My Introduction

[Guest guest]

My name is Magaen Bates. I have a 9-year-old son that was diagnosed with Giant

Axonal Neropathy (G.A.N.) in December of 2006 at Hopkins by Dr.

Crawford. Before our G.A.N. diagnosis we were believed to have both CMT and FA.

Dr. Crawford believes that G.A.N. should actually be classified as one of the

axonal CMTs. He believes that there are probably several children that have been

diagnosed with one of the axonal CMTs that are actually G.A.N. patients. That

got me thinking, what if there are other G.A.N. patients that we don't know

about that have been misdiagnosed as CMT. Here is a description of G.A.N.

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 infancy or 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, occurring in almost

all affected people.

As the disorder progresses, the brain and spinal cord (central nervous system)

may become involved, causing a gradual decline in mental function, loss of

control of body movement, and seizures.

This year another child was diagnosed with G.A.N. Her family formed a non-profit

organization called Hannah's Hope Fund to raise awareness and funding for

research. The website address is www.hannahshopefund.org

Their family made a video telling about G.A.N. - http://www.vimeo.com/944475

We also made a video telling our story, as well as another family with G.A.N. -

http://www.vimeo.com/997834

There are so many families out there that have been diagnosed with several

things and maybe they are not still not sure. Please check out our website and

watch our videos. If you think you may know someone with G.A.N. please tell them

to contact us.

Magaen Bates