Raising awareness of the hidden costs of Charcot-Marie-Tooth disease

Those of us in the Charcot-Marie-Tooth disease (CMT) community face unique burdens, pains, and grievances that most others aren’t aware of. This is a topic that George Simpson, a volunteer at the Charcot-Marie-Tooth Research Foundation (CMTRF), cares deeply about. He believes that raising awareness of the costs associated with CMT may be key to securing the funding needed to develop treatments and even a cure.

The following are excerpts from my recent email exchange with Simpson. He puts words and figures to feelings that many of us with CMT may have thought we bore in isolation.

Recommended Reading

Feb. 26, 2019 Columns by Young Lee

I’ve Discovered the Importance of the CMT Community

YL: Could you please introduce yourself to the readers of Charcot-Marie-Tooth News?

GS: Ever since we learned our daughter has CMT1A about 13 years ago, my wife, Cleary, and I have worked for various organizations seeking to find treatments or a cure. We helped start the CMTRF because it has a singular mission: to end CMT of all types. I work in communications, writing much of the content on the CMTRF website, and Cleary served as CEO for three years and is now vice chair of the board.

We’ve talked about the costs of CMT, often silently borne by individuals and families. Why is this aspect of CMT life so important to you, and why do you believe so many outside of our community are unaware of the cost?

The direct economic costs of living with CMT are easy to calculate (medical appointments, surgeries, ankle-foot orthoses [AFOs], wheelchairs, walkers, motorized scooters, physical therapy, various drugs to minimize pain, etc.). However, it is very difficult to accurately calculate the overall economic cost of CMT.

One study in Germany found that CMT’s overall cost to society in that country was approximately $735 million annually, or $22,362 per individual with CMT. If you use CMT’s prevalence to extrapolate that cost to the population of the United States, the economic cost of CMT equates to approximately $3.35 billion annually.

Likewise, 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. As disease symptoms progress, people with CMT may need to take increasingly more time off from work or leave the workforce early.

The emotional costs of rare diseases are utterly incalculable. For example, people afflicted by CMT suffer through a lifetime of ongoing physical pain and discomfort, emotional distress, and humiliation. 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. Confinement to a wheelchair is possible, or patients almost certainly end up with AFOs or a cane, because this degenerative, progressive disease advances with time.

The fear of what the future might hold is also a great emotional burden on patients. For example, people with CMT are conflicted about when and how to tell someone they have just started dating about their incurable condition.

I think that unless you have firsthand experience as a patient or caregiver, you’d have no idea of out-of-pocket, incalculable costs, or emotional costs of disabilities such as CMT.

I imagine you believe that if more people became aware of the great burden CMT places on patients and their loved ones, it would go a long way toward increasing support for the CMT community. In your experience, which channels and methods have been most effective for spreading awareness?

Globally, more people have CMT than have muscular dystrophy (MD), amyotrophic lateral sclerosis (ALS), or cystic fibrosis (CF). Yet, the National Institutes of Health (NIH) reports just $9 million [allocated in 2024 to] research grants for CMT. By contrast, the NIH [allocated] $88 million to MD research, $234 million to ALS, and $84 million to CF [in the same year].

Growing awareness of CMT and its total cost through chat rooms, conferences, local events, and coverage by publications like Charcot-Marie-Tooth News helps folks understand that this disease, which they have probably never heard of, is in serious need of treatments and a cure.

***

I admire Simpson’s drive and optimism. Whenever I reflect on the efforts of organizations such as the CMTRF, imminent treatments and a cure for CMT feel almost certain.

Note: Charcot-Marie-Tooth News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Charcot-Marie-Tooth News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.