorders and could tell us something. This was the 1980’s, so checking on the Web wasn’t an option. It was Monday before we were able to see anyone at the hospital. We were told, “Yes, you can relax a bit more,” and that with the PKU diet, the outcomes are very good PKU.”

Thanks to the Internet it is now much easier for parents to access information about PKU. But, have physicians changed the way they deliver diagnoses in response to what parents have told them, we wondered. ‘Today, physicians are far better trained, ‘Mr Lange told us. ‘Guidance from psychologists and the voices of patients’ families have been heeded. It’s now generally accepted, for example, that parents should not be given a diagnosis on a Friday afternoon but instead should be told earlier in the week. This means they can be supported and can ask the question “Will my child be alright?”

There have been many changes in the way patient organisations and the medical/ scientific establishment work together over recent decades. Had the ESPKU’s role changed, we wondered. ‘Since its inception in 1987 the ESPKU has developed its role as an umbrella body for patient organisations throughout Europe’ he said. ‘We have members from over 30 countries, both within and outside the EU. We’re not overly concerned about geography: if your country has a patient organisation we want to hear from you. We believe we can help you close your gaps in care and you can help us improve knowledge of PKU with policy-makers and the public. Together, there’s synergy: two plus two equals five.

‘We have an effective board that works well together,’ Mr Lange continued ‘We all “sing from the same hymn sheet”. I’m pleased to say that three members of the board, 50% are people with PKU. It is important that we have active engagement from people who actually have PKU. We have a scientific committee of three experts who are dedicated to helping us if we need guidance on the treatment and perceptions of treatment. We communicate on a regular basis with industry and have good relationships across the spectrum, with pharmaceutical companies, food producers, amino acid producers, etc. We also have a good relationship with all patient organisations with PKU throughout Europe and belong also to EURORDIS , the voice of rare disease patients in Europe and EPPOSI , a think-tank on the treatment of rare diseases and chronic diseases throughout Europe.’

It is one thing to link patients, the scientific community and decision-makers, but it’s a big step to go from that to taking a lead on a major initiative such as the development of European guidelines for the diagnosis and care of PKU. What made the ESPKU start this process, we asked.

‘We knew from what we’d learned in producing our report “Closing the Gaps in Care” (2011) that there were, just by looking at five countries, so many differences in care offered in those countries and in each there were gaps in care,’ Mr Lange said.

‘This raised the question, “How do we close these gaps in care? What do we want? What do we want as a European society? What do our delegates want to see in the treatment of PKU?”

‘So from the initial report we produced a European consensus paper (2013) which all the delegates were signatories to in one of the delegate meetings in 2012. This was a way to let the scientific community know what our perception was of the “Gold-standard” in treatment of PKU. From the consensus, the conclusion was that we need those people who are experts in PKU: dietitians, or nutritionists; metabolic, paediatric, adult consultants or maternal PKU consultants and so forth, to produce guidelines for optimal care.

These will allow us, when we come to discuss things with policy-makers in countries or at EU level, to say: “Here are our guidelines, produced by experts in the field of PKU.” We will have integrity to our arguments because we have these guidelines underpinning them. We, or our member associations can go to health-providers and say “These are the guidelines, why aren’t you providing care to these standards?”

With so much variation in the care offered to patients in different countries and the difficulties in establishing a strong evidence-base for making decisions, no one thought this was going to be an easy process. How, we asked, is it progressing?

‘Work on the guidelines started in 2012 and initially the estimate was that they would be completed in 24 to 28 months,’ Mr Lange said. ‘I think however, that the questions that the guidelines groups have been asking have opened up Pandora’s Box, so I think realistically it will be 2015 before they are ready. However, we hope to have a broad outline by the end of this year [2014]. The people involved with the project, and I take my hat off to every one of them, were carefully chosen.

‘Before they joined the project, they were all renowned experts with numerous publications to their names. However, I think now it would be fair to say that, and I’m sure they would agree with me, they are now SUPER-experts in PKU. Together, and in sub-groups, they have reviewed just about every salient paper on PKU that has ever been published and they have discussed the best way forward in their field of expertise.

