Freidreich's ataxia is a rare genetic disease that affects muscular coordination, strength, and heart function. Symptoms begin between ages 5 to 18 and include losing coordination in the legs and arms, fatigue, curvature of the spine, and heart or vision problems. The disease is caused by mutations in the FXN gene and prevents cells from producing enough energy, particularly in nerve cells. There is currently no cure for Freidreich's ataxia, but researchers are investigating over 20 approaches to treat the condition and its symptoms.
2. Introduction
After leading an investment firm near Chicago, Leslie (Les) Goldstein is with a new
Broker Dealer, Arete Wealth Management. Outside of his work as a financial
fiduciary, Les takes on charitable projects, such as fundraising for two family
members in wheelchairs who have Freidreich’s ataxia (FA). FA is a rare disease,
with symptoms beginning from ages 5 to 18, that inhibits many types of muscular
functioning and brings on other complications.
3. About one American in 50,000 has FA. Symptoms range from losing coordination legs
and arms and lack of energy to severe heart conditions and diabetes requiring insulin.
Patients also may develop curvature of the spine, impaired hearing and vision, and slurred
speech. However, the disease leaves mental capacity unaffected.
4. The disease is genetic, caused by abnormal or mutated copies of the FXN gene,
which hampers the essential energy production of cells, particularly nerve cells. A
child only develops FA if both parents have this genetic defect. Currently, FA has
no cure; care is limited to managing symptoms. However, researchers supported
by the nonprofit Freidreich’s Ataxia Research Alliance are pursuing some 20
avenues of inquiry.