Taken collectively as a therapeutic area, rare diseases break all the rules. They touch every system and organ in the body, they affect people of all ages, ethnicities and genders, and they are constantly proliferating, with more diseases identified every month. As a result, they present a huge range of challenges to healthcare systems, patient organisations and pharmaceutical companies.
So, what do rare disease patients and their families, carer and support networks need the most? For Alastair Kent, director of the Genetic Alliance and chair of Rare Disease UK, the first step is recognition.
“We need government to recognise that just because a disease is rare doesn’t mean it is insignificant,” he says. “Rare diseases affect 3.5 million people across the UK, equivalent to the population of Wales; if a common condition affected that many people, it would be the focus of an awful lot of attention. We need the government to see rare diseases as a serious public health issue that should be given the necessary priority. All we ask is that rare disease patients be given a fair crack of the whip.”
There are three priorities, says Kent. “First of all, patients want a timely and accurate diagnosis, which is by no means a given. Rare disease patients often rattle around the health system for some time seeing doctor after doctor and waiting months or years before getting a diagnosis, often with frequent misdiagnoses on the way. This is crucial because without a diagnosis, patients miss out on potentially effective medicines and risk suffering from receiving the wrong treatments.
“Secondly, once they have a diagnosis patients want timely and sensitive provision of care and support that reflects current clinical understanding of the disease and an up to date insight into the underlying biology. Finally, where a therapy is available, patients need to be confident that they will get it. Also, if the situation changes in light of new progress or new understanding, they expect to be reviewed and their management updated,” he says.
“To achieve this we need sustained engagement and systematic development of novel ways of commissioning services that bring together what rare disease patients need in a coherent and effective way. It should not be beyond us to build a framework that coordinates the care and support for patients and families and delivers it in a logical way.”
Against the grain
For long-time rare disease campaigner and chief executive of the Cambridge Rare Disease Network, Kay Parkinson, the healthcare system neds to change root and branch. “Current medical training works against rare diseases; medicine today is very much a specialist culture – if you have a heart problem you see a cardiologist, if you have diabetes you see an endocrinologist – but rare diseases tend to be complex and multi-organ so it’s difficult for doctors to join the dots. They’re not trained to think rare.”
Parkinson sees the greatest opportunity with younger doctors. “We work with a group called Students for Rare Diseases, which medical students set up because they were so frustrated that their training did not include any education on rare diseases. When I ran the charity for our childrens’ condition, Alström syndrome, younger doctors would turn to the internet to try to diagnose these children and some older patients who had been with their older doctor for many years weren’t diagnosed until they changed to a younger doctor, who went looking for information online.”
Healthcare professionals other than doctors also potentially have a big role to play, says Parkinson. “One project we’re working on is to see whether we could introduce rare diseases nurses in a similar way to Macmillan nurses in cancer. Trained, experienced nurses offering ongoing monitoring and support would benefit both patient and doctors. For example, if a child needed to be admitted to hospital, a nurse professional could offer doctors who may be unfamiliar with the disease a fuller idea of what care was needed, or they could advise the parents of children with a genetic disease on their chances of having another child with the condition.”
She sees a role for pharma; “Companies already work extensively through nurses. When you develop expensive drugs drug adherence is a big issue and rare disease nurses could really help patients to better understand their treatment.”
The role of medical education in helping healthcare professionals to diagnose and manage rare disease patients shouldn’t be overlooked, says Richard White, commercial director at health science communications agency, Oxford PharmaGenesis. “With thousands of diseases and small patient populations, it is impossible to educate all doctors about all rare diseases, but there is a role for communication and education. For example, Fabry disease is a lysosomal storage disease that can manifest in many different ways so is hard to spot. However, patients often show an unusual pattern on an ECG, so we produced a booklet for cardiologists that asked them to considered Fabry when they saw that pattern. This approach works well with specialists but primary care is a tougher nut to crack. I believe the best approach is to educate around the cause of the rare disease in terms of which biological system it impacts as GPs may not have heard of the disease but they may remember the system from their training.”
One caveat is that the approach may work better with younger doctors as some of the system associated with rare disease may not have been identified when some older physicians went to medical school, says White.
