Towards optimal PKU care in Europe: Patients’ perspectives

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  • ESPKU Annual Conference 2014, Zagreb, Croatia

    Ladies and gentlemen, dear patients, parents, delegates and professionals!

    First of all I’d like to thank the organisers for the opportunity to speak again at the occasion of an ESPKU Annual Conference. I have already had a presentation “on the way to consensus” two years ago in Liverpool, and today I will build on this presentation and tell you something about the consensus we have reached.

    End of last year we have published the ESPKU consensus paper in the Orphanet Journal of Rare Diseases (OJRD), headlined “Requirements for a minimum standard of care for Phenylketonuria: The Patient’s perspective”. This publication was an important step in our “Closing Gaps in Care” campaign.

    I had my first contact to PKU quite early. I was born on New Year’s eve 1966, and a few days later I was Guthrie-tested. This is documented is my certificate of vaccination. In those days this was not usual, because screening was not mandatory at that time in Germany. However, in the hospital where I was born, the Guthrie-test was carried out. The test was negative, everything was o.k. But you can imagine what would have happened, if I was born with PKU in another hospital – I would not be able to be here and speak to you today. When I was born, it was a matter of luck where you were born, and if a new-born was identified as a PKU patient in time before developing symptoms of the disease. This was a remarkable gap in care, in Germany and for sure in many other countries.

    Today, 47 years later, there are gaps in care, still. With our ESPKU benchmark report in 2012, we have identified remarkable inconsistencies across borders and even within countries. There are only a few guidelines, and these tend to be incomplete and implemented sporadically. Even today, the future prospect of a PKU patient – and a patient affected by any allied disorder – is highly depending on his or her birthplace. And this is not acceptable in Europe, in the 21st century.

    With the consensus paper, we urge healthcare professionals caring for people with PKU to take the lead in developing evidence based guidelines on PKU, while we continue to play an active role as the voice of patients and their families. Compared to some existing national guidelines, these guidelines shall not only reflect the least common denominator, but they should outline best practice experiences.

    One could say, there are plenty of scientific papers on PKU and on guidelines. That is true. Therefore, a paper, even written by laymen and non-professionals, must offer something special to be accepted for publication in a distinguished scientific journal like the Orphanet Journal of Rare Diseases. There are two outstanding characters of the paper: First, it is the first ever pan-European patient’s perspective. No one has done something like this before in PKU or for other rare diseases. Secondly, it really represents a European Consensus: A significant number of delegates and patients representatives have been involved in the development of this paper. Later, I will come back to this aspect.

    So let’s go a little bit more into the details of the paper: We all know that PKU is more than living on a diet and checking some blood PHE levels from time to time. A chronic disease means to work and fight constantly for a good outcome, from the very first beginning until the dying breath. It means to persuade and convince medical staff, insurance companies and public services of the every-day-needs, individually as well as collectively.

    With the ESPKU Consensus Paper we tried to briefly present the whole picture of PKU care and how it should be delivered from our patient’s perspective. The paper is a comprehensive presentation of patient’s expectations on a minimum standard of care. Let me briefly introduce the key messages of the paper:
    1. PKU is the same across borders. It is incomprehensible, that treatment strategies and monitoring is different from country to country or even within countries. European patients call for new standards of best practice that guarantee equal access to screening, treatment and monitoring throughout Europe.
    2. Without screening, there is no treatment. There shall be no discussion on a parent’s right to reject or even ignore screening on behalf of their child. Health policy must encourage parents to agree into this life saving and harmless examination. Some countries have decades of experience, in other countries screening has just recently been introduced. Screening protocols differ from country to country. European patients call for standardised screening protocols and interpretation of screening results throughout Europe.
    3. PKU is a rare disease. It is recognised, that only experienced and trained staff is able to deliver optimal care to patients. The word “metabolic centre” should be a sign of treatment quality. European patients require Centres of Expertise, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU.
    4. Life is different. Some patients need more support than others, especially in particular periods of life, such as before or during pregnancy. European patients call for especially intensive management, due to the severe risks to the foetus conferred by uncontrolled PKU.
    5. There are other groups of patients that deserve an adopted treatment: PKU patients may be off diet due to personal decisions or even due to medical advice in the early years of PKU treatment, which was based on the limited scientific knowledge at that time. We also shall not forget about those who have been late diagnosed and never received any dietary treatment. They also belong to us. One cannot implement a low protein diet and follow up, if a patient is not able or willing to comply. Nevertheless, the door to treatment should be kept open also for those people. European patients call for access to care optimally adapted to the individual coping abilities of all patients.
    6. The different economic situations across Europe and the high costs of dietary treatment represent a significant barrier in access to care, if not the most important barrier at all. In a European community of equal values, it should be a basic principle that no one is left behind who deserves social support. To ensure uniform access across Europe to guideline-driven, evidence-based care, European patients require reimbursement of all aspects of treatment.
    When the paper was submitted for publication to the editor of the OJRD, it was peer reviewed by two experts. The authors had never published any papers before. We did not expect statements such as: “This is a paper with outstanding merit and importance in its field.” Within a few days after publication the paper was ranked “highly accessed” in the OJRD.

