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Invisible Battle: Woman's Fight Against Rare Disease
28 Dec
Summary
- Friedreich's ataxia causes loss of muscle control and coordination.
- The disease affects about 5,000 people in the U.S.
- A new drug offers hope but is not a cure for FA.
Tiffany Fransen, now 27, lives with Friedreich's ataxia (FA), a rare neurodegenerative disease that impairs muscle control and coordination. Diagnosed five years ago, Tiffany experiences symptoms like staggering and slurred speech, often leading to confusion and unwanted questions, such as assumptions about intoxication.
FA results from a genetic mutation affecting energy production in nerve and muscle cells, leading to progressive weakness and coordination issues. The condition affects approximately 5,000 individuals in the U.S., with symptoms typically appearing in childhood, though later onset is also common. Tiffany's journey to diagnosis took six years, highlighting the rarity and limited awareness of FA among medical professionals.
Life with FA necessitates significant adjustments for Tiffany and her family, including her husband Alex, who adapted his career to support her. While a recently approved medication, Skyclarys, can slow disease progression, it is not a cure. Tiffany remains determined to live a full life, emphasizing her capabilities and fulfillment despite the challenges.
