Tugging at her mother's sleeve, Keri Weber uttered a sound indicating that she wanted her mother to tie the string of her doll's bonnet.
Every once in awhile, the diminutive child would say something understandable, but most of the time her words tumbled out garbled and incomprehensible.
The Claremore girl, who turns 6 on Wednesday, is one of fewer than 200 people worldwide who is known to have a rare genetic disorder known as Dubowitz syndrome.
"She enjoys life even though she has these barriers," Terri Weber said. "She has no problem going up to people and trying to talk to them. She knows no strangers."
Weber knew at her daughter's birth that something was different about her youngest child. Keri weighed only 5 pounds, 2 ounces at birth compared to her brother and sister, who each weighed about 9 pounds at birth.
By age 2, Keri could say only a few words such as "Mom," "Dad" and "Ho Ho," her word for Santa.
Initially, Keri was diagnosed with Silver-Russell dwarfism, a disorder that also is characterized by low-birth weight. The family researched the disorder, learned all it could, and then last year Keri's diagnosis was changed to Dubowitz syndrome.
First described in 1965 by Victor Dubowitz in the Journal of Medical of Genetics, the syndrome's features include shortness, a small head, hyperactivity and mild to moderate mental retardation. Other characteristics include a high nasal bridge, underdevelopment of the bony ridges above the eyes, widely spaced eyes and droopy eyelids. Affected children typically have patchy areas of itchy red skin, or eczema.
"The patients are quite small at birth, and they don't grow too well after birth," said Dr. Burhan Say, director of the H.A. Chapman Institute of Medical Genetics, which is part of the Hillcrest HealthCare System. "Usually they stay around 4 feet."
In nearly 50 years, Say has seen only two or three Dubowitz cases, including that of Keri.
"They need more attention in school than the other children. Many times they are pretty hyperactive kids, so it is hard to pin them down," Say said. "You have to have patience."
Keri uses a lot of body language and gestures to communicate with relatives, her speech therapist, Jeannie Gilbreath, said. If Keri wants something, she often just goes and gets it.
Keri scrambled up on the kitchen counter and reached toward the window sill for her bottle of Flintstone vitamins, prompting her mother to retrieve her daughter from her precarious perch.
"She is very independent and will do it on her own. She has to act it out a lot to us," Weber said.
Keri, who has just started learning sign language, speaks a lot of single words and some simple phrases, such as "I can do it" or "Help me," Gilbreath said.
Keri has no problem understanding other people. Her own words sometimes come more easily and make sense when she doesn't concentrate so hard, Gilbreath said.
The fact that people don't understand her doesn't deter the girl from approaching other children and trying to get them to play with her.
Weber likens her daughter's bubbly, friendly demeanor to that of a "cocktail personality."
"Keri is always happy. She will have her tantrums but she gets over it real quick."
Often, like a game of charades, the family must guess what Keri is trying to say.
Communicating has improved in the last few months now that the family has two new computers, including one with a software program loaned to the family by a sales representative.
The computer speaks for Keri by conveying messages to those near her. Using a computer mouse to maneuver across the computer screen, she can click on images depicting a bowl of cereal or cookies, and the computer tells listeners what she would like to eat. She can select other pictures or symbols, and the computer program will communicate the days of the week, the names of her friends and even tell a visitor about her birthday Wednesday.
Through the computer, Keri has demonstrated that she knows a lot more than her family thought she did, Weber said.
