A Little About Amazingly Ava
Ava is a smiley 2.5-year-old little girl who was born in June 2019. Her father Anthony is a United States Marine Corps veteran, and her mother Lauren is a licensed marriage and family therapist. She was diagnosed with an extremely rare genetic mutation called COL4A1, or Gould Syndrome, which causes strokes in utero– there are fewer than approximately 300-400 known cases worldwide. Ava has also since been diagnosed with Microcephaly, Cerebral Palsy, Focal Epilepsy, Gastroparesis, feeding difficulties, farsightedness and global developmental delays as a result of Gould Syndrome. Gould Syndrome affects the collagen making up various organs in the body, including the brain, blood vessels, eyes, kidney, lungs, heart and liver. Ava has already done so many things we were told she would likely never do! She loves walking, dancing, blankets, the color blue, water in general, being outside, strawberry, chocolate, fruit, spaghetti, man n cheese, trying new foods, babies, ALL people, her furry friends, Care Bears, toy vacuum cleaners, bubbles, communicating by various methods (signing, pointing, laughing, talking) and so much more! We first began our journey when Ava's pediatrician noticed her right pupil was larger than the left, then again when Ava's head wasn't growing at the proper rate and not at all on the charts. Consequently, Ava saw a neurologist, had an MRI and was officially diagnosed with Microcephaly. Since then, in order to be properly diagnosed and cared for she has seen pediatrics, neurology, neurosurgery, infectious diseases, cardiology, nephrology, pulmonology, genetics, developmental medicine, rehab medicine,ophthalmology, audiology, gastroenterology, allergy, nutrition, prosthetics, and more. She currently has weekly physical therapy, occupational therapy, feeding therapy, speech therapy and play therapy (early childhood education). It is our hope that Ava can serve as a pillar of hope, motivation and inspiration for all!