May 20, 2022 - Written By: Maria Arini Lopez, PT, DPT
May is Mental Health Awareness Month which prompted the question—how does a rare disease diagnosis, chronic illness, or disability affect a person's mental health?
As a physical therapist, I encountered many people with rare diseases and physical ailments who were the peppiest, kindest, most happy-go-lucky people I'd ever met. At first, I honestly questioned if this was a façade—a false front my patients put up to cope with their health conditions and hide their pain. As I got to know them better, their personalities never changed, so I began to believe that some people truly can remain genuinely happy and energetic despite a diagnosis, condition, or disability.
On the rare occasion when these usually joyful people would come into my room sad, angry, quiet, or not quite themselves, I would immediately take notice and ask them what was on their mind. It was easy to tell when something was bothering them because it was so out of the ordinary. This experience taught me that a person should never assume that someone with a certain diagnosis or health condition is miserable, depressed, or anxious all the time.
On the other hand, many people I encountered struggled with anxiety, depression, and loneliness. The connection between the mind and the body is so strong—with each influencing the other significantly. For example, when you are sick with a cold or flu, you usually aren't happy and energetic. When you have just lost a loved one or pet or recently broke up with a significant other, your body feels drained of energy and almost unresponsive. As a visceral manipulation practitioner, I was taught that emotions often spill over into the body and can contribute to physical manifestations. Each organ connects to a specific emotion, mental attribute, or experience. This is what it means when people have "visceral reactions".
A rare disease diagnosis, disability, or chronic illness certainly has the potential to affect mental health. Based on patient surveys released in April 2013 in the Rare Disease Impact Report, 75% of patients living in the US with rare diseases reported that their disease caused depression, 86% reported stress and anxiety, and 65% felt isolated from family and friends. Similarly, 72% of caregivers reported depression and 89% reported stress and anxiety.
So many complex factors contribute to these feelings and emotions.
The first is living through the diagnostic odyssey. The diagnostic odyssey is an emotional rollercoaster where the stress and anxiety of shuffling to and from a variety of healthcare providers in search of answers, an accurate diagnosis, and solutions to effectively manage debilitating symptoms is combined with disappointment, frustration, anger, and helplessness when the answers do not come, the diagnosis is never found, or there are no available treatments or solutions that have been developed. Often as a patient, it feels like your words and concerns are being dismissed, your symptoms feel invalidated, or you are labeled "the complicated case" who gets passed around from specialist to specialist, making it very apparent that they haven't the slightest clue how to treat you.
How often are you told "it is all in your head"?
How often did I see my patients come in crushed when they were misdiagnosed with conversion disorder just because their symptoms did not produce results on imaging or blood tests?
How often are serious medical conditions not taken seriously?
How often do providers genuinely believe that mental symptoms (which actually are caused by the rare disease itself) are the main diagnosis and fail to see the underlying cause?
How often do those symptoms mimic a mental health disorder so another misdiagnosis gets added to the list?
What if a person legitimately has both a rare disease and a mental illness?
What if some of the medications prescribed to manage disease symptoms also cause mental side effects?
Often, these frustrating interactions with medical providers foster mistrust of the medical system and intensify already existing feelings of invalidation, hopelessness, stress, and anxiety. When these interactions result in poor healthcare experiences or incorrect treatments for misdiagnoses result in terrible physical reactions, patients begin to hesitate and honestly fear any interactions with providers. Many of my patients described these experiences as causing medically induced post-traumatic stress disorder (PTSD).
As part of the diagnostic odyssey, enormous amounts of time, financial resources, and energy are spent traveling from one medical appointment to another, making it difficult for adults to continue to earn a stable income (taking time off work) and children to attend classes, study for exams, and graduate with their peers on time. Obtaining adequate funding for ongoing treatments, medical devices and equipment, and adaptations to a home or vehicle compounds the stress and anxiety from a financial perspective. How it is possible to pay for needed treatments or devices out of pocket when you must take time away from work to attend appointments, thus cutting into your earnings?
The time commitment to address symptoms and seek answers/solutions along with the financial strain reflect the burden of the disease, causing stress, depression, anxiety, and, at times, resentment toward others who don't have to experience the same situations. Mobility issues can make socializing difficult. Even when mobility challenges are not present, often after running to and from the appointments and treatments, the energy to socialize with others simply isn't there, leading to feelings of isolation from friends and family members. The fact that you have a rare disease also may cause feelings of isolation because you now have the diagnosis that labels you as different from most other people in the world.
Additionally, you must constantly readjust your own perceptions of your capabilities with reality. Wishing to be self-sufficient and being self-sufficient are two different things as one of my teenage patients mentioned to her mother. The desire to lead a normal life, to go to college, and to live independently is natural when your friends are moving on and achieving these milestones without you. Sometimes reality is harsh and difficult to accept.
The struggle to circumvent and accommodate physical limitations takes a huge emotional toll. Asking someone else for help is one of the hardest things to do because we, as human beings, value our own independence and self-reliance. Asking for help as a caregiver can be equally as hard, but the need to create some time and space to recharge your own batteries is critically important for your own mental health and well-being. You cannot pour from an empty cup.
While the connection between mental health and rare disease, chronic illness, and disability is recognized, what is perplexing to me is that only 1 in 7 patients with rare diseases report receiving sufficient psychological support. It is shameful that people who are already dealing with so much—navigating life with a rare disease, disability, or chronic illness—are also afraid to seek the psychological support that they need because of the stigma associated with it or fear of what might be said to them because of what has already been said to them. Words are powerful and as such must be spoken with care.
Professional psychological support must be readily available to anyone who needs it and must be provided in a manner that is non-judgmental so that patients feel comfortable discussing their concerns, symptoms, and emotions in a safe space, instead of feeling judged or immediately being told that their illness originates in their minds.
One of the most frequent expressions of gratitude from my patients which I encountered as a physical therapist was "thank you for listening to me and validating my experiences." Ultimately, people are seeking validation. Sometimes, being believed makes the biggest difference in a person's health journey.
Perhaps when people are misdiagnosed with psychosomatic disorders, it isn't "all in their heads."
Perhaps the medical system needs to re-evaluate what is being done to actively support the mental health of those with rare diseases, chronic illnesses, and disabilities.
Perhaps it is time we stopped separating the mind from the body and started viewing and treating a person holistically with just as much respect for emotions and mental health as the body.
References and Resources
Mental Health Awareness Month. National Alliance on Mental Illness. Accessed May 13, 2022.
Nunn R. “It’s not all in my head!” - The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases. 2017;12(1):29. doi:10.1186/s13023-017-0591-7
Rare Diseases and Poor Mental Health Are Not Cause and Effect. Rare Disease Advisor. Published December 8, 2021. Accessed May 13, 2022.
Rare Disease Impact Report: Insights from patients and the medical community. Global Genes. Accessed May 13, 2022.
Help for Mental Illnesses. National Institutes of Health. Accessed May 13, 2022.
Caregiver Webinar on grief sponsored by the Rare Disease Foundation for Mental Health Awareness Month. The link for registration is: https://bit.ly/rdfcares1.
Maria Arini Lopez, PT, DPT
Maria Arini Lopez, PT, DPT, CSCS, CIMT, CMTPT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases, especially Ehlers Danlos Syndrome.