Health & Family

Rock Hill baby battles rare genetic condition

By Rachel Southmayd, rsouthmayd@heraldonline.com

Triton Ayers receives physical therapy from Carrie Tomeck at Piedmont Medical Center in Rock Hill.
Triton Ayers receives physical therapy from Carrie Tomeck at Piedmont Medical Center in Rock Hill. aburriss@heraldonline.com

When Triton Ayers was 2 months old, he spent a day in the care of his grandmother, Rachel Walker. In the span of a few hours, he stopped breathing several times, turning blue and making his grandmother sick with worry.

Days later, his parents, Heather Harkey and Josh Ayers, were at Levine Children’s Hospital in Charlotte, waiting for answers to questions they’d had since before Triton was born.

After a litany of tests, they finally had a diagnosis: Trisomy 9, a rare genetic disease.

A STRANGE PREGNANCY

When Harkey, now 25, was pregnant with Triton, everything seemed to be progressing normally, just as it was when she was pregnant with the couple’s daughter, Lorelei, now 5. The family lives in Rock Hill.

Then, when she was four months along, “normal” stopped. She began bleeding, and Triton’s body mass seemed to be shrinking in utero. Despite eating 3,000-4,000 calories a day, when Harkey was nine months pregnant, her belly only measured at what it should have been at four months.

When Triton was born at full-term in June at Piedmont Medical Center, he weighed just under 5 pounds. His umbilical cord was the size of Harkey’s pinkie finger.

“The doctors told me he had a low birth weight because I smoked during my pregnancy, but I didn’t,” Harkey said. “They couldn’t give us any other reasons.”

A SAD, SICK BABY

From the moment Harkey saw Triton, she knew something about him was “off.”

“I looked at him and I knew his features were not normal,” she said.

His eyes were close together, his ears were very low and he looked “like a little old man,” said his father, Josh Ayers.

He didn’t gain weight like normal babies, he would throw up nearly everything he ate and he would have episodes daily when he’d stop breathing. Doctors continued to tell Ayers and Harkey that all of Triton’s issues could be explained by his low birth weight.

They grew accustomed to simply blowing in Triton’s face whenever he started to turn blue, adjusting to the needs of their little boy.

Then came the visit with Walker, Harkey’s mother, that shook them from their complacency. A trip to Levine led to a diagnosis.

“The genetics doctor took one look at him and said, ‘I can look at any child and tell what genetic issues they have, but I look at your son and I just don’t know,’” Harkey said, recalling the visit.

Blood work and two rounds of genetic testing showed Triton had Trisomy 9, an extremely rare genetic disorder in the same family of diseases as Down syndrome and Edwards syndrome, known as Trisomy conditions.

“The doctors gave us almost no hope,” Harkey said. “They couldn’t explain anything.”

They started doing their own research online, which was more terrifying at first than helpful. But they found a private Facebook page for families of children, and a few adults, with Trisomy 9.

That page is now Harkey’s primary resource for information about Triton’s condition.

“The people on there told us we were going to have to be Triton’s doctors, we were going to have to fight for his care every step of the way and they were right,” Harkey said.

SAVING TRITON

Harkey and Ayers said they’re sure that if they hadn’t taken Triton to Levine when they did, he wouldn’t have lived much longer.

At Levine, Triton had a feeding tube inserted in his belly so he could finally eat. His condition had caused severe acid reflux and the small flap that protects his airway when he ate wasn’t working properly.

“Each time he ate, he was drowning,” Rachel Walker said. “That’s why it was so hard for him.”

When Triton woke up for the first time after the surgery to put in the feeding tube, Ayers was standing over him. After living his entire life to that point with a sad demeanor and a pained, pinched face, Triton’s eyes locked on Ayers, lit up and a smile spread across his face.

The pictures and video of that moment still bring tears to Harkey and Ayers’ eyes.

“He was hurting, he was in pain,” Harkey said. “He knew, now that I’ve got this feeding tube, I’m going to be OK.”

Triton started gaining weight with the help of the feeding tube. The boy that had been a fussy infant his entire life was suddenly happy and alert, rarely crying.

Now, at 9 months old, Triton doesn’t even need the feeding tube. He drinks formula from a bottle, and Harkey and Ayers are slowly introducing him to baby food.

