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Rare Diseases Day

More than other conditions, rare diseases require a human touch, but technology can provide a vital helping hand

Matt Norton

On Rare Disease Day in 2019 it is surprising to note that few rare diseases have benefited from the digitisation of condition management and disease information in the same way as more common conditions have. On first glance, it appears that the level of personalised human support needed for each complex case is not suited to the kind of digital therapy management and patient support services developed for more common conditions like diabetes or insomnia. There has therefore been a lack of investment in these services for rarer conditions.

However, there is now a growing awareness that digital tools can offer much broader, quicker and easier patient access to highly specialised clinical support – which could have a significant impact on improved outcomes for conditions that can deteriorate rapidly if symptoms are not understood effectively. We have seen from some of the work we’ve been involved in that digital support for patients and carers can result in longer, healthier and better quality lives for some patients as it enables early, swift intervention in real time, when it’s needed.

By definition, rare diseases affect one in every 2,000 people or fewer. Three-quarters of rare diseases affect children. In 30% of cases, the patient dies before the age of five. Many patients with rare diseases require care from a mix of medical professionals who develop an intimate understanding not only of the patient’s disease history but also their personal circumstances. As a result, patient support can require a significant level of human intervention to ensure patients receive effective care.

Each of these diseases has a severe impact on everyday life for patients and carers, who need to adapt to incorporate an often complex and arduous daily care routine. According to the first ever Europe-wide survey on juggling care and daily life with a rare disease, carried out by Rare Barometer, eight in ten patients have difficulties completing basic daily tasks. As a result, the majority of care is usually coordinated by the patient themselves and their family members. According to the survey,  over half of patients say the condition has a severe or very severe impact on their daily lives.

Eurordis, an alliance of patient organisations representing 837 rare disease patient organisations in 70 countries, says managing care can involve an arduous and gruelling uphill struggle to ensure that the right treatment is found and accessed. This is in parallel  to the daily challenges of making sure the home and workspace environments are fit for purpose. As a consequence, people living with a rare disease are often forced to take time off work or school in order to manage their care – researching local services, making phone calls, accessing treatments, etc. It’s a complex and frustrating process.

Could there be a role here for tailored digital therapy management and patient support services? Such programmes have so far been proven to improve the outcomes of many relatively common conditions. In mental health, digital therapeutics and online services are used to administer Cognitive Behaviour Therapy (CBT), while with chronic conditions, such as diabetes, digital support can improve adherence to therapy – both medication and lifestyle changes. However, work we’ve been involved in and have seen in rare diseases around the world show that in some cases they can be crucial to improvements in outcomes for patients. Here, digital support can be just as effective, but needs to be different.

Firstly, quality information, scientific knowledge and disease-specific expertise are often limited to a number of specialist centres.This makes it difficult for all stakeholders, even clinicians, to access information. Digital support services reduce barriers to access, both in terms of dissemination of knowledge and in allowing patients and their families to question experts remotely. They offer the potential to connect experts and patients across long distances, saving hours of travel and expense.

Remote digital services also assist clinicians and other stakeholders. With rare diseases, diagnosing and tracking the condition can be difficult because expertise is often scarce, and the data poor.

This isn't helped when gathering data to progress knowledge and treatment is difficult due to dispersed patient populations and lack of, or delayed, diagnosis. However, digital support systems are already being used to track and monitor rare disease symptoms, where local carers and clinicians are empowered to make observations and capture data which is collated and shared with physicians to help speed up diagnosis and treatment selection.

Parents and carers can also record and capture observations of patients by completing clinical assessments. Doing so can supplement expert clinical reviews. It means that if a patient is tired or unable to complete the necessary assessment during an appointment, the clinical team can see these behaviors in the context of their overall condition.

Digital services applied to rare diseases are also increasingly being used  to improve clinical care coordination, along with the understanding of, and adherence to, standards of care for specific diseases. Such systems are helping clinical teams to visualise this data, allowing them to share knowledge with other clinicians.

Then there is the psychological side of suffering from a rare disease. Patients with rare conditions, as well as their family members and carers, often face social challenges such as feelings of isolation, perceived stigma, fear and distress. Over long periods of time, in the face of conditions with poor prognosis, it’s easy for patients and those around them to become despondent. Digital support services connect patients to communities and peers, reducing feelings of isolation and stress.

There are signs that the opportunities digital technology allow are starting to be more widely recognised. Alongside some solutions that firms are already providing, some wider policy work has already started in applying digital technology to rare diseases. In its Implementation Plan for the UK Strategy for Rare Diseases, updated this week, theNHS in England promises that the NHS App, a means of accessing the NHS through a smartphone or tablet, will allow people to find out more about research in the NHS, and consent to their health and care data being used for research into improving rare disease prevention, diagnosis and treatment. It has also committed to work to improve the prevention, detection and diagnosis of rare diseases through artificial intelligence (AI). This includes the development of a programme on digital pathology and radiology using AI.

In the US, MassBio is focusing on underpinning the growth of the digital health ecosystem. They are focusing on enabling access to data and patients to drive the creation of an evidence base, while also helping firms to access the best brains needed to create a dependable and flourishing network that can help increasing numbers of patients with a range of conditions.

Just because these diseases are rare, doesn’t mean they should not be a priority. One in 20 people will be affected by a rare disease at some point in their life, according to Eurordis. Yet, there is no cure for the majority of rare diseases and many go undiagnosed.The 12th edition of Rare Disease Day will focus on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day. Digital services are well suited to addressing this theme by allowing instant communication and sharing of data over vast distances. More than other conditions, rare diseases require a human touch, but technology can provide a vital helping hand.

Matt Norton is Head of Strategy and Client Solutions at S3 Connected Health

Article by
Matt Norton

28th February 2019

Article by
Matt Norton

28th February 2019

From: Healthcare



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