Once the guidelines are complete, what will happen next, we wondered. ‘The guidelines will have to be revisited on an annual or biannual basis to be updated because there will always be more evidence, more data available to put forward and add as addenda. So, I’m quite confident that the guidelines will produce a very good solid platform for the treatment of PKU in the future.

With so much partnership-working with the medical/ scientific community, is the traditional role of a patient organisation with regard to lobbying this particular group still important, we wondered.

‘The medics, the professionals and the scientific community do a great job in the round,’ said Mr Lange. ‘But they do not live with rare diseases and, more importantly from our perspective, they don’t live with PKU. So they need to be told what it’s like, they need to understand how difficult it is to come to terms with PKU and also to learn about responses to high levels of Phe in the blood. Where I think patient organisations can take the lead is to bring patients and the medical profession together and to galvanise people involved on both sides; produce that energy to push forward care and treatment.’

Mr Lange continued, ‘I think that the advocacy role of patient groups has expanded somewhat. It’s not just about “fronting-up” to politicians and policy-makers when there’s a particular campaign issue; as happened in the UK a few years ago where a drug was denied to the patients because of cost. I think it’s gone a bit further than that. Advocacy now means keeping on friendly terms with health attachés, informing policy-makers and members of parliaments (national and European).’

Is there a danger that by concentrating on this kind of strategic role, there are fewer resources available for engagement with the public at large, we asked. ‘This was something that came up in our delegates’ meeting recently in Antwerp. Yes, we definitely need to have activities that appeal to the general public and raise awareness of PKU. So, this year we will be holding the first “International PKU Day.” It was originally going to be European PKU day but the idea has proved popular and it’s been taken up around the world. We’ve picked June 28th 2014 for the first one. This is quite a special day because, not only is it nicely in the middle of the year but also, it is the birthday of two stalwarts of PKU, Robert Guthrie (1916-1995) and Horst Bickel (1918-2000).’

With so much progress to report, are there any campaign battles left that still need to be fought. What, we asked, are the biggest concerns at the moment?

‘Obviously we would like all treatment, in every country, to be free.’ Mr Lange admitted, ‘But that is unlikely to happen. The issue of reimbursement is a delicate one, whichever country you go to, not just in Europe but the World.

‘There are countries that still don’t have 100% newborn screening. Some of these are new countries that have come about by the breakup of Yugoslavia or the USSR and so they are still in the process of establishing their health infrastructure. However, some countries are simply stating that PKU is not a problem and therefore doesn’t require attention. In these countries we only identify PKU patients if they have sent blood samples abroad for testing. This is something we need to focus on as there’s still a lot of work to be done here. One of the reasons why we are going to the Balkans this year for our conference is to cement our relationship with the patient organisations there and also to help them develop and progress a good relationship with their health providers.

‘I am also concerned about the cohort of untreated or late-treated PKU patients. This group, which could be 30% of the PKU population, tends to get marginalised and yet can be helped if they are diagnosed and given treatment. We can offer very real improvements to the quality of life of these patients with diet and other treatments now available.

‘There is one other thing that I feel needs to be brought to the fore,’ said Mr Lange. ‘There is a small minority of consultants who believe that for some patients it is okay to come off diet at 18,19 or 20 years-old because in their opinion there is no evidence to suggest that coming off diet will impact the patients. I think this is dangerous and certainly as a parent of a PKU child, I would like to turn that around and say “Give me evidence that coming off diet won’t have a negative outcome” before taking the chance.

‘I am excited about the future because there’s such a lot going on. I am very excited about the guidelines, and by the fact that these guidelines will be revisited on a regular basis thereafter. I am also excited about International PKU day and what our patient organisations are planning for that time of year.

‘The thing we all have to remember is that the most important things are simple. The board of the ESPKU operates on a K.I.S.S. (keep it simple, stupid!) philosophy and in this wonderful world of technology and so on and so forth, the computers, the mobile phones, the tablets, etc. we need to remember how one simple thing can prevent disability, and that’s a piece of blotting paper.’