Understanding Rare Conditions: The Compounding Impact, Interwoven Nature of Mental Health Concerns

Published April 24th, 2023 | 7 Minute Read

As the leader in social health, Health Union’s growing portfolio of online health communities addressing conditions considered rare diseases – defined by the United States as a condition that affects less than 200,000 people nationally – helps people who are navigating rare diseases by providing support, connection, and information to help them navigate their health journeys.

In addition to providing a more relevant, supportive experience for people living with these conditions, Health Union’s rare condition communities – RareDisease.net and eight condition-specific ones, including ThyroidEyeDisease.net and SpinalMuscularAtrophy.net – provide a unique opportunity for the healthcare industry to truly understand the unique health journeys both within these individual conditions and the rare condition community in general.

This article, the fourth in a series seeking to better understand the rare condition health journey, focuses on mental health, including how living with a rare condition can lead to or amplify mental health issues, how anxiety or depression can often trigger symptoms and the resources people often leverage to work through mental health issues. The first three articles focused on the challenges around finding reliable information, the challenges of finding necessary support and connection and the financial obstacles experienced.


Due to the nature of their conditions, people living with rare diseases experience a wide, endless range of emotions and feelings, including sadness, grief, shame, loneliness, jealousy, anger, shock and emotional numbness. These feelings are not always prioritized the same way physical condition symptoms are, but they can be just as impactful.

Mental health concerns can arise at any point throughout the patient journey, such as before and during diagnosis, as a trigger to physical symptoms, as a result of condition symptoms or in response to various quality of life changes.

Regardless of when and how they are experienced within an individual’s patient journey, findings from Health Union’s surveys of its rare condition communities show mental health concerns, and their impact, are pervasive. For example:

  • 56% of NMOSD In America 2022 respondents said being diagnosed with NMOSD has negatively impacted their mental health
  • 44% of Thyroid Eye Disease In America 2022 respondents said they have experienced a significant negative impact on their mental health

These and other findings from Health Union’s In America surveys, as well as perspectives from patient leaders engaging with the company’s online health communities, can help to underscore the complex nature of mental health concerns within the rare condition patient journey. They can also help healthcare companies better understand the role they can play throughout the patient journey, in terms of providing resources and potential solutions.

Mental Health And the Diagnosis Journey

Mental health can play a complicated role throughout the diagnosis process of a rare condition, for many reasons. Due to less general, and often less clinical, awareness around certain rare conditions, diagnosis can often be a long, strenuous process. This, alone, can lead to or exacerbate mental health concerns, such as anxiety, panic and depression.

One Neuromyelitis-Optica.net patient leader experienced NMOSD symptoms, including pain, for years before she was diagnosed. “I started to become a bit of a recluse, and my social anxiety got worse,” she said. “I would find reasons to not go out, or the pain would be so bad that I didn’t want to.”

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As a result, it is natural for people to receive mental health diagnoses during their rare condition diagnosis journeys, with their primary condition symptoms and mental health symptoms often feeding off of each other. For example, of Myasthenia Gravis In America 2022 respondents who received diagnoses before finding out they had myasthenia gravis, a third were diagnosed with depression and 19% were diagnosed with panic attacks or anxiety.

The greater concern for people with rare conditions comes when healthcare professionals focus only on a mental health diagnosis and either ignore or downplay some of the physical symptoms. That diagnosis might end up being anxiety or depression, and it can make individuals feel like their symptoms are “all in my head.”

Another Neuromyelitis-Optica.net patient leader said she feels HCPs can sometimes dismiss people with her condition “if they haven’t heard of our disease or symptoms before. And they blame it on anxiety.”

For a rare condition like narcolepsy, receiving a mental health diagnosis, such as anxiety or depression, as the sole diagnosis – or being completely misdiagnosed – is common due to overlapping symptoms, such as fatigue, lack of motivation and dreaming while awake

One narcolepsy patient leader said she was diagnosed with depression and anxiety when she was 14 – years before her narcolepsy diagnosis – while she experienced, among other symptoms, excessive sleepiness, disturbed sleep, lack of interest in activities and loss of appetite. “It was clear to my parents and counselor that depression was the villain and anxiety was the sidekick,” she said.

