Charcot Marie Tooth Disease - CMT Disease - Hereditary Neuropathy

Elizabeth Ann Manhart Barrett, RN; PhD; FAAN
Co-Principal Investigator


Carole Birdsall, RN; EdD; ANP; FCCM
Co-Principal Investigator


Message from Allison Moore
President, Hereditary Neuropathy Foundation


One of our most important missions at HNF is to show people what it’s like to live with Charcot-Marie-Tooth (CMT). Unfortunately, our disease is still relatively unknown to the general public. As one participant aptly noted, “Because you don't have a broken leg or something readily visible, most people don't understand.” Indeed, people frequently ask us questions about our symptoms, our daily challenges and our treatment options, and we try to give them an idea of what it’s like to live with a progressive, hereditary disorder, but our descriptions fall short.

To address this issue, we asked ourselves: How can we hope to promote a better understanding of the disease if we can’t properly describe it? Our answer was to commission our first research study about what it’s like to live with CMT. We were fortunate to draw on the expertise of two highly experienced investigators who conducted interviews with more than 80 people. Our goal was to delve deeper into the world of CMT and to paint a vivid picture of some of the emotional, spiritual and psychological challenges that accompany the physical challenges brought on by this disease.

These interviews brought to light a range of different experiences. Some were devastating, others courageous, many were heart-wrenching; often they were inspiring; all were fascinating. They told us about the good, the bad and the ugly of living with a disease often not recognized or understood by family, friends and surprisingly, even physicians. Read this study to learn what it’s like to live with CMT as told to the researchers by those who know it best.



PURPOSE

The aim of this study was to gain a clearer understanding of the experience of living with Charcot-Marie-Tooth (CMT). To date, the research has consisted primarily of quantitative studies. While quantitative research is critical to obtaining knowledge related to more effective treatment outcomes, it does not speak to the experience of what it is like to actually live with the effects that this disease has on people. The information within this phenomenological study that used a modified Van Kaam approach goes beyond individual reports, anecdotal evidence, and quantitative descriptions to describe the impact of CMT on various aspects of life. Our hope is that it will help people with CMT learn more about how the disease is affecting others. In addition, we hope to educate health professionals about some of the lesser-known symptoms, emotions and experiences of people with CMT, so they can get a better handle on how to deal with CMT patients and their families.

PROCEDURE

Data was collected using a Web-based approach. Participants responded to an invitation to participate that was placed on the Website of the Hereditary Neuropathy Foundation (HNF) where participants accessed a Webpage that allowed them to complete the questionnaire and submit their responses confidentially online. The researchers culled the salient points from the interviews and combined them to showcase the highlights.


You can read the full research findings in our 2nd Essential Guide booklet, What It’s Like to Live with CMT available here.