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wrangle the mystery and lasso a cure

“Ever since she was a baby I was concerned about her small size,” said Rachelle Gardette of her 10-year-old daughter, Bella. “But I was told she was just petite.”

Bella’s weight and length were within normal ranges at birth, but at age 2 she weighed just 15 pounds. (Most 2-year-olds weigh twice that amount.) By age 5, Bella ranked below the third percentile for growth, even with a dad nearly 6 feet tall and a 5-foot-8-inch mom.

When Bella reached school-age, she experienced episodes of losing her ability to coordinate movements and articulate words, sending her family from Riverbank, a town northwest of Modesto, to multiple doctors on a quest for answers.

More than two years passed with no diagnosis, even after an inpatient stay at another children’s hospital when Bella was 7.

“We kept switching doctors to find one who could help us,” said Rachelle, who eventually received a referral to Children’s Hospital.

Bella visited the Modesto Pediatric Subspecialty Center, where both neurological and cardiac causes were ruled out. Next, the Gardettes traveled to the Hospital’s Madera campus, where a pediatric endocrinologist determined Bella’s small stature was not rooted in her endocrine system.

Their quest for the cause concluded with Dr. Natalie Hauser, clinical geneticist, who said, “One of the things so rewarding about my job is meeting parents who have been searching so long for an answer and we’re able to help them with a diagnosis.”

Dr. Hauser diagnosed Bella with DiGeorge syndrome, a rare chromosomal disorder. “Once we got that result, it all clicked,” she said. “The other physicians probably missed it because of her atypical symptoms. Bella’s condition could be confusing because she didn’t have the heart defect so common with DiGeorge syndrome. So we had to think around that one big clue, which made the diagnosis take a little bit longer.”

Since 69 percent of DiGeorge syndrome patients have palatal abnormalities and Bella had hypernasal speech, she also visited the otolaryngology and plastic surgery practices, where pediatric surgeons identified and repaired structural malformations to improve her speech.

The final treatment phase returned Bella to the endocrinology practice for a growth hormone. “Bella weighs 55 pounds!” exclaimed Rachelle. “She’s now on the growth chart. I was so happy to see that little dot sitting on the line.” Bella is still petite, but her accomplishments are huge.

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