Come together
A major goal for the Cambridge Rare Disease Network is to bring together every stakeholder involved in the rare disease field, says Parkinson. “Our conferences are unique as they bring together industry, patients and medical professionals in one room, every aspect of the multidisciplinary care mode. The model has been hugely successful and we aim to continue to stimulate pharma and doctors thinking about rare diseases.”
This approach has yielded results in the past, she says. “My husband and I attended the World Orphan Drug Conference in Geneva two years ago where we displayed a research paper about Alström Syndrome. Pierre Laurin from Canadian pharma company ProMetic came up to us and said his company had developed a drug that treats fibrosis – with Alström, the organ become fibrotic – and now, two years later there is a clinical trial up and running. Pierre had never heard of Alström Syndrome so without the paper he would never have known that his drug could work in that condition.”
Collaborations between patient advocacy organisations and pharma companies can be beneficial for all, says Alastair Kent. “The relationships with pharma are much better than they once were – they are more mature. We recognise that we have interests in common – as we have interests in common with clinicians, health service providers and so on – but we also recognise that our interests do not always overlap and that it is important to maintain independence of both partners. We all want the same thing – to address patients’ unmet medical needs – and by working closely with patient groups pharma companies can be confident that they are addressing the issues that matter the most to patients and satisfy the regulators.”
Patients are information-hungry, says PharmaGenesis’ White. “As a rule, companies underestimate how much patients want to know – they want to know everything. What might feel like a fairly trivial part of the life-cycle of a product can be very interesting to a patient, especially as it gives a sense of hope and of progress. They want to know when an animal study shows an interesting result, when you’ve enrolled a person in a clinical trial, when you’ve locked the database, they want to hear about every step. When a molecule fails, telling patients about another one coming along demonstrates commitment to the disease area.”
Rare disease patient groups are often crying out for support, says White. “In some rare diseases, patient groups are very well developed but in others, especially the ultra-rare, they are usually run by a patient or a family member sitting at their kitchen table. They really need help. The problem comes when the disease has no treatment and there’s no company offering help. While some of the larger groups offer ad hoc help, what these groups really need is a central resource of information and support, essentially a how-to guide for setting up a patient support group – a support network for patient support groups. Pharma could potentially fund this with a cross-industry consortium, even those companies that do not have an asset in a partcular area.”
The human connection
Technology offers a huge range of benefits for rare disease patients, says Victoria Wright, general manager of medical communications agency Publicis Life Brands Resolute. “Rare disease can be a lonely place; a lot of parents feel very alone when they have a child with a rare disease and often feel they are forced to manage alone, however, the internet in particular has the powerful ability to offer information and to create communities.”
Wright points to the website findzebra.com. “This website helps diagnose rare diseases. It’s very simple and looks like a search engine, asking doctors to input phenotype and genotype information or patients to check their symptoms,” she says. The website’s name comes from a quote from the TV show, House: ‘I look for zebras because other doctors have ruled out all the horses.’ Zebra is a medical slang term for a surprising diagnosis.
The adoption of social networks in rare diseases has been phenomenal, says Amir Lewkowicz, vice-president of strategic partnerships at health social network Inspire. “Because rare diseases have small patient populations, social networks are great tools for people to connect with one another. If only 10,000 people across the world have a condition, the likelihood of there being someone in your town is far lower than with non-rare conditions. For some patients, anonymity is an important factor so they do not have to provide their name or address or other identifying information to access our communities. That way, patients may feel more comfortable in discussing their condition, plus they can connect with other patients privately.”
The human connection is vitally important, says Lewkowicz. “Some rare disease patients may never have met anyone else with that disease and so the value of that connection can be tremendous. Patients share very valuable information such as information on clinical trials and centres of research excellence, all the way through to medical costs and who are the leading experts. In fact, when patients come on to the site and say they have been newly diagnosed other members of the community jump in and offer key facts and information as well as advice on what they should ask their physician. This is vital information as the primary care physician is not an expert. The patients are the experts.”
Online communities are not just for patients, says Wright. “The neuromuscular disease community has a website called Treat NMD, where physicians can harness a global network to improve treatment and management, and our research shows they find these communities very valuable.”
