Why the interest in rare diseases?
Lucy: I grew up alongside a patient advocacy group. My eldest brother died of a rare X-linked condition and my parents started a support group for affected families before I was born. This was nearly forty years ago, when the rare disease sphere was nothing like it is today. I had the unique and privileged opportunity to shadow my mum while her work changed the natural history of my brother’s condition, MPS II, through advocacy, research and treatment. However, I didn’t plan to follow in her footsteps until I felt I had no choice. While training to be a doctor in the UK, it became clear to me that the neglect of rare diseases in medical education is significantly contributing to the challenges repeatedly reported by affected families.
Rick: I can’t claim an interesting route into the rare disease world, nor a personal connection. Chance led me to a role at Findacure, just as chance has led millions of people around the world to live with a rare genetic condition. Fundamentally, I believe each of these individuals deserves to have the opportunity to understand their condition, and to access whatever care or treatment might come from that learning. Too often they are left isolated and unsupported.
Can you outline what you see as the most important elements of the government’s UK Rare Diseases Framework, published earlier this year?
Rick: First and foremost, the existence of a dedicated framework to advance the UK’s care of patients living with some of the world’s rarest and most neglected conditions is hugely important. It reaffirms to the rare disease community that they are seen and considered; however, how well the plan is implemented will ultimately reveal the extent of the government’s commitment addressing the inequities inherent in rare disease care. Having chatted to Lucy a lot over the last few months, she makes a compelling case for the importance of Priority Two – increasing awareness of rare diseases among healthcare professionals. As the lifeblood of the NHS, rare patients can only be ensured effective diagnosis, care and treatment delivery if clinicians recognise them, and understand how to help them.
Lucy: The most important element of the UK Rare Diseases Framework is the patient voice. Because what are we doing this all for if it’s not to improve the lives of those affected by rare conditions? We need to listen to patients, families and advocates and really understand what is needed right now, where the greatest opportunities to make positive changes are, what patients aspire for in the long-term. I hope that this expressed need, as opposed to assessed need, will shape all four national action plans.
But in terms of the Priorities themselves, Rick is right, Priority Two is the key to unlocking the UK Rare Diseases Framework. Whatever rare condition you live with and wherever you live in the UK you should trust that you can present to the NHS and be treated with dignity and receive a basic level of medical care. It will be impossible to optimise diagnosis, coordination of care and access to specialist care and treatment without a well-equipped workforce, literate in rare.
What do you hope that the new Framework will help achieve for patients and health services?
Rick: Firstly, I would like to see the framework help to drive awareness about the challenges rare disease patients face with policymakers. The framework should be seen as a stepping stone to real change in delivery, not an end in itself. This can only be achieved through increased attention from government and the NHS. Secondly, I’d like rare patients to feel they have a place they belong within the health system – a pathway to better care and understanding.
Lucy: I think we should be aiming for a system in which a patient with a rare condition can expect a timely diagnosis, tailored mental health support, care in a specialist centre underpinned by excellent communication with their local hospital and GP, and be reinforced with support from a patient advocacy group and the hope provided by research opportunities. Without the rare community getting behind groundbreaking research we wouldn’t have the NHS Genomics Service as we know it today and I think this is a shining example of how really stepping up to this challenge will not only benefit rare patients but the NHS and all its users.
What do you see as the key shortcomings in healthcare currently experienced by those living with a rare disease in the UK?
Rick: There is a fundamental lack of direction in rare disease care. With no dedicated speciality, or even a dedicated generalist clinical specialist, those patients whose rare condition affects multiple systems are passed between clinicians and services with little explanation, communication and often care. Complex cases need focused management, and the current system is only capable of delivering that when exceptional individuals step forward to deliver care outside of the standard operational model. This needs to change.
