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Vivian’s Story

Vivian was born with the heart defect Total Anomalus Pulmonary Venus Return. Prior to Vivian’s birth we were unaware of this defect, so it was quite a shock to us when it was discovered at 6 days old. Around one year old we had an appointment with an eye doctor to address strabismus. After examining her eyes, he discovered that she had bilateral retinal colobomas. He was aware of her heart defect and recommended getting genetic testing for CHARGE Syndrome. Her testing came back with the gene mutation for CHARGE Syndrome. Vivian is pretty low on the spectrum of this syndrome and is thriving! She attends a half day preschool program 3 days a week. She receives Vision therapy, Physical Therapy, Speech therapy, and Occupational therapy. We love our Charger!!

What would you like to tell other people about CHARGE syndrome?

CHARGE Syndrome is a wide spectrum disorder and affects each child very differently. CHARGE Syndrome appears differently from one child to the next. It does not define the child but makes that child even more unique and special.

The 2023 global theme for Rare Disease Day is “Health Equity.” What does equity in health mean to you?

Health equity means that my daughter is able to receive the proper health care and support that she needs and that she deserves as an individual with CHARGE syndrome.