Who We Are
Our mission is to bring together researchers, families and resources to find a cure for SRD5A3.
This initiative began as a personal journey for Vijay Sappani when his daughter Ela was diagnosed with SRD5A3, a rare Congenital Disorder of Glycosylation (CDG). With a background in pharmacy, Vijay knew well enough that Cure SRD5A3 was not going to be a one-man endeavour and he began connecting with other SRD5A3 families.
Symptoms
- Reduced muscle tone as early as the first 6 months of life.
- Eye problems;
- Impaired vision.
- Nystagmus of the eye, defined as the rapid rhythmic (involuntary) movement of the eyes.
- Eyes lie deep within the patient’s sockets, with a greater-than normal space in between them, and
- although less frequent, cataract formation and increased eyeball pressure.
