The Pompe Disease Content Hub Channel
Sandra, diagnosed with late-onset Pompe disease, shares her journey of resilience and determination. Despite experiencing symptoms like muscle weakness and difficulty with daily activities since her 30s, she pursued answers until receiving a correct diagnosis. Pompe disease is a rare genetic disorder that causes progressive muscle weakness and respiratory issues due to the accumulation of glycogen in cells. Through enzyme replacement therapy and supportive care, Sandra has managed her condition while continuing to live fully, pursuing her passions and education. Her story offers hope and inspiration for others facing similar challenges, emphasizing the importance of early diagnosis and community support.