This is our son, Kody. On July 23rd, 2003 the diagnosis
of Friedreich's Ataxia was confirmed. This page goes into what FA is and will be updated as we gain more information
about the disorder.
You may be wondering just what this
condition called Friedreich's Ataxia (FA) is. Well thats understandable since before our son was
diagnosed we ourselves had never heard of it either. There is alot that goes with
the condition but first thing that should be explained is that this is a progressive, degenerative neuromuscular disease.
Thats just long medical terms for a disease that keeps progressing and is believed to involve both the muscles and
the brain. Below is a video that explains things somewhat that was found on www.youtube.com . This disorder has caused it so that walking is almost impossible. When Kody is out he has to be in a wheelchair due
to muscle weakness, loss of feeling in his legs, and the heart conditon (Hypertrophic Cardiomyopathy)
that causes general fatigue as well as weakness. You wonder where the heart conditon comes in? Hypertrophic
Cardiomyopathy is a secondary condition that was caused by his Friedreich's Ataxia. The heart
condition has caused his heart's left chamber to thicken as well as stiffen. This in turn has caused a significant
decrease in the size of both of the left chambers. So now Kody's heart isn't able to relax in between beats which
is something the unaffected heart is able to do. So between the inability to relax and the reduction in the
size of the chambers his heart is working on overload all the time. Blood pressures in the arms and legs have dramatically
decreased but not stopped all together. So Kody has went from a healthy looking 82 lb boy to a 60 lb child between 10/07
and 06/08. He also has the scoliosis which if people aren't familiar with the term it is an abnormal curvature in
the spine. If the spine is too curved doctors tend to do surgery to correct or straighten the spine out. Since
our son has the heart condition progressed at the degree that it is the surgery is out of the question. Why? Because
his heart more then likely would not be able to handle the strain of the surgery. Below I have added a parent group
that consist of around 500 or so families that have children with FA. Also the link to Kody's caringbridge site
that has been updated and follows the progression of this disorder.
** Friedreich's Ataxia is an inherited genetic disorder in which both parents would be carriers of the autorecessive
gene for the FA. **
