The following essay, written by Amber Naeem, was submitted as an entry for the Student Voice Prize.
The Student Voice Prize is an annual, international essay competition that raises the profile of rare diseases within the medical field, particularly with medical students, nurses and scientists who may have never come across rare diseases in their training.
“Amber is a third year medical student studying at King’s College London. She entered the ‘Student Voices’ essay competition hoping to raise awareness about the unique challenges faced by individuals with rare diseases, including limited treatment options, diagnostic delays, and lack of public understanding. This was an opportunity to help catalyse positive change and inspire action towards better care and support for those affected by rare diseases.”
The CJD Support Network is very grateful to Amber for taking the time to listen to and highlight the experiences of people affected by CJD and their families.
A rollercoaster of uncertainty: a comparison of two families’ journeys with CJD
Introduction
The patient experience is akin to a rollercoaster; twists and turns that mirror the undulating landscape of shock, grief, happiness, sadness, confusion, hope and regret that one may encounter within the medical realm.
Having a rare disease merely exemplifies this journey. Affecting less than 1 in 2,000 people within the UK [1], each diagnostic step is tinged with uncertainty – from the initial challenge of the diagnostic process, influenced by a lack of awareness of the condition and its presentation, to treatment obstacles stemming from a deficit of gold standard guidelines, funds and equipment [2]. For one with a rare disease, their rollercoaster is undeniably steep, inundated with loops, curves and drops that represent the psychological, emotional and physical challenges encountered throughout their odyssey.
For many patients suffering from rare conditions, death is inevitable. The initial safety bar of hope disintegrates into fear, shock and solemn acceptance. Hence, supportive treatment and palliative care provides the sole cornerstone of management [3]. For clinicians, this can result in feelings of anxiety, stress and burnout [4]. For patients, the added trauma and stress of an already difficult diagnosis, combined with enduring debilitating symptoms, can greatly impact their mental and physical wellbeing. For families, they are often left in limbo, with no direction of support and assurance. Through the CJD Support Network, I had the privilege of speaking to two families who had both suffered from the devastating loss of a loved one from the rare and fatal neurodegenerative disorder, Creutzfeldt-Jakob disease (CJD). Conversing with the families of patients with rare diseases has shown me that whilst the outcome may be fixed, the journey itself can be strikingly diverse. Uncertainty plays a big factor, yet the effect this can have can be greatly influenced by the actions of the medical team and the successes and pitfalls of their communication.
What is CJD?
Creutzfeldt-Jakob disease (CJD) is part of a group of rare prion disorders affecting the CNS, known as transmissible spongiform encephalopathies [5]. An abnormal misfolding of the prion protein PrP in the brain leads to nerve degradation, spongiform changes and astrocytic gliosis [6]. Over 90% of patients die within the first 6-12 months of symptom onset.
Common symptoms include a rapid decline in co-ordination and mobility, myoclonus, cognitive impairment and an akinetic muteness [7]. These nonspecific manifestations can be difficult to diagnose, often contributing to a delayed or incorrect diagnosis.
A comparison of two families’ stories, and what we can learn from them.
I first spoke to Eve, who, after losing her father to sporadic CJD in May 2016, committed herself to advocating for greater awareness of CJD. Sam, Eve’s father, was 66 when he first began experiencing symptoms. A retired Methodist minister, he loved singing in the choir and volunteering at his local community nature reserve. The family had just gone on holiday in February when Eve noticed Sam was acting out of character- exhibiting signs of reclusiveness, and complaining he couldn’t see properly. Mood and psychiatric symptoms soon followed – confusion, forgetfulness and upset. A CT scan, XRAY and urine sample all came back normal. In March, Sam rang his wife in confusion, unable to remember the date or year. Feeling terrified, she rang the hospital in response, prompting a same day admission to the neurology team. This was incredibly terrifying for Eve, but the swift action of the medical team made her feel heard and assured. Although the MRI indicated dementia, Eve had noticed some instances that didn’t fit with her father’s presentation. Recalling a university lecture on CJD, she approached the neurologist with her worries. The neurologist attentively addressed her concerns and agreed with her diagnosis, reading her emotions and asking if there was anyone she could speak to for help. This open candour resonates with Eve even now.
Not much was known about the condition, eliciting feelings of powerlessness and uncertainty. Knowing there was no treatment for the disease shattered Eve’s belief about ‘the world and the medical profession’. This notion proved especially challenging for Eve’s mother to accept, who was desperately trying to reason why this had happened.
Eve stresses that the interactions she had with the doctors and the teams following the diagnosis were even more impactful than the referrals themselves. The local palliative care team coordinating her father’s care alongside the GP were incredibly supportive, alleviating those feelings of uncertainty – carrying out regular assessments, directing Eve to the national prion clinics, and prescribing pain medications to support Sam throughout the weeks. ‘Although the outcome was the same – you lose someone that you love – I would say that our journey was as good as we could’ve hoped for and was an example of good care,’ Eve shared.
Mary’s journey was not so easy. Mary was a fun-loving family focused person – from teaching her granddaughter how to make unique styles of jewellery and bracelets, to spending quality time with her husband, Mary was her daughter Luna’s rock – her voice of reason and parental role model. April 2022 saw 68-year-old Mary’s initial presentation – her personality had begun to change; she was making strange comments and getting jealous of her daughter spending time with her husband. This gradually developed, and soon she was also suffering from urinary incontinence, reduced mobility, feeling cold and cognitive difficulties. In June, Luna took her mum to the GP, who attributed the symptoms to bradycardia. After a long discussion and Luna pointing out to the GP that her symptoms did not fit this diagnosis, the GP agreed to an MRI, yet declined a referral to the neurologist.
Luna and Mary left feeling ignored, frustrated and full of uncertainty.
