“Shhh, Ava, shhh, shhh,” Courtney De Luna whispers to her daughter, Ava Pina, while rocking her and stroking her soft brown hair as Ava’s wails cut through the early morning darkness at their home in Victoria.
Her husband, Justin Shoup, and son, Jacob, were sleeping in the next room while Courtney helped Ava get ready for school.
A typical setting for many families: A mother preparing breakfast, a child crying at the table and a backpack set on a chair in preparation for the learning ahead.
But this family faces a struggle that only 1 in 20,000 people do, according to the National Institutes of Health.
Her mom recognizes the signs of a sleepless night as Ava’s cries tug at her heart. At 8 years old, Ava cannot tell her mother what is wrong. She cannot ask her mother for a hug or cereal for breakfast; she cannot explain how sleepy she is or if her stomach is hurting.
Being nonverbal and unable to sleep through the night are two of the many symptoms related to her disorder, Angelman syndrome.
At 4 feet, 1 inch tall with bright, brown eyes and a sweet smile that radiates happiness, Ava will never be fully independent but has already surpassed doctors’ predictions.
Doctors said Ava may never learn to walk, but at 21/2 years old, Ava surprised her mother.
“She began by scooching around on her butt for a long time, and then one day, she just got up and started walking,” De Luna said with a laugh. “Now, she’ll run, and it’s hard to keep up with her; she’s quick!”
Ava gestures for her favorite flavor Jell-O cup from their pantry; she pulls her mother along to show her something and says hello by slipping her petite hand into her mom’s with a warm smile on her face.
Though Ava is more mobile than anticipated, the challenges from Angelman syndrome are still serious.
She has physical and intellectual developmental delays, seizures and problems with movement and balance and has undergone surgery on both eyes to correct crossed eyes.
De Luna’s mother, Donna Nobles, was the first to point out Ava wasn’t cooing or making eye contact like a typical baby.
At 17 years old, De Luna was already dealing with more than the average teenager. She was learning to be a single mother of a premature baby while living with her mom and working full time.
It was difficult for her to admit to herself that something was wrong with her beautiful baby girl. When Ava didn’t begin rolling over like other infants her age, De Luna knew something was wrong. She voiced her concerns to her doctor and was referred to a neurologist.
The worst day
Ava was diagnosed with Angelman syndrome around the time she turned 1 and started experiencing seizures at 3.
Ava has endured grand mal seizures, which feature a loss of consciousness and violent muscle contractions. The seizures can arrive back to back and last more than an hour. She also experiences smaller seizures that last only a few seconds but can occur in clusters.
De Luna knows when to treat Ava with an injection of diazepam or if she needs to get her to a hospital.
The worst day still haunts De Luna.
“We had to fly her to Houston; (the doctors) usually can control the seizures, but they couldn’t, and she was seizing for about an hour,” De Luna said. “When that’s happening, it feels like forever.”
Heat, sickness, exhaustion or a lot of activity can trigger a seizure.
We took her to Splashway, and I thought the cool water would help with her body temperature, but it didn’t,” De Luna said. “She can’t regulate her body heat the way other children can. Both times we went to a water park, she ended up having a seizure, so we don’t go anymore.”
Water parks aren’t the only thing stricken from the list of what Ava is able to enjoy. Most activities children her age do – playing at the park, visiting the zoo, running around in sprinklers under the summer sun – must be limited.
She plays indoors with her toys, watches movies and spends time with her family at home or in air-conditioned environments.
“She loves to run. Even though it’s not great for her, we’ll run for little periods of time,” Shoup said. “We eat gummy bears together and go down the slide together.”
Treating Angelman syndrome
De Luna quit her job when she had her son, Jacob, finding she couldn’t work while also taking care of him and Ava.
De Luna tried to enroll Ava in a local day care but was called to pick up Ava on the first day.
“Ava wouldn’t let them put her seat belt on,” De Luna said. “That was it. They told me that it wouldn’t work after only one day.”
Though she is frustrated with the lack of support for a child with Angelman syndrome in a small city like Victoria, De Luna is grateful Ava’s medical needs are covered by Medicaid through Supplemental Security Income. Without it, they would be paying for her emergency room visits, ambulance rides, hospital appointments, therapy and prescriptions out of pocket.
“It would be thousands and thousands of dollars.” De Luna said.
In 2009, while De Luna was still working full time, Medicaid stopped covering Ava’s therapy at Health Force in Victoria. She was missing appointments and wasn’t meeting milestones on schedule.
In 2013, De Luna could see Ava was more capable physically and mentally, so she felt it was time to start therapy again.
“It’s frustrating sometimes; I may still have to help her get dressed, but every couple years she will learn a new thing. She is improving; it’s just slower than children with other disorders,” De Luna said.
