Ensuring healthcare continuity

More needs to be done to ensure the proper transition of care for those suffering from PKU. Adult patients must not be forgotten, explains Seán Kelly.
Adobe stock

By Seán Kelly

Seán Kelly (IE, EPP) is the leader of the Fine Gael delegation in the European Parliament

01 Apr 2021

It is estimated that around a third of the global population will be affected by mental or neurological disorders during their lifetime. Studies published in 2014 show that brain disorders affect 179 million European citizens and that the costs associated with these conditions are close to €800bn each year.

So-called ‘Brain disorders’ come in many forms: the term covers a wide range of diseases and disorders, including, among others, Parkinson’s, Alzheimer’s, Huntington’s, stroke, epilepsy, narcolepsy, and multiple sclerosis.

“Brain disorders affect 179 million European citizens and the costs associated with these conditions are close to €800bn each year”

The majority of neurological disorders do not have a cure, and many are highly debilitating. Those that can be managed still have wide-ranging effects on the quality of life of patients. The effects are also strongly felt by families, carers and healthcare systems. In January 2020, after discussions with Neuroscience Ireland, I sent a written question to the European Commission highlighting the need for priority funding of brain research.

To make any breakthrough in understanding and treating brain diseases, massive investment is needed. Brain research received €3.2bn in investment in Horizon 2020. This investment supported both research projects and the development of EU and global collaboration on brain research. A coordinated approach is vital, as the mammoth challenge posed by brain disorders cannot be faced by any one Member State alone. We need to increase investment in brain research moving forward.

I would like to take this opportunity to raise awareness of Phenylketonuria (PKU), a rare and highly complex metabolic condition which requires lifelong treatment. PKU is an inherited disorder. To put it very simply, a person with PKU cannot break down the amino acid phenylalanine, as a particular liver enzyme does not function correctly.

A build-up of this amino acid can cause blood phenylalanine levels to become toxic. If left untreated, this can hinder brain development and lead to brain damage and physical disabilities. The amino acid phenylalanine is found in foods that contain protein. There are also medical methods of treatment, but treatment for PKU mainly consists of a strict protein-restricted diet for life. This means avoiding high protein foods such as dairy, meat, eggs, nuts and beans.

I am a member of the European Parliament’s Cross-Party Alliance on PKU. The first policy roundtable on PKU in the Parliament was held in July 2018. Our aim is raise awareness of PKU as well as the concrete policy actions that must be taken to improve the quality of life of those affected by PKU and their families. Adhering to the strict diet required to treat PKU comes with many difficulties. In some countries, it is difficult to come by foods that meet the requirements, or they are very expensive.

At national level, it is important to ensure access to affordable low-protein foods, and ideally to reimburse the cost of following this dietary therapy in a similar manner to medical therapies. At EU level, we can facilitate exchanges of good practice in these areas, as well as provide guidance on protein labelling rules. Following such a strict diet can also have a negative impact on the social life and mental health of a person affected by PKU. Newborn babies can be screened for PKU through a blood sample taken from a needle prick on their heel.

This screening allows for timely diagnosis and access to treatment, which greatly improves outcomes. Screening can take place not just for PKU, but for about 40 conditions. Screening of newborns is carried out in all Member States, but to varying degrees, with some only testing for five conditions. EU Member States have primary responsibility for health protection and healthcare systems, and this competence must, of course, be respected.

“PKU requires lifelong treatment. However, the focus is often solely on children and there is no structured transition to adult health services. As a result, many adults affected by PKU are either obliged to receive care in children’s hospitals, or they do not receive any follow-up care”

That said, initiatives like the EU’s Beating Cancer Plan and the EU4Health programme show that there is an increased interest in a degree of collaboration at an EU level, particularly in the aftermath of the COVID-19 pandemic. The Alliance on PKU is calling on the Commission to facilitate the exchange of good practice in the area of newborn screening, while respecting the principle of subsidiarity.

We are also calling on Member States to carry out reviews to ensure that every baby born in Europe is screened for PKU. Care should also be taken to ensure that immigrants are screened. As mentioned, PKU requires lifelong treatment. However, the focus is often solely on children and there is no structured transition to adult health services. As a result, many adults affected by PKU are either obliged to receive care in children’s hospitals, or they do not receive any follow-up care. Transition of care must be included in rare disease plans. Adult patients should not be forgotten. 

The Alliance on PKU is welcoming new members. If you would like to join the Alliance, endorse our Call to Action or simply learn more about our work, please get in touch with me or with E.S.PKU (the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria) www.espku.org

Share this page
Related articles