Early Diagnosis Saves Lives: Meril and Madiha’s Fight Against Pompe Disease

- In this video, Madiha and Meril's journey with rare metabolic disorders is shared. Madiha, initially a healthy child, started experiencing severe muscle weakness and developmental delays by 6 months of age. After extensive tests, she was diagnosed with Alpha-Glucosidase Deficiency, also known as GSD Type II. With no improvement from initial treatments, her mother had to feed her through a tube for 8 months. Thanks to the free access to medicines through the Indian Charitable Access Program, Madiha’s health has improved significantly, and she is now thriving, defying early expectations.
- Meril's health challenges began in 7th grade, when she experienced muscle weakness, which led doctors to initially suspect muscular dystrophy. However, after further testing in 2010, Meril was diagnosed with Pompe disease. After starting enzyme replacement therapy (ERT), her health showed significant improvement. Today, Meril is living a normal life, thanks to early diagnosis and timely treatment.
