The Meeting w Doctors from Johns Hopkins

The most profound information that I recall were the videos of the mice that were given the TRPV4 genetic mutation. Their paws were useless and they walked on their forearms oddly. Many didn’t live past 10 days old because they didn’t have the strength to breathe. After being given the treatment, there was footage of a mouse running.

I would like to see more of these mice and eventually see human trials. The main factor standing in the way is funding.

But the doctors need all TRPV4 neuropathy patients to be a part of the database – with access to you, the doctors can continue to better their work and explore the results of their treatments in the near future.

Have any interesting ways to raise money for CMT during a pandemic? It’s time to brainstorm with the community. I wonder what everyone’s talents are.

For My Daughter –

My current life goal is to find a way for my daughter to walk without using KAFOs (knee-ankle-foot-orthotics). She is first-generation CMT (charcot-marie-tooth syndrome), meaning neither me or her father have the gene for CMT. When she was growing inside me, a genetic mutation randomly occurred.

Now, the genetic code to grow long nerves in her legs is disrupted. This means weak nerves which leads to weak muscles that atrophy. Otherwise, she is healthy. She just can’t use all the muscles of her legs because her nerves can’t properly send signals.

Some subtypes affect vocal cords and/or diaphragm and/or arm/hand nerves and muscles.

There is currently no treatment and no cure for any sub-type of CMT. This is why the conference I attended with the CMT community as well as Dr. Sumner and Dr. McCray from Johns Hopkins was so vital.

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