Ava Coulter is 41 inches tall and weighs 59 pounds. Courtesy of Tammy Coulter Tammy Coulter said she was a mess when her baby was diagnosed with a rare growth disorder. She fought for her child to be included in a trial for an experimental drug to treat the disease.
Her daughter, now 16, is much shorter than her peers but doesn’t let the condition stand in her way. When Ava Coulter had to wear a halo brace to help manage her genetic disorder, her mom, Tammy, said people looked uneasy when they saw how it was screwed into the toddler’s skull. She said that though Ava was 2 at the time, she picked up on the awkward moments.
But, Tammy Coulter said, her husband, Greg, thought of a solution — he told her to jazz up the halo with a pretend tiara. “It broke the ice,” Coulter said. She added, “Instead of struggling to find the right words, people said to Ava, ‘Oh, look at the princess!'”Ava was diagnosed with Morquio syndrome at 14 months old.
Children with the disorder lack an enzyme that causes the body to develop and strengthen the skeletal system. It leads to growth issues that affect bones, cartilage, and connective tissue, such as tendons and ligaments. According to the Children’s Hospital of Philadelphia, the condition is estimated to occur in one in 200,000 births.
The 52-year-old said that Ava, then 9 months old, was taking a bath when she “noticed that the bottom of her spine curved more than usual. “Ava’s pediatrician referred her to an orthopedic doctor who said Ava had kyphosis, a curvature of the spine affecting the upper back. In summer 2007, the baby underwent genetic testing.
The results showed Ava had Morquio syndrome. Tammy Coulter said Ava’s pretend tiara helped normalize the halo device she had to wear following one of her surgeries. Courtesy of Tammy Coulter”I was a mess,” Coulter said of the moment that she and Greg learned of Ava’s diagnosis.
The physician said children with the progressive condition not only had limited growth — making them considerably shorter than their peers — but also were likely to have problems with their heart, liver, and cognition. Worse, Coulter added, the specialist said the syndrome could cause “early death. “Coulter said she was told there was no treatment or cure.
But, the mom said, there was some hope. She said the doctor told her, “I believe that Ava’s generation will be the one to see it. “Ava had problems with her mobility and often relied on a scooterThe girl went on to have operations to lessen the effect of the abnormal growth of her bones.
Those included surgeries to her wrists, ankles, knees, and hips. She was fitted with the halo, Coulter said, to immobilize and stabilize her spine after surgery. The mom said that the princess tiara on Ava’s halo helped normalize the experience.
As the years went on, Ava needed a scooter to get around in kindergarten and had trouble with stairs. But, Coulter said, she was always cheerful. Ava, shown in the hospital at the age of 7, had weekly infusions of an enzyme-replacement-therapy drug.
Courtesy of Tammy Coulter”She’d find it hard to keep up with her friends sometimes, but she never got upset,” Coulter said. In summer 2011, the mom learned about an upcoming trial of a new drug. It was being developed to treat Morquio syndrome.
Ava, then 5, met the criteria. But the drug had to be administered once a week at a specialist hospital in Chicago — a 1,250-mile round trip from the Coulters’ home in Birmingham, Alabama. The family decided that the mother and daughter should make the weekly journey to Chicago.
They hoped that the drug — an enzyme-replacement therapy — would help Ava and other kids like her. “I said we would do it if we needed to,” Coulter said. Coulter said each of Ava’s infusions lasted four hours.
The trial was a double-blind study, but she said they realized that Ava was getting the real medication — called Vimizim — on their first visit. “It wasn’t a placebo,” she said, adding that Ava showed side effects such as hives, nausea, and stomach aches. Coulter has written a book about Ava’s medical journey.
Courtesy of Tammy CoulterBut they went for a second treatment. “We felt that we had to stay with it,” the mom said. Luckily, she added, Ava had no further reactions to the medication.
She said the cost of their 90-minute flights and hotel rooms in Chicago were covered by the pharmaceutical company behind the drug. But traveling could be exhausting. “There were weeks when it was physically and emotionally taxing,” Coulter said.
“I’d have to maneuver through the airport with Ava riding on my suitcase, and our flights were often canceled or delayed. “But they persevered. “God had provided this medicine that people had been working on for decades,” Coulter, who has a strong Christian faith, said.
“All I had to do was get Ava there and back. “Ava was quick to show signs of improvement, Coulter said. She added that her mobility increased dramatically.
The researchers monitored her speed and gait during stair-climbing exercises in the hospital. “She got faster and faster,” Coulter said. Coulter has written a memoir about her daughter’s medical journeyAva ditched her scooter and could carry heavier items.
“All the signs pointed to the fact that the drug was working,” Coulter said, adding that it slowed the progression of Ava’s disease. The Food and Drug Administration approved Vimizim in February 2014, 2 1/2 years after the beginning of the trial. Coulter said the researchers and the participants were overjoyed.
“It felt as if we were part of medical history,” the mom added. In June, Coulter published a book about the experience titled “She Is My Child: What My Daughter’s Medical Journey Taught Me About Faith, My Heavenly Father, and Flying Standby. “Ava says she has a lot of energy.
Courtesy of Ava CoulterMeanwhile, Ava, now 16, continues to have the same weekly infusions — but at a hospital in her home city. She told Insider her treatment lasted a total of five hours because she’s older with a greater body mass. She is still much smaller than her peers, at just 41 inches tall and 59 pounds.
“My size hasn’t stopped me from doing anything,” Ava, who has regular checkups with a cardiologist and pulmonologist, said. “I have a lot of energy. “As for those weekly trips to Chicago with her mom, she said she didn’t “miss them much.
” But, she said, she misses her fellow participants in the trial. “We gave each other a lot of support,” Ava added. Read the original article on Insider.
From: insider
URL: https://www.insider.com/devoted-mom-flew-1300-miles-week-get-treatment-kid-2022-10
