Neviene was born 4 weeks early by C-section. All of my dreams finally came true when I found out I was having a girl. Like her 2 older brothers, she was taken by AirBear to the NICU at Akron Children's for respiratory difficulties.
I received a call from Akron after her arrival. They said her tongue was protruding and she was being tested for Down syndrome. My heart sank and all of the questions and fears started racing through my head. After 21 days in the NICU, complete with many tests and specialists, we were sent home with a healthy baby girl whose tongue was just an extra-large one and stuck out.
At 10 months, her dad and I faced the fact that something was different. She wasn't sitting up, crawling and developmentally doing what "typical" babies do. We met with genetics and they did a microarray test. Two weeks after her first birthday we received the diagnosis. Nev has a rare diagnosis called Kleefstra syndrome. She was the second child diagnosed in Akron, joining only 300 or so worldwide.
Just like any other family, we have been through our ups and down emotionally. Being diagnosed with a rare disease is like being given a picture of a destination without directions or an address. There are no answers, no one has any real idea of the future and you're not sure where to turn.
Throughout our journey the past couple years (and over a 15-year span with all of my children), I have gained an amazing appreciation for Akron Children's. We choose to drive over an hour each way every time she has an appointment. I trust and value every single person that we have encountered.
Although this is not the life we had planned for, I am overwhelmed by how much Neviene has taught me. Our life is now an open book and instead of thinking about what the future holds we just write one page at a time.
Angela is a parent mentor for these conditions: Apnea, Developmental Delays, Hypotonia, Kleefstra syndrome, Macroglossia, Sleep Disorders, Ventricular Tachycardia.
Angela is a mentor for these care services: Cardiology, Developmental Delay, Ear Nose Throat (ENT), Eye, Feeding and Nutrition, Genetic Syndromes, Neurology, NICU, Pulmonary
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