Managing Your Mental Health: Rare Disease Affects Beyond the Body

May 18, 2022

May is Mental Health Awareness Month, and those in the rare community experience a wide array of mental health issues, ranging from anxiety and stress to depression. Patients and caregivers, alike, as well as healthcare providers, experience mental health issues. Patients and caregivers experience these symptoms during various stages of the process, including the diagnosis odyssey, treatment and managing symptoms, and even when symptoms subside. Then there are those who experience mental health issues not connected to rare disease, but in addition to physical health conditions.

Last month, Global Genes asked its social media followers to tell their stories. Sarah Forsman was one of the people who shared her story.  Sarah was diagnosed with alpha mannosidosis and craniosynostosis as a baby, had skull reconstructive surgery when she was a year and half, and a bone marrow transplant at four and a half years to halt the progress of the alpha mannosidosis. She still undergoes neurofeedback treatment to manage alpha mannosidosis symptoms as well. 

Sarah shared her struggles with depression in an Instagram post, and credits her faith in a key part of managing her depression. She believes that the depression and suicidal thoughts she felt from 2017 to 2019 were due to stress and other aspects of her life not connected to alpha mannosidosis. She shared, “My story is still being written to this day and I’m excited for what my future holds.”

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A post shared by Sarah Forsman (@sarahforsman_)


Mental health challenges need to be addressed in a different manner for caregivers or those diagnosed with a rare disease. Darcy Cunningham Esiaison, LICSW and Virginia O’Hayer, Ph.D. of Esiason-O’Hayer Institute for Behavioral Medicine shared how and why mental health and therapy will differ in the rare community from the general population at the 2021 Patient Advocacy Summit.

“The psychological burden of living with a rare disease, or loving someone with a rare disease, is not the standard psychological burden that a therapist is used to seeing,” shared Darcy Cunningham, Esiaison, LICSW, Executive Director of Esiason-O’Hayer Institute for Behavioral Medicine. “The depressive symptoms aren’t your textbook depression; the feelings of hopeless are not the result of a chemical imbalance in your brain. The worry you might experience on a daily basis might be what’s keeping you alive — it’s not an anxiety disorder. And of course, you don’t just get grief like everyone else – you get ambiguous grief.”

Ambiguous grief is commonly experienced in the rare community because there is so much loss as the disease progresses. Sometimes, there is no diagnosis, there may not be a treatment, and there may be no prognosis because it is such a rare disease. Ambiguous grief may encompass feelings like sadness, yearning, anger, and guilt. The term is still relatively new, but it is helpful to put a name to the feeling, said Jessica Fein, rare mom and board member of Mito Action, at the Patient Advocacy Summit last fall.

“I am not going to grieve a child who is still with me, yet we were suffering together as a family, and of course, most profoundly her, loss after loss after loss – being able to move, to speak, to communicate,” Jessica shared. “We have experienced so much loss while we still have this person we love so deeply here with us. That’s a really complicated feeling, and I was really gratified to know that there was actually a term for it, and that naming it gives me permission to feel it.”

Anxiety is “an emotion characterized by apprehension and somatic symptoms of tension in which an individual anticipates impending danger, catastrophe, or misfortune” according to APA (American Psychological Association). A rare diagnosis may lead to fears, worries and racing thoughts, and also physical symptoms like a racing heartbeat, sweating, or panic attacks. It is natural to have some fears after a diagnosis, or starting a new treatment because of the unknown. The anxiety begins when your thoughts are consumed with the questions that you don’t have control or answers to. It helps to talk to others about what you are experiencing to eliminate questions that they may have, and also to make sure you surround yourself with people that will help you overcome the anxiety. Therapies such as meditation, breathing exercises, and cognitive behavioral therapy are common methods to manage anxiety.

Depression can range from occasional low moods to a clinical depression for long periods of time. Feelings of sadness, loneliness, apathy, isolation, anger, and irritability are common in depression, as are physical changes like loss of appetite or increased appetite, lack of interest in normally enjoyable activities, and even thoughts of suicide. In the rare community, loneliness, despair, and isolation may be especially heightened and intensify the depression. Therapy, and if possible, medication, may help to alleviate the depression.

Stress affects everyone, and can cause a fight or flight reaction in the mind and body, and can make symptoms experienced in any disease worse. In those diagnosed with rare disease, stress exacerbating symptoms can be even more dangerous given the difficulties in treatment or managing symptoms. Keys to managing stress include not keeping things to yourself, seeking outlets for expressing emotions, and self-care.

Survivor’s guilt is often understood as something a car crash victim or a veteran may experience after coming back from a war. How could it affect someone who is diagnosed with a rare disease? Even when treatment is successful and the symptoms of a rare disease subside, those diagnosed with a rare disease may experience survivor’s guilt as they are thriving, and there are those who are still experiencing symptoms of their condition, or did not survive. Caregivers may experience survivor’s guilt as well, as they form bonds with other caregivers, and see the challenges that they continue to experience.

What Should You Do?

The one thing that is the same in the rare community as it is within the rare community is how to tackle mental health problems. The key is identifying that mental health conditions exist, and then finding ways to remedy those feelings, whether that it may be through therapy, support groups, medications, and talking to fellow patients and caregivers.

Managing mental health is an important part of the treatment process for someone diagnosed with a rare disease. Treatments have been proven to be more effective when the mind is in a good place, and spirits are lifted. The science is unknown, but the results are undeniable.


Mental health and self care resources for rare patients and caregivers

Several sessions at the 2021 Patient Advocacy Summit addresses mental health and self-care. Here are the links to the session videos:

Managing Mental Health, Ambiguous Grief, and the Impacts of Diagnosis and Disease Progression

Building a Coping Toolbox as a Rare Disease Parent or Caregiver

Beyond the “Impossible Thing” – Breaking Barriers and Redefining Strength

Understanding the Emotional Health of Rare Disease Patients

Nikki McIntosh, Founder of Rare Mamas, shared her thoughts on caregiver, self-care, and mental health.

If you are struggling with your mental health, there are a number of resources that can help you with next steps. Your primary care physician can help you with next steps, including deciding if medication, therapy, or a combination of the two will be helpful. 

Use Psychology Today’s Therapy Directory to search for mental health professionals in your area.

If you, or someone you know is in crisis, please seek help immediately. Some resources for 24-hour crisis services: 

The National Suicide Prevention Lifeline’s 24 hour toll-free crisis hotline, 1.800.273.TALK (1.800.273.8255) can put you into contact with your local crisis center that can tell you where to seek immediate help in your area.

Text “MHA” to 741-741 to speak with a trained crisis counselor at Crisis Text Line.

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