2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Real-World Adult PKU Patient Cases: Treatment and Clinical Management

Real-World Adult PKU Patient Cases: Treatment and Clinical Management

Video Transcription

Video Summary

Fanny Zambrano, a 40-year-old woman with Morquio syndrome, shares her experiences growing up with the condition. Diagnosed between the ages of 5 and 7, Fanny underwent surgeries during the summer to recover before the school year. She faced challenges as the only person with Morquio in her community and struggled with being different from other kids. Despite these difficulties, she pursued a college education and now works behind a desk. Fanny started taking the medication Vimazim in 2014, which made a positive difference in her life. She manages her condition by seeing various specialists, engaging in physical therapy, and eating healthy. Fanny also mentions her commitment to work and her involvement in church activities. She expresses her gratitude for finding support from others with Morquio and the NPS Society. Fanny encourages others by sharing her story and hopes to give back hope and support to the community. For more information, visit FEMA.gov.

Asset Subtitle

BioMarin Pharmaceuticals

Keywords

Fanny Zambrano

Morquio syndrome

experiences

medication Vimazim

support from NPS Society