This week’s blog is from Olivia Rowe who was shortlisted for her essay ‘Considering the breadth of challenges an individual with Primary Ciliary Dyskinesia may face, and how this can impact psychosocial wellbeing’ for the Student Voice Prize 2022. Get to know Olivia and read her essay in full below!
The 2023 Student Voice Prize returns in the Autumn so keep an eye out for the patient group pairing deadline coming soon.
‘Hello, my name is Olivia and I’m a graduate entry medicine student about to enter my second year of study.
I graduated with a degree in Cancer Biology & Immunology before studying medicine and became interested in rare diseases whilst carrying out my dissertation on a rare tumour called epithelioid hemangioendothelioma.
I was very lucky to talk to someone with primary ciliary dyskinesia about how this disease influences their life, and alongside my own research compiled some thoughts and ideas into this essay.
I hope you find it to be an interesting read!’
Considering the breadth of challenges an individual with Primary Ciliary Dyskinesia may face, and how this can impact psychosocial wellbeing.
Background
Primary ciliary dyskinesia (PCD) is a rare condition, occurring in ~1 in every 10,000, in which motile cilia are defective (1). PCD is a multisystem disease as motile cilia are present throughout the body, with roles as physical innate immune defences and in the female reproductive system (1). Abnormal motile cilia result in unpleasant symptoms and serious complications, for those individuals with PCD (1).
Inspired by a case study of ‘Patient X’, this essay will explore some of the challenges individuals with PCD may face, and how this may impact their psychosocial wellbeing. The experiences of Patient X have inspired much of the discussion, but specific details will be excluded to ensure patient confidentiality.
Considering an individual’s psychosocial wellbeing allows us to analyse individuals from a more holistic point of view, considering the whole person as opposed to just the biomedical evidence presented to the healthcare professionals (HCPs). This essay will be considering how the challenges those with PCD may face, may affect their psychosocial wellbeing.
Diagnosis
There are multiple challenges to explore surrounding diagnosis. Firstly, getting a diagnosis for a rare disease, such as PCD, can be complex. Patient X shared that their parents saw various HCPs over the first few years of Patient X’s life and were advised that their symptoms were simply a result of mild childhood infections, that were unserious and common.
After persistence from Patient X’s parents, they were finally diagnosed with PCD at four years old.
Shockingly, 35% of individuals with PCD address their symptoms with an HCP over 40 times before a thorough investigation and eventual diagnosis takes place (2). Although, another study suggested that 70% of patients actually were diagnosed after presenting to a HCP over 50 times (3).
An individual undergoing multiple medical appointments, repeatedly explaining their symptoms, can be incredibly taxing and can negatively impact one’s wellbeing. For example, Patient X shared how their parents felt they were “imagining” their child’s symptoms, after recurrent dismissal by HCPs. Moreover, the trivialisation of an individual’s symptoms is demeaning and can have serious consequences, including evoking a distrust in the medical profession, and even resulting in the progression of a condition, perhaps resulting in severe illness for that individual, that ultimately could have been mitigated, or possibly completely avoided. It is important that as HCPs we remind ourselves that our qualifications, whilst of course significant, do not provide us with a better understanding of the patient than they have of themselves.
Conversely, having a diagnosis of a rare condition can also be difficult when navigating more common health issues. Patient X describes how PCD has often been a ‘red herring’ to HCPs when they have presented with more common health complaints. As well as this, a fear of what the diagnosis can mean for the individual themselves, and their future can have a significant impact on their wellbeing.
Patient X bravely shared how through a lack of information, their life expectancy was predicted based on the average survival of individuals with cystic fibrosis (CF), a more common, but different disease. These challenges are likely to compromise the psychosocial wellbeing of individuals with PCD and may also impact the biomedical health of the individual if co-morbidities are missed as a result of the diagnosis of a rare disease.
It is also important to recognise how a diagnosis can also be very positive – and perhaps alleviate some challenges, such as feeling validated and having an answer. To address the challenge of late diagnosis, perhaps it needs to be considered how we can detect rare conditions earlier on in the process of individual’s presenting. This may be an issue that in part could be tackled from a policy and technology perspective – for example, systems we could implement to flag to HCPs when a group of symptoms could be related to an undiagnosed rare disease.
Management
Treatment and management that patients undergo takes time, and for PCD, it is advised that those with the condition carry out physiotherapy – if doing this perfectly, Patient X advised that this could take them over three hours every single day. Group that with working a full-time job, engaging in hobbies, and seeing loved ones – Patient X describes how individuals with PCD often make sacrifices so they can adhere to their treatment, and manage their condition.
Moreover, are the management plans given to patients with rare diseases plausible and compatible with the daily events of life? As HCPs, possibly we need to be more considerate of this. Perhaps, one way we could address this would be to ensure the decisions regarding a patient’s care, are made in tandem with the patient.
