The Impact of a Rare Disease Diagnosis on Mental Health

PRA/ICON's Center for Rare Diseases works to educate and advocate for rare disease patients. We understand the impact of rare diseases on patients and work to facilitate studies and clinical trials that further rare disease research, including mental health research.

Key Highlights

Learn how a rare disease diagnosis and treatment plan can affect a patient’s mental health and what the industry is doing to help.


Many patients living with rare diseases also struggle with mental illness. Just as symptoms vary between patients, so do their experiences with mental health.

PRA Health Sciences
PRA Health Sciences

How Do Physical and Mental Health Work Together?

Many people view physical and mental health as separate entities, though the two are closely linked. Physical health problems do not necessarily cause a mental health issue, but they can contribute to worsening mental health symptoms or act as a catalyst for an issue that the person may have had a predisposition for developing.

For example, if a person is prone to depression, they may not have had symptoms before their rare disease diagnosis. However, if they develop depression after the diagnosis, that does not mean the disease caused their depression. Rather, the disease may have created conditions that contributed to the development of depression. Additionally, some patients may have depression symptoms specifically linked to their disease and recover later. These patients with serious medical problems often develop a chronic form of Adjustment Disorder, which is characterized by a host of mood and anxiety symptoms.

Mental health issues can worsen a person’s physical illness, contribute to physical ailments not previously present, and cause physical symptoms associated with the mental illness itself. Good mental health can keep a person physically healthy, while poor mental health can increase their risk of certain physical illnesses and disorders, from arthritis to cancer and heart disease. Chronic stress, for example, leads to a state of increased cortisol tone secondary to activation of the HPA axis.

Potential Effects of Rare Disease Diagnosis on Mental Health

While symptoms will vary from patient-to-patient, a rare disease diagnosis can trigger a stress response, which can progress over time and trigger issues like depression and anxiety. Likewise, mental health symptoms may lead to physical symptoms, including but not limited to:

  • Fatigue or low energy
  • Loss of appetite
  • Difficulty concentrating
  • Insomnia
  • Loss of interest in activities the person normally enjoys
  • Headaches, digestive issues, or achiness without a definitive cause and that doesn’t respond to treatment

Understanding what to look for when people struggle with mental illness alongside physical illness can create better outcomes for patients, improve their quality of life, and help patients feel supported. Offering mental health resources for patients can mean they receive a more comprehensive treatment plan that looks at the person as a whole, not only as symptoms of an ongoing illness.

How Are Rare Diseases and Mental Illnesses Linked?

Chronic illnesses in general can act as a trigger for mental health issues. But rare diseases present unique challenges. They involve factors beyond the symptoms of an illness interfering with their lives. Many rare disease patients deal with challenges that include:

  • Nature of the disease: Many rare diseases come with chronic symptoms and complex causes that impact a person’s daily life. These issues cause uncertainty alongside their symptoms, which patients and their doctors may not understand. It can mean waiting for a diagnosis and dealing with long-term symptoms. Additionally, receiving the correct diagnosis doesn’t always mean relief from mental health issues. Over time, stress related to the disease can accumulate, leading to mental health conditions that may create or worsen co-occurring disorders.
  • Prognosis: Many rare diseases come with an unknown prognosis. That information can create fear, depression, and other stress responses as people learn to cope with what having a rare disease diagnosis means for their future.
  • Lack of awareness: Most people don’t know about rare diseases, which leads to a lack of support from the community, including friends and family members. For some patients, diagnosis is the first time they’ve heard of a particular disease. Consequently, a rare disease patient may feel lonely, hopeless, and have low self-esteem. Other people may not understand the disease, which can lead to a lack of accommodations, insensitivity, and exclusion.
  • Inadequate treatment: In addition to a lack of awareness in the general community, many clinical doctors don’t have the necessary knowledge to diagnose or treat rare diseases. Even though many patients actively and aggressively pursue diagnosis and treatment, 90% of rare diseases lack effective treatments. Living with continued symptoms without support or expertise from healthcare professionals can leave patients feeling hopeless and affect their mental health.
  • Impact on daily life: Living with a rare disease can require a change or accommodations in a person’s routines, abilities, and relationships. It can impact mobility, energy, emotions, social life, future goals, and many other areas of a person’s life, including a significant financial burden. It may also require them to depend on others for help in their daily lives. The impact varies, and so does the resulting impact on their mental health. These changes may also lead to increased feelings of isolation and higher pain levels.

Options for Mental Healthcare After Rare Disease Diagnosis

Mental healthcare for people with rare diseases is a collective effort. It requires input from mental health professionals, rare disease experts, patient advocacy groups, and patients themselves to create environments and plans that target the right parts of patient mental health.

Currently, rare disease patients have some resources for support and mental health treatment, including:

  • Patient support groups: Support groups can be general or specific to a patient's condition. These groups give patients a community to feel welcome and understood, which can be difficult after receiving a rare disease diagnosis. General support groups might focus on symptoms of various diseases, like immune system dysfunction or mobility changes, whereas condition-specific groups focus on that particular disease or several similar ones. These groups may also provide other services and resources, like recommending doctors, organizing events, and taking community action for awareness.
  • Patient communities: In-person and online communities can help patients connect with others. These groups give patients someone to talk to who understands their situation, and they can offer many of the same benefits as an in-person group. Patients can often find these communities on social media platforms, like Facebook, Twitter, and Instagram.
  • Therapy: Most therapists don’t have expertise in rare diseases, but therapy can still help rare disease patients. Therapy can work to address a patient’s feelings and create healthy coping skills as the patient deals with mental health issues. Cognitive behavioral therapy (CBT) has proven useful for many patients, as shown in the Oregon State University study, and receiving support from a professional can lead to personal progress.
  • Education and advocacy: Beyond therapy and groups, some patients feel more at ease with having more information about their disease. Additionally, educating more people creates a larger support system. Advocating for resources, clinical trials, and other care can help patients feel more supported.

Contact us to discuss how we are redusing the burden on patients through Decentralized Clinical Trials

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