Metabolic Disorders Treatment in India

Emily Jones, a 28-year-old elementary school...

Emily Jones, a 28-year-old elementary school teacher, had always been energetic and active. Over the past year, she began experiencing debilitating fatigue, muscle weakness, and frequent headaches. Despite eating regularly, she often felt dizzy and lightheaded between meals. Her primary care physician noted that her blood sugar levels were frequently low (hypoglycemic) but couldn't determine the cause. After a referral to an endocrinologist, Dr. Chen, a detailed history revealed episodes of confusion during prolonged exercise. Dr. Chen suspected a glycogen storage disease, a metabolic disorder affecting energy release. She recommended a controlled fasting test and genetic testing. During the monitored 12-hour fast in the hospital, Emily's blood glucose dropped dangerously low, confirming the body's inability to maintain normal sugar levels. Genetic testing identified McArdle disease (GSD Type V). The treatment involved a complete dietary overhaul with a nutritionist, focusing on a high-protein diet and frequent, complex carbohydrate snacks. Emily learned to 'warm up' her muscles with specific exercises before activity. Post-diagnosis, while managing a chronic condition, Emily regained control. Her energy stabilized, the dizzy spells ceased, and she adapted her teaching style to include more seated activities. Emotionally, she moved from frustration and fear of the unknown to empowerment and acceptance. She now advocates for body awareness with her students and has found a supportive online community for rare metabolic disorders.