The information below is provided by
the Friedreich's Ataxia Research Alliance (FARA):
Friedreich’s Ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have FA. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with FA and will lead to treatments that eliminate symptoms associated with FA.
Signs & Symptoms
· 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 condition (enlarged heart - hypertrophic cardiomyopathy)
· The mental capabilities of people with FA remain completely intact.
These symptoms are not present in all individuals with FA. For example, diabetes occurs in about 10-20% of individuals with FA. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most people diagnosed with early onset FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
For more insight into my specific case of FA and the manifestation of my symptoms, visit the About Kendall page.
Cause
FA is a genetic disease. To be diagnosed with FA, you have to inherit a faulty DNA strand from each parent. So there are two faulty DNA strands I inherited from my parents – one from Mom, one from Dad. Recessive carriers show no symptoms of the disease.
The gene mutation inherited by FA patients limits the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production.
We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
Treatment
There is currently no cure for FA. However, FARA is funding research to find a cure. FARA and the FA community believe the treatment era for FA is now! As a result of great advancements to understand the cause of the disease, new treatment approaches to address the causes of FA such as gene mutation, frataxin production, iron sulfur clusters, and mitochondrial function are being studied.
A full listing of treatment initiatives can be viewed in FARA’s research pipeline. Several of these treatments will be in clinical trials which require patient participation. Until we find a cure, patients are simply monitored for symptom management.
The Good News
We already know what causes FA. We know that a cure is out there, we just need the support to go and find it! That is why Team Kendall is joining FARA on a mission to raise funds and awareness for this disease. Together we will cure Friedreich's Ataxia!
