Seven-year-old Elliot Parker is a thriving first grader with a lot of spunk. Her parents, Caitlin and Andrew, describe her as creative, empathetic and super smart.
“She is always looking for solutions, and loves making people laugh,” Caitlin says. “And she usually has a joke or two up her sleeve.”
One day before Elliot’s first birthday, she was diagnosed with LAMA2 muscular dystrophy (LAMA2-MD), an extremely rare genetic disorder that causes weakness and atrophy (wasting of the muscles). Elliot is currently one of just 250 registered cases in the world.
Elliot and her family make it a point to find light along her journey, while navigating the twists and turns. Along this path, she has been fortunate enough to receive top-ranked pulmonology care from Atrium Health Levine Children’s, a Best Children’s Hospital for pulmonology according to U.S. News & World Report.
Discovering a Diagnosis
Like many new moms, Caitlin was learning along the way. Getting to know her daughter and how her personal journey would unfold. Part of that journey was realizing that Elliot would need a larger village of support. When Caitlin noticed a few symptoms that seemed unique for a newborn, she decided to get a second opinion.
Caitlin, a certified child life specialist who has been with Levine Children’s for 13 years, was picking up on some symptoms that, in her experience, were not typical newborn behaviors, especially from a muscular, orthopedic and pulmonology standpoint. In her clinical experience, Caitlin knew that early intervention is the best intervention.
Caitlin and Elliot met with Dr. Brian Scannell, a pediatric orthopedic surgeon at Levine Children’s. Caitlin explained how Elliot's muscles were weaker than her peers and that she had difficulty clearing congestion. She also told Scannell that Elliot would fall asleep often, especially during wake time activities. Scannell agreed that Elliot should make an appointment for further testing with a pediatric genetics doctor.
Elliot’s blood test results came back quickly and showed that her creatine phosphokinase (CPK) levels were thousands higher than the normal range – an indication of muscle disease, that impacted every system of her body, including her lungs.
When Caitlin learned that her one-year-old daughter had LAMA2-MD, she went into action mode.
“I didn’t understand the specifics, but once we had a diagnosis, I wanted to get Elliot’s care team lined up,” Caitlin says. “I started researching specialists in our area so we would know what to do next.”
Establishing a Dream Team
Caitlin and Andrew knew that Elliot would need to receive care from multiple specialties, and that coordinated care would be crucial to Elliot’s treatment plan, so they wanted a health care system that would be a “one-stop-shop” for the best children’s care.
“Levine Children’s is head-to-toe care, including supporting our emotional needs. We recognize that other families have to come from a longer way away for access to this level of care. It’s a gift to us that it is right here in our city.”
Experts across multiple specialties work together to provide Elliot with seamless care, with her pediatric pulmonologists, Dr. Ashley Chadha and Dr. Rosemary Megalaa, at the helm.
“Pulmonology is a huge piece of Elliot’s care,” Caitlin says. “Keeping her airway happy and healthy is most important right now.”
Chadha says Elliot’s condition requires several treatments and devices to support her respiratory system.
“Elliot utilizes a shake vest, cough assist device, and noninvasive ventilation to help her mobilize mucus from her lungs and get more restful and safe sleep, Chadha says. “In the absence of these support devices, she would be at risk for recurrent lung infections and possible respiratory failure.”
In addition to her lungs, several other vital functions are impacted by Elliot's condition, which means additional specialties play their own critical roles in Elliot’s care. She sees her pediatric cardiologist once a year to check in and keep an eye out for heart issues like cardiomyopathy. Gastroenterology also plays a part in Elliot’s road map for care. And since seizures are a potential component of LAMA2-MD, it’s recommended that Elliot checks in with the pediatric neurology team along with other disciplines to help identify potential needs.
Elliot also works with the pediatric orthopedic team to focus on muscle, joint and spinal health. In 2022, Elliot had major back surgery to insert growing rods, a surgical treatment for children with scoliosis. The procedure included consultations with Elliot’s cardiologists and pulmonologists to assess her lung capacity and ensure she could handle the anesthesia. By working in concert, the teams reduced Elliot’s 96-degree spinal curve to less than 20 degrees.
“It’s unfathomable that Elliot can receive this level of care through one health care system so close to our home,” Caitlin says. “The communication and efficiency of having her care under one umbrella has been integral to her success, and critical to my husband and I being able to cope with the needs that were made apparent in her first few years of life.”
Finding a Way Forward
Given the nature of Elliot’s diagnosis, Caitlin and Andrew know she will have life-long reliance on the health care system.
“That is part of why we are grateful for Levine Children’s,” Caitlin says. “We are constantly communicating with her doctors, nurses and case managers as her disease fluctuates and new challenges arise. We may not know the answers, but we can ask the experts and we trust their insight.”
Chadha says Elliot and her family have been truly amazing throughout every up and down of this journey.
“They work as a team to tackle the next challenge and come out on the other side better than before,” Chadha says. “Having the honor of working with them has made me a better physician – and honestly, a better parent.”
“The honest truth is, it’s not all roses. Some days are really hard,” Caitlin says. “But our lifelong goal is for Elliot to take up space unapologetically. And the team at Levine Children's helps us make that possible each step of the way.”
While her parents continue to seek opportunities to help her find ways to make a place for herself in the world, Elliot continues to take each day as it comes, whether that’s with art projects, gardening or Minecraft.
“Elliot will tell you that God made her just the way she is on purpose, for a purpose,” Caitlin says. “And we wouldn't have it any other way.”
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