Sofia De la Garza, advocate and mother of a patient with Vascular Ehlers-Danlos syndrome (VEDS), discusses her diagnosis as well as her work in advocacy.
VEDS is an inherited connective tissue disorder that is caused by defects in collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin, easy bruising, characteristic facial appearance, and fragile arteries, muscles and internal organs. VEDS is usually caused by a change in the COL3A1 gene. Rarely, it may be caused by a genetic change in the COL1A1 gene.
Sofia Maria, Ms. De la Garza’s daughter, received her diagnosis of VEDS at just 1 years old after noticing excessive bruising starting at 5 months old. While this short diagnostic journey is atypical, Ms. De la Garza explains how important it was to have doctors that actually listened to her concerns as a mother. She notes this as the most frustrating part of being a caregiver to a patient of a rare disease, how often doctors do not want to listen when she tells them about her daughter’s condition.
Following Sofia Maria’s diagnosis, Ms. De la Garza reached out to support groups where she was introduced to The Marfan Foundation. The organization focuses on improving the lives of patients with genetic aortic and vascular conditions, providing education, community, and hope. To this day, Ms. De la Garza is passionate about her advocacy in spreading the word about VEDS and helping to fundraise for further research.
To learn more about rare vascular conditions, visit https://checkrare.com/diseases/heart-diseases/
