Christian Maugee and Shandra Trantham met as undergraduates at the University of South Florida (USF) and immediately clicked. Their first chance meeting was in the disability office. It was here that Christian, now 22 years old, and Shandra, now 24 years old, discovered that they both had a rare condition called Friedreich ataxia (FA). After finishing their undergraduate career, Christian and Shandra both decided to pursue further education to not just learn about FA, but potentially contribute to a future cure.
Now, the pair are studying at the University of Florida (UF), shares Health News Florida. Shandra has been studying genomics and genetics. She is fascinated by the way the body works and by the intricacies and complexities of genetics. Her advisor believes that her hard work, dedication, and motivation will help Shandra go far within this field. Christian, who studies within the same program, specifically focuses on neurological disorders. After all, it was his FA which drove him to this research!
Unfortunately, due to the coronavirus pandemic, it has been more difficult getting a spot for laboratory research. But neither Shandra or Christian are too concerned. In the future, they hope to get into a lab to commit more hands-on and actionable research into their condition. Further, through this, the pair hope to be able to find a cure.
About Friedreich Ataxia (FA)
FXN gene mutations cause Friedreich ataxia, a rare genetic neurodegenerative disorder; you may also see the condition referred to as “Friedreich’s ataxia.” Normally, FXN encodes for the production of fraxatin, a protein that plays a role in mitochondrial function and energy. However, the gene mutations cause low fraxatin production, leading to cellular degeneration. Typically, symptoms begin manifesting between ages 5-15. Some patients may experience symptoms after 25 years old if they have late-onset Friedreich ataxia or after 40 years old with very late-onset. As the condition progresses, some individuals may need mobility assistance. For example, both Shandra and Christian use walkers. Symptoms can include:
- Scoliosis
- Slurred speech
- Difficulty swallowing
- Ataxia (impaired balance or coordination)
- Diabetes
- Chest pain
- Vision impairments
- Shortness of breath and/or difficulty breathing
- Fatigue
- Cardiac arrhythmia
- Foot abnormalities
- Cardiomyopathy
