Transforming care for Huntington’s disease in Ireland: From invisibility to outreach

The ongoing work in Ireland on improving service provision for Huntington’s disease is a blueprint for how to transform invisibility into inclusion, despair into dignity, and care into connection

Huntington’s disease (HD) is a rare but devastating hereditary condition that affects families across generations. For decades, the absence of a coordinated national service has left many Irish families struggling in silence. Now, a pioneering advanced nurse practitioner (ANP) led service provides a model to transform care delivery and turn invisibility into inclusion.

The science and the hope

HD is an autosomal dominant, neurodegenerative condition that typically presents between the ages of 30 and 50 years, although 5-to-10 per cent of cases can present in juvenile years, similarly in the older population. It progresses over 10-to-25 years, culminating in profound physical and cognitive decline. Death often results from aspiration pneumonia, falls, or complications of immobility. Suicide is estimated to occur in those with HD at three times the rate of the general population. Each child of an affected parent has a 50 per cent chance of inheriting the pathogenic huntingtin (HTT) gene variant, making HD a familial condition that impacts multiple generations.

In 1993, the discovery of the HTT gene provided a breakthrough in understanding the molecular basis of HD. The mutation causes abnormal repetition of the CAG trinucleotide, resulting in a toxic accumulation of mutant huntingtin protein and progressive neuronal death, beginning in the striatum and eventually affecting the entire brain.

This discovery, driven by the extraordinary dedication of at-risk families such as that of US HD research pioneer Prof Nancy Wexler, who herself carried a 50 per cent genetic risk, opened the door to decades of genetic and therapeutic HD research. More than 22,000 family members have since contributed to large-scale observational studies such as Enroll-HD, vastly expanding the scientific understanding of HD mechanisms and therapeutic targets.

Recently, uniQure’s AMT-130 HD gene therapy has shown early promise, demonstrating a 75 per cent slowing of disease progression over three years in a small phase 1/2 trial cohort. This novel therapy uses an adeno-associated viral vector to deliver microRNAs designed to suppress production of both mutant and normal huntingtin proteins. While the findings are encouraging, they must be interpreted with caution: The trial was not placebo-controlled, sample size was limited (n=30), and the intervention involves a 12-to-18 hour neurosurgical procedure. Costs are likely to be substantial. Nonetheless, the trial represents a historic moment – the first signal of a potentially disease-modifying treatment in HD and a tangible reason for cautious optimism. HD clinical trial activity has increased in recent years with further potential therapies in different stages of development.

The human reality

Beyond the promise of emerging science lies a stark human reality. HD causes a form of dementia that initially affects concentration, thinking, and decision-making, progressing to severe cognitive rigidity and loss of self-awareness. Psychiatric and behavioural symptoms, such as irritability, aggression, impulsivity, and obsessive behaviours, coexist with progressive involuntary movements that ultimately impair speech, swallowing, and mobility.

The disease does not affect individuals in isolation. Young family members grow up under the shadow of their own genetic risk, often taking on caring responsibilities for an affected parent and witnessing their own possible future. Carers, frequently partners, siblings, or adult children, provide full-time, complex care while navigating financial strain, emotional exhaustion, and anticipatory grief. Some families have endured multiple generations of HD, with care needs stretching across decades.

Pre-implantation genetic testing (PGT) offers one means of breaking this hereditary chain, enabling parents to have children free from the HD mutation. Yet, in Ireland, the prohibitive cost of PGT renders it inaccessible to most families; an inequity not mirrored in other European countries.

A hidden population

Epidemiological estimates suggest that approximately 1,122 people in Ireland carry the genetic change that causes HD, with 731 symptomatic, 391 pre-manifest gene-positive, and over 3,000 more at risk. At least 700 family carers provide day-to-day support. Despite this, the absence of a dedicated service in the Republic of Ireland has left many families feeling invisible within the healthcare system.

Fear of genetic discrimination, stigma, and the absence of coordinated specialist care have contributed to a low uptake of predictive testing, delayed diagnosis, and misdiagnosis. Consequently, many individuals present late in the disease course, when opportunities for intervention, support, and planning are already diminished. Misdiagnosis, fragmented referrals, and crisis-driven care are common, representing a poor use of health and social care resources.

A model for change

Since April 2024, Ireland has, for the first time, a dedicated national HD nursing service – a milestone in equitable, person-centred care. Based at Beaumont Hospital and led by ANP Orla Russell, with consultant support from Prof Orla Hardiman, Consultant Neurologist, Beaumont Hospital; and Dr Deborah McIntyre, Consultant Neurologist, St James’s Hospital/Mater Hospital – Inclusion Health Service; and working closely with the Huntington’s Disease Association of Ireland, this service marks a turning point in how Ireland responds to one of its most complex neurodegenerative diseases.

This pioneering service delivers person-centred, outreach-based care to individuals and families who were, until now, largely invisible within the health system. The ANP provides direct clinical input across a wide range of settings, including:

▶ Home visits for patients with advanced disease or severe mobility limitations.

▶ Long-term care facilities, providing staff education, care coordination, and multidisciplinary review.

▶ Community clinics, offering post-diagnosis education, counselling, and collaborative care planning.

▶ Homeless services and prisons, ensuring equitable access to specialist care for vulnerable populations.

A monthly joint clinic led by the ANP and consultant neurologist now manages an average of seven new referrals per month, alongside an expanding number of follow-up appointments. As awareness of the service grows, so too does demand – reflecting the scale of previously unmet need across the country.

This nurse-led model exemplifies advanced practice nursing in action: Autonomous, evidence-informed, and grounded in holistic, family-focused care. It bridges the gap between acute and community settings, providing continuity, advocacy, and early intervention – preventing crisis situations and avoidable hospital admissions.

From a policy perspective, the service serves as a proof of concept for how a national, community-oriented approach can transform outcomes in rare neurological conditions. It aligns closely with the HSE’s Sláintecare principles of integrated, person-centred care and offers a scalable, sustainable framework applicable to other neurodegenerative conditions.

At its core, this model embodies responsiveness, flexibility, and humanity in the face of a devastating illness. It demonstrates that care for people with HD can, and should, extend beyond hospital walls into homes, communities, and the fabric of everyday life.

Ireland’s HD nursing service represents a paradigm shift: From fragmented, reactive care to integrated, proactive, and dignified support. It is a model that does more than treat disease; it restores visibility, voice, and value to those living with HD.

Looking forward

If we compare Ireland’s population with that of Scotland, both approximately five million, the contrast in HD service provision is stark. Scotland operates seven multidisciplinary teams, each with dedicated HD nurses and community support workers. In contrast, Ireland, currently relies on one ANP with two supporting neurologists providing national coverage.

This imbalance highlights the scale of unmet need and the urgent requirement to adequately resource this service. Expanding this model across Ireland would significantly enhance outcomes for patients and families, while also alleviating strain on the wider health system. Early intervention, proactive management, and continuity of care can prevent crisis situations, and reduce prolonged hospital admissions.

For children growing up in HD families, seeing their parent receive compassionate, competent care restores hope and reduces fear of their own potential future.

Huntington’s disease remains a devastating condition, but it is not hopeless. The combination of scientific progress, clinical compassion, and patient advocacy has the potential to reshape its trajectory. The work begun in Ireland is a blueprint for how to transform invisibility into inclusion, despair into dignity, and care into connection.

The Huntington’s Disease Association of Ireland provides information and support to individuals and families impacted by HD. See www.huntingtons.ie for details.