He now weighs more than 15 pounds and is about the size of a 4-month-old. He loves being held and cuddled and played with by family members, especially his 5-year-old sister, Lorelei.

“He’s such an easy baby, he’s so happy and calm,” Ayers said.

And his family doesn’t mind his small stature or delayed development.

“The silver lining is you get to have a baby for a lot longer,” said Walker. “They grow up so fast, but he’s still little.”

OVERCOMING CHALLENGES

Because of the issues caused by Trisomy 9, Triton is behind other children his age with developmental milestones. He faces constant physical challenges.

His eyes are “googly eyes,” Harkey said, his spine is curved and his head is misshapen because the neck muscles in his neck are forming more on one side than the other.

Triton will have multiple surgeries to help some of these issues, but the family also relies on different therapy appointments several times a week to help Triton develop.

He’s taken occupational and speech therapy. Even though he can’t talk yet, the speech therapist helped improve Triton’s swallowing so he can eat like a normal child.

At least twice a week now, Triton visits Carrie Tomeck at Piedmont Medical Center for physical therapy. On a large bed, Tomeck plays with Triton in special ways to work on his neck and back muscles and to improve his motor skills.

She bounces him on a large ball and lays him across it to stretch his back. She shakes a toy on his bad side to encourage him to turn his head that direction and helps him roll over, something he can’t do on his own yet.

Tomeck uses another toy to help Triton push buttons to make it light up or make noises.

“He’s starting to get it,” she said, watching his eyes get wider each time a noise came out when he pushed a button.

AN UNCERTAIN FUTURE

Trisomy 9 is so rare, there is no treatment protocol for it. Ayers and Harkey said there are less than 200 cases in the world today. They don’t know exactly what to expect medically, developmentally or emotionally from Triton as he grows.

While various doctors are doing their best to prescribe treatments and surgeries to help Triton, “we’re taking it one issue at a time,” they said.

In the next few months, Triton will have abdominal surgery, then they’ll start to address his spinal issues. If Triton continues to eat and gain weight on his own, they hope to take the feeding tube out soon, because he doesn’t seem to need it anymore.

There is no official life expectancy for Trisomy 9 patients. Some die, unexpectedly, when they’re toddlers. Others live well into their childhood. A handful make it to adulthood. Harkey said there’s one woman on the Facebook page who is in her late 30s.

“We don’t know what’s going to happen,” Harkey said. “So we just enjoy him while he’s here.”

Meanwhile, his sister, Lorelei, now says she wants to be a doctor when she grows up so she can take care of Triton and children like him, something Harkey and Ayers said she came up with completely on her own.

Ayers is a huge Clemson University fan and Triton is often seen wearing orange. When he knew he was having a son, Ayers said he had dreams Triton would play football for Clemson. They joke that because of Trisomy 9’s rarity, Triton is the only Clemson fan with the condition.

Now, he and Harkey proudly talk about a new goal for their little boy.

“We want him to win a gold medal at the Special Olympics,” Harkey said.

They don’t know what event Triton will compete in yet, but they’re sure he’ll be there, Ayers said.

Harkey is also dedicated to raising awareness of Trisomy 9. There’s only one institute in the country she’s found that actively researches the condition – Southern Illinois University Carbondale – and there are no foundations raising funds for research in the United States. Once the awareness level increases, Harkey said there’s one more thing she’d like to accomplish.

“I want them to name it ‘Triton’s Disease,’” she said. “I’m going to take charge because no one else seems to be.”

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What is Trisomy 9?

▪ A condition where a person develops an extra copy or piece of chromosome number 9.

▪ Symptoms from Trisomy 9 vary greatly from case to case, but many patients have organ problems, spinal issues and problems with their eyes and teeth.

▪ Some patients with Trisomy 9 die in early childhood, but others live into adulthood, depending on the severity of their symptoms.

▪ Trisomy 9 is not passed from parent to child and occurs randomly.

▪ There are an extremely small number of cases and no specific protocol for Trisomy 9 patients.

▪ March has been dedicated Trisomy Awareness Month by the National Institute of Child Health and Human Development.

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Oakridge Middle School student Victoria Kalau contributed.

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