Lucy: I think that the design of services for rare diseases has often taken place through a largely biomedical lens which then creates an infeasible challenge for providing for all 7000-plus of them because they are so heterogeneous. Therefore it is my observation that services have popped up in an inconsistent fashion based on seemingly random determinants: interest from a notable physician, due to the relentless work of a force-of-nature advocate, interest from industry. Which leads to the issues that Rick has outlined. Again, if we turn the table and listen to the expressed needs – these are often remarkably similar across the rare disease field.
How can these best be addressed?
Rick: Better knowledge and understanding of rare diseases in clinical education. Dedicated care coordination roles in the NHS. The development of a specialism to manage complex multi-systemic conditions – something that can be managed in paediatrics or geriatrics. A recognition that the current system is leaving too many patients behind. More formal collaboration with and financing of existing rare disease patient organisations and charities.
Lucy: Undoubtedly, a prepared and equipped NHS workforce will make a big difference; however, the system needs to lead by example. If we want HCPs to better manage their rare patients then the system needs to show them how with training, care pathways, clinical resources, making data collection mandatory, measuring outcomes and patient satisfaction. Otherwise we will end up with an aware but powerless workforce.
What role could the pharma industry play to improve the picture for patients with rare diseases?
Rick: Firstly, by being creative and open-minded in the types of projects they select and move forward. There is a huge unmet need in the rare disease space which can only be addressed by scientists looking into diseases that we understand poorly. When this happens though, the field can move at pace, and change lives.
Secondly, over the last few years there has been an ever- increasing recognition of the value of patient perspective to the drug development process, particularly in rare diseases. This has, however, created an increasing burden on rare disease patient organisations, many of which are tiny voluntary groups with little time or resources. To move forward successfully the rare disease community needs these groups to flourish, and I would call on industry to come together to find a significant way to support their growth, professionalisation, and financing.
Lucy: I completely agree with Rick that the pharmaceutical industry can lead by example for the delivery partners involved in the Framework. Work in true partnership with patients and patient advocacy groups. See them as the experts that they are and treat them on a par to other professionals. If you are learning from a patient advocacy group, ask yourself what they are getting in return? In small charities, people-power and funds are often in short supply and their time and resources are highly valuable. They should be treated as such.
M4RD is lucky to have a number of sponsors from the industry and the more we work together, the more we learn from each other’s perspectives. And this can be done appropriately while keeping the ABPI code of practice. Due diligence is naturally essential for protecting all parties involved and the public, but it’s important to not let this become a bureaucratic process that actually does patient advocacy groups more harm than good.
Is there room for a closer working relationship between pharma, patient groups and the NHS/NICE?
Lucy: I’m going to leave this one to Rick as he is far wiser than me. All I would say is generally I don’t think progress can be made unless all parties involved are part of the decision-making.
Rick: Absolutely. I would go further and say that this is essential. Patient groups have the knowledge and drive to deliver change in their condition area. In general, though, they lack the resources to do this. Moving forward we need to see an increased willingness from the NHS to work directly with rare disease patient organisations to improve services, and to contract them to deliver support.
We also need to see industry support those groups more to grow and professionalise so that they can deliver even more valuable insight into the drug development process.
What are your hopes for the future for patients living with rare diseases and their carers, in terms of care and treatment?
Rick: That anyone living with a rare condition knows where to turn to within the NHS to receive the best care and support available, and that the NHS strives to improve that care wherever it is lacking. Equitable care for those with rare conditions must be the aim of society at large, so that no one is effectively abandoned due to a chance genetic mutation.
Lucy: Even when specific treatments are not available yet, every patient living with a rare condition should have a care management plan. This will enable optimal treatment for those with and without treatment options.
In terms of care: I will know I’ve done my job when someone can say they have a rare disease and their doctor says “OK, Tell me about your condition, I probably won’t have heard of it but I do know the many ways that rare conditions impact patients and their families”. Then listens actively to what the patient is really asking for, doesn’t try to solve problems but goes to trusted resources to get the patient the support they need. When rare becomes run-of- the-mill I can retire.
