It’s been more than three months since Luz Perez has smiled.
The 11-year-old Donna girl suffers from Rett syndrome, a severe neurological and developmental disorder that renders those who live with it immobile and nonverbal. In Luz’s case, she’s not only confined to her pink motorized wheelchair, but can only communicate by smiling.
If she prefers one hairbow over another, she smiles. It’s also, of course, her way of expressing joy. When Enrique Iglesias’ music starts to play, she smiles. And when her older brother, Diego dances for her, she smiles.
But ever since Luz had bilateral hip surgery in July to reposition her hip bones, which were misaligned from sitting in a wheelchair almost her entire life, she is not the easily delighted girl her mother, Karla Perez, remembers.
“Do you want to smile for me, mama?” Karla asked her daughter earlier this month, cupping her daughter’s face, tickling cheeks that did not smile back.
“I just want to see your smile. You’re not ready to smile yet?”
Luz closed her eyes.
Rett syndrome is caused by a spontaneous chromosomal mutation found almost exclusively in girls. The disorder is usually recognized during a child’s first couple years of life, as they either slowly lose their ability to talk and stand, or never reach those milestones at all. Luz was diagnosed when she was 22-months-old, and has never said a word or stood on her own.
Karla spoke for her daughter, which she does often: “I’m here, just trapped. I know what you’re talking about. I can’t respond with words, but I understand.”
A study conducted at Montefiore Medical Center in New York showed that children with Rett can comprehend information better than expected. Researchers used eye-gaze technology that tracks subjects’ eye movements to allow them to respond to questions.
Additional symptoms of Rett include scoliosis, breathing issues, slowed growth rate, loss of muscle tone and seizures, which have been Luz’s greatest issue so far.
The most distinguishable characteristic is repetitive and irregular hand movements, which is how Dr. Marcos Valdez, the second neurologist Luz saw before being diagnosed, identified her condition.
There is no cure yet, only treatments and medications that help manage symptoms. So, as a mother of a daughter who suffers from Rett, Karla, 34, wants to share Luz’s story with as many people as she can, to promote awareness and spur research. October is Rett Syndrome Awareness month.
Rett is estimated to affect one in every 10,000 people worldwide, and through Rettsyndrome.org, a global organization that advocates for research, Karla has been connected to nine other families in the Rio Grande Valley with children who have it, including one boy in Brownsville.
The walls of Luz’s room are painted in pink and purple, and like many other young girls, she has stuffed animals — most of which are unicorns — sitting on almost every piece of furniture there. Big hair bows and framed photos adorn the space. One shows Luz wearing a kindergarten graduation stole, and in another, she is sitting on a toy horse when she was 2, with her father, Juan Perez, propping her up.
But the room also shows a struggle most don’t face.
Next to Luz’s bed is a BiPaP machine which helps her breathe when she sleeps, and a pulse oximeter, which monitors her oxygen levels and heart rate throughout the night. If either of those levels go over or under normal settings, the machine beeps, signaling to Karla that Luz is struggling to breathe or may be having a seizure — a sound she is all too familiar with.
“There are nights when I do not sleep, but it’s OK, I am used to it,” Karla said, who used to be a medical biller at Therapy Associates, a rehab center in Weslaco that closed in 2013. Since then, she has been a stay-at-home mother.
“I sleep, but I still listen for the beeping,” she added.
Luz has been having seizures since she was 4 years old and started taking medications for the episodes every day since a week before her fifth birthday, Karla said. However, it was just recently that her seizures have become more frequent.
On average, Luz has been experiencing seizures two to three times a week in the past year. And this month, the dose of one of her four seizure medications increased.
“In three weeks, we will see how she does,” Karla said. “And that’s all we can do, try and wait.
“All the medications she takes are for the seizures or for muscles. There is no treatment, nothing for her to get better.”
Luz also struggles with sleep apnea, and to alleviate obstructive cause, she had her tonsils and adenoids removed in 2016 at Texas Children’s Hospital in Houston, the closest hospital with a Rett center to Donna. However, she still faces central sleep apnea, which means that sometimes her brain does not send proper signals to muscles that control breathing while she sleeps.
“Sometimes her oxygen levels are low, and it’s beeping and its beeping, all night long, so I don’t really get a good night’s rest,” Karla said. “On those nights, I talk to her and tell her: ‘It’s OK if you do not want to sleep, that’s OK. Just breathe, keep breathing.”
Karla added that if Luz’s seizures continue at this rate, they may have to trade her bed for a hospital bed. But Karla has been stalling on that decision because to her, having to do this will be another reminder of how her daughter’s life is so different than almost every other child’s.
“We don’t really want her to have one (a hospital bed) because we want to keep everything as normal as possible. She already has a lot of stuff in her room,” Karla said, referring to Luz’s medical equipment.
An IV pole stands in the corner of Luz’s room, and hanging from it are medals she has earned from past awareness walks. Many more hang from hooks on the wall.
In 2010, a year after Luz was diagnosed, Karla hosted the first Rett Syndrome Awareness Stroll-A-Thon in Donna. Though she did not continue the event the following years because of poor turnout, she decided to try again in 2015 after meeting nine other families in the region with children with Rett through Rettsyndrome.org.
The annual event has been successful since then, but won’t be happening this year because of Luz’s current condition.
Taped to the wall of Luz’s room is a card she received when she turned 9 that reads: “Happy birthday and get well soon, XOXO. Your Rett sister, Courtney.”
Luz met Courtney, who was 14 when she gave her the card, through Girl Power 2 Cure, a nonprofit organization that aims to educate people about the syndrome, and connects families with children who have it together.
Karla said that local families with children with Rett, who she calls her “Rett family,” meet at least once a year for a picnic, and they all lean on each other while facing the syndrome.
“It’s scary, but our community, the Rett community here, is very close. We are all different, we all come from different backgrounds, different levels, but we are still all the same –– in this, we are all the same,” she said.
Luz started sixth grade this year at A.P. Solis Middle School in Donna, and is taking a dance class as one of her electives.
“I don’t know where she gets her strength from,” Karla said through tears, holding onto her daughter’s hand. “(When I see her, I see) someone really strong, who never gives up.”
Though witnessing her daughter struggle with the condition is painful, Karla has faith that Luz will have a miraculous recovery one day.
She even dreamed of Luz speaking and thought she felt her standing beside her one morning.
“I have had dreams of her talking to me saying, ‘Mom, I love you,’” Karla said, adding that her greatest wish is that her daughter will someday have a voice. “I have had dreams where she is standing next to me, I have felt her and woke up scared, and of course it is just a dream, but I guess I have those dreams because those are the things I really want.”