CMT2C brings hidden mental work that most people never see.
It looks different in everyone, so nobody can tell you exactly what is ahead.
Having words for it, and people who get it, makes it easier to carry.
Words for what you feel
Naming an experience makes it easier to understand, and easier to explain to the people around you.
Invisible labor
The hidden planning behind every day: stairs, distances, the steadiest shoes and how much energy a day will cost, on top of appointments and insurance. Researchers use the term invisible work for necessary tasks that take real effort but go unrecognized by others. In one interview study of people with several long-term conditions, keeping track of their medical information and passing it between doctors was a great deal of work that health services largely did not see [259].
You might sayEven a simple outing takes a lot of planning for me.
Illness uncertainty
The stress of not knowing how your condition will unfold. With CMT2C, nobody, not even experts, can accurately predict which symptoms you will get, when they will start or how severe they will become [6]. Researchers describe living with continual uncertainty as a real part of long-term illness [145].
You might sayThe hardest part is not knowing what is coming.
Variable expressivity
A genetics term: the same gene change can look very different from person to person, even within one family [6]. Some people stay mildly affected, while others develop weakness in their hands, voice or breathing [6].
Same gene change, different paths
You might sayMy CMT2C may look nothing like someone else’s, even a relative’s.
Anticipatory anxiety
The name for worry that looks ahead to what might happen, rather than at what is happening now [260]. A new stumble or an unfamiliar feeling can quickly raise the question: is this the start of something worse? In long-term illness, worry about the condition getting worse is common and understandable, but when it becomes intense it can wear down well-being and daily life [261].
You might saySmall changes can make me worry about the future.
Chronic sorrow
Grief that does not happen just once. It comes back in waves, often when something changes or a new adjustment is needed [144].
You might sayI can be okay with this and still grieve it sometimes.
Why it can feel lonely
CMT2C is rare [1] and looks different in everyone, so it is hard to find someone whose experience matches yours. Reliable information is scattered across research papers, organizations and online groups.
That is why two things matter so much:
Information in one place
So you can learn, ask good questions and make decisions without hunting for answers. That is why I built this site.
A community that shows up
Someone else’s CMT2C may not look like yours, but they understand the hidden effort, the fog of not knowing and the grief that comes and goes. The Community and Organizations pages show where to find them.
Every shared story adds to a fuller picture of this condition, for patients and for the doctors and researchers trying to understand it.
We don’t need identical experiences to support each other. We just need to keep showing up for one another.
What helps
When the future feels unclear, these four steps can help.
1
Come back to today
You can’t control what your nerves will do in ten years, but you can choose what you do today.
2
Learn what you can
Read about your condition, starting with What is CMT2C?, and bring good questions to your care team.
3
Decide based on what is known
Small, concrete steps give your mind something real to work on, instead of an imagined future. The 90-day action plan is one place to start.
4
Leave room for the good
Uncertainty works both ways. Not knowing means the worst case isn’t a given either.
Your story is still being written, and there is real room in it for good days, good years and pleasant surprises.
Researchers who study long-term illness have found that, over time, some people come to see uncertainty less as a threat and more as an opening [145].
CMT2C looks different in everyone, so every story adds something. Here, people living with it, and the families who care for them, share their stories in as much or as little detail as they like.
Klaudia Warner
Chicago
TRPV4 R186Q
Confirmed in 2020
“Hi, I’m Klaudia. I live in Chicago with my husband Justin, our three-year-old daughter Eden and our two poodles, Poppy and Sesame.”
My CMT2C
I was born with very weak quadriceps, joint contractures and clubfoot, and I’ve had several orthopedic surgeries since early childhood.
What helps me get by
Gentle strength training twice a week that stops well before failure. Taking part in research, like the Johns Hopkins TRPV4 natural history study.
Supplements I take
Alpha-lipoic acid, nicotinamide, CoQ10, urolithin A, creatine, curcumin, magnesium glycinate, L-theanine, and vitamins D3 and K2. None is proven to treat CMT2C, and I review my list with my care team. Doses are in my supplement list.
What’s hardest
Not knowing what’s ahead. People with my exact variant can be affected very differently, so there’s no clear answer about my future. That, and all the invisible planning that goes into ordinary days.
Why I share
Progress for future generations matters deeply to me. The more of us who share, the clearer the picture of CMT2C becomes.
Would you like to share your story? Email me. I’ll send you a preview, and your story goes up only once you’re happy with it. If your story is about a child, a parent or guardian needs to agree.
A simple hello, like “Hi, I’m Ana and I have CMT2C”
A photo of you or your family
Your symptoms and how they’ve changed
What helps you get by
Medications or supplements, if you like
What’s hardest for you
Share as little or as much as you’re comfortable with. Families and caregivers are welcome too. You can ask me to change or remove your story at any time.
