Episodic Ataxia Treatment in India

Sara Sharma is a 28-year-old software...

Sara Sharma is a 28-year-old software engineer who has always been known for her steady hands and meticulous attention to detail. For the past two years, she has been experiencing unpredictable episodes where her limbs become uncoordinated and shaky, lasting from minutes to hours. These 'attacks' would strike without warning, sometimes during important work presentations or while simply trying to drink her morning coffee. She had seen several doctors who initially suspected anxiety or inner ear problems. After a particularly severe episode caused her to fall at work, a new primary care physician referred her to a neurologist. The neurologist, after a detailed history and noting her description of episodes triggered by stress and sudden movement, strongly suspected Episodic Ataxia Type 2. He recommended genetic testing to confirm the diagnosis, explaining it was crucial for proper management. Sara underwent a blood draw for the genetic panel. The wait for results was agonizing, filled with fear of a progressive disease. When the results confirmed EA2, she felt a confusing mix of devastation and relief, finally, she had a name for her struggle. The diagnosis allowed her neurologist to start her on acetazolamide. Post-diagnosis, Sara's life transformed. The medication dramatically reduced the frequency and severity of her attacks. She went from feeling like her body was betraying her to regaining a sense of control. Emotionally, she moved from a place of isolation and frustration to empowerment. She connected with a patient support group and is now an advocate, helping others understand that a diagnosis, while life-altering, is the first step toward managing their condition.