Friedrich’s Ataxia (FA) is a rare genetic disease that affects and damages the neurological system and causes problems with coordination and balance. Ataxia can affect the eyes, speech, fingers, limbs, and the whole body.
It is not considered fatal but it does progressively affect the body and can eventually affect the heart and lungs. (It is named after Nikolaus Friedrich who first diagnosed and described it.
It is the first kind of inherited ataxia that was differentiated from other kinds of ataxia.) People with FA will sooner or later need the help of a wheelchair or walker as they will not be able to walk without support. FA strikes men and women equally.
FA becomes apparent in the early teen years, though the age can vary and has been known to be diagnosed in infants of two and adults of 25. The symptoms include a problem with balance, slurred and difficult speech, and weakened coordination of the limbs.
After a while, those suffering from FA will see their symptoms getting worse. They will be unable to locate their hands or feet in space with a loss of muscle bulk.
The weakness will increase and their coordination and speech will be much poorer. The spine curves and the feet become highly arched. Some symptoms of heart trouble such as irregular heartbeat and enlargement of the heart may crop up in patients with FA, which can range from mild to severe.
Hearing loss is common as is loss of color vision with erratic eye movements. Incontinence is likely to affect the majority of FA patients. Some develop hypothyroidism or diabetes.
FA patients need a thorough neurological examination and tests such as CT or MRI to evaluate the cerebellum and spinal cord. Eyes, ears, bones, heart, blood sugar, thyroid are all tested for various conditions. If the disease is advanced then the speech may be evaluated, while an urologist may also be called in for consultation.
The genetic pattern for FA is that two of the non-functioning genes need to be present for the disease to strike and a person can be a carrier without being affected by it.
As FA is a genetic disorder, once it is diagnosed, the family should go in for genetic counseling. They can find out if other children may be affected or whether they will be the carriers of the gene. Questions about developing technologies for FA testing can also be answered by a genetic counselor.
Researchers estimate that one out of every 100 people carry the FA gene but are unaware of it. If your family has been diagnosed with FA arm yourself with knowledge and be informative on the subject. Your familiarity with the disease could help doctors and other families.
If you have FA, work with therapists and doctors to lead a fulfilling life. There may be obstacles in your path but you can learn to overcome them and make the best of your abilities and talents. Don’t be handicapped by your disease. Arm yourself with knowledge and the best that medical technology can give you and don’t limit yourself in what you can do.