    From a number of professional health care providers we received congratulations on the successful publication of the paper. It is not an exaggeration to say that the professional reactions on the paper have been surprisingly positive and remarkable. One example: Dr. Ursula Wachtel, who is in her 90s and still travelling the world for PKU, received the Asbjørn Følling Award from the European PKU Academy in 2013. She took this opportunity and presented the key messages of the paper to an audience of more than 200 scientists, and she called for cooperation of the entire society to close the gaps in care.

    To have a message is one thing. To make it heard is another. Together with the publication in the Orphanet Journal of Rare Diseases we have distributed a press release via PR newswire, which attracted high attention in the media. It was posted to the world leading news agencies and across Bloomberg equity terminals. We had coverage from English-language healthcare news publications all across Europe, including Evaluate Pharma and Biotech Finances, and from major news portals including Yahoo! News, Healthcare dive, Santé, Springer Medicines, Bolsamania and Medizin Aspekte.

    The press release received more than 10.000 online views within the first four weeks, including those from registered journalists and bloggers. It was most interesting, that the majority of citations happened in economic news portals, not in medical or health portals. This is another proof for the assumption that healthcare is more important in economical than in social politics. As a German with a historic conscience I will never accept any gaps in care that are based on a cost-benefit relation.

    Of course I am proud to be recognised as corresponding author of this publication, but this was associated with the rules for publication in the OJRD. A team of authors was responsible for the chapter contents and they all did a tremendous job: From the bottom of my heart I want to thank Paul van Berkel, Gregor Hammerschmidt, Marketa Lhotakova and Rosalia Pasqual Saludes for their enthusiasm and contributions. Together we are grateful to Francjan van Spronsen, Deniz Atakay, Timon Schaffer and Dinah Lier for their valuable editorial and content advice during the development of this review. After the production of the initial drafts by the authors, editorial assistance was provided by Dr. Mike Gwilt from GT Communications and Kathleen Duclos from Weber Shandwick. The most important input of course came from the delegates of 23 ESPKU member organisations, who contributed in three workshops in Warsaw, Gent and Antwerp. The review was supported by an unrestricted grant from Merck Serono.

    When we started this project in a delegate’s workshop in Warsaw, 2011, a guest from Brazil said: “You are making history here!” Well, the word “history” in PKU is occupied by celebrated characters like Følling, Bickel, Guthrie and some others. In this sense, we are far away from making history. Nevertheless, I think we have contributed an important step on the long way to more consistent care, to a better treatment quality and more equal access to care for all patients across Europe and in the world.

    For the first time ever, from their own perspective patients have documented their consensus on what they need as a minimum level of PKU care.

    They have delivered and called for access to a catalogue of different treatment aspects, for all patients, wherever they live.

    The paper was published in one of the leading scientific journals, the Orphanet Journal of Rare Diseases, and received high attention amongst healthcare professionals and the media.

    What will future bring? We expect a group of dedicated leading scientists in the field of PKU to deliver comprehensive international guidelines. In some countries initiatives are taken to revise existing guidelines or to set up new ones. The challenge on the journey to close the gaps in PKU care will be the implementation of the European international guidelines into national practice, and to include the patients’ perspective. Together with our member’s delegates, we will work on this during this Conference here in Zagreb. I hope that in a few years we can some first positive results.

    Thank you for your attention.

    Presentation by Tobias S. Hagedorn, Secretary of ESPKU and corresponding author of the ESPKU Consensus Paper “Requirements for a minimum standard of care for Phenylketonuria: The Patient’s perspective.”
    (Hagedorn et al. Orphanet Journal of Rare Diseases 2013, 8:191 ojrd.com/content/8/1/191)


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    author: Tobias Hargedorn

    This is the original speech of Tobias Hargedorn from the E.S.PKU Meeting 2014 in Zagreb.
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