Kate has a degenerative, neuromuscular condition called Friedreich's Ataxia.
Friedreich’s Ataxia is a rare, degenerative, genetic condition that only affects around 5,000 people in the US and 15,000 people around the world. FA is an inherited disorder that affects the production of a protein called frataxin in the mitochondria. Most people with the disease are diagnosed between the ages of 5-15. Symptoms of FA include fatigue, poor balance and lack of coordination. FA is a multi-system disease, affecting mobility, fine motor skills, vision, hearing, heart function, and various other systems in the body. FA does not affect cognitive ability.
causes of FA:
loss of coordination (ataxia) in the arms and legs
fatigue - energy deprivation and muscle loss
vision impairment, hearing loss, and slurred speech
aggressive scoliosis (curvature of the spine)
diabetes mellitus (insulin dependent, in most cases)
serious heart conditions, including hypertrophic cardiomyopathy and arrhythmias
All symptoms are not present in all individuals with FA. For example, diabetes occurs in about 15-20% of individuals with FA.
FA is an inherited single gene disorder.
It is estimated that 1 in 100 people are carriers, and carriers do not exhibit symptoms of FA.
Mutations or DNA changes in the FXN gene cause FA. It is inherited in an autosomal recessive manner, meaning that individuals with FA have two mutated or abnormal copies of the FXN gene. Both biological parents must be carriers of the disease for a child to be affected. Each such carrier parent has one mutated gene (allele) and one normal gene (allele) in the FXN gene. Because each child gets one of the mother’s genes and one of the father’s genes in this location, there are four possible combinations of the genes passed down to the child...a 25% chance that the child will have FA.
Video: Jake and Friedreich's Ataxia
Jake does a great job of explaining the science of FA!