Approximately 6% of the population is affected by a rare disease diagnosis, meaning that collectively it is not so rare at all. While the 7,000 different conditions under the ‘rare umbrella’ are all very different, there are some commonalities too.
The phrase ‘diagnostic odyssey’ is well known among those in the rare disease community, with a long and convoluted path to a definitive diagnosis being all too familiar. Figures show average waits of around seven years, but it’s much more than just a waiting game. Multiple referrals, rounds and rounds of testing, and potential misdiagnoses too. It’s no wonder that finally getting a diagnosis (remembering that there are some who may never get a diagnosis at all) can seem like the holy grail itself to patients and their families.
Sadly though, the moment that a diagnosis is made does not automatically alleviate the emotional burden on patients and their families. It is a psychologically complex event and can pose an equivalent ‘emotional odyssey’ all of its own. Initial feelings of relief at receiving a diagnosis can often dissipate quickly in exchange for feelings of loss, grief and anxiety. Parents and carers of children receiving a rare disease diagnosis are impacted in a unique way too. As Dr Tom Kenny, CEO of Rare Disease Research Partners, puts it: “Whatever their experience before a correct diagnosis, things change for individuals and their families irrevocably at the moment they are diagnosed with a rare disease. This moment stays with those affected for the rest of their lives”.
While this impact is recognised, there has been less focus on this part of the rare disease journey in both the research and practical guidance for professionals working in this space. Our recent project set out to change that, by zeroing in on the moment that a rare disease diagnosis is given. By looking at the available literature in conjunction with a panel of experts representing a range of different patient and professional perspectives, key themes were identified that were then taken into the development of a ‘Statement of Good Practice’.
The scope for this project was diagnoses of rare diseases made in infancy and childhood, as the information and guidance for these patients and their families is particularly scarce, though the findings and their implications are likely to be more widely applicable too.
The evidence base
A systematic literature review using the electronic database PubMed and reference listing resulted in 35 relevant research papers being brought together. It explored each aspect of the diagnosis journey and the elements which contribute to an increased risk of negative mental health outcomes for the individual and their family. Besides the impact of a prolonged path to the point of diagnosis, these include:-
Poor diagnostic delivery & lack of psychosocial support or counselling
The tone in which a rare diagnosis is delivered to an individual or their family has a heavy influence on their prospective journey. Some families have reported traumatic experiences at diagnosis, citing rushed delivery, lack of empathy, being left alone, or being left in a crowded room of professionals and of those professionals leaving mid-way through the diagnosis. Individuals have shown signs akin to PTSD following diagnosis. While there is unavoidable trauma associated with a rare disease diagnosis, there is avoidable trauma linked to the tone and manner of the delivery.
Conversely, the diagnosis could be seen as a turning point that could enable families to start adjusting to their new normality if handled more appropriately. Assessing psychological risk factors, teaching coping techniques and specific psychological and psycho-social interventions should all be services that patients can benefit from, as the literature demonstrates. Remembering to address practical needs and the needs of family members as well as the patient is vital too.
Information provision & lack of specialist knowledge from healthcare professionals
Experiences immediately after diagnosis were described as overwhelming, scary, and lonely, with little information or support from health care providers. The lack of good-quality information was described as disappointing, and patients and their families voiced frustration at the lack of specialist knowledge.
Many describe turning to online communities for support, with some parents of children with rare conditions describing online forums as a lifeline when navigating a new diagnosis. However, this brings with it its own set of challenges, with large volumes of unmanaged information, particularly on social media, potentially triggering sorrow through negative information or information overload.
The need for managed (curated) information is not limited to patients either. Resources to help with clinical care would be especially valuable, such as clinical guidelines on diagnosis and treatment, educational modules, and referral pathways.
Navigation of the healthcare system
Parents in families affected by rare diseases have a near-ubiquitous experience of problematic navigation of health care systems. Families feel particularly vulnerable due to the fact that collaboration and communication between healthcare service providers are often fragmented and unsatisfactory.
Parents describe the current healthcare system as being like a revolving door, in which they repeatedly enter and exit, each time having to tell their story to a different professional. Most health systems leave people to attempt this navigation alone, and few have formal resources in place to facilitate smooth navigation.
A Statement of Good Practice for Rare Disease Diagnosis
Currently there are no published consensus guidelines on the type and extent of psychological support needed by families and caregivers of children affected by a rare disease diagnosis, at the time of diagnosis.
The literature review, combined with the input of experts in the field through a series of meetings and online discussions to gain consensus, enabled the development of a Statement of Good Practice.
Recommendations (with graded evidence) have been put forward for:-
- The delivery of a diagnosis
- Information provision
- Access to disease expertise and psychosocial support
- Facilitation of support networks
- Co-ordination of care
What next?
In the recent UK Rare Disease Action Plan, published on Rare Disease Day 2022 by the Department for Health & Social Care, there is an acknowledgement that people living with rare diseases and their families often have very specific needs for mental health support. While different countries will have different challenges and solutions to addressing this, the hope is that this piece of work will provide a universal foundation to inform future development of services, initiatives, and programmes delivered by the wide range of organisations involved in the rare disease space. Of course, the potential for application of new technology and digital tools to contribute here is clear.
With the recommended safeguards and practices in place, the long shadow that is cast by a sub-optimal diagnosis experience can be removed and the entire relationship a patient and their family has with their health condition could be transformed. That’s a goal surely worthy of pursuing.
By Emma Thorp Chief Growth Officer, RBW Consulting
