In memory of Robert Guthrie and Horst Bickel, who both were born on June 28, we celebrate International PKU Day every year on this date. With the development and implementation of newborn screening and nutritional therapy, they pioneered to free people living with Phenylketonuria from the darkness of the unavoidable fate of mental disability. The objective of International PKU Day is to shed light on the still existing unmet needs of people living with PKU. This date is the opportunity to lend them voices and faces and to open the eyes and ears of the public for their biographic experiences. ‘Shades of PKU’ – this theme of this years’ social media campaign for International PKU Day perfectly symbolises the diversity of these challenges, which people with PKU face every day throughout their lives and that still remain largely invisible.
From parental stress of the diagnosis, worries about future and feelings of frustration and guilt at repeated dietary failures, to inadequate nutritional education, eating disorders and neurological symptoms, and not ending with the economic and systemic barriers to accessing appropriate health and social care – the list of individual consequences of PKU and PKU treatment go far beyond these few examples.
However, the misconception remains that PKU can be solved by dietary control of phenylalanine blood levels. It is this myth that over and over again hampers or even prevents us from access to adequate healthcare. It is this false interpretation that makes it more likely for our perspectives to be neglected in political decisions about the frameworks of our health care systems – decisions that are not only being taken in national parliaments or agencies, but increasingly at the EU level. This is why since our foundation, the E.S.PKU always has been and still is raising voices in EU politics, having a direct impact on the lives of people with PKU.
Already back in the 1990s, the ESPKU lobbied the European Commission to have phenylalanine-free protein supplements categorised as ‘Food for Special Medical Purposes’ (FSMP) and not just as food supplements. This important distinction has significantly contributed to the reimbursement of these vital products by most European healthcare systems.
For the daily management of their nutritional therapy, PKU patients must have access to low phenylalanine special food. Some time ago, in the context of the EU health claims regulation, the E.S.PKU negotiated with the EU Commission and helped to secure that these products can still be marketed as ‘Low Protein’ front of pack and maintain the quantitative phenylalanine-labelling back of pack.
Over the last two decades, some first pharmaceutical therapies have been developed for PKU. However, access to these innovations varies significantly across Europe, partly because their benefit is differently assessed. A joint EU Health Technology Assessment may contribute to reduce these inequalities. The E.S.PKU will utilise their political networks to safeguard, that more swift access for some communities does not come at the expense of worse access for others.
Currently, many pipeline projects on innovative therapies provide hope to the PKU communities that some of their unmet needs can potentially be covered. However, this ‘window of opportunities’ could soon be closed if PKU is deprioritised in the allocation of incentives for research and development of orphan drugs. Thus, the E.S.PKU urges both the EU Commission, the EU Parliament and the EU Council of member states to avoid a too narrow definition of unmet needs in the current reform of the EU pharmaceutical legislation. If – hypothetically – PKU was actually solved through dietary control of blood Phe levels alone, there would likely be no incentives and thus no development of innovative and advanced therapies – neither for the EU and certainly not for non-EU countries.
Actually, this most recent example of E.S.PKU’s political work demonstrates how important our storytelling is to make our diverse unmet needs heard and their many shades visible also for decision makers, and to avoid our lived experiences are neglected. After all, the truth is inherited in our biographies: The impact of PKU goes far beyond dietary control of phenylalanine blood levels. ‘Shades of PKU’ provides the authentic real-world evidence.