"Where's your thumb, KK?"
"Where's Daddy's nose?"
Everyone in the room sees dramatic improvement in 2-year-old Acacia after her year on growth hormone therapy.
Acacia was born with 18q minus syndrome, a condition in which a block of genes is missing from the "q" region of chromosome 18. One of these genes is vital to a process of brain maturation, called "myelination," that enables the functions of critical thinking to develop.
Hard work by a couple with an 18q minus child and an innovative research program have made San Antonio the hub for information and care for children such as Acacia.
Her specialists in Seattle knew about the Chromosome 18 Registry and Research Society, a San Antonio-based registry of parents, physicians and researchers. The registry was started five years ago by Jannine and John Cody, PhD, whose 10-year-old daughter, Elizabeth, has the 18q minus syndrome, and by Sid Atkinson, MD, their daughter's neuorologist.
"Jannine has done a good job of getting the word out," said Acacia's mother, Suchada MacDonald. "The doctors said it was very unusual that one chromosome had a special group devoted to it, that we were very lucky."
Jannine Cody is completing her doctorate in genetics at the Health Science Center. "It's very unique to have someone with her background running the registry," said Brian MacDonald, Acacia's father. "You see newsletters from other registries that talk about the kids, but it's more of a support group. We were desperate for reliable medical information on how Acacia would do, what was in store for her, what we should be checking."
Acacia was born three weeks prematurely, weak and slightly underweight. "We had no idea; it took us by surprise," Brian MacDonald said. "The doctor asked if our first baby was like Acacia. It took a few hours for it to sink in that something was wrong. She looked pretty healthy to us but wasn't moving quite as much as a normal child."
Pediatricians thought they spotted features that might indicate Down's syndrome. "We had to wait three weeks to find out if anything was wrong, certainly the longest three weeks of our lives," Brian MacDonald said.
The physicians came back with the diagnosis — the little known 18q minus syndrome — and furnished them with medical literature. "The babies were described as being in a 'persistent vegetative state,'" he said. "We said, 'Wait, this isn't our baby.' But then we found there is wide variance in the syndrome and it was not well documented."
One of Acacia's physical problems immediately manifested itself. "She was having a terrible problem with feeding, with reflux, and we ordered an additional set of tests based on what we read in Jannine's newsletter," Brian MacDonald said. "We found out Acacia had a hiatal hernia. After having that repaired, she has really prospered. That's an example of one little thing that, reading from the newsletter, greatly helped us."
At 13 months of age, Acacia began receiving daily injections of growth hormone. She is a participant in a research study to determine whether growth hormone will improve the mental abilities of children affected by 18q minus syndrome.
"We've definitely seen her progress," Suchada MacDonald said. "The key is for her to keep on going."
Acacia attends a preschool for children with disabilities. Her father said the progress is easy to see when Acacia is with the other children.
"At the beginning, she came in and we said, 'Gosh, look at all these kids - a lot are in pretty bad shape but some are doing so much better than Acacia.' Then, a year after starting the therapy, she's the star of the whole place. It's not even the right place for her anymore," her father said.
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