Ava is a third-grader at Smith Elementary School. During the school day, Ava’s schedule can be hectic. She goes to Health Force three days a week for speech, occupational and physical therapy.
Sitting with her daughter at dinner in April 2013 after one of their biannual appointments at Texas Children’s Hospital in Houston, De Luna encouraged Ava to grab a spoon to feed herself macaroni and cheese.
“You can do it, Ava! You can; you almost had it,” De Luna said, patiently cheering on her daughter with each attempt.
Though Ava put the spoon down again without getting any noodles onto it, De Luna knew Ava would get there. “She’ll do it someday; I know she will,” De Luna said, taking the spoon in her own hand and helping her daughter try again.
Today, De Luna is seeing all that practice and patience pay off. Ava has started to feed herself – though De Luna admits it’s mostly when Ava feels like it.
“Ava is stubborn, persistent and very strong willed,” De Luna said.
De Luna and her daughter have a deep relationship. They gravitate to each other naturally – whether it’s De Luna wrapping her arms around her daughter as they play whack-a-mole together at Peter Piper Pizza or Ava quietly cuddling into the nook of her mom’s arm on the couch at home.
Wherever Ava is, De Luna usually is, too.
“It’s the best it can get. I’ve never seen a relationship that close,” her husband Shoup said.
A growing family
Shoup met De Luna when he was in sixth grade, and they reconnected soon after Ava was diagnosed.
They got married May 19, 2012. Shoup said he’s always seen Ava as his daughter.
“I’ve always considered Ava mine,” he said, his voice filled with affection. “There’s just something about that little girl.”
He fondly describes Ava as bossy and outgoing.
“She’s my baby,” he said. “There’s nothing I would change about Ava – except the seizures. I don’t think you can ever get used to them.”
When De Luna and Shoup found out they were pregnant, they talked about the possibility of Jacob also having the syndrome.
“It was just something to consider,” Shoup said. It wouldn’t have mattered to me either way.”
They were concerned how Ava would react to Jacob’s inclusion in their daily life.
“I thought she might not allow me to give Jacob the attention he needed when he was baby. I was scared she might regress and stop making progress,” De Luna said.
The opposite turned out to be true. Jacob’s presence in Ava’s life has helped her blossom and be more aware of the world around her. Ava used to keep to herself, but now, she’ll play with other children. She’ll even go up to people to initiate interaction.
De Luna knows Ava’s life will be full of difficult decisions. As Ava grows older, she will face obstacles she may not understand.
“I worry about being unable to take care of her. It scares the crap out of me,” De Luna said, shaking her head as if to expel the thoughts from her mind for another day.
“I’ve come to terms with everything else except that. I just want to be around forever so I don’t have to worry about it.”
At 2 years old, Jacob’s small, cheerful existence fills De Luna with hope for Ava’s future after she’s gone.
“I hope that he has a good heart when he’s older and will be willing to take on this responsibility,” De Luna said. “If someone in our family could take care of her, that’s all I’d want.”
A step in the right direction
After two years of sleepless nights for Ava and her mom, countless doctors and failed attempts at non-medicinal solutions, Ava was referred to a geneticist: Dr. Carlos Bacino at Texas Children’s Hospital.
In June, Ava and her mom finally started to enjoy more regular rest, as Ava’s medication to treat seizures was adjusted. Since the change, Ava has slept through the night every night.
“She’s not falling asleep in school, and it’ll help her seizures happen less frequently,” De Luna said with relief.
This step in the right direction is one of many they’d like to accomplish to make Ava’s life easier and help her progress.
De Luna and Shoup’s main goal for the next few years is simple and optimistic: They’d like Ava to learn to communicate better.
“I want her to be able to tell me when she doesn’t feel good. That’s something that I’m still clueless on – it’s always a guessing game,” De Luna said.
Though people with Angelman syndrome are not usually expected to learn to speak, her parents are keeping their minds open.
“They told me she wouldn’t talk, but they also said she wouldn’t walk or run,” De Luna said. “I was told she would drool a lot, maybe need a wheelchair. They didn’t give us much hope for anything.”
Sitting in their living room as Ava runs back and forth excitedly as they get ready to go outside for a quick dip in a kiddie pool, De Luna believes in all the possibilities she couldn’t before.
After eight years of living with this syndrome, De Luna and Shoup know there will be new challenges for Ava they haven’t considered yet. There will always be an element of uncertainty.
But De Luna is always by Ava’s side, patiently optimistic about her future and refusing to give up.
“She’ll need to be taken care of the rest of her life,” De Luna said. “And I plan to be here for her as long as I can.”
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