Editor’s Note: Patient Worthy is pleased to share this article, submitted to us by George Simpson, who volunteers for the CMT Research Foundation.
There are estimated to be between 6,000 and 10,000 rare diseases affecting approximately 300 to 400 million people worldwide and we are foolish to ignore the economic and emotional costs.
For example, the global cost of more than 3 million patients with Charcot-Marie-Tooth (CMT) is estimated to be $36 billion per year. This only includes the costs of healthcare (surgery, genetic testing, prosthetics and general care) but does not include the cost of patients not being fully functioning parts of the US economy, counselling and other forms of emotional support.
As disease symptoms progress, people with CMT may need to take increasingly more time off from work or leave the workforce early. Up to 40-50% of individuals with CMT are either in early retirement, unemployed or working with reduced hours, or have changed their intended professions or workplaces. Half of working individuals do not disclose their diagnosis of CMT to their employer or colleagues probably due to fear of stigma or loss of employment.
The indirect costs of providing for someone with a rare disease can sneak up on caregivers. I spoke with one woman who parked her car for five days (in a patient-discount section of a hospital garage) only to be handed a bill for almost $150. “It was kind of like the last straw,” she said, “I simply burst into tears.”
There is no way to calculate the cost to caregivers who might have to sacrifice their jobs or hobbies or what little downtime they might have to support a patient in their immediate or extended families. Yes, you can formulate a number that covers paid care brought in from outside the family, but not for parents, siblings or grandparents who all help out in some way or another. Cost to build a ramp next to the stairs? Calculated! Cost to carry your child from room to room or be driven to school because they can’t negotiate the steps of the bus? Incalculable!
The emotional costs of rare diseases are similarly incalculable. For example, 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 possible or patients almost certainly end up needing leg braces or a cane, because this degenerative, progressive disease advances with time.
The fear of what the future might hold also is a great emotional burden on patients. People with rare diseases are conflicted about when and how to tell someone they have just started dating about their incurable condition. On the first date? After sleeping together the first time? When the relationship turns serious? Too many times the other person disappears without explanation, leaving the patient in emotional limbo with no direction about how to handle similar future conversations. Saying nothing seems entirely dishonest and runs the risk of driving away a potential partner well into the relationship.
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. Most patients do not in any way want to be defined by their disease, but it may be inevitable if the physical manifestations are obvious. And frankly, having symptoms NOT obvious takes another kind of toll. Why is Jim or Jane falling to the ground when there was nothing but smooth concrete under their feet? Why can’t they open the top to the jelly jar?
While gene therapy shows tremendous promise for rare diseases, predicting exactly how many rare diseases will be cured by genetic medicine remains uncertain. Currently, approximately 95% of the 6,000+ known rare diseases still have no FDA-approved treatment. Since somewhere between 72-80% of rare diseases have genetic origins, roughly 5,000-8,000 represents the theoretical maximum addressable by gene therapy. However, practical challenges remain substantial. Each genetic condition often requires customized treatment development, and breakthrough approaches like personalized CRISPR therapies, while demonstrating success in individual cases, are time-consuming and expensive to develop. The field continues advancing with new funding initiatives and platform technologies aimed at accelerating treatment development often supported by nonprofits like the CMT Research Foundation.
The direct medical costs of CMT can be roughly estimated, but not the indirect costs (like an inability to hold a full-time job) nor the emotional and social costs.
The joy of curing a rare disease: totally incalculable.
