Bella Gardette’s tiny frame held a big mystery. “Ever since she was a baby I was concerned about her small size,” said Rachelle Gardette of her 9-year-old daughter. “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.) When she reached 5, Bella remained under 30 pounds. Her height and weight kept her below the third percentile for growth.
With a dad nearly 6 feet tall and a mom of 5 feet 8 inches, Bella’s stature seemed odd but not alarming. However, concern heightened when she began having episodes of ataxia and dysarthria. The unexplained spells, which included losing her ability to coordinate muscular movement and articulate words, sent the 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 a Bay Area children’s hospital when Bella was 7 years old.
“We kept switching doctors to find one who could help us,” said Gardette. “Then we finally switched over to Valley Oak and met. Dr. Bolton.”
Dr. Kathryn Bolton, a pediatrician for more than 20 years, practices at Valley Oak Pediatric Associates in Modesto. “Dr. Bolton said, ‘I’m going to work with you to find out what this is, but you’re going to have to be patient as I try to rule out things,’” said Gardette. “Every time we met with Dr. Bolton she would spend about an hour with us.”
“I thought there was something we were missing,” said Dr. Bolton. “What really brought things to a head was when she had this funny spell that affected her speech. She already had some difficulty with articulation and had hypernasal speech, and I thought this is too much all in one area for there not to be an underlying cause.”
“Dr. Bolton said she wanted to refer us to a children’s hospital,” said Gardette. “She mentioned the Bay Area hospital we’d already been to and Children’s Hospital Central California. I wasn’t familiar with the one in Madera but I told Dr. Bolton we weren’t going back to the other one, and she said, ‘I’ve had really good history with Children's Hospital Central California.’”
“We’ve got a bunch of kids coming down there to Madera, and they’re doing a fine job for them,” said Dr. Bolton. “They are definitely filling a need in our community.”
Bella visited the neurology practice at the Hospital’s Modesto Pediatric Subspecialty Center where neurological causes were ruled out. “She was able to see Dr. Seetharam here in Modesto, which was great,” said Dr. Bolton. Bella’s pediatrician also sent the family to a pediatric endocrinologist at Children’s, who determined Bella’s small stature was not rooted in her endocrine system. Next the Gardettes met with Dr. Natalie Hauser, a clinical geneticist at Children’s. Dr. Hauser diagnosed Bella with DiGeorge syndrome, a rare chromosomal disorder that occurs in one of every 3,000 to 4,000 live births.
“Once we got that result, it all clicked,” said Dr. Hauser. “The Bay Area hospital 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.”
Several specialists from Children's Hospital Central California worked collaboratively on Bella’s diagnosis and treatment, including Dr. Robert Appleton, pediatric cardiologist, who gave the petite patient an echocardiogram at the Hospital’s Modesto Pediatric Subspecialty Center.
“We try to put everything together here at Children’s,” said Dr. Hauser. “We look at the whole child and try to find the one underlying condition that explains the different symptoms. Once we knew it was DiGeorge syndrome we were able to anticipate other things to look for. When Bella’s parents saw the list of symptoms and found many that fit with their daughter, it explained so much about her. They were glad when things finally came together.”
Bella did not have a cleft palate, but since 69 percent of DiGeorge syndrome patients have palatal abnormalities, Dr. Michael Dunham, medical director, otolaryngology, and Dr. Peter Witt, medical director, plastic surgery, at Children’s Hospital also became involved in Bella’s case. The pediatric specialists identified and repaired structural malformations to improve her speech.
“We’re no longer in the testing phase; we’re now in the treatment phase, which is such a great place to be,” said Gardette.
“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,” said Dr. Hauser. Bella was again referred to the endocrinology practice to begin treatment with a growth hormone.
“Right now Bella is 45 pounds, and we’re so excited!” exclaimed Gardette. “Our next benchmark is 50.” Bella is still about 15 pounds under the normal weight for her age, but with the mystery of her small stature solved, her prognosis is looking up.
Bella served as the 2012 Color The Skies Ambassador.