I have been working to improve the lives of those living and working with rare diseases for more than 30 years. I live with my mum Cindy, husband Sam, and daughter Danika Jayne, along the ‘Ards peninsula.
We have six rare diseases in our family and have been involved with multiple charities over the years, including our family founding the Muscular Dystrophy Group for Northern Ireland in the 1950’s and most recently participating on the Board of Directors for the Northern Ireland Rare Disease Partnership, where Cindy is a current board member.
There are approximately the same number of people affected by rare diseases across Ireland as there are living with diabetes, yet rare diseases receive much less recognition and support. I work closely with colleagues in government, Health and Social Care, the Public Health Agency, Universities, industry and charities to help improve the lives of people living and working with rare diseases.
More than 110,000 people across Northern Ireland are affected by rare diseases, rising to 450 million people globally. Rare diseases affect 1 in 17 people across all ages and communities. The 28 February is known as Rare Disease Day internationally; rare disease communities mark the day by getting together, hosting public events, and lighting up buildings in respect of those who live with these lifelong, complex conditions every day. Rare diseases often have a significant impact on people’s family, friends and work colleagues.
Our health and social care systems are not designed for rare diseases. Rare diseases cost the NHS more than £3.4 billion prior to diagnosis and many patients wait more than 10 years to get an accurate diagnosis, with the majority receiving at least one wrong diagnosis.
Some people never get a name for their rare disease. Our routine screening tools do not identify most rare diseases. Approximately 70% of rare diseases affect children, with 30% of those children dying before their 5th birthday. Most children who die in Ireland under the age of 15 years have a rare disease.
Rare diseases are often multisystem disorders and patients may see 10 different consultants regularly who rarely share information. Many people with a rare disease have lifelong complex care needs, with challenges exacerbated by the COVID-19 pandemic. 95% of rare diseases do not have an approved treatment and there are demonstrated health inequalities for the rare disease community.
Challenging mental health aspects of living with a rare disease are as important as physical aspects as they often go hand in hand in maintaining patient wellbeing; there is a serious lack of such mental health support available for rare disease patients. More than 80% of our local rare disease community believe most medical professionals do not have the correct knowledge to look after people with a rare disease.
While there is much work yet to be done, there has been considerable progress for our rare disease community in recent years. I run a rare disease research group within the Centre for Public Health at Queen’s University Belfast. In the last year we have provided dedicated rare disease teaching to undergraduate medical, science and nursing students, additionally providing postgraduate training to many professionals.
We have published toolkits and educational material for health and social care professionals. We have also reached out to schools and a wide range of community groups to help raise awareness of rare diseases.
State of the art genetic testing approaches, combined with new clinical decision-making tools, are shortening the diagnostic odyssey for patients with a rare disease. Innovative approaches such a decentralised clinical trials, offer more flexibility for patients with a rare disease and complex care needs, to benefit from emerging treatments as they can participate remotely or in their local community.
We are working with patients and families to develop better support mechanisms throughout their medical journey. We have published priorities for rare disease progress based on consultations with more than 2,000 people in our rare disease community across Northern Ireland. Top-ranked priorities were to establish a rare disease registry for Northern Ireland as well as an information and communication hub where patients and healthcare professionals could find relevant information.
Last year, the UK published a Framework for Rare Diseases that was agreed by our Minister for Health Robin Swann. This framework set out a national vision to improve the lives of people living with rare diseases. We are working with colleagues across the UK and Ireland to achieve this goal, with a focus on embedding the patient voice in national and international clinical research collaborations and delivering digital and technological innovations to help identify rare diseases more quickly.
We are looking forward to progressing the explicit targets detailed in our forthcoming Northern Ireland Action Plan for rare diseases in 2022. There are four broad priorities, including helping patients get a diagnosis faster, raising awareness of rare diseases among health and social care professionals, improving coordination of care and improving access to specialist care, treatment and drugs.
My mum Cindy says, ‘I am very much looking forward to getting out again and raising awareness of rare diseases among my local community. I think if we can talk more about rare diseases with children, then they will be more aware of rare diseases as adults.
My husband Sam says, ‘It is good to see my local council support international rare disease day. Councillors Robert Adair and Janice MacArthur have been strong supporters of our rare disease community and we appreciate the support of council members, lighting the town hall in recognition of Rare Disease Day.‘