Amber
At the age of 3, Amber was walking and running, like any kid her age. But around the time she turned 4 we noticed Amber falling. Our concerns grew as the falls became more frequent.
We knew something wasn’t right, so we took her to the doctor who said Amber might be pigeon-toed or bowlegged and that she would grow out of it. But a year went by and Amber got worse.
On December 14, 2015, Amber was diagnosed with Giant Axonal Neuropathy – a rare neurogenetic disorder seen in children before the age of 5. Amber enjoys swimming, ballet, and other exercise. She also likes to play the piano. Amber is the strongest girl I know. We call her Super Girl!

~Mieguel, Amber’s Dad

Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons. Axons are specialized extensions of nerve cells that transmit nerve impulses. Symptoms of the disorder first become apparent in the peripheral nervous system, in which long axons connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. However, axons in the central nervous system are affected as well.

The signs and symptoms of giant axonal neuropathy generally begin in early childhood and get worse over time. Most affected individuals first have problems with walking. Later they may lose sensation, strength, and reflexes in their limbs, experience difficulty coordinating movements, and require wheelchair assistance. Visual and hearing problems may also occur. Many individuals with this condition have extremely kinky hair as compared to others in their family.

Giant axonal neuropathy can also impact the autonomic nervous system, which controls involuntary body processes. Affected individuals may experience problems with the release of urine, constipation, heat intolerance, and reduction in or loss of the ability to sweat.

Artist: Jota Leal