As many of you probably know by now, I am living with a rare subtype of Charcot Marie Tooth disease, a neuro-degenerative disease that affects the nerves in my hands, feet and legs. While CMT is a rare disease, CMT type 4C is even rarer, caused by a recessive genetic mutation.

As you probably also know, I tend to be impatient and I am not one to stand by while others do things for me. Last year I was focused on healing from my two foot surgeries. This year, I have made it my mission to complete the missing pieces of the puzzle to 4C treatment or a cure.

- We already know which gene has the problem (SH3TC2)

-Dr. Kleopas Kleopa has published the findings from his (successful) mouse model for a gene therapy for 4C to fix the affected gene

-We have an patient community that I have been working hard to engage - we are ready, willing, and able to participate in trials once they come along

-I have personally met with and spoken to the leading researchers in the 4C world about the next steps and they sound promising

But we are still missing an essential piece: a rigorous, clinical-focused natural history study to show how the disease progresses without treatment, and that confirms the best way to measure this disease progression over time. Without this, there is no way to run a trial for any sort of therapy because there would be no documented "natural progression" to compare it with and no way to measure if it's working. This is step one before anything else happens in humans.

We have identified exactly the right researchers to do this study - they have completed similar studies in other types of CMT that yielded exactly the result we would need. They are willing to put together the plan and execute the study - but it needs to be funded. That's why I am partnering with the CMTA to raise funds for this critical next step in CMT4C research. To complete the caliber of study that we need will be expensive, so I am partnering with other patients from the CMT 4C community so we can aim high. Please help us get this done! It feels good to know we are working toward this specific goal (and the goal is one that I have personally advocated for!) but we know we can't get it done without the support of family, friends, and our community. I am so grateful to you for helping me get this done <3