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Living With CMT2CHome

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People living with CMT2C

CMT2C is rare, and no two people live it the same way. Meet some of the people in our community and read, in our own words, what the condition has meant in our lives and the work we do to move research forward.

At a glanceEveryone on this page lives with CMT2C, also called TRPV4 neuromuscular disease, and chose to share their story. Each profile is in the person’s own words and is published with their OK. More people will join as they choose to share.

Klaudia Warner

Lives with CMT2C (TRPV4 p.Arg186Gln) · Chicago · Writes this site

Klaudia Warner, smiling, wearing glasses and a black dress with red flowers, on a sunny hilltop with green hills behind her

Who I am

Hello, I'm Klaudia. I live with CMT2C, the TRPV4-related form of Charcot-Marie-Tooth disease, and I have become deeply invested in learning about it: tracking down the research, getting access to the papers and working to understand them. I'm passionate about finding ways to help move things forward, whether that means diving deep into the latest research, exploring medications and supplements that may help, or learning alongside others through both formal research studies and patient-to-patient education.

I believe that those of us living with CMT can't afford to wait on the sidelines. By actively participating in research and clinical trials and supporting one another, we can help drive the progress needed to halt this disease in its tracks.

Professionally, my background is in cybersecurity, cloud, and AI, with product management and leadership roles at Oracle, Apple, and Microsoft. I am currently stepping away from work to focus on my own health and on advancing the CMT community, and I hope to apply my technology and product experience to research, patient advocacy, and improving access to clinical trials.

I am especially interested in what shapes disease severity beyond genetics, because people who share the same variant can be affected very differently [6]. Progress for future generations is deeply important to me.

At home in Chicago, I live with my husband, Justin, our three-year-old daughter, Eden, and our two poodles, Poppy and Sesame.

My CMT2C story

My genetic test found a change in the TRPV4 gene written as p.Arg186Gln (also written R186Q). It was classified as pathogenic and follows an autosomal dominant inheritance pattern [6]. p.Arg186Gln is one of the commonly reported variants in TRPV4 neuromuscular disease [6]. I wrote a guide to TRPV4 variants, including what has been reported about mine.

  1. Early childhood

    I was born with very weak quadriceps, joint contractures and clubfoot. I have had multiple orthopedic surgeries, beginning in early childhood.

  2. September 2026

    I had nerve testing at Johns Hopkins as part of the TRPV4 natural history study, which I follow closely, along with ABS-0871.

    The same month I attended the CMT Research Foundation convention in Cambridge, Massachusetts, near Boston, whose patient day was held on 26 September 2026 [8].

Why I built this site

CMT2C is rare: Orphanet lists its prevalence as fewer than 1 in 1,000,000 people [1]. I am grateful to the organizations that support everyone with CMT, including people with CMT2C. The Hereditary Neuropathy Foundation has a dedicated CMT2C page [2], and the Charcot-Marie-Tooth Association, the CMT Research Foundation and others fund research and bring our community together [110]. I wanted to add one more resource alongside theirs: a single place that gathers what is known about CMT2C specifically, from the biology and the research pipeline to the day-to-day options, in plain language and with sources. So I built it, and I point to their work throughout.

You can read more about them on the Organizations page.

This site also carries on work that Stephanie Carmody started more than ten years ago. She started the TRPV4 patient group on Facebook and has led CMT2C education ever since, connecting patients with researchers and sharing every new finding with the group. I want to continue what she built there and gather it in one place that everyone can reach, including people who are not on Facebook. Stephanie is helping me do that, and you can read her story on this page.

I look forward to connecting with researchers, clinicians, and fellow families. Please feel free to reach out if you'd like to discuss TRPV4 biology, AI in research, or clinical trial access.

If you would like to help research move faster, the Community page explains how to join a study or a patient registry. If you would like to talk, email me at cmt2cinfo@gmail.com or use the Contact page.

Stephanie Carmody

Lives with TRPV4 neuromuscular disease (CMT2C), diagnosed in 2014 · Started the TRPV4 patient group on Facebook · Helps build this site

Stephanie has been a leader in CMT2C education for more than ten years. She started the TRPV4 patient group on Facebook, and she is helping me build this site. In her own words:

A collage of photos of Stephanie Carmody through her life: as a baby; as a young child with leg braces, a walker and crutches; as a girl in a wheelchair; and as an adult in her wheelchair, smiling at the beach, in a flower garden and at a medical appointment
Stephanie through the years.

