Publisher's Synopsis
Barth Syndrome (BTHS) is a rare and complex genetic disorder that challenges those it touches, yet it is also a story of resilience, innovation, and hope. The Barth Syndrome Sourcebook is an essential resource for patients, families, and caregivers navigating life with this condition.
This comprehensive guide demystifies the medical aspects of BTHS, covering everything from diagnosis and treatment to emerging therapies like gene therapy and Elamipretide. It also delves into the personal side of the journey, sharing inspiring patient stories of perseverance and triumph.
Inside, you'll find:
- Clear explanations of symptoms, including cardiomyopathy, neutropenia, and muscle weakness.
- Practical strategies for managing daily life, from school and social activities to emotional well-being.
- Resources for genetic counseling, support groups, and mental health services.
- Updates on cutting-edge research and potential cures on the horizon.
- Real-life accounts from families who have transformed challenges into strength.