Endless Uncertainty: Living with a rare condition

This piece, exploring uncertainty in rare diseases, was a runner-up entry in beacon for rare diseases and Medics4RareDiseases' Student Voice competition.
Endless Uncertainty: Living with a rare condition

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As part of the Student Voice competition, I had the pleasure of speaking to Charlotte, a patient advocate from Cavernoma Alliance UK (CAUK).  Through Charlotte’s story we explore the uncertainty that people with rare conditions experience. Each individual story is unified by a diagnostic odyssey, experiences of feeling unheard and unsupported, and uncertainty, which is often exacerbated by poor communication from clinicians. Whilst, as Charlotte said, doctors can't be “human encyclopaedias” who know every single rare condition, they need to communicate uncertainty in a way that does not cause, or contribute to, emotional and psychological distress in patients and families.

 Case Study 

In August 2017, Charlotte, a 21 year old university student, experienced left-sided facial numbness which promptly resolved. This returned in November 2018, and Charlotte was seen by a neurologist who organised an MRI scan for early 2019, as “they thought it might be multiple sclerosis”.

In March 2019 Charlotte had an appointment to discuss scan findings; something had been spotted on the scan, possibly an arteriovenous malformation (AVM), but doctors were unsure. By now, Charlotte was also experiencing difficulty chewing and swallowing due to facial numbness and fatigue. The journey of receiving various diagnoses is common for those with rare conditions, with patients receiving an average of three misdiagnoses before reaching the correct diagnosis [1]. Charlotte was left feeling lost and anxious, and this was further exacerbated by clinicians’ failure to effectively communicate their uncertainty. 

A month later, Charlotte experienced an intense headache followed by dizziness, and difficulty standing and walking. During her month long hospital stay Charlotte had 5 CT head scans, showing signs of bleeding and brain swelling, and she oscillated between being “okay and awful”.

By the end of her stay, clinicians started to query whether this was a cavernoma rather than an AVM. This was not communicated to Charlotte, who only uncovered this by reading her referral letters. Experiences like these, where communication is disjointed, or even non-existent, can lead to a breakdown of the doctor-patient relationship. Effective communication does not only ease emotional and psychological stress for patients, but also improves patient outcomes [2]. A prolonged delay between initial symptoms and diagnosis, the ‘diagnostic odyssey, is common in rare conditions, with over 50% of patients left in a state of uncertainty for over a year before a diagnosis is reached [3].

Soon after discharge, Charlotte had an appointment with the neurosurgeons and was finally told she had a “left cerebellar cavernoma in the cerebellar pontine angle”. From a patient’s perspective this was “a bunch of medical jargon”.

“I don’t think I was ever told what a cavernoma is.”

Cavernomas are raspberry-shaped capillary malformations that occur in the blood vessels of the brain and spinal cord. When they press on the brain, or bleed, this results in neurological symptoms including seizures, headaches, and focal neurological deficits such as weakness and numbness [4,5]. Symptomatic cavernomas are experienced by only 1 in 2,700 people [6]. 80% are sporadic, and the remaining 20% are familial [4].

The lack of information available regarding cavernomas, their progression over time, and treatment options, left Charlotte feeling fearful and powerless. Her search for information led her to discover CAUK, a charity and patient advocacy group providing emotional and psychological support, alongside medical information and resources [7].

Charlotte was told that cavernoma surgery was very unlikely, and by the end of 2019, Charlotte’s difficulties walking had resolved. Whilst some symptoms persisted, normality was in sight.

Unfortunately, this didn’t last long. Less than a month later, Charlotte experienced her most significant symptoms yet. She was dizzy, off-balance, had double vision and struggled to walk. A CT scan showed a cavernoma bleed in the brain and she was urgently transferred to neurosurgery. After months of being told that an operation was very unlikely, she was told she could have brain surgery in 6 days. This operation was not routine or low risk; there was a 5% chance of dying, a risk that Charlotte may never be able to swallow, and a risk that she will experience permanent facial drooping. To Charlotte, the risk of dying was less significant; “I wasn’t living”. However, the threats to her quality of life, and the unknown likelihood of these occurring, were most prominent. Furthermore, there was no guarantee that surgery would be curative.

Charlotte’s surgeon had performed cavernoma surgery twice. For one patient the surgery was successful, however the other patient was left with significant morbidity.

Charlotte only had two options: undergo the operation and risk uncertain complications and cavernoma reoccurrence, or do nothing and continue to ‘live’ with poor quality of life and deteriorating mental health.

Charlotte’s clinicians were inexperienced with cavernomas and were also navigating uncertainty. Clinicians struggling with uncertainty may be more reluctant to ‘disclose uncertainty to patients’ [8], and Charlotte experienced this through interactions with clinicians who she felt “didn’t want to say they didn’t know what was going on”.

Meanwhile, Charlotte’s family were in a different city. She felt a responsibility to maintain composure for them, but the sudden escalation, and need to operate, placed incredible stress on her family, who felt anxious and helpless. The impacts of rare disease, and their synonymity with uncertainty, not only impacts the individual but also their family [3].

Charlotte had the operation, and the odds were in her favour. The cavernoma was removed, and following neurorehabilitation her symptoms and quality of life began to improve, and she was able to return to university.

Charlotte, now a PhD student, still battles with the uncertainty and unpredictability of her condition. “What if the cavernoma bleeds again? I don’t want to live in constant fear of another bleed, but the thought’s always there”. She isn’t completely symptom free and experiences fatigue, meaning she must meticulously plan her day to get work done without compromising her health.

Charlotte was never asked about her emotional and psychological health. She found that “doctors prioritise physical health and ignore mental health, and lack a holistic approach”. Sadly, this is a common experience for those with rare conditions. Despite over 40% of these patients experiencing moderate or severe depression [9], a survey of patients and carers identified that almost half had never been asked about their mental health by healthcare professionals [10].

Final thoughts

Whilst uncertainty isn’t unique to rare conditions, there’s no doubt that people with rare conditions experience the extremes of uncertainty, which is amplified rather than eased by clinicians’ ineffective communication. Listen to patients, direct them to charities and patient advocacy groups, be holistic and focus on mental health alongside physical health.

Many thanks to Charlotte for sharing her story, and CAUK for all their support.


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