“Although rare conditions by definition affect no more than 1 in 2000 individuals, there are over 6000 known conditions so that collectively they represent a substantial health burden, with an estimated 3.5 million affected individuals in the UK,” Spencer-Tansley and colleagues wrote in BMC Health Services Research.
The UK population is around 67 million; this means that approximately 5% of individuals living in the UK are struggling with a rare disorder.
There are inherent challenges of living with a rare and chronic disease—struggling with symptoms while at school/work, spending a substantial amount of time for treatment/follow-up visits, and living with the stigma of a condition not readily understood by family members and friends.
“Stigma” is a loaded word; its modern usage implies an attachment of shame that is often completely unwarranted; it is a curious position of not quite being able to fit in—and feeling guilt for it.
Many patients living with a rare disorder can identify with deep feelings of isolation and sadness. This can be the case even if they choose to see the glass half full and put their best foot forward in life. Symptoms of the disease mingle with intrusive thoughts and feelings, creating a picture of vulnerability that is challenging for others to empathize with from the outside.
Myasthenia Gravis and Mental Health
Myasthenia gravis is a rare autoimmune disease that affects around 700,000 individuals globally. It is a disease of the neuromuscular junction; the transmission of nerve signals to the muscles are impaired, rupturing the nerve-muscle connection.
Approximately half of the patients diagnosed with this condition present with ocular manifestations. Fatigue and accompanying respiratory weakness is also a common characteristic of this disorder; approximately 30% of patients need mechanical ventilation.
Read more about myasthenia gravis etiology
Medical literature indicates that there is a correlation between myasthenia gravis and poorer psychological outcomes; some studies suggest that depression/anxiety affects 1 in every 5 patients. The progressive nature of this disease increases disability as time goes by; this has a significant impact on patients’ quality of life and mental health.
“Psychological outcomes affect family, social, occupational, and personal aspects of patients,” Nadali and colleagues wrote in Brain and Behavior. “In addition, psychiatric and emotional disorders may lead to increased risk of mortality.”
They hence conducted a literature review to investigate the prevalence of anxiety/depression among patients with myasthenia gravis. They selected studies that included a diagnosis of myasthenia gravis made by a physician, as well as reports of depression/anxiety validated by patient-reporting tools or structured interviews. A total of 38 studies were included in their final analysis.
Two self-reporting questionnaires stood out in assessing mental health — the Beck Anxiety Inventory (BAI) and the Hospital Anxiety and Depression Scale (HADS). The BAI was used in 4 studies and the HADS was used in 3; both screening tools required individuals to rate symptoms on a multipoint scale. The prevalence of depression was 52% based on the BAI and 21% based on the HADS. The pooled prevalence of depression and anxiety across the 38 studies was 36% and 33% respectively.
“According to our results, anxiety and depression are major problems among [myasthenia gravis] patients and the prevalence of both anxiety and depression is high even when compared to other autoimmune diseases,” Nadali et al wrote. “Therefore, identifying the related factors and developing effective intervention strategies for [myasthenia gravis] patients are needed.”
Indeed, as our understanding of the mental health burden of rare diseases grow, so does our responsibility to manage it well. Spencer-Tansley and colleagues conducted a survey of the experiences of individuals with rare disorders with regards to their mental health. They found that when patients present with rare symptoms that do not immediately fit any known diagnoses, both knowing and not knowing the real underlying cause can be distressing.
“It may seem counterintuitive that both not having a diagnosis, and receiving a diagnosis, can lead to poor mental health, but both offer challenges; for example, the anxiety of not knowing what is ‘wrong’ on one hand, and the shock of a poor prognosis on the other,” they wrote.
Read more about myasthenia gravis treatment
They also reported that less than 1 in 4 respondents felt that healthcare professionals considered physical and mental health to be of equal importance. Approximately half of respondents revealed that they were never asked about their mental health by healthcare professionals.
Based on this survey, Spencer-Tansley and colleagues made a number of recommendations that I wholeheartedly support. First, they recommend that healthcare professionals develop a capacity to handle topics regarding mental health with sensitivity and routinely signpost patients to sources of support. Second, they recommend that coordinated rare disease services should include mental health needs assessments and access to mental health services.
At Rare Disease Advisor, we aim to raise the profile of often-overlooked diseases in the hopes that meaningful steps can be taken to help patients feel more visible. Our common humanity — our capacity for joy and hope, as well as sorrow and worry — is a thread running through our modern healthcare system. By acknowledging both physical and mental wounds, we are moving closer towards holistic care for the whole individual.
Spencer-Tansley R, Meade N, Ali F, Simpson A, Hunter A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health ServRes. Published online May 14, 2022. doi:10.1186/s12913-022-08060-9
Nadali J, Ghavampour N, Beiranvand F, et al. Prevalence of depression and anxiety among myasthenia gravis (MG) patients: a systematic review and meta-analysis. Brain Behav. Published online December 10, 2022. doi:10.1002/brb3.2840