A CMT-US Facebook group poll in 2015, with 121 members responding, showed the average length of time between symptoms appearing and a final diagnosis of CMT was 19.5 years!
Respondents who had symptoms before the age of 18 had an average of 21.5 years before diagnosis.
Those who had symptoms at age 18 or older received much quicker diagnoses, with an average of 7.5 years.
I recently posted my own poll in the CMTUS group by asking how long people had lived without a proper diagnosis.* The results (at 238 responses) were:
- 31-40 years (70 people!)
- 0-10 years (55 people)
- 41-50 years (44 people)
- 21-30 years (35 people)
- >50 years (15 people)
- 11-15 years (11 people)
- 16-20 years (8 people)
My take is there have been a lot more people getting early diagnoses in childhood since the 1990s, but those of us born in earlier decades had to reach this point in time around 2000 and beyond when CMT started to be more widely known as a disease.
The likelihood of a doctor knowing about CMT probably has picked up exponentially since the 1990s, and at some point in the 00s anyone could search and poke around the internet and find images (of feet!) and stories to match their own.
That is also thanks to the maturation of genetic research combined with the advocacy and research support of the HNF and CMTA.
In the past the norm was we didn’t get a diagnosis, so family and friends just shrugged it off and called us “clumsy” or pretended nothing was wrong. I hope this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became obviously atrophied.
I have a lot of questions about how others dealt with life with an undiagnosed, invisible disease, as a child and as an adult — and how that past history changes in retrospect when you realize how far you were from “normal” — and that you didn’t get the help or understanding you needed and deserved.
Please get in touch if you have stories to share about that.
*My poll has remained open, so I may update it in the future. The CMTA reports a much lower average time to diagnosis of 2.5 years. I don’t know what that figure is based on, but I’m guessing it’s people who have interacted with the CMTA in the process of getting a diagnosis in the time the organization has existed and tracked this data. That will be people younger than me. As well, my poll on Facebook is inherently more likely to be responded to the by older people who are most likely to be on Facebook and active there.
It was only with genetic research following the mapping of the human genome that CMT and the CMTA really grew and became known to more people in the US. When I was first trying to understand what was up with my feet as a teenager in the late 1980s-1990s, I did not run into anyone who knew about CMTr, even though I was in the metro-New York city area when I started looking for diagnosis.
Those of us with stories like mine are likely the middle-aged and older cohort among the total population of people who have been diagnosed with CMT. As more young people are diagnosed early now — as I wasn’t — and late-onset cases are more readily identified in adults, the time-to-diagnosis should be lower and lower. Still, I suspect it is often a very long process for many people who do not run into informed and attentive physicians.