About Us
Jason and Rachel Walker are parents to Kate, who was diagnosed with Friedreich’s Ataxia (FA) at age 12. Since Kate's diagnosis, the Walkers been dedicated to supporting the Friedreich’s Ataxia Research Alliance (FARA) and its mission to drive research towards treatments and a cure. They’ve also become strong advocates for the rare disease and disability communities. Kate raises awareness for FA and disability in general by sharing her experiences through engaging social media content.
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:
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loss of coordination (ataxia) in the arms and legs
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energy deprivation
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vision impairment, hearing loss, and slurred speech
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aggressive scoliosis
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diabetes
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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.