Interwoven Nature of Condition Symptoms & Mental Health Concerns

It would be an understatement to say that a rare condition’s symptoms can impact one’s emotional and mental health. One Sickle-Cell.com patient leader discusses how the “psychological impact” of sickle cell disease “can become incredibly taxing on a person’s mental health.” She specifically calls out how increased pain crisis episodes that are common with sickle cell disease lead to frequent hospitalizations, which can “trigger stress, feelings of anxiety, and/or symptoms of depression.”

For some with rare conditions, the physical impact of the condition can be mentally compounding, and the effect on overall quality of life can lead to a – sometimes rapid – deterioration of mental health.

One Neuromyelitis-Optica.net patient leader mentioned a lengthy list of condition-related factors that have contributed to mental health distress, including “the weeks I spent trying to get doctors to listen to my pain, the nurses telling me others had it worse out there,…quitting my job because of NMO,…not being able to do anything without being in excruciating pain, not being able to meet my friends” and “hair loss from side effects of drugs.”

Some have found that their overall emotional and mental health has changed since being diagnosed or experiencing symptoms. For example, a Myasthenia-Gravis.com patient leader said that she has gotten more emotional, is impatient “where I used to have all the patience in the world” and can “go from having a good day and being lighthearted to getting angry at the situation, and sad, almost to the point of being depressed.”

Conversely, mental health concerns can also worsen, amplify or trigger the symptoms of people’s rare conditions. A Cystic-Fibrosis.com patient leader discussed how an impact to her mental health often leads to her physical conditions worsening. This includes a “raise in blood sugar due to stress; lack of caring about my overall well-being; difficulty keeping up with [respiratory] treatments; struggling to move around and keep active; trouble sleeping; immune system is weakened by stress.”

One Sleep-Disorders.net patient leader with narcolepsy said that, since being diagnosed, she’s found her mental health symptoms often worsen her narcolepsy symptoms (and vice-versa). Specifically, she’s found that her mental health symptoms have caused her excessive daytime sleepiness to increase “exponentially” and enhanced her cataplexy attacks.

Stress particularly can often serve as a trigger for some symptoms. In fact, more than eight in 10 Sleep Disorders In America 2021 respondents living with narcolepsy who have experienced a pain crisis consider stress to be a trigger.

Mental health concerns and primary condition symptoms are often interwoven, not always following a linear, cause-and-effect path. As one patient leader with narcolepsy put it, “Symptoms are exacerbated by emotional responses and emotional responses are exacerbated by symptoms.” 

How Rare Conditions Add Anxiety to Daily Life

Mental health impact means something different for each person. However, findings from Health Union’s In America surveys and observations from its rare disease communities reveals that anxiety and depression can often be pervasive.

Survey findings show it is very common for people with rare conditions to also be diagnosed with anxiety, including:

  • 58% of Hidradenitis Suppurativa In America 2021 respondents
  • 55% of narcolepsy respondents from the Sleep Disorders In America 2021 survey
  • Half of Spinal Muscular Atrophy In America 2022 respondents

As one Sickle-Cell.com patient leader, who is diagnosed with both sickle cell anemia and anxiety, puts it, “The thought of having multiple chronic illnesses is enough to make me anxious, but I’m getting a lot better at taking care of myself physically and mentally.”

Unsurprisingly, a significant portion of people with rare conditions agree their conditions add anxiety to their daily lives. This includes:

  • More than six in 10 NMOSD In America 2022 respondents
  • 54% of Thyroid Eye Disease In America 2022 respondents
  • Half of Sickle Cell Disease In America 2022

In fact, one ThyroidEyeDisease.net patient leader, who has long lived with anxiety, said “being diagnosed with thyroid eye disease upped my daily anxiety to a moment-by-moment feeling.”

One common thread among people with rare diseases is anxiety around new medications for their conditions. Due to the rarity of their conditions, treatment options are often limited. And when the best options are the newest treatments, that can come with a lot of anxiety.

One Cystic-Fibrosis.com patient leader said her anxiety often pops up around the same time she tries a new medication. Due to her health status, “I need to try every option that is given” despite “being unsure of all the side effects.” And despite her newest medication having life-changing effects on her symptoms and overall health, she has still experienced a downside: “an increase in insomnia and anxiety.”

