According to a story from the National Gaucher Foundation, the stress and difficulties of living with a rare or chronic disease can take a major toll on a patient’s mental and emotional state. Many patients with rare diseases are facing mental health problems and rare disease patients are at a higher risk of having them. One such disease that can cause mental health issues is Gaucher disease.
About Gaucher Disease
Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.
Gaucher Disease and Mental Health
Unfortuately, there is only a limited body of research that focuses on mental health and chronic illness. Dr. Wayne Rosenfield is a Gaucher disease patient and also a professional psychologist. These characteristics allow him a unique perspective. He says that even though there is some sense of belonging by being part of a larger patient community, being a Gaucher disease patient can still feel isolating.
Some risk factors for developing mental health problems include traumatic life experiences, a family history of mental illness, and certain biological factors, such as genetic mutations. Only 17 percent of the general population reports having mental illness, but 67 percent of rare disease patients report symptoms of depression. These grim numbers highlight the overwhelming emotional burden of having a rare disease. A variety of factors, such as delayed diagnosis or misdiagnosis and lack of awareness about rare diseases (even among medical professionals), can easily magnify feelings of stress and anxiety.
Dr. Rosenfield says that is critical for Gaucher disease patients to have an outlet that allows them to feel comfortable discussing their mental health:
“Talking with a safe, supportive care group was monumentally important in my own battle to maintain my mental health.” – Dr. Wayne Rosenfield
Check out the source article for some valuable resources related to mental health and rare disease.
