Rare disease patients may struggle with the physical symptoms of their condition, but also the psychological burden of living with a disease that is poorly understood, often misdiagnosed, and has limited (or non-existent) treatment options.
Managing a rare disease—attending appointments, treatment regimens, and time spent resting or recovering—takes rare disease patients away from doing and spending time with people they love. These responsibilities can leave them feeling defeated, burnt out, and lonely—some may even long for their old self.
Further complicating mental health issues is some rare diseases come with psychiatric symptoms. For example, autoimmune conditions like myasthenia gravis are linked to depression. Additionally, certain medications (like steroids or opioids) used to treat rare diseases have anxiety and depression as potential side effects.
You’ll never truly know what a rare disease patient is going through. But working to understand the impact on mental health with a rare disease diagnosis enables you to be an ally for someone with a rare disease.
Uncertainty
Many rare diseases are characterized by unpredictable symptoms—leading to an increased sense of uncertainty. This unpredictability can fluctuate from day to day, which only escalates feelings of frustration and hopelessness, and anxiety and depression.
Rare disease patients may also experience a delay in receiving a diagnosis—a significant risk for depression in people with a rare disease. Feelings of uncertainty can also arise because rare disease patients are often dismissed, mislabeled, or misdiagnosed by healthcare professionals.
Loneliness
Research shows living with a chronic healthcare condition—especially a rare disease—is among the highest risk factors for loneliness. This is because no one except the rare disease patients knows what they’re going through and finding a community is challenging.
Rare disease patients may feel like they’re missing a sense of purpose because time spent managing the condition doesn’t result in a sense of accomplishment like other tasks. For example, going to work creates a sense of satisfaction by doing a job well or enjoying the results of a freshly clean home. Managing a rare disease condition may keep them from pursuing a dream or doing things that bring them joy.
Loneliness can also be experienced due to social isolation and lack of understanding and support from the community. Many spaces—school, work, and public—are often not equipped to accommodate individuals with rare diseases. A lack of inclusive settings limits their ability to participate, further aiding feelings of loneliness.
Financial Burden
Patients with rare diseases often face significant financial burdens related to their condition. These may include the cost of medical care, transportation, and time away from work.
Financial stress can exacerbate mental health issues and further impede a rare disease patient's ability to access the care and support they need.
Access to Care
There may be a limited number of medical professionals with the knowledge and experience to treat their rare disease diagnosis. Limited access to care leads to longer wait times and potential delays in treatment.
Even if treatment options are available, the cost of a new medication or therapy can be substantial, increasing the financial burden while also increasing stress and anxiety because of the limited access to care.
Social Stigma
Rare disease patients face significant stigma and ableism (discrimination and prejudice against people with disabilities). Stigma occurs when a particular characteristic or identity is considered socially unacceptable or inferior, contributing to feelings of social unfairness and negatively impacting those with the stigmatized trait.
Social stigma can be present if rare disease patients feel misunderstood or overlooked by their healthcare providers or society at large.
Navigating the ongoing emotional challenges of living with a rare disease is overwhelming. Sensitivity and understanding of mental health are necessary for rare disease patient care.
