Craigavon-based pharmaceutical company Galen Limited has joined calls for greater awareness of phenylketonuria (PKU) ahead of International PKU Day (28 June), with a County Armagh family sharing their experience of living with the rare inherited condition.
Chris Cassidy is speaking out about the impact of the condition on his 14-year-old son, Darragh, who was diagnosed shortly after birth through routine new-born screening.
Chris said: “PKU affects every aspect of daily life, from what you can eat to how you plan your day.
“Every meal needs to be carefully planned and weighed to manage protein intake, and even everyday situations like birthday parties or eating out can become a source of stress.
“While managing the condition eventually becomes routine with the help of specially formulated protein substitutes, it never becomes easy.
“There is real hope around new treatments, but for families like ours, access to such emerging treatments, for PKU patients across the UK, is everything.
“We believe that awareness is an important first step in helping people understand what living with PKU really means.”
Around one in 4,000 babies born in Northern Ireland are diagnosed with PKU, compared with around one in 10,000 across the UK.
All babies are offered this routine heel prick test at around five days old to screen for several conditions, including PKU – although many parents may be unaware of exactly what it tests for.
PKU is a rare inherited metabolic disorder which affects the body’s ability to break down phenylalanine, an amino acid found in many everyday foods.
Without careful management, it can lead to serious neurological complications. As a result, patients must follow a strict low-protein diet for life, with families carefully monitoring food intake daily.
They typically require a protein substitute to supplement their daily intake.
Chris, who is a member of the NSPKU charity, has also been involved in raising awareness of the condition at Westminster, calling for improved access to emerging treatments for PKU patients across the UK.
He explains: “Dietary management remains the mainstay of treatment for PKU, usually involving a lifelong low-protein diet, prescribed protein substitutes and regular monitoring.
“More recently, new therapies have brought cautious optimism, however, access for UK patients will depend on separate regulatory and NHS assessment and funding processes.
“Alongside patient voices, healthcare expertise and ongoing innovation remain key to improving care and outcomes.”
Dr Sarah Dolan, Associate Director of Medical Nutrition at Galen Ltd, said: “International PKU Day is an important opportunity to raise awareness of the condition and the realities faced by patients and families.
“At Galen, we are building on an established medical nutritional range to help manage rare metabolic diseases, with a long-term focus on supporting patients and healthcare professionals.
“While we are evolving our brand and positioning for the future, our commitment to this community is unchanged — and our work continues to focus on innovating not just in products, but also in the support and resources that help make living with conditions like PKU more manageable.”
Galen works alongside healthcare professionals and the wider community to support improved understanding and management of rare metabolic conditions and is committed to working with patient groups such as NSPKU to better understand lived experience and evolving needs.
As International PKU Day approaches, there are growing calls to build greater awareness of the condition, while ensuring that advances in treatment can be translated into real-world benefits for patients.
