Make it Happen CureFA is a 501(c)(3), non-profit organization created by the Walker family. MIH is committed to finding a cure for Friedreich's Ataxia (FA) and providing assistance to those impacted by FA and rare disease.
What is a rare disease?
A rare disease affects no more than 200,000 people at one time.
There are around 7,000 known rare diseases.
Only 5% of all rare diseases have FDA approved treatments.
a rare disease diagnosis can leave the patient feeling ALONE and RESTRICTED
CONNECTION and SUPPORT are important for a rare disease patient
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. 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.
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.
Causes 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.