Sofia Vera Phan

Sofia Vera, 7lb 11oz,  was born full-term in September of 2015. From the beginning, Sofia had a lot of trouble breastfeeding and was eating from the bottle very, very slowly. When Sofia was 4 months old, we realized she still could not pick up her head. We brought her to the doctor where she was diagnosed with a respiratory infection (RSV).

 

While Sofia was in the hospital for 12 days, she underwent her first MRI. The MRI results showed nothing unusual. When Sofia was 6 months old, we consulted a neurologist at UCSF and did a spinal fluid test. These results also showed nothing unusual. At 11 months old, Sofia received 3 separate EEGs, to check for seizure activity. Two of the three EEGs were clear and the third one showed her brain activity with spikes. 

 

Our next appointment, at the Genetics Department at Stanford, took 6 months to get an available appointment. During this time, Sofia was 13 months old and she stopped drinking milk and eating purees because her oral muscles were too weak. We were directed to have Sofia undergo surgery for a G-tube, which we credit for saving her life!

 

Once we got through our genetic appointment at Stanford, we had a genetic test done that was negative. Losing all the hope, we decided on the Whole Exome Sequencing test and it finally showed Sofia`s GRIN1 gene mutation. 

 

Sofia is non-verbal, struggles with head control, CVI, severe hypotonia, can taste little bites of soft food for pleasure and shows no sign of seizures. Sofia loves classic music, books, listening to her grandma tell her tall-tale stories, and laughing.  Sofia is our little angel!