NGF Community Blog

Tackling Mental Health Challenges Within the Gaucher Disease Community

Unlike other health problems, which may only affect one specific part of the body, mental health issues have the potential to impact a person’s entire life. From social well-being to emotional response, your mental health directly impacts your mood, behavior, and patterns of thinking.

Mental Health and Chronic Diseases

According to the World Health Organization, mental health conditions affect as many as one out of every four people worldwide. Unfortunately, people living with rare or chronic diseases, such as Gaucher disease, are much more likely to experience emotional or psychological challenges. However, it’s difficult to shed light on effective interventions for people who struggle with mental health and chronic diseases.

“We only have limited research involving people living with rare diseases and their mental health status,” says Dr. Wayne Rosenfield, Ph.D. “However, we can expect patients to have the same kinds of reactions to stress or trauma as would people who don’t have Gaucher disease.”

Trends in Mental Health Among People with Gaucher Disease

As a professional psychologist and a person living with Gaucher disease, Dr. Rosenfield offers unique insights into the mental health challenges faced by the Gaucher disease community. “We’re conscripted into this group of people—we certainly didn’t choose to join it. We’re brought into the Gaucher disease community with no training and probably no knowledge about the disease. There’s no way to resign. In my personal experience, you really feel isolated, even though you may have a tremendous support system behind you.”

Doctors already know some risk factors for developing mental health challenges, including:

  • A family history of mental health issues
  • Biological factors, such as genetic mutations
  • Environmental or life experiences, such as abuse

But rare diseases like Gaucher disease are much more ambiguous compared to other, more common diseases. This uncertainty dramatically adds to the stress of receiving a rare disease diagnosis. 

In general populations, only about 17% of people experience mental health conditions. In contrast, 69% of people living with rare diseases report experiencing depression. Additionally, a full 82% of rare disease patients suffer from anxiety and stress-related problems. Several factors increase a person’s likelihood for poor mental health throughout the diagnostic and treatment journey.

The Impact of Misdiagnosis

It’s important to understand the potentially devastating impacts of misdiagnosis upon people living with rare diseases. It may take years, or even decades, to receive an accurate diagnosis of Gaucher disease. During this time, individuals often meet with multiple medical providers and undergo a battery of diagnostic tests, many of which provide little or no information about their condition.

Unfortunately, misdiagnosis is common among people living with Gaucher disease. As a result, patients may receive unnecessary medical treatments while incurring significant medical expenses. It’s common for anxiety and stress to increase, which, in turn, increases the likelihood of emotional exhaustion, poor mood, and even suicidal ideations.

Lack of Knowledge Among Medical Providers

Coupled with misdiagnosis is healthcare providers’ lack of familiarity with Gaucher disease. “In many cases, doctors don’t know what they’re dealing with. They won’t link symptoms together, or they may act like the problems are all in a patient’s head. This is extremely anxiety provoking for someone with a rare disease like Gaucher disease,” says Dr. Rosenfield.

A diagnosis typically is the first step toward understanding how a disease occurred, how it will progress, and what treatments are available to help. But a diagnosis of Gaucher disease may not offer the same amount of information, especially if your care team is unfamiliar with the condition.  And even though doctors know certain treatments, like enzyme replacement therapy (ERT), work to manage certain aspects of Gaucher disease, there’s no way to estimate how effectively this intervention will control someone’s symptoms.

Gaucher disease follows an unpredictable clinical course which varies greatly from patient to patient. That’s why it’s so important to find a Gaucher disease specialist with experience managing this complex condition.

Social Media’s Influence on Mental Health

Social media allows for a free and open exchange of tremendous amounts of information among large groups of people. But even though this technology enhances our lives, it can also be a source of stress.

Dr. Rosenfield notes, When things go wrong with social media, they go wrong at the speed of light. Misinformation, anxiety, and hysteria are all communicated at the same speed as support. It’s essential to be able to separate fact from fiction when it comes to rare diseases.”

Meeting the Mental Health Needs of Those with Rare Diseases

Often, because of stigmatization, many people suffering from mental health challenges delay treatment or simply remain untreated. “The best way to help people living with Gaucher disease feel comfortable asking for help? Shine a bright light on the problem. Encourage people to come out and share their experiences with depression. Allow people with Gaucher disease to discuss their anxiety,” says Dr. Rosenfield.

“The more we talk about it, the more we can relate to others. People being brave enough to admit they’re struggling is crucial for overcoming this stigma. Starting the conversation is the best thing we can do.”

Supporting Individuals with Gaucher Disease

Many people who live with rare or chronic diseases report feeling emotionally, mentally, and socially isolated. “Talking with a safe, supportive care group was monumentally important in my own battle to maintain my mental health,” says Dr. Rosenfield. “Peer groups offer social connection and mutual support for people who deal with many of the same problems another person with Gaucher disease may face. After all, nobody quite understands what you’re going through like someone who’s walked the same path.”

The Gaucher disease community offers a strong, patient-built support system. “We are powerful advocates for ourselves,” Dr. Rosenfield says. Our community is more likely to know how to reach out for help, but some may still hesitate to do so. But when the Gaucher disease community gets together, it’s like we’re all a family. We all understand the struggle and are there to help and support others. And beyond in-person meetups, which I thought were most helpful, Gaucher disease support groups are essential for helping each other remain positive in the face of uncertainty.”

How Providers Can Help

In addition to managing the medical aspects of rare diseases, healthcare providers have a responsibility to talk about mental health and chronic disease. Only about half of people living with rare diseases report their doctors ever asking them about their mental health. But this kind of discussion needs to be a part of every patient encounter. Instead of overlooking a person’s mental health symptoms, the treatment team must take an active role in evaluating and recommending treatments for specific mental health challenges.

But doctors have to remember they are human too. “We ask doctors to do so much, and sometimes forget they are people too. We ask them to be good scientists. But they also experience their own emotional reactions when dealing with us. Ambiguity is stressful, and the difficulty in arriving at a diagnosis is itself frustrating. We ask a lot from our providers,” says Dr. Rosenfield.

It’s important for healthcare providers to be mindful of their own emotions, which may help them better connect with their patients. It may be uncomfortable or awkward to discuss mental health challenges with patients. But when providers open themselves up to hearing about a patient’s distress, they strengthen the provider-patient bond and can truly improve a person’s quality of life.

“The one thing the treatment team absolutely must do? Don’t forget who I am as a person with Gaucher disease,” says Dr. Rosenfield. “I’m not just the Gaucher disease case in room seven—I’m an individual with my own feelings, thoughts, and dreams for the future. The best doctors I’ve had were those who were ’real’ people first. They were people who empathized with me, even though they didn’t know exactly what I was going through. They didn’t forget to be a human first, and that kind of connection helped me tremendously.”

Mental Health Month: Resources for the Gaucher Disease Community

May is Mental Health Month. Raising awareness of this issue among people living with rare or chronic diseases—including Gaucher disease—helps pinpoint solutions to help those who are struggling. If you or a loved one experiences mental health symptoms, the first step to feeling better is to have an open, honest conversation with your doctor. And if you can’t see your doctor quickly, there are other resources available. A simple phone call can start the process of getting help now.

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