If you were to meet 9-year-old Evelyn Pool at one of her favorite hangouts—the playground or a ski slope—she’d give you such a friendly greeting, you’d never guess the challenges she’s faced.

But in a health journey that’s spanned three states and multiple diagnoses, Evie could teach you plenty about resilience.

From her earliest days, she struggled.

Beth and Brendan Pool had been trying to have a child for eight years, so when Beth became pregnant in 2012, they were thrilled.

Beth’s labor proved difficult, but everything seemed fine once little Evie arrived.

They lived in Ocala, Florida, at the time.

But even in those early months, Beth often wondered why her new baby hadn’t gained much weight. She also noticed Evie hadn’t reached developmental milestones, such as picking up her head.

She kept in close contact with doctors.

At month six, a doctor arranged a consultation with a pediatric neurologist.

“Evie was still the size of a newborn and had the physical capacity of a newborn, too,” Beth said. “She couldn’t lift her head. And she had only gained three pounds since birth.”

The specialist admitted Evie into the hospital.

First, she received a nasogastric tube for feeding.

“Suddenly, we began meeting with geneticists and neurologists,” Beth said. “They started oral motor therapy, like speech therapy, trying to get her muscles conditioned so she could suck better. We just didn’t know what was going on.”

Despite lots of tests, answers were elusive.

By the time Evie reached 15 months, she had transitioned to a gastric tube that went directly to her stomach.

‘The most resilient kid’

A few months later, Beth and Brendan welcomed baby Corinne.

“That was the best thing for Evie,” Beth said. “Because as Corinne progressed to crawling, Evie was finally sitting up on her own. You could watch it in her eyes, like, ‘I need to do that, too.’ So she started scooting with Corinne because that was motivation for her.”

About that time, specialists initially diagnosed Evie with mitochondrial disease, a rare genetic condition in which the mitochondria can’t produce enough energy for proper cell function.

“Not a lot is known about that,” Beth said.

Brendan’s work soon took the family to Boston, where they transitioned to another care team.

There, Evie received an updated diagnosis of de novo gene mutation, a genetic alteration that is present for the first time in one family member due to a variant, or mutation.

By then, at age 3 1/2, Evie could crawl but she couldn’t hold her head up very well.

“She was super delayed,” Beth said. “But she’s always been a fighter and the most resilient kid in the world.”

Another move brought the family to Michigan, where Evie’s care shifted to Spectrum Health Helen DeVos Children’s Hospital.

She experienced complications with her feeding devices, which required periodic interventional radiology treatments, as well as insertion of a scope into her stomach and small intestine.

At age 5, she faced additional struggles.

“She was medically homebound because she was losing weight and started sleeping much more, including four hours every afternoon,” Beth said. “She was having severe behavior issues and we didn’t know what was going on.”

At that point, Evie began seeing Seth DeVries, MD, a pediatric neurologist with Spectrum Health.

“Evie was absolutely a mystery,” Dr. DeVries said.

The health team assessed Evie for mitochondrial disorder, as well as inborn errors and metabolism. None of the mitochondrial tests were conclusive.

“No tangible results came up,” Dr. DeVries said.

Then, Evie experienced a seizure that brought many of her problems into focus.

“Her lips turned blue, she was stiff as a board,” Beth said. “And it lasted almost five full minutes.”

Beth took her to the emergency department, where her condition improved after about an hour.

She left the hospital with an appointment with Dr. DeVries, for a 30-minute electroencephalography. This non-invasive procedure would allow the health care team to take a closer look at electrical activity in the brain.

Beth and Brendan weren’t sure what to expect.

“By that time, we had been through so many tests with her and we were so used to them not leading to any conclusive information,” Beth said. “So when Dr. DeVries walked in after that test and said, ‘She has epilepsy,’ we were amazed.”

As jarring as the diagnosis sounded, it provided some answers.

“It was also a relief to hear someone say, definitively, ‘This is what’s wrong and here’s what we’re going to do about it,'” Beth said.

The family has since learned the de novo gene is associated with uncontrolled epilepsy.

“So we suspect Evie has had epilepsy all along, in addition to her other conditions,” Beth said. “We just didn’t know it.”

‘A sweet spirit’

Doctors prescribed Evie an anti-seizure medication, which initially led to some behavioral side effects. They then switched to a different prescription that treated the symptoms without side effects.

“Her behavior improved significantly, as did her ability to learn and retain information,” Dr. DeVries said. “She’s grown and developed by leaps and bounds.”

In addition to the de novo gene, she also received a diagnosis of autism.

The specialists on her health care team have worked closely to treat her, Beth said.

And it’s paying off. Evie is finally able to do many of the same things other children her age do, like swinging, sliding and running at the playground.

She’s a “spunky, fun kid with the best sense of humor,” Beth said. “She makes everyone laugh. We like to call her the Grand Haven Greeter, because she likes to say hi to everyone.”

Evie’s siblings—Corinne, now 7, and Nolan, 5—are always watching out for her.

The Pool kids and their dog, Hazel, enjoy spending time outdoors. They frequent many of Grand Haven’s playgrounds with their parents and they’re fond of the beach.

“Evie loves the water,” Beth said.

They also like to ride around on a Bunch Bike, an electric bike with room for all of them.

Evie has progressed tremendously, her family said. She even helps her family with snow shoveling.

She’s developed a deep love for music and reading.

“She constantly makes connections between something she has seen or read and something happening in real life,” Beth said. “She is just a sweet spirit and super resilient.”