Researching Rett

BR-based International Rett Syndrome Foundation fundraiser set

ELLYN COUVILLION
Advocate staff writer

Linda Favaloro, a mother of six, recognized early on when one of her children seemed to be having unusual difficulties.
“She was my fifth child, so I was recognizing symptoms even before a pediatrician” did, said Favaloro of her daughter, Lauren, now 33.

At age 5, Lauren became one of the first 10 children in the U.S. diagnosed with a disorder called Rett syndrome.
The syndrome is a developmental disorder that occurs almost exclusively in girls, according to the National Institutes of Health.
An infant with Rett syndrome usually has normal development for the first six to 18 months, then begins to regress.
Loss of purposeful hand movements, repetitive hand motions, severe language development and loss of social engagement are some of the symptoms, according to the institute.

This past summer, Linda Favaloro, of Mandeville, spoke to researchers at the World Congress for Rett Syndrome in New Orleans, and the researchers got to meet her daughter.

Linda Favaloro comes close to tears when she describes how it was a happy occasion for Lauren.
At a special dinner the family was invited to with the researchers, Lauren, the only person there with Rett syndrome “put her head on the shoulder of the lady who discovered the gene (for Rett syndrome), looked up at her and smiled,” Linda Favaloro said.
It was as if Lauren had found a special friend, her mother said.

The Favaloro family will be on hand Saturday when the International Rett Syndrome Foundation, based in Baton Rouge, holds its second annual benefit to raise funds for Rett syndrome research and related autism spectrum disorders.

“Black Out Rett Syndrome,” featuring celebrity host country music singer Clint Black, will be held that evening beginning at 7 at the Celtic Media Centre. Black lost a niece to Rett syndrome.

“We must fund crucial new research with the potential to reverse symptoms of Rett syndrome and improve many other related disorders,” said Kathryn Shanen Kissam, of Baton Rouge, chairwoman of the board for the International Rett Syndrome Foundation.
Linda and Wes Favaloro said they were baffled as their fifth child Lauren began having unusual symptoms that nobody could explain.
“She would either be extremely lethargic — very, very good, sitting in place and not needing a lot of stimulation — or out-of-control crying and could not be soothed in any way,” Linda Favaloro said.

“At the beginning, she sat up and rolled over and crawled,” Favaloro said. “It got to the point where she started to regress.
“I never heard any explanations” from doctors, Favaloro said.
Favaloro was pregnant with her sixth child, when daughter Lauren began to regress.
“When she was about 18 months old, I took her to a pediatrician. He didn’t really think there was anything to be concerned about,” she said.
But, she said, he recommended she bring her daughter to a new LSU-operated, special-needs preschool in New Orleans, which Favaloro did three days a week.
“At that point, she was losing the use of her hands. She stopped feeding herself, stopped turning the pages in her little books,” Favaloro said.
Still, a diagnosis eluded the family.

Her daughter’s teacher said that Lauren was just putting some skills aside to learn new ones.
The little girl was misdiagnosed at one point, and her parents were told she would die before age 10, Linda Favaloro said.
Finally, a pediatric neurologist in New Orleans told Favaloro that she had read about something called Rett syndrome and that the doctor who had identified it was coming from Austria to Johns Hopkins Hospital in Baltimore.
The Favaloro family immediately made plans to be there.

“It was the first and only time Lauren’s been on a plane,” said Linda Favaloro.“There were about 25 people there from all over the U.S. They had a clinic for him to see everyone,” she said.

Dr. Andreas Rett, a pediatrician, was then in his late 70s or early 80s, Favaloro estimates.
“He was the kindest, kindest, gentlest man,” she said.
“He sat on the (meeting room) floor and fed these children” when it was mealtime, she said.

Favaloro said that after they had a diagnosis for Lauren, “I didn’t feel as isolated in the world. I made friends and had people I could call.”
“There was really no treatment ... but (it helped) having other people that you knew that you could talk to when you were having a mental breakdown ...” Favaloro said with a quiet laugh.

The Favaloro family has been able to meet several of the nearly 100 families affected by Rett in Louisiana, including one who lives in their area and also has a daughter in her 30s with the condition.
Favaloro said her five other children were wonderful help. Lauren’s sisters would help her get dressed and do her hair, and her brother “loved to make her laugh,” their mother said.

Lauren doesn’t speak or have any self-help skills but walks and “has wonderful eye contact. She speaks to us with her eyes,” Linda Favaloro said.
The symptoms and severity of Rett syndrome can vary widely from person to person, depending on characteristics of the particular gene mutation, according to the International Rett Syndrome Foundation.

Linda Favaloro has learned that 90 percent of the children with the mutation type that her daughter has don’t walk, as Lauren does. Lauren likes to be outdoors and “loves to be in the kitchen watching dad cook,” she said. “My husband takes her everywhere; he takes her to play golf,” she said.
Lauren sometimes wears a brace to protect her hands; she’s very strong and can hurt herself with the hand-wringing that characterizes the condition, Linda Favaloro said.
Lauren was in self-contained special education classrooms in the public schools through age 21, when she received a certificate of completion from her high school, Fontainebleau High School in Mandeville. The special education program provided socialization for Lauren, some participation in activities such as preparing a meal — although her limited hand motion was an obstacle — and field trips into the community, to the grocery store, for instance.

When Lauren was little, her behavior would draw stares from other people, Linda said. “When she was in high school, we seldom went anywhere where people didn’t recognize Lauren and say hello,” Favaloro said.

“Those are the kinds of things you can’t measure,” she said.

Lauren now goes on weekdays to a St. Tammany Parish-run day program, her mother said.The family has help for Lauren at home through the Medicaid program.
In many ways, caring for Lauren is like caring for a toddler, said Linda Favaloro, who is 66. “It’s the lifestyle of a young mother. It does get hard.”

Linda and her husband hope that, one day, there will be treatments available that can help improve Lauren’s life.
“We are quite hopeful .... I’m OK if that’s the way she’s going to be, but I want her to be the most she can be,” Linda Favaloro said.

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