Logan and Jade O’Brien knew one thing was fallacious when their child Hazel was born. She didn’t cry and her pores and skin seemed purple. (Taylor Ballek | Spectrum Well being Beat)
A nurse within the supply room at Spectrum Well being Helen DeVos Kids’s Hospital supplied calming reassurance. “I didn’t actually know what was occurring,” Jade mentioned. “All I knew was that this was out of the bizarre.” (Taylor Ballek | Spectrum Well being Beat)
After what felt like an eternity, Hazel lastly set free a cry. “It was such blessing to listen to,” Jade mentioned. “However there was nonetheless one thing fallacious. Her pores and skin was sinking deep into her chest cavity with each inhale, after each scream.” (Taylor Ballek | Spectrum Well being Beat)
Jade and Logan quickly met with Caleb Bupp, MD, division chief for medical genetics at Spectrum Well being. “I knew we would wish speedy entire genome testing on her,” Dr. Bupp mentioned. “There have been too many questions we didn’t have solutions for.” (Taylor Ballek | Spectrum Well being Beat)
A genetic blood check quickly revealed the basis reason behind Hazel’s coronary heart defects—Noonan syndrome, attributable to a uncommon RIT1 gene mutation. It’s a dysfunction that includes uncommon facial traits, brief stature, coronary heart defects at delivery, bleeding issues, and developmental delays. (Taylor Ballek | Spectrum Well being Beat)
At a current go to, Julie Sommerfield, MD, a pediatric heart specialist checked on Hazel. (Taylor Ballek | Spectrum Well being Beat)
Logan needed to work throughout Hazel’s appointment, so Jade contacted him on FaceTime so he may take part. (Taylor Ballek | Spectrum Well being Beat)
There are over 10 genes identified to trigger Noonan syndrome, doubtless with extra to be found, Dr. Bupp mentioned.(Taylor Ballek | Spectrum Well being Beat)
“It was nice to have a solution,” Jade mentioned. “The check was completed on a Friday and we had outcomes on Monday. Not figuring out what was fallacious with Hazel was one of many hardest issues my husband and I’ve been by way of.” (Taylor Ballek | Spectrum Well being Beat)
Studying about Noonan syndrome helped put them comfortable, Jade mentioned. “We had been in a position to begin understanding Hazel’s dysfunction and decided the required course of follow-up remedy,” she mentioned. (Taylor Ballek | Spectrum Well being Beat)
Hazel loves taking part in along with her siblings, Olivia and Soren. They’ve their very own bounce home within the entrance yard, and neighborhood buddies cease by often to play.(Taylor Ballek | Spectrum Well being Beat)
Fast entry to genetic testing has helped households work out the unknown. That is significantly beneficial for households of sufferers who’ve uncommon situations. (Taylor Ballek | Spectrum Well being Beat)
Hazel took her first steps at 17 months outdated and is now strolling on her personal and retaining her mother and father busy. (Taylor Ballek | Spectrum Well being Beat)
As we speak, Hazel is a cheerful woman with vivid blue eyes and a smile that can gentle up the room. “We’re past grateful for Hazel and may’t think about our lives with out her,” Jade mentioned. (Taylor Ballek | Spectrum Well being Beat)
The second their little child, Hazel, got here into this world, Logan and Jade O’Brien knew one thing was fallacious.
Hazel didn’t cry or make any of the sounds a brand new child may make at delivery. She was utterly silent.
Her pores and skin had a purplish hue, too.
When the care staff briefly took Hazel off to the facet—as a substitute of inserting her on Jade’s chest, as had been completed when her older two youngsters had been born—Jade started to fret.
A nurse within the supply room at Spectrum Well being Helen DeVos Kids’s Hospital supplied calming reassurance.
“I didn’t actually know what was occurring,” Jade mentioned. “All I knew was that this was out of the bizarre.”
She remembers watching because the nurses and Logan gathered round Hazel. Her husband appeared to be holding his breath.
“His shoulders had been so tense,” Jade mentioned. “And I nonetheless hadn’t heard Hazel make a noise—not even a squeak.”
After what felt like an eternity, Hazel lastly set free a cry.
