Ariella loves to dance. She began taking dance lessons when she was 6 and her laundry list of interests continues to grow: Baking, science projects, videogames, crafts and horseback riding are among her favorites. She also loves animals and hopes to one day become a veterinarian (although a Unicorn Whisperer did originally top the list). While these are not unusual activities or uncommon career aspirations for a second-grader, what is miraculous to her parents, Rachel and Charles, is that their daughter survived a very dire prognosis as a baby and today is an active 9-year-old with a bright future, thanks to the specialized care she has received at Connecticut Children’s.
Ariella was born with a condition known as nemaline rod myopathy, a rare muscle disorder that, in its severest forms, can be life-threatening within the first few months of life. Ariella’s symptoms included muscle weakness, breathing difficulties and swallowing dysfunction. But it was her inability to gain weight as a baby that first brought her to Connecticut Children’s at four weeks of age. Still not at birth weight, Ariella was hospitalized and her Gastroenterology team went to work on her feeding issues.
At 5 months of age, Ariella underwent a feeding tube surgery followed by a muscle biopsy; it was the muscle biopsy requested by Neurology that led to her diagnosis. When Ariella’s respiratory rate skyrocketed a few days later—and her lungs began to collapse—her parents rushed her back to Connecticut Children’s. While Ariella’s outcome was uncertain, her Pulmonary Medicine team did not give up.
“We have wanted for her, from the very beginning, to live the fullest life possible,” her father says, “and Connecticut Children’s has partnered with us on that journey.”