6% of people around the world are affected by any of the 7,000+ rare diseases, but only 5% of rare diseases have an approved treatment
Prepare to jump
How to find a needle in a haystack?
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The framing phase of a rare disease journey project is paramount and should be focused on developing a ‘strategic and collaborative approach’, starting with a strong recruitment plan.
This should explore avenues of collaboration available, as well as timelines and the number of engagements required, to then lay a plan of approaches to maximise reaching relevant patients and HCPs. For instance, previously, to learn about patient experiences in an ultra-rare eye disease on tight timelines, we opted for a cohesive approach between Branding Science, our fieldwork team and client teams with pre-existing relationships with PAGs. This allowed us to increase our reach and provide an opportunity to find a strong pool of those challenging recruits, with varied experiences, within the timeframe.
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Similarly, to maximise interactions with those rare recruits, and before communicating with them, we immerse ourselves in their online environment to build a frame of the patient experience through a four-dimensional lens focusing on the emotional, practical, social and treatment burden aspects of their journey. By analysing the available resources, public forums and conversations, we are able to build a repository of data and direct patient feedback. This helps to inform the study’s language and content and identifies topics which are most relevant to explore further in our primary research.
One size does not fit all!
What makes rare disease patient journeys more complex?
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Learnings are derived from a pool of RD patients with more divergent experiences than non-RD patients, coupled with extrinsic factors such as differences in country-specific approaches to rare disease and access to care.
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The road to diagnosis is fraught with uncertainty, misdiagnoses and frustration. Lack of recognition of the disease by a primary care physician (PCP) leads to physician handoff from one specialist to another, resulting in months to possibly years before an RD specialist pinpoints the correct diagnosis. Thus, the RD patient journey is more comparable to a continual quest marred by disappointment vs. a journey of definitive steps.
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There are typically more highs than lows in RD patient journeys. Diagnosis, usually characterised as an emotional high point for most non-RD patients, remains a low point punctuated by physicians’ paucity of knowledge about the condition and the uncertainty of a course of treatment.
An example of our 360° patient journey approach for Rare Disease X:
How
We captured the resilience of the fragile, distraught patients by highlighting the disappointing HCP experiences, and uncovered physician and patient pain points and unmet needs gaps through a transactional and emotional lens.
What
Through patient pre-tasks, patient and physician projective storytelling techniques, patient video diaries and patient online community boards, we fully immersed our client in the patient and HCP current experience of Rare Disease X, and the slow tenuous path to get there.
Outcomes
We provided clear insight into the changing dynamics of Rare Disease X, its impact on both patients and HCPs, and the disconnects and unmet gaps. Our recommendations provided strategic support in confirming meaningful clinical trial endpoints for a pipeline product for Rare Disease X, as well as early thoughts regarding patient-centric and HCP-centric brand planning, and unbranded and branded educational campaigns (based on both clinical and emotional pain points).
Treatment is a merry-go-round
What characterises an RD patient’s treatment journey?
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At the initial diagnosis or misdiagnosis stage, the carousel of treatment begins, often with the primary aim being to address threatening symptoms first.
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Generally, treatments must be switched often, particularly at the beginning, because:
– The treatment is ineffective at addressing symptoms.
– The treatment only addresses symptoms temporarily.
– The treatment is no longer beneficial as the disease progresses and new symptoms appear.
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Patients are often passed around different HCPs who prescribe new treatments in an attempt to control symptoms.
– From a GP to a suite of different consultants and specialists, until they eventually meet a specialist they will keep a longer relationship with.
– During this time, many patients and/or caregivers seek the support of Patient Advocacy Groups (PAGs).
– Family members also act as supporting figures during this time.
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During the carousel of treatment, tensions between HCPs and patients can begin to build. The patient can become frustrated with the trial-and-error approach to their care. This can lead to a variety of situations:
– Patients start their own research and begin advocating for themselves with the help of PAGs.
– All stakeholders become drained and HCPs become equally frustrated with not being able to help more.
– Patients and carers become wary of new treatment options presented to them.
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Frustration continues to build after the correct diagnosis and treatment plan is established. Specialist care can be sparse, meaning patients must travel greater distances for their care.
An example of our 360° patient journey approach for Rare Disease X:
How
Obtain perspective from the HCP, patient and caregiver, capturing 360° insights from both an emotional and transactional lens.
What
Compare perspectives from HCPs and from patients through projective techniques, pre-tasks and storytelling.
Outcomes
We uncovered any real-life emotional and transactional disconnects and tension points between HCP and patient/caregivers. This helped start to develop effective unbranded and branded educational material about the asset.
We identified types of support (emotional, psychological) which patients still needed and helped to inform the client’s patient support programme.
A reverse patient/HCP dynamic
Because of the ‘rare’ essence of their disease, often, a large majority of patients, carers and sometimes extended family/friends have to become self-taught or self-researched experts. This can be a stark contrast to most of the HCPs they may meet during their lifetime, who are unaware for most of their disease, particularly until they can meet a knowledgeable specialist. This creates a requirement for patients/carers to advocate for themselves and explain the background of their condition.
How can this impact your research approaches?
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The experience often makes patients, carers and patient support groups great advocates/experts in their condition, who feel very strongly about having their voices heard. It is therefore paramount to leverage this keenness and knowledge into cohesive approaches and to consider involving them in research that could often be limited to only HCPs. For instance, we have, in the past, empowered the rare disease patient voice to co-create and collaborate in the development of HCP-aimed communication materials, focused on raising awareness of their condition, and were able to overlay their experiences and feedback into the final version of communications. Another key area where patient voice can be a lever of credibility is medical publishing, which brings another lens highlighting not only the scientific side but the real-life daily impact of conditions on patients.
On the other side of the spectrum, it is equally paramount to take into account the often lack of or limited knowledge from the wide majority of healthcare professionals (HCPs), or even specialists. This reality often means that it will be key when framing research to include KOLs or expert HCPs, but also to involve and hear from real-life jobbing HCPs, who might be faced with RD patients. Specifically, key aspects of the patient journey needs to address and confront this discrepancy in knowledge to make sure that areas such as route to diagnosis, key behaviours upon admission/presentation of patients, challenges related to diagnosis or referral to experts are understood. This is particularly relevant as diagnosis is a key hurdle in their RD journey but is often hindered further by the fact that the HCPs meeting patients first/earlier in their journey tend to be the least aware of their rare condition; and it is not until they are referred or find an expert that they are then diagnosed. This tension is often frustrating on all parts, patients, HCPs and disease experts, as they try to understand how to best support all stakeholders involved in the process, leading to enhanced care in rare disease.
This article was written by:
Anastasia Pecquet
Associate Director
Rare Disease Centre of Excellence