“It was such blessing to listen to,” Jade mentioned. “However there was nonetheless one thing fallacious. Her pores and skin was sinking deep into her chest cavity with each inhale, after each scream.”
When Hazel quieted a bit, the nurses positioned her on Jade’s chest. It gave mother and new child a treasured second to attach, if solely briefly.
The nurses whisked Hazel off to the Gerber Foundation Neonatal Center at Spectrum Health Helen DeVos Children’s Hospital, the place she spent 13 days present process remedy for feeding difficulties and respiratory points.
She had an echocardiogram, too, which revealed a number of coronary heart defects.
When her mother and father may lastly feed her with out help from the care staff, the household returned to their dwelling in Ludington, Michigan.
However that, too, can be a brief respite.
‘Nice to have a solution’
A number of 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 Kids’s Hospital.
Medical doctors wished to determine the reason for Hazel’s arrythmia and coronary heart defects. They admitted her to the hospital to bear an in depth analysis with staff members in cardiology, rheumatology and genetics.
Jade and Logan quickly met with Caleb Bupp, MD, division chief for medical genetics at Spectrum Health.
“I knew we would wish speedy entire genome testing on her,” Dr. Bupp mentioned. “There have been too many questions we didn’t have solutions for.”
A genetic blood check quickly revealed the basis reason behind Hazel’s coronary heart defects—Noonan syndrome, attributable to a uncommon RIT1 gene mutation.
Noonan syndrome is a dysfunction that includes uncommon facial traits, brief stature, coronary heart defects at delivery, bleeding issues and developmental delays.
“It’s linked to one of many extra vital genetic pathways within the physique,” Dr. Bupp mentioned. “So it’s not loopy uncommon. However loads of totally different genes may cause it.”
There are over 10 genes identified to trigger this syndrome, doubtless with extra to be found, Dr. Bupp mentioned.
“It was nice to have a solution,” Jade mentioned. “The check was completed on a Friday and we had outcomes on Monday. Not figuring out what was fallacious with Hazel was one of many hardest issues my husband and I’ve been by way of.”
Studying about Noonan syndrome helped put them comfortable, Jade mentioned.
“We had been in a position to begin understanding Hazel’s dysfunction and decided the required course of follow-up remedy,” she mentioned.
Fast entry to genetic testing has helped make these outcomes attainable.
That is significantly beneficial for households of sufferers who’ve uncommon situations. As soon as-elusive solutions can usually be pinned down in brief order.
“The puzzle items made sense now, but it surely didn’t make sense proper off the bat,” Dr. Bupp mentioned.
“Hazel was a kind of children who, once we get outcomes from the genetic check, it’s like an ‘aha’ second,” he mentioned. “Not each affected person reads like a textbook or presents the identical method. And that’s the place genetics is available in—it helps us see these issues we didn’t anticipate.”
With a prognosis, docs had been additionally in a position to ship Hazel dwelling sooner, Dr. Bupp mentioned.
“We had been in a position to transfer her remedy to outpatient care,” he mentioned. “This obtained her out of the hospital sooner, saved money and time on procedures and restricted time the household wanted to spend away from dwelling.”
Dr. Bupp calls it a triple win.
“It’s good for sufferers and households, good for medical groups, and good for the price of medical care,” he mentioned.
As we speak, Hazel is a cheerful woman with vivid blue eyes and a smile that can gentle up the room. She is saying “hello” and “mama” already and her vocabulary will little question develop rapidly.
She loves peanut butter and jelly and taking part in along with her siblings, Olivia and Soren. They’ve their very own bounce home within the entrance yard, and neighborhood buddies cease by often to play.
Hazel took her first steps at 17 months outdated and he or she’s now strolling on her personal and retaining her mother and father busy.
This summer season, Jade and Logan additionally celebrated the delivery of their child boy, Rowen Cade O’Brien.
Hazel now has one other sibling to play with.
And he or she routinely meets with the cardiology staff on the congenital coronary heart middle, the place docs can monitor her coronary heart situation.
“We’re past grateful for Hazel and may’t think about our lives with out her,” Jade mentioned. “The care we acquired at Helen DeVos Kids’s Hospital has been extraordinary. … We’re perpetually grateful to everybody concerned.”
