Living With A Rare and Invisible Disease

Isabel, Lupe, and Nick, UCD

Living a Normal Life

Isabel looks like a normal 9-year-old, she’s picky about what she eats, she enjoys school and playing with her friends. Except that she needs to be monitored more than the average 9-year-old. Her teachers are aware of her condition and they have to keep an eye on her in case she shows some odd behavior because that may be the ammonia building up in her body. “There are certain sports that I will not let her participate in because they burn too many calories and if you burn too many calories, you’re supposed to replace those with food,” explains her mom. The only sports she’s allowed to play are volleyball and swimming, and riding her bicycle of course.Isabel riding a bike UCD

At school she has an emergency plan just in case she presents symptoms of high ammonia. This has never happened, but if she shows symptoms, her teachers know to call the 911 and have instructions they need to give the paramedics when they arrive. “Last year when she was in the second grade, they called me from her school saying that she kept falling asleep. It was something that was out of the ordinary that she was falling asleep for no reason and when I took her to the hospital the doctors checked her ammonia levels and they were normal, but they did find that a sugar in her body was low, which is what caused her behavior.”

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