Friedreich’s ataxia, a genetic condition, disables its patients without a cure.
Usually, the condition develops to the point of being noticeable in childhood or the teen years; but in rare cases, it could potentially go unnoticed for decades, and hit hard later in life. It affects the spinal cord and peripheral nerves, causing them to degenerate and shrink. It also degenerates the cerebellum. It causes loss of muscle control and loss of sensory function and sometimes heart problems and diabetes. The first sign of FA is the loss of steady gait (ataxia), which will continue to get worse throughout time. It also can affect one’s speech, vision, hearing, sense of feeling in the limbs with no reflexes, and may cause overall muscle weakness. Because of the damage to the cerebellum, it is common to lose a sense of balance and coordination, leading to falls. Sadly, the condition worsens quickly, and without a cure, most people with the condition will end up in a wheelchair within 10-15 years of onset. The median age of death associated with FA is 37.5 years, caused mainly by developed symptoms such as heart disease.Friedreich’s ataxia (FA) is a condition that slowly impairs a person’s ability to walk and execute fine motor skills. It is a recessive genetic condition and is inherited when both parents contribute a defective FXN (“frataxin”) gene. It is fairly common to be a gene carrier (carrying only one FXN gene), but contracting the disease is incredibly rare, affecting only about 1 in 25,000 people in the United States.
Treatment for the condition usually includes physical therapy and speech therapy and the required use of mobility devices like braces and wheelchairs. There are also many treatments for conditions caused by the disease, such as pacemakers for heart diseases, back braces for scoliosis, speciality footwear, or surgery for high arches and hammertoe. Currently there is no medication or cure for the condition itself, and the only control a doctor can provide is monitoring subsequent symptoms and treating them as they come.
While the outcome seems grim, many people with FA live happy and productive lives. Many find themselves capable of doing regular work, getting married, and having children of their own. Even though the medium age for mortality in people with the condition is below 40, many FA patients live well past that, even into their senior years. It is important to keep up with a doctor’s care and to become informed on the condition.