The Hidden Costs of a Rare Disease

The Hidden Costs of a Rare Disease

“There are even more costs associated with having a rare disease that most people are unaware of, and recent research has examined where these hidden costs come from.”

There are typical costs that come with having any disease such as prescription drugs and medical equipment, but when one has a rare disease, these costs and much more add up rapidly. Depending on health coverage these costs can vary in their severity, but the general trend is clear; costs are much higher for patients with rare diseases. Not only are prescription drugs often more expensive because they are orphan drugs but there can also be specialized medical equipment required, needed full-time care for the patient, and visits to multiple specialists. These are just the obvious costs; there are even more costs associated with having a rare disease that most people are unaware of, and recent research has examined where these hidden costs come from.1 Although different governments have different policies on health coverage for individuals with rare diseases, it is evident that they do not take into account these ‘hidden’ costs which affect the families of patients with rare diseases.


“A child with a rare disease will require more hours of care from a parent, which often results in one parent being forced to give up work in order to care for their child...”

Having a rare disease not only adds an emotional burden to the patient's family, it also adds a significant financial burden, which is expressed in many ways that may not be obvious. Firstly, the time required for the care of an individual with a rare disease is financially draining. A child with a rare disease will require more hours of care from a parent, which often results in one parent being forced to give up work in order to care for their child, write emails, and make calls to plan and attend appointments.1 If the parent does not have to quit their job outright it is likely they would only be able to work on a part-time schedule.1 This in itself can take away a large source of income for the family causing financial issues. Furthermore, if care for the patient is uncoordinated, as it quite often is, it can result in time being spent going to multiple appointments which could’ve been avoided if care was better coordinated. Care coordination is the coordination of patient care between two or more professionals involved in their treatment facilitating the appropriate health care services.2

Another source of hidden costs for patients with rare diseases comes from the costs associated with attending many appointments, most of which tend to be at distant locations due to the rarity of specialists for rare diseases. The costs of these appointments add up to create a very costly trip to the specialists: gas, hospital parking, public transportation, accommodation, food, and childcare.3

Even at home, the costs of a rare disease can be exhibited in the need for housing adjustments to accommodate the patient. Often home renovations such as the implementation of ramps, elevators, accessible bathrooms, and appliances are required for patients with rare diseases.4 Although there is financial aid available for these adjustments, they can be difficult to access and often do not cover the entirety of the project. Altogether these hidden costs accumulate, causing a significant financial burden on rare disease patients and their families. One potential solution to some of these problems would come from improved coordination of care for rare disease patients.5

When there is a lack of communication between care providers for individuals with rare diseases, it can result in an increase in unnecessary appointments.1 As previously noted these additional appointments can be costly and time-consuming for the patient and should be avoided. Often the cause of these unnecessary appointments is limited consultation time with doctors and patients being left to coordinate their own care.5 When patients do not have enough consultation time, they might not understand the purpose of the appointments they need to make which can result in an overlap in the purpose of different appointments. If patients better understand the purpose of each visit to a doctor or specialist they will have a better understanding of which ones are truly necessary to attend and which can be combined into a single visit.


“Specialist centers can provide care for rare disease patients by providing multidisciplinary teams of health and social care providers, along with a specialist doctor for the disease.”

The good news is there are solutions available to reduce uncoordinated care of rare disease patients. One system which has been implemented in the UK is the use of specialist centers. Specialist centers can provide care for rare disease patients by providing multidisciplinary teams of health and social care providers, along with a specialist doctor for the disease.6 This method of caring for a rare disease patient is effective and cost-efficient by reducing the number of trips to clinics required for the patient. Specialist centres also make treating the patient easier by having all the information present and accessible rather than relying on the patient to relay information from clinic to clinic.6 By increasing the availability of these clinics and making rare disease patients more aware of them, there will be increased care coordination.

Another solution to the problem with uncoordinated care is the implementation of care coordinators to help with the scheduling of appointments and transfer of patient information between clinics.1 One UK survey revealed that 81% of respondents do not have a care coordinator, although 48% indicated their ideal care coordinator would be a specialist doctor or nurse.6 Increasing awareness of the availability of care coordinators would be helpful to reduce the costs associated with planning and attending numerous appointments.

Although specialist centres and care coordinators seem like the perfect solution to this problem, it is not that simple. Due to the nature of rare diseases specialist centres can be expensive to maintain with high costs for specialists and a low number of patients attending. Furthermore, care coordinators are an additional expense that patients might not want to pay for. Depending on government compensation for these programs they can be a reallocation of funds rather than a reduction, although ultimately they will both reduce time spent managing a disease.


“In the future, it is clear that by increasing the availability of specialist centers and care coordinators patients with rare diseases will be able to cut down on some of the ‘hidden’ costs associated with having a rare disease.”

In the future, it is clear that by increasing the availability of specialist centers and care coordinators patients with rare diseases will be able to cut down on some of the ‘hidden' costs associated with having a rare disease. Reduced time off work for organizing and traveling will be beneficial as well as reduced costs for visiting one clinic as opposed to many will help the financial situation for families of patients with rare diseases.


Works Cited:

1. Simpson A. The Hidden Costs Of Rare Diseases: A Feasibility Study. London: Genetic Alliance UK; 2016.

2. Wagner E, Schaefer J, Horner K, Cutsogeorge D, Perrault R. Care Coordination: Improving Chronic Illness Care. Improvingchroniccareorg. 2011. Available at: http://www.improvingchroniccare.org/index.php?p=Care_Coordination&s=326.

3. Simpson A. What is the cost of managing a rare condition? Rarediseaseorguk. 2016. Available at: http://www.raredisease.org.uk/news-events/news/what-is-the-cost-of-managing-a-rare-condition/.

4. Giunti P, Greenfield J, Stevenson A et al. Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany. Orphanet Journal of Rare Diseases. 2013;8(1):38. doi:10.1186/1750-1172-8-38.

5. Solberg L. Care coordination: what is it, what are its effects and can it be sustained? Family Practice. 2011;28(5):469-470. doi:10.1093/fampra/cmr071.

6. Muir E. The Rare Reality – An Insight Into The Patient And Family Experience Of Rare Disease. London: Genetic Alliance UK; 2016:22-26.


Cite This Article:

Smith E., Zheng K., Chan G., Ho J. The Hidden Costs of a Rare Disease. Illustrated by C. Suart. Rare Disease Review. September 2017. DOI:10.13140/RG.2.2.32188.13442.

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