The MRI revealed brain shrinkage at a prior stroke site, common for someone of Mary’s age. Mary was now requiring aid to walk, move and stand. Luna felt as though no one was listening to her when she said her mum’s decline was unusual – ‘Having to challenge the medical team at every step was soul destroying’. A pacemaker insertion to treat the ‘bradycardia’ did not resolve her symptoms, proving a misdiagnosis. Parkinson’s and LBD was later ruled out, yet there was insufficient evidence to exclude anxiety, depression or dementia. This prolonged diagnostic period only served to further exacerbate the family’s emotional suffering. It was only 3 months later when Luna self-referred her mother to the Edinburgh Prion clinic, that she finally felt she was being listened to. The team gave her family the time to explain what they had experienced, taking Mary through various cognitive assessments and tasks. A formal diagnosis was eventually made, after a long and arduous mentally challenging eight months of uncertainty and confusion. These were the individuals that finally made a positive influence on Mary’s journey, and a referral to social services, OT and PT was promptly made.
Mary suddenly began to deteriorate. Luna flagged concerns yet was disregarded by the GP who continued to disbelieve her; ‘I was asked to describe why I thought my Mum was dying by a local GP’.
Mary passed away a week later.
Mary’s odyssey has etched a permanent imprint on the lives of her entire family. ‘We feel cheated of time, that the HCP stole precious time from us’, Luna laments. Alongside the trauma that the experience left her with, Luna has lost confidence in herself as a nurse and is only now starting to build this back.
‘We as a family have always trusted the NHS and the people working within this amazing service, but this experience shook that core belief we all shared in it’.
Discussion:
The stark differences in the standard of care Mary and Sam experienced only serves to highlight the influence of effective communication on the patient journey. Mary’s diagnosis was fraught with uncertainty, equating to a lack of help and support from wider services. For Sam, the ambiguity surrounding the presentation of disease manifested as extreme concern about his future – ‘In life you expect to say goodbye to other people, but you don’t expect to say goodbye to yourself’.
As healthcare professionals, we have incredible responsibility not only to our patients, but to their families as well, and every small step we take has a monumental impact on the patient odyssey. Uncertainty is fraught at every step of the diagnostic process, yet it is our actions that can help deal with this uncertainty. Communication is an essential pillar in mitigating against this, ensuring there is co-ordination between services [8], and candour with patients at every decision [9]. Increasing awareness amongst HCPs and medical students can help recognise symptoms faster, aiding with diagnosis. Improving access to specialised treatment and care is fundamental – especially addressing the ‘postcode lotteries’ of care standards for patients living with rare diseases [10]. This is a beginning, yet there is so much more to be done.
I am incredibly grateful for my interactions with Luna and Eve, having challenged and reflected upon my own ideals regarding what type of doctor I would like to be in the future. I hope this will shape my vison for compassionate and patient-centred care throughout my career.
References:
1.Department of Health & Social Care. The UK Rare Diseases Framework [Internet]. 2023 [cited Nov 13 2023]. Available from: https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2023
2.Embracing uncertainty to advance diagnosis in general practice. Kirsti Malterud, Ann Dorrit Guassora, Susanne Reventlow, Annemarie Jutel. British Journal of General Practice 2017; 67 (659): 244-245. DOI: 10.3399/bjgp17X690941
3.Adams LS, Miller JL, Grady PA. The Spectrum of Caregiving in Palliative Care for Serious, Advanced, Rare Diseases: Key Issues and Research Directions. J Palliat Med. 2016 Jul;19(7):698-705. doi: 10.1089/jpm.2015.0464. Epub 2016 Jun 1. PMID: 27249541; PMCID: PMC4931351.
4.Patient and clinician experiences of uncertainty in the diagnostic process: Current understanding and future directions, Ashley N.D. Meyer, Traber D. Giardina, Lubna Khawaja, Hardeep Singh. Patient Education and Counseling, Volume 104, Issue 11, 2021, Pages 2606-2615, ISSN 0738-3991. https://doi.org/10.1016/j.pec.2021.07.028.
5.World Health Organisation: WHO manual for surveillance of human transmissible spongiform encephalopathies, including variant CJD. Geneva.2003.
6.Ironside JW, Ghetti B, Head MW, et al.: Prion diseases. In: Greenfield’s neuropathology, 8th ed., Eds: Love S, Louis DN, Ellison DW. Chapter 16, Hodder Arnold, London.2008;1197–1273.
7.Mackenzie G, Will R. Creutzfeldt-Jakob disease: recent developments. F1000Res. 2017 Nov 27;6:2053. doi: 10.12688/f1000research.12681.1. PMID: 29225787; PMCID: PMC5710312.
8.Beaudin CL, Lammers JC, Pedroja AT. Patient perceptions of coordinated care: the importance of organized communication in hospitals. J Healthc Qual. 1999 Sep-Oct;21(5):18-23. doi: 10.1111/j.1945-1474.1999.tb00985.x. PMID: 10620880.
9.Quick O. Duties of Candour in Healthcare: The Truth, the Whole Truth, and Nothing but the Truth? Med Law Rev. 2022 May 30;30(2):324-347. doi: 10.1093/medlaw/fwac004. PMID: 35312762; PMCID: PMC9155592.
10.Joseph A Roscamp, David P D’Cruz, The funding lottery for potentially life-threatening rare diseases, Rheumatology, Volume 57, Issue 1, January 2018, Pages 1–2, https://doi.org/10.1093/rheumatology/kex004
Abbreviations:
CJD – Creutzfeldt-Jakob Disease
HCP – Healthcare Professional
LBD – Lewy Body Dementia
NHS – National Health Service
Pseudonyms have been used to protect the identity of the patients and their families.