‘The puzzle pieces made sense’


The moment their little baby, Hazel, came into this world, Logan and Jade O’Brien knew something was wrong.

Hazel didn’t cry or make any of the sounds a new baby might make at birth. She was completely silent.

Her skin had a purplish hue, too.

When the care team briefly took Hazel off to the side—instead of placing her on Jade’s chest, as had been done when her older two children were born—Jade began to worry.

A nurse in the delivery room at Spectrum Health Helen DeVos Children’s Hospital offered calming reassurance.

“I didn’t really know what was happening,” Jade said. “All I knew was that this was out of the ordinary.”

She remembers watching as the nurses and Logan gathered around Hazel. Her husband seemed to be holding his breath.

“His shoulders were so tense,” Jade said. “And I still hadn’t heard Hazel make a noise—not even a squeak.”

After what felt like an eternity, Hazel finally let out a cry.

“It was such blessing to hear,” Jade said. “But there was still something wrong. Her skin was sinking deep into her chest cavity with every inhale, after every scream.”

When Hazel quieted a bit, the nurses placed her on Jade’s chest. It gave mom and new baby a treasured moment to connect, if only briefly.

The nurses whisked Hazel off to the Gerber Foundation Neonatal Center at Spectrum Health Helen DeVos Children’s Hospital, where she spent 13 days undergoing treatment for feeding difficulties and respiratory issues.

She had an echocardiogram, too, which revealed several heart defects.

When her parents could finally feed her without assistance from the care team, the family returned to their home in Ludington, Michigan.

But that, too, would be a short respite.

‘Great to have an answer’

A few weeks later, the O’Briens had a follow-up appointment with pediatric cardiologists at The Karl and Patricia Betz Congenital Heart Center at Helen DeVos Children’s Hospital.

Doctors wanted to identify the cause of Hazel’s arrythmia and heart defects. They admitted her to the hospital to undergo an extensive evaluation with team members in cardiology, rheumatology and genetics.

Jade and Logan soon met with Caleb Bupp, MD, division chief for medical genetics at Spectrum Health.

“I knew we would need rapid whole genome testing on her,” Dr. Bupp said. “There were too many questions we didn’t have answers for.”

A genetic blood test soon revealed the root cause of Hazel’s heart defects—Noonan syndrome, caused by a rare RIT1 gene mutation.

Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects at birth, bleeding problems and developmental delays.

“It’s connected to one of the more important genetic pathways in the body,” Dr. Bupp said. “So it’s not crazy rare. But a lot of different genes can cause it.”

There are over 10 genes known to cause this syndrome, likely with more to be discovered, Dr. Bupp said.

“It was great to have an answer,” Jade said. “The test was done on a Friday and we had results on Monday. Not knowing what was wrong with Hazel was one of the hardest things my husband and I have been through.”

Learning about Noonan syndrome helped put them at ease, Jade said.

“We were able to start understanding Hazel’s disorder and determined the necessary course of follow-up treatment,” she said.

Quick access to genetic testing has helped make these outcomes possible.

This is particularly valuable for families of patients who have rare conditions. Once-elusive answers can often be pinned down in short order.

“The puzzle pieces made sense now, but it didn’t make sense right off the bat,” Dr. Bupp said.

“Hazel was one of those kids who, when we get results from the genetic test, it’s like an ‘aha’ moment,” he said. “Not every patient reads like a textbook or presents the same way. And that’s where genetics comes in—it helps us see those things we didn’t expect.”

With a diagnosis, doctors were also able to send Hazel home sooner, Dr. Bupp said.

“We were able to move her treatment to outpatient care,” he said. “This got her out of the hospital faster, saved time and money on procedures and limited time the family needed to spend away from home.”

Dr. Bupp calls it a triple win.

“It’s good for patients and families, good for medical teams, and good for the cost of medical care,” he said.

Today, Hazel is a happy girl with bright blue eyes and a smile that will light up the room. She is saying “hi” and “mama” already and her vocabulary will no doubt grow quickly.

She loves peanut butter and jelly and playing with her siblings, Olivia and Soren. They have their own bounce house in the front yard, and neighborhood friends stop by regularly to play.

Hazel took her first steps at 17 months old and she’s now walking on her own and keeping her parents busy.

This summer, Jade and Logan also celebrated the birth of their baby boy, Rowen Cade O’Brien.

Hazel now has another sibling to play with.

And she routinely meets with the cardiology team at the congenital heart center, where doctors can monitor her heart condition.

“We are beyond thankful for Hazel and can’t imagine our lives without her,” Jade said. “The care we received at Helen DeVos Children’s Hospital has been extraordinary. … We are forever grateful to everyone involved.”





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