The High Cost of Rare Disease Medication Nonadherence


7,000 rare diseases affect more than 30 million people in the US, according to the FDA [1]. From Harlequin Ichthyosis to Gorlin syndrome, these overlooked conditions often receive scant coverage in the media or among healthcare professionals.

Nonetheless, the cost of these diseases to those living with them, their families, and the global economy is extremely high. Medication nonadherence, in particular, is a commonplace and often underrecognized problem among the rare disease community. From lives lost to the cost of expensive unused medicines, tackling this issue can improve patient outcomes and healthcare efficiency.

Rare Disease: Epidemiology and Prevalence

Rare diseases are more common than you might think. A staggering 5% of the global population and 10% of Americans live with rare diseases [2]. This translates into millions of individuals worldwide battling unique health challenges every day.
Consider these key points:

  • Over 7,000 distinct rare diseases exist, affecting approximately 350 million people globally [3].
  • Approximately 50% of people affected by rare diseases are children [3].
  • Strikingly, more than half of people with rare diseases stop taking their medications, intensifying the ramifications of these complex health conditions [4].

Understanding the significant impact and prevalence of rare diseases overall is the first step in comprehending the extent of nonadherence.

Nonadherence and Rare Diseases

Nonadherence to medication regimens is unfortunately common in the rare disease community. This phenomenon can be attributed to several factors:

  • Adverse effects: Treatments for rare diseases often come with challenging side effects that deter patients from maintaining their medication regimen.
  • Psychological factors: Dealing with a rare disease can lead to emotional distress and treatment fatigue, contributing to nonadherence. Taking medication or participating in treatment means accepting the reality of the condition and maintaining ongoing motivation.
  • High medication costs: Rare disease treatments often come with steep price tags that patients cannot afford long-term.
  • Complex treatment regimens: Patients may struggle to follow complicated dosing schedules or manage side effects.
  • Limited availability of treatments: Access to rare disease medications can be challenging due to their scarcity or the need for specialized care.

Cost of Rare Disease Nonadherence

When addressing the cost of rare disease nonadherence, it is imperative to look beyond the direct monetary expense of treatment. From wasted medication to escalating disease severity, the far-reaching effects of nonadherence prove substantial. They also underscore the human cost, sometimes leading to the ultimate price—patient death.

Most concerningly, rare diseases are responsible for 35% of deaths in the first year of life and continue to have an outsized mortality going forwards [3] [5] – 30% of those diagnosed won't see their 5th birthday.

Obvious costs

Rare disease nonadherence poses substantial direct costs, chiefly in medical expenses and wasted, unused medication. The high cost of rare disease treatments consequently escalates the price of medication wastage due to nonadherence. Equally significant is the cost related to the worsening of diseases, potentially leading to more intensive, expensive medical interventions.

In a systematic review published in BMJ Open [6], common (obvious) costs of nonadherence included:

  1. Total healthcare costs: Most studies (83%) use this metric, encompassing the full spectrum of medical expenses resulting from nonadherence.
  2. Pharmacy costs: Accounting for 70% of studies, these costs reflect the financial burden of wasted medication and any necessary adjustments in treatment due to nonadherence.
  3. Inpatient and outpatient costs: These costs, referenced in 46% and 50% of studies, respectively, relate to the expenses associated with hospital stays and outpatient services necessitated by disease progression.
  4. Emergency department visit costs: Capturing 27% of studies, these costs arise from emergencies directly linked to nonadherence.
  5. Medical costs: Found in 29% of studies, this broad category incorporates various expenses tied to managing health complications from nonadherence.
  6. Hospitalization costs: Incorporated in 18% of studies, these costs involve the financial toll of hospital admissions due to disease exacerbation from nonadherence.

Unpacking these "obvious" costs underscores the urgent need to tackle nonadherence head-on. Implementing solutions to address nonadherence can significantly alleviate the financial strain on patients, caregivers, healthcare systems, and society as a whole.

Hidden Costs

The consequences of nonadherence traverse various dimensions, significantly impacting the quality of life for patients and caregivers. These "hidden" costs comprise:

  • Social costs: Reduced participation in the workforce, school, or social activities due to debilitating disease symptoms or treatment regimens.
  • Emotional costs: The emotional toll, including stress, anxiety, and depression, is often associated with living with or caring for someone with a rare disease.
  • Caregiver costs: Caregivers may need to forsake their employment to support patients, leading to lost income and increased financial stress.

Cost of Ineffective Treatment

Nonadherence compromises the effectiveness of treatments, with patients not receiving the full therapeutic benefit due to missed doses. This situation ultimately affects the long-term value and performance of these treatments. In fact, McKinsey listed providing sustained support to patients and caregivers as pivotal to ensuring adherence to the treatment – the fourth pillar of launch success for pharmaceutical companies [7].

When a medication is not taken as prescribed, it may fail to control the disease, leading to disease progression and possibly more expensive treatments or interventions. Not to mention, ineffective treatment can exacerbate a patient's suffering, further inflating the human cost of nonadherence.

Understanding these costs provides a perspective on the true impact of nonadherence and underscores the urgent need for strategic, patient-centered solutions.

Tackling Nonadherence in Rare Disease - New Insights

As strategic partners to global pharmaceutical, life science, and rare disease companies, Atlantis Health is pioneering efforts to understand and mitigate the root causes of rare disease treatment nonadherence worldwide.

The cumulative costs associated with rare diseases – both hidden and apparent – are colossal. Therefore, it is crucial to understand the drivers of nonadherence and seek effective interventions to reduce it.

Our new Rare Disease Nonadherence Report brings these issues into the light. With a deep dive into the causes of nonadherence, it offers invaluable insights to all stakeholders involved in supporting and treating people living with rare diseases.

For an in-depth look at the costs of rare disease nonadherence and potential solutions, we invite you to access our new Rare Disease Nonadherence Report

We can turn the tide on rare disease nonadherence with collaboration and dedication.


Access the report here



  1. FDA (2022) Rare Diseases at FDA. Available at: .
  2. Nguengang Wakap, S. (2019) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Available at: .
  3. What are Rare Diseases? (2021) Rare Disease Genomics Institute. Available at:
  4. Cutler, R.L. (2018) Economic impact of medication non-adherence by disease groups: a systematic review, National Institute of Medicine. Available at:
  5. Mazzucato, M. (2014) A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry, National Library of Medicine. Available at:
  6. Cutler, R.L. (2018a) Economic impact of medication non-adherence by disease groups: a systematic review, National Library of Medicine. Available at: .
  7. Ascher, J. (2017) How to successfully launch a rare disease drug in a patient-centric world, McKinsey & Company. Available at: