Pompe disease and mental health

Last updated Feb. 5, 2024, by Susie Strachan
Fact-checked by Patricia Silva, PhD

Accepting the diagnosis

Mental health emergency

Living with Pompe disease can have a significant impact on your mental well-being. The disease, which is caused by mutations in the GAA gene, can make you more susceptible to developing emotional issues such as depression and anxiety.

After finding out you have a chronic illness such as Pompe disease, you may need time to adjust to your diagnosis. Start by learning about how it can change your life and affect your mental health.

Also, remind yourself that you’re not alone. Resources and support are available to help you navigate the mental health challenges of Pompe disease. Consider reaching out to healthcare providers, mental health professionals, and Pompe disease support groups.

Making lifestyle changes — such as exercising safely, eating a well-balanced diet, and using assistive equipment when needed — can have a positive effect on how you feel and enhance your quality of life.

Accepting the diagnosis

When you or your child are first given a diagnosis of Pompe disease — whether it is classic infantile-onset, non-classic infantile-onset, or late-onset type — it can be overwhelming.

It’s important to give yourself permission to acknowledge feelings of anxiety, anger, depression, and grief. You also want to find healthy ways to express them.

Talking to family, friends, or a mental health professional can help you accept the disease as part of your life. Then you can start to focus on what you can do to manage it.

Heather Shorten is a licensed social worker in Washington, D.C., who works in the field of child welfare. She’s also the founder of the Pompe Alliance, a nonprofit organization that provides information about the condition as well as support to patients, caregivers, and medical professionals.

Her own path to diagnosis wasn’t easy. First, she noticed that her knees were swollen and painful. Her doctor found she was losing muscle, even though she was active and going to the gym.

“I was having lots of pain. I was losing abilities, I couldn’t run, I couldn’t stand on my tiptoes, I couldn’t jump, I couldn’t get off the floor or out of a chair without assistance,” she says. “I would go to bed at night and make my peace with the world because I was sure I was not going to wake up. I thought I was dying. I felt like a person couldn’t live in that much pain and be OK.”

While she initially thought she had muscular dystrophy, it was eventually ruled out and she was referred to a specialist at the National Institutes of Health in 2015.

“It was a simple blood test,” she says. “He pricked my finger and two weeks later he called and said, ‘You have Pompe disease.’”

Some things you can do to help you accept your diagnosis:

Learn about Pompe disease symptoms such as muscle weakness and issues with eating and breathing, as well as pain and fatigue.
Talk with a therapist or counselor.
Let go of unnecessary tasks and obligations.
Talk with friends and family for emotional support.

Depression

It’s not uncommon to have Pompe disease and depression. Trying to cope with a chronic and progressive illness that causes muscle weakness and fatigue can lead to feelings of hopelessness and sadness. Losing your independence can be emotionally challenging and lead to social isolation.

You may find yourself or the person you are caring for experiencing feelings of depression. Depression is characterized by persistent feelings of sadness that last longer than two weeks and a lack of interest or pleasure in daily activities.

Some warning signs of depression are:

inactivity, including not wanting to get out of bed or participate in physical activities
reluctance, such as not wanting to do Pompe disease treatments
irritability, such as having a low tolerance for insignificant issues
sleeplessness, sleeping either too much or too little
inability, such as a lack of concentration to fulfill tasks in daily life, at work or school
substance use, relying on alcohol or smoking
suicidal thoughts, such as feeling that no one will miss you.

Shorten discovered that her depression could also lead to physical symptoms; she suggests paying attention to your body’s response.

“I had body pain,” she says. “My head hurt sometimes when I was feeling depressed.”

Some ways to treat depression include counseling, joining a support group, participating in physical activity, and having regular check-ins with your doctor. Consider speaking with your healthcare provider about whether you may need medication for depression.

Anxiety

When you have Pompe disease and anxiety, you may find yourself experiencing excessive worry, fear, or apprehension about future events. You may notice physical anxiety symptoms such as difficulty breathing, which is also one of the symptoms of Pompe and can be particularly triggering.

Anxiety symptoms can include:

excessive worrying
restlessness
difficulty concentrating
muscle tension and headaches
rapid heartbeat, sweating, fatigue
inability to sleep.

Shorten has had one panic attack in the 15 years since she was diagnosed with anxiety. Her heart beat so hard and fast that she thought she was having a heart attack. She also was nauseated and dizzy.

“I knew that was anxiety,” she says. “That was only because of the time that I’ve spent in therapy and other programs learning how to recognize it.”

Anxiety can be treated with therapy and making lifestyle changes such as practicing mindfulness and meditation. It also helps to have a strong support network of family, friends, and healthcare providers.

Daily coping strategies for easing anxiety and depression

When you’re dealing with mental health challenges, coping strategies can assist you in understanding and managing your emotions and finding a sense of calm.

Shorten has incorporated a number of coping mechanisms designed to calm her anxiety — one of her favorites is listening to music. Some of her other strategies include:

deep breathing
practicing mindfulness exercises, such as reminding herself that she is safe
making a plan and following it
taking anxiety-reducing medication as needed.

Other daily coping strategies might include:

talking with friends and family
gentle exercises, such as yoga or stretching
writing in a journal
participating in interesting hobbies
watching a favorite movie or TV show
petting a companion animal
celebrating successes, big and small.

