The Comorbidity of Mental Illness in Rare Disease
When Neil was 23 years old he still hadn’t reached puberty.1 It was only after a brief encounter with an endocrinologist in a London hospital that he was finally diagnosed with Kallmann syndrome (KS), a congenital hormonal condition which results in an individual never fully reaching puberty. In 2016, Rare Disease UK published a collection of rare disease case studies providing personal insight on stories like Neil’s. A running theme in the realities of rare disease individuals found throughout the report is the expressed burden that a rare disease can have on one’s mental health. Neil further commented on the taxing emotional aspect of KS, “KS patients can get very depressed if they’re not diagnosed or can’t get on with treatment. There is a huge psychological impact of not growing up, and not experiencing adolescence and puberty at the same time as your peers.”
It is not uncommon to see the progressive development of a mental health disorder with a rare disease diagnosis. Mental health is the third major theme recognized by Shire from their 2013 Rare Disease Impact Report. Shire reported that quality of life is drastically lower for patients with a rare disease compared to patients who are otherwise healthy, and even lower when treatment options are non-existent. A lack of information about one’s disease and other uncertainties regarding its management and prognosis can contribute largely to the onset of various mental disorders, such as depression and anxiety. Over 70% of surveyed individuals reported that their rare disease caused depression and anxiety compared to the combined prevalence rate of 10% in the general population.2 Other psychosocial measures such as experiences with social isolation, reduced interaction with friends and family and general worry on future outlook were also reported at higher occurrence rates. Despite the overwhelming proportion of comorbid cases, only 1 in 7 individuals on average feel that they receive sufficient psychological support from society and external resources.1,2
“Despite the overwhelming proportion of comorbid cases, only 1 in 7 individuals on average feel that they receive sufficient psychological support from society and external resources.”
Measuring the social differences in individuals with rare diseases isn’t as widely studied compared to research within genetics and drug therapy. The few studies that do focus on the psychosocial aspects tend to result in similar conclusions regarding the stigmatizing social impact a rare disease has on a person. A focus study by Joachim and Acorn conducted interviews on those with scleroderma, a connective tissue disease that causes fibrotic changes in the organs of the body.3 Some severe cases of scleroderma involve the skin, making symptoms visible. However, many mild to moderate cases make the disease visibly asymptomatic. Two groups of individuals with scleroderma were individually interviewed, one group with visible symptoms of the disease and the other without any visible symptoms. Data revealed that those with visible symptoms were more conscious of being different from others without scleroderma. They often reacted by immediately disclosing information about their disease and being hyper-aware of the reaction of others.3 Comparatively, those without visible symptoms were better able to manage their disease information in an interview and were seldom subjected to being perceived as different.
“Both studies highlight how the stigma surrounding uncommon medical diseases can enhance the social and environmental barriers that affected populaces must often come across.
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Similarly, a focus group study published by Bogart, Tickle-Degen and Joffe explored the social experiences of 12 individuals with Moebius Syndrome, a rare congenital condition characterized by facial paralysis.4 Throughout the study, participants utilized compensatory means of expression such as varying vocal tone and relying on external gestures for communication. Stigmatization and isolation can stem from an individual possessing stark facial differences and being incapable of expressing themselves with their face.1,4. Both studies highlight how the stigma surrounding uncommon medical diseases can enhance the social and environmental barriers that affected populaces must often come across.
Investigating ways to enhance one’s quality of life is an important metric toward subsequently improving how a patient can effectively manage their medical symptoms. A 2017 cross-sectional survey by Bogart and Irvin published in Orphanet Journal of Rare Diseases examined the health-related quality of life (HRQL) in a large sample of rare disease individuals compared to those with common chronic diseases across various measures. The study found that people with rare diseases scored significantly worse in metrics associated with HRQL compared to those with common chronic diseases. There are unique challenges related to enhancing rare disease HRQL that are not experienced by more widely known chronic illnesses, such as having insufficient available medical information and poor access to support resources.5 Outcomes of this study strongly advocate for the need to fund psychosocial support for individuals with rare diseases, and focusing on sourcing initiatives that consider HRQL to be of utmost importance.
Additionally, a major obstacle to a rare disease patient receiving appropriate treatment is the delayed establishment of a diagnosis.6 People with rare diseases can possess unusual and inconsistent symptoms where physicians find it difficult to trace or recognize the pathology. This can unfortunately result in patients being listed off as hypochondriacs, where future medical professionals may not take their cases seriously again. A conclusion that completely dismisses a patient’s reported symptoms can lead to feelings of hopelessness, invalidation, and a lack of confidence. A prolonged diagnosis can drive one’s deteriorating mental health if an individual continues to remain in the dark about their rare disease status.
“Rare disease patients are faced with increased susceptibility to mental health disorders. However, the toll that a rare disease can take on a patient’s mental health can be easily overlooked.”
Rare disease patients are faced with increased susceptibility to mental health disorders. However, the toll that a rare disease can take on a patient’s mental health can be easily overlooked. Many aspects of an individual’s life are affected spanning from social, employment and educational opportunities. Increased awareness and understanding these issues could be used to help develop proposed care models in the future and establish resources that are highly centralized around addressing patient quality of life.
Works Cited:
1. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet, 2010;376:1417-1427. https://doi.org/10.1016/S0140-6736(10)60961-0
1. Muir E. Raredisease.org.uk. https://www.raredisease.org.uk/media/1588/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf. Published 2016. Accessed November 11, 2018.
2. Rare Disease Impact Report - Global Genes. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf. Published December 2013. Accessed November 11, 2018.
3. Joachim G, Acorn S. Life with a rare chronic disease: the scleroderma experience. Journal of Advanced Nursing. 2003;42(6):598-606. doi:10.1046/j.1365-2648.2003.02663.x.
4. Bogart KR, Tickle-Degnen L, Joffe MS. Social interaction experiences of adults with Moebius Syndrome: A focus group. Journal of Health Psychology. 2012;17(8):1212-1222. doi:10.1177/1359105311432491.
5. Bogart KR, Irvin VL. Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases. 2017;12(1). doi:10.1186/s13023-017-0730-1.
6. Nunn R. “It’s not all in my head!” - The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases. 2017;12(1). doi:10.1186/s13023-017-0591-7.
Cite This Article:
Khalid S., Chan G., Palczewski K., Zhang B., Lewis K., Ho J. The Comorbidity of Mental Illness in Rare Disease . Illustrated by C. Qian. Rare Disease Review. December 2019.
DOI:10.13140/RG.2.2.27294.69449.
