After they were born, we discovered each of our children had a 25% chance of inheriting a degenerative genetic neuromuscular disease affecting the peripheral nervous system. As a result, three of our six children have been diagnosed with CMT 4C, a condition inherited from a recessive gene from both parents. They already experience or will face a long list of progressive problems, including high arches, hammertoes, claw-like hands, spinal abnormalities, cataracts, deafness, high or flat arches, respiratory problems due to the progression of the disease and diaphragm weakness, bony or joint abnormalities, and central nervous system involvement (issues with cognition or other brain functions). This means spinal rod insertion surgery (our oldest has already had this), increased nerve and muscle pain, loss of peripheral limb function, and more.

Despite this, they maintain a very positive attitude, faith, and hope in life, no matter what their outcome. They are my heroes.

https://www.cmtausa.org/understa.../types-of-cmt/cmt-type-4/

The good news:

A gene replacement therapy has now found proof of concept as a result of statistically significant improvement in each mouse model behavioral analysis (i.e. motor performance in rotarod and foot grip measuring muscle strength, motor nerve conduction velocities, myelination in lumbar roots and sciatic nerves, etc.)

Clinical trial phase planning is now being led here in the United States by Steven Gray, PhD, University of Texas Southwestern Medical Center following this overseas successful research by Kleopas A. Kleopa, Senior Consultant Neurologist, head of Neuroscience Department, the Cyprus Institute of Neurology and Genetics, Cyprus.

https://www.cell.com/.../fulltext/S1525-0016(23)00452-5

https://www.researchgate.net/.../331995656_Gene...

Our primary barrier now is funding.

A “foresee” project sponsored in partnership with the CMTA will help us clear our funding hurdle, but like anything else requires intense patient advocacy. We have connected with 4C patients worldwide supporting fundraising efforts like this one of mine.