Chavy and her family were our last recipients of the 2020 Holiday Giveaway, submitted by her mom Bianca.

Chavy was born on September 11th of 2017. Her delivery went smooth and by the next day, we were able to take her home. She was an extremely calm baby and slept most of the day and didn’t eat very much at all and had a weird smell (we thought it might be milk dripping in her neck and getting stinky), but we didn’t seem to notice anything being wrong with her. We took her to her two day check up at the doctor and they dismissed my comments of her lethargy and little appetite, so they sent us home. On our way home they called us and asked us to come straight back to the clinic because they had just received her newborn screening results and something was wrong.

They ended up sending us straight to the hospital where they had a bed and a metabolic specialist was waiting for us. Everything happened so fast and all of a sudden she fell asleep and didn’t wake up for two whole days, she was going through a metabolic crisis. They gave her IV’s and medicines in the mean time to flush her body of all the ammonia that had built up within her two short days of life. They had arterial IV’s in her legs, IV’s in each arm and they splinted her arms and legs because they said once she woke up, she kept trying to rip them out.

Her nurses couldn’t explain to me her diagnosis or prognosis because they had never heard of her disease and were just as confused as I was. In the midst of everything going on with Chavy, her older sister Mia who was 7, couldn’t wait to bring her back home and was struggling to understand why her sister was so sick. Eventually her metabolic specialist explained that she was diagnosed with a metabolic disorder called Isovaleric Acidemia. IVA is a rare disorder in which the body can’t properly break down certain parts of protein found in foods. That causes a buildup of toxic substances which can lead to a metabolic crisis and hospital visits. She is overseen by a dietician who helps keep Chavy on a low protein diet balanced with powdered formula that gives her the vitamins and nutrients that she would otherwise get from natural protein.

She takes glycine and carnitine daily to break down the unmetabolized protein in her body. Chavy has monthly blood draws to monitor her leucine levels and to make sure her diet is working for her. She has a metabolic specialist, dietician, a nurse, and a social worker who have all been with her since she was diagnosed and have become our second family.
She had had a couple of metabolic crises which resulted in hospital stays, but through these crises we learn what signs to look for in the future.
Chavy is now thriving, she is growing and developing much better than her doctors anticipated, she is a lively character with the funniest personality and learning more about her special
disease every day. Her older sister learns with her and makes sure that she advocates for Chavy when Chavy needs it, and mom and dad do all we can to make sure that she doesn’t ever let this disorder stop her from doing great things in life.

-Bianca

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