‘Every meal needs planned and weighed’: Family shares reality of life with rare condition affecting babies in NI

Darragh pictured with his mum Fiona, sister Emily and dad Chris.

A County Armagh father has spoken candidly about the daily realities of raising a child with a rare inherited condition that affects significantly more babies in Northern Ireland than elsewhere in the UK, as calls grow for greater awareness and improved access to emerging treatments.

On International PKU Day (Sunday 28 June), Craigavon-based pharmaceutical company Galen Limited has joined patients, families and campaigners in highlighting the challenges faced by people living with phenylketonuria (PKU), a lifelong condition diagnosed through routine newborn screening shortly after birth.

For the Cassidy family from County Armagh, PKU is not something that occasionally impacts life — it shapes almost every decision made each day.

A diagnosis that changes daily life from the very beginning

PKU is a rare inherited metabolic disorder that prevents the body from properly breaking down phenylalanine, an amino acid found in many foods containing protein.

Without careful management, a build-up of phenylalanine can lead to serious neurological complications and long-term health problems.

The condition is identified through the routine newborn heel-prick screening test offered to all babies in Northern Ireland at around five days old.

Although the test screens for a number of serious conditions, many parents remain unaware that PKU is one of them.

Around one in every 4,000 babies born in Northern Ireland is diagnosed with PKU, making it considerably more common locally than across the wider UK, where the condition affects approximately one in every 10,000 births.

For families receiving the diagnosis, life changes immediately.

‘It never becomes easy’

Chris Cassidy’s son Darragh was diagnosed shortly after birth and is now 14 years old.

While more than a decade has passed since that diagnosis, Chris says the challenges of living with PKU remain a constant part of family life.

“PKU affects every aspect of daily life, from what you can eat to how you plan your day,” he explained.

“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.”

Unlike many other medical conditions that can be treated with medication alone, PKU management relies heavily on strict dietary control.

Patients must follow a low-protein diet for life, with families carefully monitoring food intake every day.

Specially formulated protein substitutes are typically required to provide the nutrition that cannot be obtained through conventional foods while keeping phenylalanine levels under control.

Growing hope around new treatments

While dietary management remains the cornerstone of treatment, families affected by PKU are increasingly looking towards new therapies currently emerging internationally.

For Chris and many others, access to those treatments could prove life-changing.

“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,” he said.

“We believe that awareness is an important first step in helping people understand what living with PKU really means.”

Chris, who is involved with the National Society for Phenylketonuria (NSPKU), has taken that message directly to Westminster as part of campaigns seeking improved access to future treatments for patients throughout the UK.

He said dietary management continues to be the mainstay of care, involving lifelong low-protein diets, 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,” he explained.

“Alongside patient voices, healthcare expertise and ongoing innovation remain key to improving care and outcomes.”

Local company backing awareness campaign

Craigavon-headquartered Galen Limited says International PKU Day provides an opportunity to shine a spotlight on a condition that remains unfamiliar to many despite being detected in newborn screening programmes.

Dr Sarah Dolan, Associate Director of Medical Nutrition at Galen Ltd

Dr Sarah Dolan, Associate Director of Medical Nutrition at Galen Ltd, said raising awareness remains essential both for families living with the condition and for healthcare professionals supporting them.

“International PKU Day is an important opportunity to raise awareness of the condition and the realities faced by patients and families,” she said.

“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.”

The company works alongside healthcare professionals, patient groups and organisations including NSPKU to better understand the experiences of those living with rare metabolic disorders and how support can continue to evolve.

What is PKU?

Phenylketonuria is one of several rare metabolic disorders that require specialist nutritional management throughout life.

Other conditions requiring similar dietary treatment include:

• Maple Syrup Urine Disease (MSUD)

• Tyrosinemia (TYR)

• Urea Cycle Disorders (UCD)

Galen Medical Nutrition, a subsidiary of Galen Limited, develops specialist medical foods designed to support the dietary management of these conditions.

A rare condition that deserves greater understanding

Although PKU remains rare, the condition affects proportionately more families in Northern Ireland than in many other parts of the UK.

For parents, diagnosis begins when their baby is only days old. For patients, management continues every day for life.

Marking International PKU Day, families, healthcare professionals and patient advocates are united in a simple message: greater awareness, improved understanding and access to future treatments could make a profound difference to the lives of people living with PKU both locally and across the UK.