‘Puzzle Piece Made Sense’ | health beat | Health Advice

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

Hazel neither cried nor made any sound that a newborn baby can make at birth. She was completely silent.

His skin color was also purple.

When the care team briefly took Hazel to the side – instead of placing her on Jade’s chest, as was the case with the birth of her older two children – Jade began to worry.

A nurse assures calm in the delivery room of Spectrum Health Helen DeVos Children’s Hospital.

“I really didn’t know what was going on,” Jade said. “I only knew it was out of the ordinary.”

She remembers when the nurses and Logan gathered around Hazel. It was as if her husband was holding her breath.

“His shoulders were under a lot of tension,” Jade said. “And I had not yet heard Hazel make a noise – not even a squeak.”

After what felt like an eternity, Hazel finally gave up on crying.

“It was such a blessing to hear that,” said Jade. “But there was still something wrong. His skin was sinking deeper into his chest cavity with every breath, after every scream.”

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

The nurses drive away Hazel Gerber Foundation Neonatal Center Feather Spectrum Health Helen DeVos Children’s HospitalWhere he spent 13 days for treatment of difficulty in eating and breathing problem.

She also had an echocardiogram, which revealed multiple heart defects.

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

But that too will be a bit of a relief.

‘It’s good to answer’

A few weeks later, O’Briens had a follow-up appointment with pediatricians. Carl and Patricia Betz Congenital Heart Center At Helen DeVos Children’s Hospital.

The doctors wanted to identify the cause of Hazel’s arrhythmia and heart defect. He admitted her to the hospital for a comprehensive evaluation with team members in cardiology, rheumatology and genetics.

Jade and Logan meet soon Caleb Bup, MDfor divisional chief medical genetics Feather spectrum health,

“I knew we would need rapid whole-genome testing on that,” Dr. Bupp said. “There were so many questions that we didn’t have the answers to.”

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

Noonan syndrome is a disorder characterized by abnormal facial features, short stature, heart defects at birth, bleeding problems, and developmental delay.

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

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

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

Learning about Noonan syndrome helped him relax, Jade said.

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

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

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

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

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

Even with a diagnosis, doctors were soon able to send Hazel home, Dr. Bupp said.

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

Dr. Bapp has called it a triple victory.

“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 cheerful girl with bright blue eyes and a smile that will light up the room. She’s already saying “hi” and “mama” and undoubtedly her vocabulary will grow exponentially.

She likes peanut butter and jelly and plays with her siblings, Olivia and Soren. He has his own bounce house in the front yard, and friends from the neighborhood stop by regularly to play.

Hazel took her first steps at the age of 17 months and is 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 one more sibling to play with.

And she regularly meets with the cardiology team at the Congenital Heart Center, where doctors can monitor her heart condition.

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

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