ILC’s new Senior Research Fellow, Jack Eddy, gives a personal perspective on what it’s like to navigate life in the UK with a rare disease like Achalasia. 

It is estimated that there are 3.5 million people living with a rare disease in the UK. Affecting 1 in 17 people, rare illnesses, therefore, are not that rare. Living with these conditions means navigating countless challenges, but there’s one issue rarely spoken about: growing older. Medical and technical advances, providing more understanding and treatments, has meant that many people with rare diseases are able to live longer and potentially better with illnesses that may not have been understood or survivable in the past. Despite these advances, ageing with a rare or chronic illness remains an overlooked aspect of healthcare policy and practice.

My personal journey with achalasia, a rare disease principally affecting the oesophagus, vividly underscores this oversight. Initially misdiagnosed, I was eventually correctly diagnosed in late 2009 after several years of symptoms, receiving some immediate corrective surgery in early 2010. My experience after this urgent intervention appears to be typical – I was offered no guidance, no aftercare. Instead, I was expected to navigate things alone, rebuilding from the ground up. In all this time, I have rarely thought about the future – about what it would mean to grow older with this disease.

My experience, I now realise, was not unusual. Research conducted by Achalasia Action shows that most individuals endure years of misdiagnosis, anxiety, and frustration before finally obtaining clarity. The isolation, misunderstanding, and medical gaslighting faced by patients add emotional burdens on top of physical suffering. All this inevitably means that people with achalasia focus on the ‘here and now’, rather than consider what support they might need as they age.

In this, a hurdle looms large: there is a notable absence of structured support as we age. Initiatives such as the UK’s Rare Diseases Framework and subsequent Action Plan have aimed to improve diagnosis and ongoing care – although evidence suggests that this has not been achieved – yet they lack explicit consideration of longevity. They do not recognise the complexity of ageing with rare conditions – how symptoms evolve, how management strategies change, and how life-long health maintenance requires tailored and proactive care.

Research repeatedly highlights lower quality of life among older adults living with rare diseases, noting increased isolation, reduced mobility, and significant mental health impacts. Yet, despite this evidence, longevity remains largely absent from policy discourse. Healthcare systems must evolve to support all ages effectively, reinforcing the urgency of embedding longevity into rare disease policy.

As someone who’s spent over a decade navigating life with achalasia largely unaided by structured healthcare support, I can confirm that the challenges deepen over time. Persistent symptoms – pain, difficulty swallowing, social issues, and daily life disruptions – don’t disappear; they evolve. Without age-specific support, quality of life diminishes sharply. We must recognise that people with rare diseases aren’t static; they grow older, and their healthcare needs grow with them.

It’s time for a new Rare Disease Strategy, one that not only learns from past shortcomings but places longevity and ageing explicitly at its heart. Such a strategy must be developed collaboratively, with direct input from patient groups, like Achalasia Action, and ageing policy experts like ILC. Only by acknowledging that people with rare conditions age, and actively planning for that ageing, can we ensure dignity, inclusion, and comprehensive care.

Let’s not wait another decade to realise this vision. It’s time for change, and it must start now.

References:

• Genetics Alliance – Facts and Figures: Facts and figures – Genetic Alliance

• Department of Health and Social Care. (2021). UK Rare Diseases Framework. Available at: https://www.gov.uk/government/publications/uk-rare-diseases-framework

• Department of Health and Social Care. (2022). England Rare Diseases Action Plan. Available at: https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2022

• Orphanet Journal of Rare Diseases. (2024). Quality of Life in Rare Diseases. Available at: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03327-2