How can digital enhance the support tools provided for patients with rare disease?

By rare disease, we mean one that affects a very small proportion of the general population. The European Union defines this as being less than 1 in 2000 people. In the US, the FDA defines a rare disease as one that affects fewer than 200,000 people in the country — approximately equivalent to 1 in 1,645 people based on the total population in 2021. There are currently estimated to be approximately 7,000 known rare disease types. An ultra-rare disease is generally classified as one that affects fewer than 1 in 50,000 people, and sometimes as little as 1 in 1,000,000 people. 

The patient experience 

Due to the relatively small numbers of people affected, the experience of those living with a rare disease can be very different to those living with a more widespread, well-known and funded condition such as diabetes, or heart disease. 

Those living with a rare condition can face significant challenges in getting a diagnosis, accessing treatment and receiving coordinated care, as well as challenges with employment, education, social life and mental health. Awareness and understanding of the disease amongst healthcare professionals is often much less prevalent. 

On average, rare disease patients wait 4 years, receive 3 misdiagnoses and consult with 5 doctors before receiving a correct diagnosis. (Rare Disease UK, 2019)

Patients often describe the experience of not being believed when presenting symptoms to healthcare professionals – particularly when there is no simple explanation. This can lead to health anxiety and mistrust or a lack of faith in HCPs. 

The development of drugs and other treatments may be at an earlier stage — if they exist at all — than those for patients with more common conditions. The cost of accessing treatment can also be prohibitive for some patients. 

Through gathering data via digital channels, pharmaceutical companies and HCPs can build a better understanding of the reality of day-to-day life for patients with rare diseases. They can develop a more comprehensive picture of things like symptoms, triggers, and identify patterns in patients with little-known conditions that may lead to breakthroughs in treatment, as well as assisting individual patients with the management of their own health and wellbeing.

Alnylam launched the STAR app in late 2021 — a digital symptom tracker to support people with ATTR amyloidosis and their families in the UK by allowing patients to record their symptoms quickly and share timely, accurate information with their doctor during or in-between consultations to support more meaningful conversations.

Digital patient tools and platforms can provide 24/7 access to support, resources and online communities. These solutions can help patients as they get started on treatments that might be complex to manage. They can also help alleviate feelings of isolation, connecting patients to healthcare professionals and other patients with the same, or similar, conditions. 

RareGuru is an app that aims to ​​match and connect patients living with all types of rare diseases, in order to share experiences, track symptoms, and learn from each other. It was developed by a mother and her teenage daughter after they were diagnosed with Hypophosphatasia, a rare genetic metabolic bone disorder, in 2019. 

Unlike with drugs, patients can be provided with access to digital tools, that are not classified as medical devices, prior to their official diagnosis — which, as mentioned, can sometimes take years. This enables patients to begin understanding and coming to terms with how to live with their condition much earlier, as well as allowing them to make any lifestyle changes that could help them long term, such as changing to a specific type of diet. 

With rare diseases, where widespread medical understanding or expertise is often lacking in general practice, there may only be a handful of specialists in their particular field who are located across certain countries or cities. Through designing comprehensive digital tools to aid disease treatment and management, geographical and socio-economic barriers to care can begin to be overcome. 

Patients and their families living with a rare disease or condition may already have increased financial pressures due to the expense of drugs, therapies, medical devices, or home and vehicle adaptations. The increased prevalence of digital tools and services for rare disease treatment may help to reduce the cost of treatment and overcome issues of economic disparity within patient groups. 

Crucially, digital solutions can empower patients with rare diseases to take control of their own care. This may be particularly relevant to adolescents living with rare conditions who are increasingly yearning for independence from parents, carers and HCPs but still require some support in order to successfully manage their condition. 

The tools that will make a real-different will be those that put the patient first and take a truly user-centric approach to design and development. There will be no ‘one-size fits all' approach as the patient experience across different conditions is so unique. 

It’s essential that pharmaceutical organisations who are working on these services involve the patient at the beginning of the process. Undertaking user research will help build a full understanding of the needs, wants and habits of their unique patient group. The aim should be to build a comprehensive picture of how they feel that digital tools could further support them and improve their quality of life and treatment outcomes. 

Digital tools for rare disease treatment and management often work best as a part of a wider holistic offering including in-person and online support provided by non-profit groups, regular consultation with HCPs that understand the condition and the existing non-promotional resources provided by pharma companies such as Clinical Patient Educators. 

Depending on the findings from patient research, you may identify new ways in which your organisation could support patients with rare and ultra-rare diseases as they progress through an often complex care pathway from diagnosis to successfully advocating for their own wellbeing. 

Digital tools have huge scope to enhance the patient experience for those living with rare and ultra-rare diseases by empowering them to take control over their own health and building a more detailed picture of often misunderstood conditions. 

If you’re looking for a partner to help you ensure that your digital solutions are aligned to the needs of your audience and will have a meaningful impact on their lives, health and wellbeing, get in touch.