Understanding the mental health impact of a rare disease diagnosis

Patients with rare diseases may experience mental health conditions differently due to the unique challenges they face. These individuals often grapple with not only the physical symptoms of their conditions but also the psychological toll of living with a disease that is poorly understood, often misdiagnosed, and for which treatment options may be limited or non-existent. The interplay between these factors and the social determinants of health creates a unique landscape of mental health inequities. Learn how mental health factors uniquely affect patients with rare diseases, and what clinicians can do to provide the best patient care possible. 

Uncertainty and loneliness in diagnosis and treatment 

Patients with rare diseases often face delayed diagnosis with limited treatment options, which can have a significant impact on mental wellbeing. Many rare diseases are characterized by unpredictable symptoms, leading to a heightened sense of uncertainty for patients. The day-to-day unpredictability of their health status can increase frustration, anxiety, depression, and feelings of hopelessness. Schools and workplaces are often not equipped to accommodate individuals with rare diseases, and families may struggle to find inclusive settings to learn, work, or socialize. Social isolation and lack of understanding or support from their social network and healthcare providers can worsen feelings of depression or anxiety. These feelings may also be exacerbated by environmental or psychosocial stressors.

During the COVID-19 pandemic, patients with rare diseases were not only at increased risk of illness from the virus but also experienced higher rates of COVID-19 anxiety than the general population. Researchers also noted that patients with rare disorders had higher rates of mental health conditions than the general population during the time of the pandemic, a notable time of social isolation, frequent unpredictability, and lack of accessibility to non-urgent treatment providers.

Financial burden and access to care 

Patients with rare diseases often face significant financial burdens related to their condition, including the cost of medical care, transportation, and time away from work. These financial stresses can exacerbate mental health issues and can impede patients' ability to access the care and support they need. Additionally, there may be a limited number of medical professionals with knowledge and experience to treat a patient’s rare disease, limiting access to care and leading to longer wait times and potential delays in treatment initiation. 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. 

Social stigma and lack of awareness 

Individuals might feel misunderstood or overlooked by their healthcare providers or society at large, intensifying feelings of isolation and hopelessness. Clinicians who work with rare disease patients should be aware of these challenges and take a holistic approach that addresses both the physical and emotional aspects of the condition. By providing comprehensive care that considers patients’ unique needs, we can do our best to improve their mental wellbeing and help them to live healthier and more fulfilling lives. 

How can we help? Raising awareness of rare diseases 

2023 is the 40th anniversary of the Orphan Drug Act which gave hope to the hundreds of millions of people around the world who are directly affected by rare disorders (also known as "zebras," because they are less common than horses). 

Elsevier Health and Osmosis launched an initiative called The Year of the Zebra to educate current and future healthcare professionals, caregivers, researchers, patients, family members, and the public about these zebras.