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The incalculable costs of rare diseases for individuals, families and society

George Simpson unpicks the enormous and varied costs of rare diseases, such as Charcot-Marie-Tooth disease (CMT)

By George H Simpson, Charcot-Marie-Tooth Research Foundation

Diseases we cannot ignore

You might think that if you or someone in your extended family doesn’t have a rare disease that there is no impact on your life, and you can simply worry about the better-known chronic conditions that haunt our nation, such as heart disease, cancer, stroke, chronic obstructive pulmonary disease and diabetes, that routinely kill two out of every three Americans.1 But as a society we cannot ignore the economic and other costs of little-known diseases like Charcot-Marie-Tooth (CMT).

Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause damage to the peripheral nerves—the nerves that transmit information and signals from the brain and spinal cord to and from the rest of the body, as well as sensory information such as touch, back to the spinal cord and brain.2 Charcot-Marie-Tooth (CMT) is one of the most common inherited neurological disorders impacting 3 million globally and over 150,000 in the United States. However, the CMT Research Foundation (CMTRF) is convinced that a larger cohort of impacted individuals is undiagnosed or misdiagnosed.

The economic cost of rare diseases

There are more than 10,000 rare diseases, affecting more than 400 million people worldwide,3 and in 2019 the total economic cost of just 379 of these rare diseases was estimated at nearly $1 trillion ($997 billion)—in the United States alone.

This enormous economic cost surpasses the economic impact estimated for many of the costliest chronic, non-rare diseases, such as diabetes, heart disease and cancer.4 

The figure of $997 billion includes a direct medical cost of $449 billion and an additional $548 billion in indirect, non-medical costs, and healthcare costs not covered by insurance (non-covered costs)4—costs absorbed directly by families. 

The economic costs of CMT…

While it is difficult to accurately calculate the overall economic cost of CMT, one study in Germany was instructive. It found that CMT’s overall cost to society there was approximately $735 million annually, or $22,362 per individual with CMT.5

If you use disease prevalence to extrapolate that cost to the population of the United States, the economic cost of CMT equates to approximately $3.35 billion annually.

This includes the costs of healthcare (surgery, genetic testing, prosthetics and general care) but does not include the cost of counselling and other forms of emotional support, or the cost of patients not being fully functioning parts of the US economy.

…the non-economic costs

The non-economic costs of CMT are incalculable, as they are for other rare diseases, too. People afflicted by CMT suffer through a lifetime of ongoing physical pain, emotional distress, humiliation, and ongoing discomfort.

People with CMT can find it very difficult to walk, pick up small objects, get dressed, or engage in any form of robust physical activity. Surgery can sometimes provide temporary support and relief from the worst of the symptoms. Depending on the form and type of the disease, confinement to a wheelchair is common, because this progressive disease advances with time. 

The fear of what the future might hold has a great emotional toll on patients. Socially, there is an enormous burden too. Children may feel excluded by their peers and distressed by that. They may be the last one picked for the sports team or be laughed at because they are different.

All of this is the difficult life of someone who has CMT. The costs they and their families face are unimaginably high, extending far, far beyond the economic costs they and society have to bear.

CMT Research Foundation

Despite the very high economic and other costs of CMT, research into the disease is underfunded. For example, the National Institutes of Health (NIH) total budget in 2021 was $43 billion; of that, only $17 million was spent on CMT research. In the same year, NIH spent $126 million on multiple sclerosis research and $120 million on ALS research, both of which have a smaller prevalence than CMT.6

That is why the CMT Research Foundation exists. We are a patient-led, non-profit focused solely on delivering treatments and cures for Charcot-Marie-Tooth disease by supporting biomedical research.

Our impact goes beyond simply making investments. We identify key problems or gaps in progress to a cure, then find partners to attack the problems. We introduce CMT to the greater drug development community; something that has rapidly increased the number of experts working to solve the disease.

Renowned researchers discuss “Unlocking the Genetic Secrets of CMT” at
CMTRF’s 2022 Global CMT Convention

Contact details for George H. Simpson



  1. Raghupathi W, Raghupathi V. An Empirical Study of Chronic Diseases in the United States: A Visual Analytics Approach to Public Health. Int J Environ Res Public Health. 2018 Mar;15(3):431.
  2. Charcot-Marie-Tooth Disease. National Institute of Neurological Disorders and Stroke. Accessed March 1, 2023.
  3. Homepage [Internet]. Global Genes. [cited 2023 Feb 9]. Available from:
  4. Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. The national economic burden of rare disease in the United States in 2019. Orphanet Journal of Rare Diseases. 2022;17(1):163. doi:10.1186/s13023-022-02299-5
  5. Schorling E, Thiele S, Gumbert L, et al. Cost of illness in Charcot-Marie-Tooth neuropathy. Neurology. 2019;92(17):e2027. doi:10.1212/WNL.0000000000007376
  6. RePORT. Accessed March 1, 2023.

Rights and permissions The data about the national economic burden of rare disease in the United States in 2019, the figure and key (simplified here) are from the article by Yang, Cintina, Pariser et al, cited above. It has a creative commons licence.

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