We have been interested in rare patient journeys for a very long time. In each rare disease that we research and work in, we are struck by the common challenges that patients and caregivers experience. This is not new news and in many ways it is common sense. Of course, something which is rare will be unfamiliar and unrecognisable and is likely to something where there is limited knowledge or experience. Physicians are trained to look for ‘a horse when they hear hooves and not a zebra’ – in other words explore the obvious and common diagnoses first. Unfortunately, most physicians do not recognise a zebra when one does come along, which is why so many rare patient journeys are delayed from the outset.

The emotional and practical burden of a rare disease on a whole family can be significant. In part, this is due to the fact their journeys are ill-defined and untrodden; causing unnecessary distress and prolonged uncertainty for the patient and their friends and family.

Historically a patient’s journey with rare disease was not well understood and an individual’s journey was determined by a combination of their own attitude, mind-set, their geography and proximity to specialist centres or simply down to pure luck.

Rare disease patients are often geographically dispersed, and because they are so few in number it is often very difficult to get a true picture of the composite journey; with the stages poorly defined and the path through the health care system lacking consistency.

The rare disease universe is very small and scattered. Very low numbers of healthcare professionals as well as patients with a sparsity of information, treatment options and sometimes experience means that knowledge resides in fewer specialist centres. Faced with this lack of knowledge, patients and caregivers have been forced to reach out far and wide to gain the information they need to better understand their condition, make life bearable and to understand the latest treatment options, if there are any.

When it comes to mapping the rare disease patient journey; patients and caregivers hold vital information for Pharma about what happened before they reached the specialist who diagnosed them. The path to diagnosis has often been slow and difficult, physically and emotionally, with misdiagnosis being common. As many rare disease patients are children, it is common for parents to speak about ‘different disconnected symptoms’ with a variety of different specialists. This further complicates diagnosis as no one person oversees the patient and considers all symptoms together, hence it is often the parent or patient who ends up making the diagnosis. Even following diagnosis there may be few, if any treatments available. So, their journey may lack defined steps or lines of treatment leading to, sadly, advancing stages of their disease.

From a journey perspective the delays to diagnosis mean precious time is wasted. This is especially tragic when there is available treatment that can slow disease progression or even offer a cure. This also means lost or delayed revenue for Pharma - timely diagnosis is a win-win all round. Delay also means prolonging uncertainty, placing an extra burden on caregivers seeking resolution (often we hear that whilst the diagnosis may be devastating, it provides some level of relief as there is at least an answer to their many questions). Once correctly diagnosed, then services can be activated and steps can be taken to begin to manage and/or treat the disease.

There are also some rare diseases and conditions now recognised with well-established and understood journeys e.g. Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD).  These two diseases illustrate a new phenomenon which is evolving, in that the patient journeys are elongating. Historically patients with such childhood diseases did not reach adulthood, for example, children with CF or boys with DMD rarely reached 18 years of age. Recently, we heard of a baby girl diagnosed at birth with CF, whose parents have been advised that she may well live to reach 50.  Patients with DMD are now regularly living well into their 20s.   This improvement in life expectancy also has repercussions for the patient journey and our understanding of it. Currently the transition from paediatric care to adulthood is unformed and patients ‘hang on’ in paediatric care until 21, however they can then appear to “fall off the cliff” as the adult services to manage their disease are immature or non-existent. As an example, we recently heard from the mother of a 25 year old young man with DMD who had had no HCP or support services in place since being discharged by his paediatrician. Similarly in CF, services for patients up to 18 years of age are incredibly well organised with multiple stakeholders ensuring the young person has optimal care. But, once they reach 18, it all falls away at the very time that they face the stresses of trying to become independent of their parents to form their own life. A challenging stage in their ‘elongated journey’.

The elongation of the rare patient journey means there is a need to fully understand the needs of the new generation of patients, not just medically but also practically, emotionally and socially. Where are the gaps and pressure points in the healthcare system and in the family support system? It is unrealistic to expect Pharma to meet all of those needs but working with other stakeholders, agencies, charities and Patient Advisory Groups (PAGs), there are multiple opportunities to make appropriate and targeted interventions to support the evolving patient journey.

On a more positive note things are changing, and our understanding of patients’ journeys are improving. The internet has facilitated patients and their families in becoming better informed and connected.  Increasing numbers of rare disease groups e.g. NORD and foundations such as Findacure are helping connect communities, drive awareness, share learning and build infrastructure. This has also led to strong and vocal rare disease patient expertise and advocacy. PAGs hold significant influence and can be a vital information, and provide a support network for patients who may have previously felt isolated with their disease. We are seeing Pharma companies increasingly investing into better understanding of the patient journey and starting to realise that they need to do this much earlier in the product development process. Rare disease pathways are evolving, patient learnings are being shared, clearer routes are emerging, and touch-points are becoming more defined. Treatments are appearing, albeit slowly, and investment is being made in bettering the lives of those with rare diseases.

It is critical that PAGs and Pharma engage, and that patients are better listened to and understood as early as possible in the drug development process. See more detail on this in Tom Thurston’s Biotech series. These relationships need nurturing. Patient centricity in rare disease is about true partnership, based on mutual interest and mutual respect. Pharma can help with the development of the PAGs and can working together can improve access to medicines and services, which ultimately benefits the patient, their families and the quality of their overall journey. When the journey and flow are scoped out and touchpoints, direction, actions plotted with more certainty then the Biotech or Pharma company can better understand the unmet needs and where investment can be placed to optimise patient access to treatment and overall treatment outcomes. This is definitely an area of win-win. With a better understanding of the patient journey, BioPharma can begin to realise the full potential of their assets and provide the relevant support services and infrastructure to ensure patients can access and manage treatment. Rare disease is one of the few areas where we have seen loyalty to a Pharma company expressed by patients and caregivers. Their gratitude to the first-to-market ‘orphan’ product is deep and heartfelt.

Despite significant levels of unmet need along the rare disease patient journey, there are clearly two areas that still appear to be in need of urgent attention:

  • Support is still needed at the beginning of the journey prior to diagnosis. Quicker identification of the disease not only ‘grows’ the pool of patients but can also fundamentally change the direction and speed of disease progression. Education and disease awareness to drive prompt recognition of the symptoms and disease.  The establishment of specialist rare disease centres, housing experts in a range of rare diseases enable patient with unusual diseases access for investigation. Earlier diagnosis and medical intervention can result in a longer life for patients with better disease management and quality of life throughout the journey.
  • There is a need for intervention at an individual, system, and family support system level in rare conditions affecting children who are now living longer. Transitioning to adult services should not be a traumatic hit-and-miss affair. This elongating journey needs to be addressed proactively. It is a tragedy if the gift of longer life is not supported and enhanced properly

We are moving into a new era where those with rare diseases can expect a smoother, longer and better managed journey. Hopefully, in future, when physicians hear hooves they won’t just be thinking about horses but will also be looking out for the zebra too.

Rare Diseases Expert Hub