Depression, the ‘Black Hole’ That ‘Consumes Everything’

Living with a rare condition can also lead to, amplify or compound depressive thoughts. As a result, it is common for people with rare conditions to simultaneously be dealing with depression diagnoses. For example:

  • Eight in 10 Sickle Cell Disease In America 2022 respondents said they have experienced depression, with more than half saying they currently experience it
  • Six in 10 narcolepsy respondents from the Sleep Disorders In America 2021 survey said they were also diagnosed with depression
  • 37% of Cystic Fibrosis In America 2022 respondents said they were also diagnosed with depression

One Sleep-Disorders.net patient leader said that when her narcolepsy symptoms aren’t managed well, her depression “turns into a black hole” that “consumes everything from my motivation to my overall physical health and peace of mind.”

For many, depression stems from the feeling that their conditions have sapped away elements of their life that they enjoyed or had come to expect. One Neuromyelitis-Optica.net patient leader said she “literally went into a deep depression and slept 2017 away” after she had to stop working and went on disability. She said she “isolated myself from everyone and used my symptoms of NMOSD as an excuse” because she was “grieving my old life.”

Loneliness can also be a common factor for people with rare conditions, especially those that limit mobility. “When I lack interaction with my friends, I become frustrated and that could lead to being depressed,” one SpinalMuscularAtrophy.net patient leader said. “I would imagine this is true for everyone. Humans need to interact with each other.”

Similarly, people with cystic fibrosis are not allowed to be within six feet of each other due to concerns about cross-infection of dangerous germs and bacteria, limiting their ability to connect in person. “I get depressed because CF isolates me in a way where I get lonely,” one Cystic-Fibrosis.com patient leader said. “I have a wonderful family and husband, but lonely in the sense that I have no one to talk to about any of this.”

Stigma of Therapy & Medication for Mental Health Concerns

When it comes to ways to address mental health concerns, patient leaders with rare conditions are very open about the impact professional therapy has played in their lives and their belief in its overall impact and benefits.

Specifically, people with rare diseases may seek out or find merit in connecting with a therapist with training in chronic disease management because, as one HSDisease.com patient leader said, “I cannot treat my mental health without also discussing how HS impacts it.” Some have found this to be a difficult task, but one Sickle-Cell.com patient leader suggests asking the primary specialist for one’s specific rare condition – in her case, a hematologist – to refer a mental health professional.

In addition to therapy, people with rare conditions have discussed the benefits of taking medication specifically to improve their mental health. Many have struggled with the stigma of taking medications for mental health concerns, but have ultimately come to appreciate the positive impact they’ve had.

For example, one Neuromyelitis-Optica.net patient leader viewed taking antidepressants as a “last resort” because she “always thought they would make you feel worse.” However, she realized she “would do anything to feel a little bit of happiness in life again, and I’m glad I started taking them.”

Likewise, a ThyroidEyeDisease.net patient leader, who has long lived with anxiety and obsessive-compulsive disorder that were amplified by her thyroid eye disease diagnosis, knew that she needed to start taking medications. However, she was scared to admit it, “wondering what people would think” and afraid that “taking medication made me weak.”

Social Health & Other Solutions for Mental Health

In addition to treatment and talk therapy, the toolbox of potential solutions or methods of coping with mental concerns is fairly robust, but any positive impact obviously depends on the individual’s health journey. For example, patient leaders have mentioned meditation, swimming, listening to relaxing music, a healthy diet, journaling and good sleep habits. As a result, there are myriad opportunities for healthcare companies to consider providing resources throughout the rare disease patient journey.

Another major solution for coping with mental health for people with rare conditions has been connecting with others online. As one HSDisease.com patient leader said, “Connecting with HS patient support groups and even building my own community on social media has filled a gap I didn’t know I needed.” One SpinalMuscularAtrophy.net patient leader said online connections have been particularly helpful because her condition makes it difficult to take advantage of many suggested mental health coping mechanisms, like exercising or losing weight.

Online health communities, online patient forums and other forms of social health help people with rare conditions find the information, connection and support they need in a safe environment. In fact, a Cystic-Fibrosis.com patient leader included “becoming part of an online community” among her “wellbeing toolbox essentials.”

Better understanding the health journeys of people living with rare conditions, specifically the impact of mental health, will provide the healthcare industry with what they need to provide necessary resources. Social health creates space for patients to discuss their unique challenges, allowing the healthcare industry to better address their needs.

Partner with Health Union to better understand these insights and to expertly navigate the expansive world of social health – including scalable, socially driven online health communities, like RareDisease.net – and comprehensive, quantitative, condition-specific data.

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