For the week of October 14 thru October 20, 1998
Local mom pushes for awareness of rare Rett syndrome
By AMY SPINDLER
Anne Marie shares a moment with her mother, Heather Gonzolas. (Express photos by Charmaine McCann )
Although Anne Marie Francis lives in a seven-year-olds body, with long curly hair and bright aqua eyes, she must be cared for as an infant. Anne Marie has Rett syndrome.
October is awareness month for Rett syndrome, a rare and terminal disease that almost exclusively affects girls, halting brain development between the ages of 6 to 18 months, according to the International Rett syndrome Association, an organization of parents and professionals who support research about and awareness of the disease.
Anne Marie cannot walk or talk and shows other common signs of Retts that include wringing her hands together constantly and grinding her teeth. She is also affected with severe scoliosis, osteoporosis, respiratory problems and epilepsy, all correlated to Retts.
"Finding out that Annie had Retts was the scariest thing thats happened to me in my life," said her mother, Heather Gonzolas, who also describes her daughter as her saving grace and the light of her life.
"Annie is like a little book-you can read her face and know exactly what she wants," Gonzolas said. "Its the same with an infant except weve had seven years to learn her."
Rett syndrome is a fairly unknown disease; it was recognized in 1966, and gained world-wide attention in 1983.
There is no known cause, but evidence shows that genetics plays a role. Diagnosis is made based on subtle signs, because there is no biological marker for the disease, according to the Rett syndrome association.
Gonzolas described Anne Marie as a healthy baby who, at 15 months, stopped walking, stopped talking and stopped eating.
"Physically she looked like a healthy child, like nothing was wrong. But, she just laid there," said Gonzolas, who was accused of being an over-anxious mother when she first consulted a pediatrician.
Retts is characterized by four stages, the first stage is an obvious halt in motor development, which can happen over a varying period of time. For Anne Marie, it was immediate.
As in most cases, Anne Marie was first diagnosed with cerebral palsy and possible autism. But after reviewing her symptoms, which included teeth grinding, hand wringing and no motor development, doctors diagnosed her with Retts, and predicted a life span of four years (although it is not uncommon for some Rett patients to live into adulthood).
"When I first found out I went into mourning," said Gonzolas. "I was very angry. I was very upset. You know how you feel if you can isolate yourself from doctors and everyone else it may just go away? Thats how I felt."
Realizing that Retts was not going away, Gonzolas began to research the disease.
Stage two of Retts is characterized by the constant hand wringing, a dramatic loss of social interaction and communicative skills and disturbed sleep.
Stage three and four include increased and intense eye contact, known as the "Mona Lisa look," and accompanying conditions, such as seizures or scoliosis, according to the Rett syndrome association.
"Shell wake up during the night a lot, and she just laughs or talks to herself," said Gonzolas.
The Gonzolas experimented with leaving the lights off in her room, but she kept up the cheery talk so they leave them on now.
Anne Maries room is soothing pastel blue with colored Christmas lights outlining the ceiling and glass snow globes with friendly characters smiling from within the glass.
"She really likes the lights, anything to mentally stimulate her," Gonzolas said.
Anne Marie spends her days in fourth grade at Hailey Elementary where she undergoes physical therapy including horseback riding, which improves the strength and mobility of her hips. She enjoys being read to and loves chocolate.
"Shes a happy and intelligent child," said Gonzolas.
Gonzolas thinks it is important for people to be informed about Retts so it becomes easier to diagnose, easier to treat and so strides are made in research of the disease.
"It seems we always learn something new--like girls are more susceptible to osteoporosis, but we never know why," she said.
There are no answers or cures for Retts; physical therapy and good care and nutrition are the only treatments for Anne Marie.
"There are no treatments as far as the neuro-degeneration, but we keep a close eye on her," said Dr. Marel Hanks of the Wood River Medical Center, who treats Anne Marie. "We want to make sure she doesnt have a urinary tract infection, because enough of those may knock out her kidneys, and we watch for any respiratory problems to ward off pneumonia."
Gonzolas said, the way she sees it, she doesnt face too many challenges because of the support of her family nearby and the degree to which she cherishes her daughter.
"My husband and I were talking about cloning, and he asked me if Anne Marie passed on, and I had the option to take out the Retts gene and have a new Anne Marie, would I?" she said. "Never would I do that, never."
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