Rare Disease Medication Nonadherence Stats: Too Big To Be Ignored


Rare disease medication nonadherence rates are among the highest of any conditions – similar to what is observed across chronic conditions. As a result, rare disease medication nonadherence stands out as a critical subset of the broader medication nonadherence issue.  

Roadblocks obstructing patients from adhering to their medications can emerge from multiple fronts: the patient, the provider, or even the health system. 

Rare Disease Stats: A General Overview 

When we explore the data, the impact of rare diseases is profound: 

  • There are upwards of 7,000 distinct rare diseases, inflicting about 350 million people worldwide [2]. 
  • These diseases account for 35% of fatalities in the first year of life, sustaining an oversized mortality rate in subsequent years. Tragically, 30% of those diagnosed won't live to see their 5th birthday [3] [4]. 
  • People in the United States with rare diseases have poor health-related quality of life (HRQOL) and high stigma related to patient satisfaction and health care access, consistent with previous research, according to a recent study published in Orphanet Journal of Rare Diseases. 
  • A significant 80% of rare diseases are genetically rooted, underscoring the possibility of familial transmission [6]. 

Chronic Disease vs. Rare Disease: Nonadherence Rates 

Medication nonadherence presents a formidable challenge across the healthcare spectrum. For chronic conditions like diabetes and hypertension, it's troubling that nonadherence rates hover between 50-60%, as reported by the National Institutes of Health (NIH) [8]. This means that a significant fraction of patients aren't adhering to their medication regimens, leading to adverse health outcomes and inflated healthcare costs. 

However, the picture is slightly worse for rare diseases. Our examination of data across several distinct rare diseases reveals nonadherence rates of 58-65% [9]. Given the typically severe and progressive nature of most rare diseases, one might expect better adherence. However, these conditions come with a unique set of challenges— limited treatment options, lack of knowledge among Healthcare Providers, a sense of isolation, diagnostic hurdles, and limited resources—that contribute to higher rates of nonadherence. 

The implication? Addressing rare disease medication nonadherence demands targeted and personalized strategies, considering the specific needs and barriers faced by patients with these conditions. 

The Cost of Medication Nonadherence 

The cost burden attributed to medication nonadherence is colossal: 

  • In the US, nonadherence to prescribed treatment alone is speculated to precipitate a staggering 100,000 preventable deaths and a whopping $100 billion in unnecessary medical costs every year [7]. 
  • When accounting for the disease-specific financial toll of nonadherence per person, the economic strain fluctuates from $949 to $44,190 (using 2015 US$), signifying a substantial drain on healthcare resources [9]. 
  • The annual cost per patient for rare diseases swings from $8,812 to $140,044, compared to $5,862 for those without a rare disease. Diseases with the steepest costs include Urea Cycle Disorders (UCD), Lennox-Gastaut Syndrome (LGS), and Behcet's Syndrome (BD) [10]. 
  • Patients with rare diseases endure longer average hospital stays (6.3 days versus 3.8 days for common conditions) and nearly double the average total charges per hospital discharge ($69,275 versus $36,718) [11]. 

New Report - Reasons for Rare Disease Medication Nonadherence 

Given the high rates of rare disease medication nonadherence, Atlantis Health sponsored a global rare disease nonadherence research study. The reasons for rare disease medication nonadherence varied across individuals but we primarily centered around patient beliefs about their disease and treatment. 

To learn more, you can access the new Rare Disease Nonadherence Report below. 

Using the valuable insights from our new global rare disease nonadherence study, let's strive to improve adherence, enhance patient outcomes, and ultimately empower those living with rare diseases. 


Access the report here



  1. Center for Disease Control and Prevention (CDC). Tailored Pharmacy-Based Interventions to Improve Medication Adherence. Published February 24, 2023. Accessed on June 22, 2023. https://www.cdc.gov/dhdsp/pubs/medication-adherence.htm.
  2. US Food and Drug Administration (FDA). Rare Diseases at FDA. Published on December 13, 2022. Accessed on Jun 22, 2023. https://www.fda.gov/patients/rare-diseases-fda.
  3. Rare Genomics Institute. Rare Disease Facts. n.d. Accessed on June 22, 2023. https://www.raregenomics.org/rare-disease-facts/.
  4. Mazzucato, M., Visonà Dalla Pozza, L., Manea, S., Minichiello, C., & Facchin, P. 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. Orphanet Journal of Rare Diseases. 2014; 9(1): 1-12.
  5. Watanabe, J. H., McInnis, T., & Hirsch, J. D. Cost of prescription drug–related morbidity and mortality. Annals of Pharmacotherapy. 2018; 52(9): 829-837.
  6. Batshaw, M. L., Groft, S. C., & Krischer, J. P. Research into rare diseases of childhood. JAMA. 2014; 311(17): 1729-1730.
  7. Kleinsinger, F. The unmet challenge of medication nonadherence. The Permanente Journal. 2018; 22.
  8. Atlantis Healthcare. Unique Patient Challenges and Support Solutions in Rare Disease. 2014.
  9. Cutler, R. L., Fernandez-Llimos, F., Frommer, M., Benrimoj, C., & Garcia-Cardenas, V. Economic impact of medication non-adherence by disease groups: a systematic review. BMJ Open. 2018; 8(1): e016982.  
  10. Tisdale, A., Cutillo, C. M., Nathan, R., Russo, P., Laraway, B., Haendel, M., ... & Pariser, A. R. The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems. Orphanet Journal of Rare Diseases. 2021; 16, 1-18.  
  11. Navarrete-Opazo, A. A., Singh, M., Tisdale, A., Cutillo, C. M., & Garrison, S. R. Can you hear us now? The impact of health-care utilization by rare disease patients in the United States. Genetics in Medicine. 2021; 23(11): 2194-2201. 
  12. Jacquelet, E., Poujois, A., Pheulpin, M. C., Demain, A., Tinant, N., Gastellier, N., & Woimant, F. Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease. Journal of Inherited Metabolic Disease. 2021; 44(6): 1481-1488.