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Francesca’s Story

Francesca “Cha Cha” was born at 37-1/2 weeks. I remember looking at my beautiful new baby and wondering why her ears had such a unique shape to them. She was admitted to the NICU on the day we were supposed to go home. She was showing hypotonia and feeding issues, jaundice, and she also failed her hearing test twice. She was only there for 8 days, but by far the scariest 8 days of our life at that point.

We spent the next two years in various therapies, visiting so many specialists, and trying to find out what her possible diagnosis was. She met with a geneticist when she was a few months old, but her physical symptoms were so mild they didn’t suggest CHARGE right away. Two years later, we had our official diagnosis thanks to Whole Exome Sequencing. Cha Cha is a remarkable kid, like many of her CHARGE peers. She has balance issues, bilateral sensorineural hearing loss and wears hearing aides, a small coloboma in her left eye, and some a few other diagnoses that affect her day to day life. This is her first year in a general education classroom and she has thrived! She taught herself how to read at the age of 3, took an IQ test and scored a 141, and has an extreme love for dogs. She makes us so proud every day!

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

CHARGE is such an appropriate title for this unique syndrome. These kiddos take CHARGE of everything in their lives. Francesca has CHARGED her way into life. From day one she has let us know that she is in CHARGE of everything. Nothing, NOTHING, surprises us when it comes to our daughter with CHARGE!