Who We Are
Jason and Rachel Walker are parents to Kate. When Kate was 12, she was diagnosed with a rare disease called Friedreich's Ataxia. Since Kate's diagnosis, the Walkers have devoted themselves to supporting FARA (Friedreich's Ataxia Research Alliance) and their mission to find treatments and a cure for FA. They have also worked to become advocates for the rare disease and disabled communities and to promote the shared support of the FA family. Kate has produced hours of social media content to create awareness for the FA, rare disease, and disabled communities.
What is Friedreich's Ataxia?
Friedreich's Ataxia is a rare, degenerative, neuromuscular 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. Onset of symptoms can occur at varying degrees of severity from childhood to adulthood. 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.
FA Symptoms:
-
loss of coordination (ataxia) in the arms and legs
-
energy deprivation
-
vision impairment, hearing loss, and slurred speech
-
aggressive scoliosis
-
diabetes
-
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.
Cause of 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.
Hi!
My name is Kate Walker
I am 20 years old and a junior at the University of Arkansas. I am double majoring in supply chain management and marketing. I am a full-time wheelchair user now. Most of the time, I use a motorized chair because it helps with my fatigue level and increases my independence. I still have the ability to walk short distances with a lot of assistance. I stay pretty active, I see my physical therapist 2x a week and my personal trainer 3x. My heart has developed mild hypertrophic cardiomyopathy, but it is not something that my doctors are very concerned about. We just keep a close eye on it in case of any change. My speech and hearing are only mildly affected. To keep up with my journey with FA, you can follow me on KateisRare.