A. COLLEEN DeGUZMAN | SPECIAL TO THE MONITOR
While listening to her mother discuss the struggles of raising a special-needs child, including having to give up a teaching job, 10-year-old Edie Garza of Rio Grande City said, “I’m sorry, mom. I’m sorry.”
Edie then climbed onto her mother’s lap and kissed her cheek.
The tender moment between mother and daughter occurred Wednesday, May 8, as Nubia Garza discussed her commitment to caring for her daughter Edie, who was diagnosed with Williams syndrome at 4-months-old.
Williams syndrome, sometimes referred to as WS, is a genetic condition causing a constellation of medical, neurological and behavioral impediments. The rare disorder is caused by a spontaneous chromosome abnormality that leads to a lack of elastin in the body, a protein that is essential to the elasticity of organs.
Because elastin is seminal to the working structures of the heart and lungs, the most life-threatening defects individuals with WS face are cardiovascular and pulmonary complications, which Edie knows all too well.
Children with WS are also challenged with learning disabilities and developmental delays; they are often slow to gain weight and have weak bones, and struggle in learning about numbers and abstract reasoning.
In her short life, Edie has endured eight surgeries, including two open-heart operations.
Nubia said that Edie’s battle for health has been arduous, and though the fight isn’t over, she has faith in her daughter’s resilience. And, time and time again, Edie has proved it.
“I believe in her,” said Nubia, a physician liaison at Tree of Life Hospice in McAllen. “I understand her condition and she does too, but we know that she is stronger above all else.
“I admire her because she never complains about it. She complains about math and having to do chores, but she doesn’t complain about her condition. She accepts it.”
Though the condition comes with a host of complications, people with WS often display fearless and endearing qualities, such as hypersocial personalities.
Edie demonstrated this boldness by hugging one of the editors in The Monitor newsroom during her interview this month, engaging in a conversation about SpongeBob, one of her favorite TV shows.
Helen Tager-Flusberg, developmental science program director at Boston University, led a study in 2010 that investigated the unique social traits of children with WS. The research team observed how children with the condition responded to an adult experimenter who banged their knee on a table, and to a fuzzy, animatronic toy spider.
Children with WS were more likely to show concern for the hurt stranger. They also approached the adult to rub their knee. And, in the spider experiment, they were more likely to pet it.
As a mother to a child with WS, Nubia is aware of the unique care required for these kids and wants to share her daughter’s story in hopes of raising awareness and spur research. May is Williams Syndrome Awareness Month.
One of 10,000 people in the world are diagnosed with the condition, and an estimated 20,000 people in the U.S. are living with it. And, according to the National Institutes of Health, though health concerns associated with the syndrome are usually observed when the child is a year old, the average age they are diagnosed is 4.
THE HEART OF THE ISSUE
For Edie, the presence of WS was prominent at birth, and Dr. Vincent Macias, geneticist of Clinical Genetics in McAllen, was able to diagnose her just months after she was born. He recognized that she had facial features that most children with the condition share — puffiness around the eyes, a wider mouth and a smaller nose.
As soon as she was diagnosed, Edie began occupational, speech and physical therapy. When babies should be learning how to crawl, in therapy, Edie was being taught how to hold her head up since she lacked the muscle strength to do so.
Though these sessions improved her fine motor skills, Edie was still underweight. She finally began to grow at 2-years-old, but her veins and arteries were not growing with her.
In 2011, Edie had her first surgery, an open heart operation that would fix her weak pulmonary valve, which acts as a gateway for the flow of blood to the lungs. The procedure was done at Driscoll Children’s Hospital in Corpus Christi and was a success, but doctors warned Nubia that Edie’s body would not be able to endure another invasive surgery.
However, just a year later, Edie was showing symptoms of extreme fatigue.
“She was almost fainting every day and got tired from just walking around,” said Nubia, 39. “She would ask to be carried when we were outside, so I knew something was wrong.”
Nubia took Edie back to Driscoll Children’s Hospital where they diagnosed her with severe pulmonary stenosis, which is the obstruction of blood flow because of narrow veins and arteries. Since her condition was already critical, Nubia remembers being told that her job now was to “keep Edie happy,” she recalled.
“And that was it,” Nubia said of the moment she was told that her daughter’s only hope was a lung transplant. “I stayed in the office, just in complete shock. I could not speak, I was just crying and crying and couldn’t speak.”
Her grief only lasted a moment, though.
“I needed to get it together so I could represent her and see what needed to be done, see what I was going to do,” she said.
Nubia did research on pulmonary stenosis and discovered Dr. Frank Hanley, the chief of pediatric cardiac surgery at Lucile Packard Children’s Hospital at Stanford in Palo Alto, California. Just months earlier, Hanley performed a surgery that saved the life of another child with WS suffering from pulmonary stenosis — exactly what Edie was facing.
Hanley pioneered unifocalization, an extremely invasive procedure that reroutes weak and smaller blood vessels and connects them to the pulmonary trunk, which takes blood from the heart to the lungs. Hanley is the only doctor in the nation who has ever performed this procedure.
With the help of the Williams Syndrome Association, Nubia scheduled an appointment with Hanley in California. In December 2015, she received a call informing her that Edie, who was 7 at the time, was slated for surgery March 2016.
Hanley and his team took Edie in at 6:45 a.m. the morning of her sixth surgery, and the next time Nubia saw her daughter was 4 a.m. the next morning.
After the 21-hour operation, rather than normally having two arteries branching off of her pulmonary trunk, Edie now has 34.
The surgery was a success, but a long recovery process awaited.
RECOVERING AT HOME
Depending on an ECMO machine to perform the work of her lungs, Edie had her chest open for a week after the surgery and was asleep for 17 days after. Her seventh surgery took place just a week after the unifocalization procedure because her blood pressure was dangerously low and her kidneys were suffering from poor blood flow.
In the month Edie was hospitalized at the California hospital, there were three instances when her blood stopped flowing and received CPR with an open chest.
Edie woke up on Easter day 2016, and Nubia said that she took it as a sign of hope for her daughter’s recovery.
Besides the physical recovery of her muscles, Edie had to relearn basic skills, like how to speak and brush her teeth. She also suffered from ICU delirium, PTSD and anxiety.
Nubia remembers having to reintroduce herself to her daughter.
“She would cry for mom saying, ‘Mom, mom,’ and I was next to her on the bed holding her hand, telling her that I am right here,” she said. “It was so frustrating because I was there, but she did not know.
“… She just needed to be home.”
The day Edie was discharged, she had to be wheelchaired to her car because she could not walk; she had not learned how to balance herself while standing yet. However, the day after they returned home in Rio Grande City, Nubia said that Edie took her first step.
“She was walking the next day like everything was normal,” Nubia said. “She still needed a lot of work, but I think that being home helped her heal and gain some strength.”
Edie is currently a third grader at Alto Bonito Elementary. She loves singing Katy Perry songs and adores butterflies, especially monarchs. She also likes watching “Dr. Who” and “The Good Doctor;” and despite previous medical scares and invasive procedures, is fascinated with the medical field and hospitals.
Despite her condition, Edie is as capable as any other kid, Nubia said.
“It takes longer for her to do things and learn some things, but she will do it,” Nubia said. “It may take longer, but she will be able to do it.”
“Life with Edie is a novella,” she later added, embracing her daughter as she giggled, their noses touching and aligned, much like their relationship.