I am Stephanie Carmody and I've lived with severe neuromuscular symptoms since birth. After initially being misdiagnosed and a long search for answers, I received my true genetic diagnosis of TRPV4 neuromuscular disease (TRPV4 NMD)/CMT2C in 2014 at age 36. I have never been able to stand or walk without full-leg braces, and I have significant neuromuscular breathing weakness, significant vocal cord paralysis, severe scoliosis, foot deformities, hearing loss, and hand weakness.

When I was first diagnosed, I found there was not a lot of information available about my disorder and decided to take action to change that. I founded a Facebook group dedicated to those diagnosed with TRPV4 NMD, connected with the leading TRPV4 NMD research experts, and began speaking at conferences, webinars, and FDA meetings to spread awareness about our rare disorder and push for research progress. The TRPV4 NMD Facebook group grew into a robust and unified patient community that has been able to lead the research progress forward. The amazing engagement of our group members made our TRPV4 NMD INC Registry, the TRPV4 NMD Natural History Study at Johns Hopkins, and Actio Biosciences' (new name being announced soon) ABS-0871 TRPV4 inhibitor drug trial possible.

We have made immense progress since my diagnosis in 2014, and I am incredibly grateful to have been part of the efforts that have led us this far. I am so happy to have been able to help Klaudia as she has built this website in an effort to reach those not on Facebook and share everything possible about CMT2C on one website. It will be an incredible resource!

Patrycia Leja

Lives with CMT2C · Psychiatric pharmacist, director of pharmacy and yoga teacher · Mother of Lena

Patrycia Leja, smiling, on a purple bench with her baby daughter Lena on her lap, in front of a sheer curtain decorated with colorful flowers
Patrycia with her daughter, Lena.

My personal story

My name is Patrycia, and I live with CMT2C, the TRPV4-related form of Charcot-Marie-Tooth disease. I am a psychiatric pharmacist and a director of pharmacy. I also teach yoga, and I am a wife and a mother. CMT affects every one of those roles.

For me, CMT means weak muscles around my shoulders and upper back, discomfort, and constant work to hold my posture. My feet catch and I trip, so I have to think carefully about how I exercise and look after my body. As a yoga teacher, I care a lot about movement and the link between body and mind. A disease that keeps progressing makes that link harder to hold on to, and less predictable.

Becoming a mother has made keeping my strength matter even more. My daughter, Lena, is discovering the world. I want to carry her, play with her on the floor, take her outside to explore, and watch her grow. I want to enjoy that time without always worrying about what my body will struggle with next.

Because I am a pharmacist, I look at this disease through the evidence. I want to know what the studies show, what is still unknown, and what treatments might be possible. I can be hopeful and still want careful science. I also know that behind every study result is a person trying to keep doing something that matters to them.

Many of my relatives have more severe symptoms, including at least four cousins around my age and my sister, who is also my best friend. They hold demanding jobs and raise young children while struggling to breathe, to speak, and to physically care for their kids. They have to explain why they cannot do things other parents take for granted, like carrying their children, tying shoelaces, or opening doors.

Pain is part of daily life for us, and it takes a real toll on our mental health. When I was a little girl, my brave little sister had surgery, and I was scared. I worried she would be frightened or might not wake up, and I knew I had to be strong for her. Even when I struggled to stand tall, I wished I could take it all on myself. I did not know yet that I had the same condition.

Share your story

This page is for everyone in our community who lives with CMT2C, under any of its names, and for the families who live it with them. If you would like your profile here, email cmt2cinfo@gmail.com. A few promises:

  • Your profile is in your own words, and you choose what goes in it: a few lines or your whole story, with or without a photo.
  • I send you a preview first, and nothing is published without your OK.
  • You can change or remove your profile at any time, just by asking.
  • A profile about a child needs the OK of a parent or guardian.

If you are from the FDA, a research team or a clinic and would like to hear more from any of us, please write to the same address.

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