It’s also important for caregivers to look after their own mental health. Regular breaks can help you feel your best, which in turn allows you to take better care of the person living with Pompe.

Counseling and therapy

Mental health counseling can address the emotional and psychological challenges from living with a chronic condition.

Therapy may take the form of in-person or online counseling, going to a day program or being hospitalized when serious, such as with clinical depression.

Some counseling techniques to consider may include:

Cognitive-behavioral therapy helps to identify and challenge negative thought patterns and behaviors.
Mindfulness-based stress reduction incorporates meditation and stress reduction techniques.
Supportive counseling offers a safe space to express emotions, concerns, and fears related to Pompe.
Problem-solving therapy can help develop the skills to address the challenges of Pompe, such as managing daily activities and making treatment decisions.
Coping skills training offers practical techniques such as stress management, relaxation techniques, and emotional regulation to foster resilience and adaptability.

According to Shorten, a survey by the Pompe Alliance and the Rare Advocacy Movement (RAM) found that 75% of people living with Pompe and their caregivers would like to have better mental healthcare. The same percentage of people said they would have liked to have had a referral to mental healthcare when they were first diagnosed.

“Our conclusions are that access to mental health support is an unmet need for patients and families recently diagnosed,” Shorten says. “But mental health support must understand the needs of Pompe patients and their families.”

Shorten says that the Pompe Alliance is working with the Rare Advocacy Movement to create a continuing education program for mental health professionals who treat patients with rare diseases.

“The goal is, as a Pompe patient, I can walk into a therapist’s office and say ‘I’m here because I was just diagnosed with a rare disease,’ or ‘I’m here because my rare disease is progressing, and now I’m feeling anxious and depressed,’” she explains. “The therapist would be able to help me process this and be aware of the issues that are faced by rare disease patients.”

When Shorten was learning to deal with her Pompe diagnosis, she found herself grieving the loss of her old life and knew she needed therapy.

“Having a therapist in my corner helped me through that grieving process,” she says. “It gave me an outlet to have a safe place to talk about how I was feeling because I was trying to shield my family and my friends from all of that stuff that was going on.”

Shorten points out that going to therapy doesn’t have to be for the rest of your life.

“The goal is to help you learn the tools to be successful and then ideally reduce your visits,” she says.

Shorten’s tips for finding the right mental healthcare include:

asking your primary care provider about medication for anxiety or depression, which often goes hand in hand with therapy
interviewing the therapist to find out if they’re a good fit for your needs
getting a referral to another therapist if you feel you’re not connecting with your current therapist
asking your insurance company for a list of therapists
learning about your insurance coverage for counseling and therapy.

Support groups

Support groups can connect you, either in person or online, with other people living with Pompe or caring for someone with the disease.

Belonging to a group can help you learn more about Pompe, find other resources, and get practical advice. A group also can offer encouragement and emotional support when you need it the most.

Most U.S. and international Pompe disease organizations offer support groups. These include:

For example, the Muscular Dystrophy Association in the U.S. lists a number of mental health and group supports for people living with Pompe disease, including disease-specific support groups offered by MDA Care Centers.

The Pompe Disease News website also offers information and resources on living with Pompe, including community support through its Facebook page.

Social media platforms such as Facebook host a number of Pompe groups, including Pompe Friends and Pompe Strong, both of which are public, along with the Pompe Warrior Foundation. There also are private groups such as Cure Pompe Disease.

Shorten finds that attending conferences for Pompe or other rare diseases gives her a sense of belonging. She also suggests participating in advocacy events such as International Pompe Day, held annually April 15.

Lifestyle changes

Making lifestyle changes can keep your mental health in a good place. Staying in touch with friends and family, exercising, practicing mindfulness and meditation, taking things step by step, and learning what works best for you can help you feel more empowered.

Other lifestyle changes to consider to boost your mental health are:

doing exercises as recommended by a physical or occupational therapist familiar with Pompe, with input from your healthcare team
eating a well-balanced diet
practicing meditation
being socially active
having hobbies
using assistive equipment.

What to do in a mental health emergency

A mental health emergency (or crisis) occurs when someone’s behaviors and thoughts impede their ability to function or if there is a risk of harm to themselves or others. The intensity of distress can be overpowering, and the coping mechanisms that were once effective are no longer working.

Indicators of a mental health crisis can include:

intense changes in mood
inability to function in daily tasks or take care of hygiene
feeling increasingly agitated, angry, or violent
self-medicating or self-harm
withdrawal from others
hallucinations or delusions
paranoia
suicidal thoughts.

There are many crisis intervention services, including walk-in psychiatric urgent care, a hospital emergency department, or by calling 911.

If you are in immediate need of medical help or if someone else is in danger, call 911. When calling 911, it is helpful to state that a mental health crisis is happening, so the appropriate service is connected, such as a crisis intervention team.

If you are having suicidal thoughts, get help. Speak or text with a counselor at a crisis line:

In the U.S., call the 988 Suicide and Crisis Lifeline at 800-273-8255 or call or text 988.
Military veterans can reach out to the Veterans Crisis Line by dialing 988 and pressing 1.
Send a text to the Crisis Text Line at 741741 in the U.S.
In Canada, call or text 988.
Internationally, there are country-specific crisis text lines.
Find international, country-specific crisis hotlines at Suicide Stop or Befrienders Worldwide.

Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.