Tiffany Sharp via Crowdrise
October 18, 2010
BENEFITING: HANNAHS HOPE FOR GIANT AXONAL NEUROPATHY INC
Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.
Giant axonal neuropathy generally appears in early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy.
As the disorder progresses, patients become quadriplegics, dependent on a feeding tube and ventilator before dying in the second or third decade.
Please watch the video of Hannah's parents who discuss more about Hannah, and GAN, and their search for a cure. I promise you that it will move you to tears, and I hope you will join me in helping them.