The meeting was opened by Nick Meade, Director of Policy at Genetic Alliance UK who welcomed guests and spoke about the extra challenges faced by the rare disease community. The pandemic has meant that NHS treatments have been cancelled or postponed, home and education support has been suspended or limited, diagnoses have been delayed and new uncertainties have been added to lives that already have quite enough uncertainty in them.
There have, however, been opportunities and this year the UK Rare Diseases Framework was published with four priorities; diagnosis, awareness of rare diseases among healthcare professionals, care coordination, and access to therapies. The challenge is to get the most out of this opportunity. As part of the UK Rare Diseases Framework, each nation will publish an Action Plan that must be comprehensive and ambitious.
Bob Doris MSP, Convener of the Cross Party Group on Rare, Genetic and Undiagnosed Conditions also noted the unprecedented challenges that Covid-19 has brought. Bob is hopeful that the UK Rare Diseases Framework and the subsequent action plan in Scotland would bring about real change for people living with rare conditions.
Sophie Dow talked about her daughter, Annie, who has a rare chromosome deletion. Sophie knew early on that something wasn’t quite right, but it took 13 years to get a diagnosis. Annie is a happy, loving and humorous individual who loves her life. Behind every rare disease is a human being who has the right to a dignified life.
Mairi Gougeon MSP, Minister for Public Health and Sport, spoke about the progress that had been made in Scotland since the publication of the UK Strategy for Rare Diseases but notes that we must not lose momentum. She said that Scottish ministers had welcomed the opportunity to collaborate with their UK counterparts to develop the UK Rare Diseases Framework. It was also announced that a new Rare Disease Implementation Board would be established to oversee the delivery of the Framework, and that officials will work closely with patient organisations to ensure the lived experiences of people living with rare conditions are taken into account.
Liz Twist MP, Chair of the APPG on Rare, Genetic and Undiagnosed Conditions noted that it is vital that we raise awareness of rare conditions as the lived experience of those with rare conditions continues to be difficult. She shared the difficulties of people affected by phenylketonuria who have been waiting 12 years to access a life-changing treatment. Liz recognised that some progress had been made with the UK Strategy for Rare Diseases but that much remained unfinished, and in many ways we need the new Framework now more than ever. Finally, she called for four collaborative Action Plans that deliver the best possible outcomes for people living with rare conditions across the UK.
Dr Genevieve Allum spoke about her experience living with Myotonic Dystrophy Type 1. She challenged people’s idea that because a condition is rare it might be considered unimportant, but how rare is a disease that affects 50% of your relatives? The future can be scary for those living with a rare condition. Being told you have a chronic progressive disease that has no cure and can lead to disability and premature death is devastating. Dr Allum called for a change in our approach to rare diseases: more discussion needs to be had in medical school; everyone needs access to the same level of care for their condition, removing the unfair advantages of luck, money and knowledge; and, most importantly we need to invest in our NHS so that those working within it are better equipped to deal with rare conditions.
Lord Bethell, Parliamentary Under Secretary of State at the Department of Health and Social Care, also spoke of the challenges in rare diseases; there are over 7,000 and it can be difficult to incentivise innovation in small markets. However, rare diseases continue to be an important area for the Government, which is why they coordinated the development of the UK Rare Diseases Framework. He also noted that beyond the Framework, the Innovative Medicines Fund would allow doctors to use highly advanced medicines.
Angela Burns MS, Chair of the Cross Party Group (CPG) on Rare, Genetic and Undiagnosed Conditions launched a report from the CPG. The report has four key priority areas to highlight to the Welsh Government; mental health, access to rare disease medicines, the impact of Covid-19 on the rare disease community, and the lessons learned in recent years. This report will help feed into the Welsh Action Plan to implement the UK Rare Diseases Framework.
Attendees heard from Hayley Cleaver and Emma Fitzpatrick who both shared their experience of living with Turner Syndrome, a chromosome abnormality affecting only females. Hayley noted that living with the syndrome can be isolating and lonely. Travelling to different medical appointments can be stressful and are all the more challenging when travelling on public transport in rural Wales. She called for a multi-disciplinary approach in treating rare diseases. Emma also echoed this call, stating that care for Turners in Wales was not as comprehensive or coordinated as it should be. Moreover, a late or non-diagnosis can lead to missed opportunities as patients may not receive the support or adjustments that they require, ultimately leading to a poorer quality of life.
We were disappointed the Welsh Government chose not to input into the meeting and that Baroness Eluned Morgan, Minister of Mental Health, Wellbeing and Welsh language pulled of out contributing at short notice. We were pleased, however, that Dr Graham Shortland, Chair of the Wales Rare Disease Implementation Group was able to step in and inform attendees of the progress in rare diseases care and treatment in Wales.
We were pleased to work with the Northern Ireland Rare Disease Partnership (NIRDP) to deliver the final part of the virtual meeting. Mark H Durkan MLA, Chair of the All Party Working Group for Muscular Dystrophy, noted that the implementation of the UK Rare Diseases Framework would need to lead to tangible improvements on the ground and that it was vital that they work across the island of Ireland.
Rosaline Callaghan shared her experience of living with Hereditary Amyloidosis. The condition is unusual in that it has geographically specific origins: a fifteen-mile ribbon of coastline in North-West Donegal. Up until recently, the landscape was bleak for people affect by the condition. However, in the last two years, thanks to huge scientific advances, treatments for the condition have become available. Rosaline is the first in her family to benefit from an infusion of a gene-silencing drug every three weeks. Rosaline noted that this treatment has not been deemed to be cost-effective in the Republic of Ireland and that this was heartbreaking for families living there.
Robin Swann MLA, Minister of Health said that the Government would need to rise to the challenge of the Framework and understands that a collaborative approach is important as rare conditions do not recognise borders. Professor Deirdre Heenan, University of Ulster said that there needs to be equality of access to health and social care in Northern Ireland – for example waiting times are in stark contrast to those in England. She urged the Government to urgently deal with this and to deliver a plan with a timetable to implement the UK Rare Diseases Framework.
Rhoda Walker, Chair of NIRDP shared that the partnership is working closely with universities in Belfast and Ulster to develop rare disease training modules for medical and allied health professional students. Rhoda called for a rare disease register and better coordination of care in Northern Ireland.
The meeting was closed by Nick Meade, Director of Policy at Genetic Alliance UK.
Watch the full video of the virtual meeting.