Raising awareness of the hidden costs of Charcot-Marie-Tooth disease
A CMT Research Foundation volunteer shares his insight
Written by |
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.
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.
Cheryle Wheat
I’m 66 years old. My CMT came full speed in my early 30’s. I had both hips replaced after my daughter was born. She didn’t hurt them. They were egg shaped. I’ve had both of my feet reconstructed. Both kneecaps. And over years 5 more hip replacement. I’m grateful for Doctors who have helped to make my live better. But I’m know in wheelchair. I was falling a lot due to balance. I don’t go very much. It’s very hard to. I hate to ask my family. It’s a lot to load my wheelchair or scooter. So I’m very depressed and lonely.
Ellen M Hrymecki
I am 74 years old with CMT. I use a cane & I am in the process of getting a foot, ankle brace for my left foot. I have marked foot drop in my left foot & when I get tired my foot drags. I don't feel it because I have no reflexes from the knees drown & starting to loose feel in my hands.
Ellen M Hrymecki
I am 74 years old with CMT. I use a cane & I am in the process of getting a foot, ankle brace for my left foot. I have marked foot drop in my left foot & when I get tired my foot drags. I don't feel it because I have no reflexes from the knees drown & starting to loose feel in my hands.
H. AL. Ciccarelli
Having CMT is hurting my self esteem & my golf game + other ventures.
God bless,
H A. C.
RPaul Crawford
I have CMT2A. I am 67. I found out I had this condition when I had both of my shoulders replaced. The pain I suffered going into surgery was gone when my surgeon said my muscles. (Biceps) had turned into spaghetti. And he pulled out all he could. I was first dumb founded and perplexed. I only knew the intense constant pain was horrible! Withe broken apart muscle fibers were removed I had no more of the intense pain I had before. I was grateful to my Dr. he was the one that said I needed to see a neurologist for a genetic test. That was when I found out about this disease. I was probably 65. I had to quit work in 2003. Being disabled has always been in my background. I knew that there had to be something, an overriding disease framework to all my symptoms. My typ2A affects my bones and nerve and muscle connections. Orthopedically(?) speaking I have had all but my hands, elbows and ankles replaced. That is also part of my condition. My back has Harrington rods covering from just above waist to mid thoracic area. Underwent anterior and posterior spinal fiusion over six vertebrae. My neck or my left ankle are working to figure out which one goes first. I often wondered why I had such chronic pain day in and day out. I take medicine to knock the top of the pain off so I can function. It had been a very lonely experience to go through. Today I am so happy to at least know what this stuff I have comes under one heading. I thank Dr Turnage MD for caring enough to give me heads up on finding my answers. I am still living with major limits now with balance and nerve tremors fighting me daily. Can’t walk on my L ankle. And my neck is pushing on nerves that limit my arm movements at times. Both arms stop working at same time. I am blessed with a caring and medically trained spouse. She keeps me up and moving even though she works full time as a Nurse Practitioner. God alone knows what comes next. I just live day to day. I watched my grandfather and father both go through the energy losses and the sitting in their chair of choice for many years. I now am doing the same thing!
Evelyn Young
I appreciate the concern and information that CMT helps to make folks aware of the issues that those of us with CMT endure.
Harriette Gilbert
The emotional aspects of a person with CMT are crucial for someone living with CMT. I was diagnosed with CMT1A at the age of 40 years old. My life spent as a professionally trained musician teaching Band in public school, my job as church organist, choir director, accompanist for numerous choral groups, as well as playing piano for my own enjoyment and expression became impossible as the CMT progressed. My life’s identity as a musician came to an end as my hands became too weak to play any instrument and my feet made it impossible to continue as an organist. Conducting instrumental music groups grew more and more difficult as my balance and standing to conduct from a podium on stage became very precarious and emotionally devastating. Before my orthotic foot braces my falls were frequent and embarrassing. My coworkers at school were very judgmental if I could not handle some duties that all are assigned to, saying that it didn’t appear that there was “anything” wrong with me. Even my principal denied me access to a handicapped parking place close to my band room which would have made it so much easier to walk to my classroom. I had an excellent reputation as a band director and was still very capable of teaching up to a 160+ students per day. Other teachers’ main concern was that I could not stand outside to do bus duty, patrol students in the cafeteria, or walk my classes to the gym for assemblies. The gym happened to be the farthest distance from my classroom than any other location in the building. It was said by other teachers that if I could not do my job I had no business teaching. My JOB was to teach band which I was totally able to do. In place of the duties that involved walking long distances and standing to patrol kids outdoors and in non curricular activities, I volunteered to spend my entire planning period in the office distributing medications, answering the phones, running copies of worksheets for other teachers, etc., etc. Needless to say the criticisms and judgmental attitudes of my peers we’re emotionally hurtful. My doctor ended up writing letters to my administrators siting portions of the American Disability policies and their legal obligations to follow the guidelines set forth. Being close to finishing my 30 years in order to retire, I did continue teaching until that time. The students I taught daily that saw my physical struggles and even heard remarks made by their other teachers knew so much of my limitations were so helpful and caring and very defensive and protective of me. It was those students that gave me the will to keep going. I was able to retire in 2006. Since that time, having looked so forward to doing so many things that I enjoy, my physical limitations have altered those expectations considerably. I’ll save the next chapter for later.
Evelyn Young
I appreciate being able to get information about CMT and how others are dealing it. It helps me to understand what I have and realize that I'm not alone in this awful disease.