The Impact of Rare Conditions on Patients and Families
Seconds, it takes only seconds. Faster than a blink life as you know it can change. Myocardial Infarctions, Pulmonary Embolisms and car accidents all serve as striking reminders that our next breath is never promised. The devils we know are difficult enough, though it comes with the alleviation of clarification. What of the ones we don’t? When the quest for a diagnosis protracts for days, months or even years and suffering does not some with the assuaging of a diagnosis. For those with obscure medical conditions this is an unfortunate reality. The frustration behind endless fruitless appointments, endless tests, endless questions met with questions reverberates through physical and psychological health as well as family dynamics. Patience and bank accounts dwindle as time moves.
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It is not a challenge to understand. Your body and mind fail you, the trauma of repeated examinations and diagnostics along with the encumbrance of cost. Pediatric and adult discharges with Rare Diseases (RDs) show substantially higher health-care utilization compared to discharges with Common Conditions (CCs) diagnoses, accounting for nearly half of the US national bill. According to a 2016 study from the Health Cost and Utilization project, of 35.6 million national hospital weighted discharges in the HCUP Nationwide Inpatient Sample 32% corresponded to RD-associated ICD-10 codes (codes used for insurance claims). The total charges were $768 billion for RDs compared to $880 billion for common conditions (CCs). These charges were a result of higher charges per discharge and longer length of stay (LOS) for RD patients compared to those with CCs. (Navarrete-Opazo et al., 2021). Sight, or even thought of the bills alone provides a sticker shock. Some patients and families are tasked with the impossible choice, to deny treatment and allow the disease to take its course or move forward and risk the family accruing the cost.
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Payment can be challenging, as obtaining and maintaining gainful employment may not be possible. Studies indicate that many people with RDs experience barriers related to work, closely associated to the severity and symptoms of the disease (Velvin et al., 2023). Family members often assume the role of caretaker, often resulting in many obstacles. According to some literature, the monetary impact of caring for a person with a rare disease can be up to 31% of the total cost of illness. (Bonner et al., 2017). The estimated total indirect and non-medical cost of RD is $548 billion in 2019, with $343 billion to persons with RD and another $205 billion to unpaid caregivers. Significant productivity losses associated with absenteeism and presenteeism are experienced by employers. These productivity losses include $135 billion from adults with RD whose disease progression and diagnoses require time away from the workplace and $152 billion from their caregivers. Additionally, government supplemental income programs, which are based on disability eligibility, provide disability support ($115 billion) to persons with RD whose ability to participate in labor market or volunteer activities is significantly affected by RD (EveryLife Foundation for Rare Diseases et al., n.d.).
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In addition, the psychological effect on patients and caregivers can be profound. Narrative studies, including quantitative research conducted, concluded whilst there are occasional positive outcomes of having a family member with a rare disease, overall family members have been found to experience increased psychological distress, lower quality of life, higher caregiver burden and changes to their social support compared to those with common diseases.” (Atkins & Padgett, 2024). Research published in 2022 by Rare Disease UK reports that more than 90% of study respondents felt anxious, stressed or depressed due to their rare condition, and that 36% of patients and 19% of carers had experienced suicidal thoughts (Spencer-Tansley et al., 2022). Sadly, these maladies often go under reported and undertreated.
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It is abundantly clear further research into the treatment rare diseases. Rare, to some, may be implicative of numerical value, though tiny pebbles ripple throughout a pond. One sharp point punctures a tire, acting as a pressure point exposing the fragility of the larger body. The discovery of these vulnerabilities provides an opportunity to strengthen our overall system and ameliorate the suffering for those with rare diseases, those with more common ones and the families who care for them.
Sources:
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Atkins, J. C., & Padgett, C. R. (2024b). Living with a Rare Disease: Psychosocial Impacts for Parents and Family Members – a Systematic Review. Journal of Child and Family Studies. https://doi.org/10.1007/s10826-024-02790-6
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Navarrete-Opazo, A. A., Singh, M., Tisdale, A., Cutillo, C. M., & Garrison, S. R. (2021). Can you hear us now? The impact of health-care utilization by rare disease patients in the United States. Genetics in Medicine, 23(11), 2194–2201.
https://doi.org/10.1038/s41436-021-01241-7
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Velvin, G., Dammann, B., Haagensen, T., Johansen, H., Strømme, H., Geirdal, A. Ø., & Bathen, T. (2023). Work participation in adults with rare genetic diseases - a scoping review. BMC Public Health, 23(1). https://doi.org/10.1186/s12889-023-15654-3
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Spencer-Tansley, R., Meade, N., Ali, F., Simpson, A., & Hunter, A. (2022). Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Services Research, 22(1). https://doi.org/10.1186/s12913-022-08060-9
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Bonner, N., Hall, R., Tritton, T., Grimes, R., Trennery, C., Spencer, H., & Bennett, B. (2017). Rare diseases, Are caregivers just as affected as patients? Value in Health, 20(9), A562. https://doi.org/10.1016/j.jval.2017.08.928
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EveryLife Foundation for Rare Diseases, Lewin Group, Yang, G., Cintina, I., Zhou, M., Emont, D., Lin, J., Kallman, S., Kennedy, A., Jenkins, J., Sullivan, J., National Center for Advancing Translational Sciences, National Institutes of Health, Undiagnosed Diseases Network, Little Hercules Foundation, Rare Disease Legislative Advocates, SmithSolve, Nguyen, D.-T., Zhu, Q., . . . Silvestri, S. (n.d.). National Economic Burden of Rare Disease Study.