There should be time put aside to discuss options with patients, and ensure they are on board with any suggestions and plans we would like to put in place; because, ultimately, if a plan is unattainable, will it actually harbour any benefit to the patient? The risk is significant and could even harm their psychosocial wellbeing.
It could be that complete adherence to treatment, and hence not being able to work full-time, or missing out on social events, could be more damaging for that patient than adjusting their health management to make it more achievable – even if their biomedical health is then compromised in some way.
This again underlines the need for open, non-judgemental discussion between HCPs and patients with rare diseases – every patient is unique, with a different lifeworld that we should take the time to explore holistically. The fact HCPs may have limited knowledge of a rare disease, does not justify a lack of consideration of one’s complete needs.
Limited choice of treatment and management strategies may hugely impact an individual’s psychosocial wellbeing. For example, like for many rare conditions, the treatment options for PCD are very limited, especially compared to more common diseases. Rare diseases are less likely to have funding for further research and drug development, making the chance of finding a cure less likely.
In the case of PCD, many therapeutics have been taken from more abundant diseases, such as CF, and chronic obstructive pulmonary disease (4). Not only could this evoke feelings of marginalisation, but it also may be very daunting for individuals when it seems as if no progress is being made to improve their prognosis.
Another challenging aspect that Patient X shared regarding the management of their rare disease was about the ‘frustrating amount of admin’ that comes with it. This includes chasing referrals and correcting mistakes or delays from poor communication between different medical teams. For example, between specialist and community teams, and different specialities as PCD. Poor communication and teamwork therefore may result in poorer patient care.
Social Interactions
Individuals with PCD often have a chronic cough, as well as frequent occurrences of rhinitis and its related symptoms. These symptoms, as well as being frustrating and uncomfortable, can also be very stigmatising for individuals, possibly causing a lack of self-confidence. Patient X shared that others had advised Patient X to stop smoking, in response to their chronic cough, despite those “advisors’ being completely unaware of Patient X’s medical condition.
Furthermore, the lack of awareness of diseases such as PCD can be extremely isolating; Patient X shared that they didn’t meet another individual with the condition until they were mid-adulthood. What’s more, the lack of awareness meant that their family and friends are often not aware of how the disease affected them as an individual.
They highlighted how they felt appearing physically “healthy”, caused others to question the severity of what is in reality a very serious disease.
Finally, Patient X described that PCD is often referred to as a less serious version of CF. They stressed that PCD is not cystic fibrosis, it is a different disease, caused by different genes, with fewer treatment options.
Diminishing PCD to a less severe type of a better-known disease is inaccurate, unhelpful, and emphasises the marginalisation of individuals with PCD.
Conclusion
As a future healthcare professional, the benefits of having a discussion with an individual with PCD has been a privilege. It has made me aware of a condition that I otherwise may have not come across but also has highlighted some significant challenges that individuals living with PCD may face.
Moreover, being aware of these challenges provides insight into how we can practice as healthcare professionals that are sensitive, non-judgemental, and acknowledge the existence of rare diseases. Just because rare diseases are ‘rare’, doesn’t mean we will not encounter them in our practice.
The care we provide to individuals with rare diseases can hugely affect their psychosocial wellbeing, and as healthcare professionals, it is our duty to preserve this, as much as one’s physical health, by working as a team, including the patient.
There isn’t an easy fix for making the experience of those with rare diseases better, but there is certainly a multitude of improvements we can make, such as raising awareness of rare diseases and reconsidering our attitudes towards them, and the individuals affected.
1. Lucas, J. S., A. Burgess, H. M. Mitchison, E. Moya, M. Williamson, C. Hogg, and U. K. National PCD Service. 2014. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child 99: 850-856.
2. Behan, L., A. Dunn Galvin, B. Rubbo, S. Masefield, F. Copeland, M. Manion, B. Rindlisbacher, B. Redfern, and J. S. Lucas. 2016. Diagnosing primary ciliary dyskinesia: an international patient perspective. Eur Respir J 48: 1096-1107.
3. Sommer, J. U., K. Schäfer, H. Omran, H. Olbrich, J. Wallmeier, A. Blum, K. Hörmann, and B. A. Stuck. 2011. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol 268: 383-388.
4. Raidt, J., J. Brillault, F. Brinkmann, A. Jung, C. Koerner-Rettberg, A. Koitschev, H. Linz-Keul, T. Nüßlein, F. C. Ringshausen, J. Röhmel, M. Rosewich, C. Werner, and H. Omran. 2020. [Management of Primary Ciliary Dyskinesia]. Pneumologie 74: 750-765.
Thank you again to Olivia for submitting her brilliant essay!
We hope you enjoyed reading it and don’t forget the Student Voice Prize will be returning this Autumn 2023.
