By Maureen Gilmer, IU Health senior journalist, firstname.lastname@example.org
Hazel Grace Smith is a true miracle baby. She really shouldn’t be here.
Her parents will tell you that. Even her doctors and nurses are amazed.
Yet the 6 ½-pound bundle is here – squirming in her bed at Riley Hospital for Children while NICU nurse Dana Realey comes in to check on her.
“She’s come a long way,” Realey says. “Hazel is a good girl.”
Calvin and Ashley Smith have to pinch themselves every day to remind themselves that their little girl, who defied every prediction while in the womb, is here today.
That’s because eight weeks into her pregnancy, Ashley got the first hint that there was a problem. An ultrasound revealed the little bean of a baby, but there was something else – a mass that didn’t belong there. Her doctor in Vincennes, Indiana, suggested it might be a blood clot outside the placenta and told her to come back in two weeks for another ultrasound.
When she returned, the mass was bigger. She was referred to a hospital in Evansville, where another ultrasound showed what looked like three or four blood clots.
“Every week I went back for ultrasounds and every week it got worse,” she said. “The mass kept getting bigger.”
Then came a devastating diagnosis: Your baby has Triploid syndrome, the couple was first told. The rare chromosomal abnormality yields an extra set of chromosomes in the cells. A typical baby is born with 46 chromosomes. A baby with Down syndrome has 47 chromosomes. A triploidy baby has 69 chromosomes. Babies with this condition typically might survive outside the womb for a few hours up to a few months.
“We cried every day,” Ashley said.
Every week they were asked if they wanted to terminate the pregnancy, and every week they said no.
“On the ultrasound we could see a baby, we could hear a heartbeat,” Ashley said. “The baby has two arms, two legs, a nose and a face, and it’s moving around, doing everything a normal baby would do. It wasn’t making sense in my mind.”
Still, they prepared for the worst.
“The doctors told us ‘you’re not going to make it past week 12.’ Then it was, ‘you’re not going to make it past week 16.’ We’d go home thinking I was going to miscarry anytime.”
At 18 weeks, they got incredible news. Their doctor in Evansville called with the results of an amniocentesis revealing that while there were still plenty of questions, their baby in fact had 46 chromosomes and that it was a girl. Ashley gets emotional when she tells this part of the story.
“So we knew then that she wasn’t just this clump of cells. She was a baby and she was a she!”
She called her husband, an Illinois State Police trooper, and told him, “We’re gonna have a little girl. We’re having a baby!”
It was about that time when the couple decided to come up to IU Health to get more answers. Genetic testing revealed an anomaly, but further testing indicated that Calvin had the same genetic anomaly and it had not affected him. Doctors were baffled.
There would be more ups and downs, more tests, more heartache, but Ashley said Dr. Frank Schubert with IU Maternal Fetal Medicine assured them that they would figure it out together.
“It was the worst emotional roller coaster you could ever ride,” the young mom said.
But she and Calvin held on tight through it all, leaning on each other.
EARLY CHRISTMAS BABY
It wasn’t long before Ashley was admitted to IU Health Methodist Hospital with pre-eclampsia in early November. She would remain there for six weeks until Hazel was born Dec. 17 at 31 weeks and five days. The baby weighed 2 pounds 6 ounces and measured at just 27 to 28 weeks, even though she was born at close to 32 weeks.
Turns out, Ashley was experiencing what they believe was a partial molar pregnancy. In a molar pregnancy, the fetus does not develop at all. It usually occurs when an egg that does not contain any genetic information is fertilized by a sperm. In a partial molar pregnancy, a fetus can develop but it typically will be abnormal and cannot survive. A partial molar pregnancy with a live fetus occurs in just 0.005 to 0.01% of all pregnancies.
In Ashley’s case, her baby developed, but the placenta was wildly abnormal. It looked like a mushy sack of grapes and it weighed 4 pounds, nearly four times as much as a typical placenta. That was the mass originally picked up on ultrasound, the same mass that yielded the triploidi (69 chromosomes) diagnosis. A normal placenta looks like a round steak – small and solid, Ashley said. Hers was soup-like; a delivery nurse said it felt like a clump of brown sugar that was falling apart between her fingers.
Doctors theorize that there was a molar twin that morphed into that abnormal placenta, but how Hazel survived without proper nutrition from a healthy placenta is a mystery.
“It makes sense that there was possibly a twin, but we’ll never know,” Ashley said. And that’s OK with her. “I could have had a full molar pregnancy and no baby. Babies are miracles, and she is the biggest miracle of all.”
“BIT OF A MYSTERY”
Dr. Schubert acknowledges Ashley’s case is “a bit of a mystery” still. “I think it is quite amazing that she was able to continue her pregnancy as long as she did. There was a lot of risk.”
The presumed diagnosis, he said, was “placental mosaicism with partial mole in placenta.” One is rare enough, “but I have never seen it with the mosaicism being partial mole.”
The diagnosis has not yet been confirmed, though his suspicion for it remains high, he said.
“At the delivery, the placenta looked like a molar pregnancy placenta, but the genetics that were done did not confirm this. Either way, it was a very abnormal placenta. Hazel was very small and preterm, so she has had an uphill battle, but I am glad she is doing well so far.”
p>Describing her daughter as an overachiever after tripling her birth weight, Ashley said, “She’s been a big old fighter throughout this whole thing.”
Named for Calvin’s great aunt, who is as feisty and hard-headed as they come, Hazel seems to be made of the same sturdy stock.
“The nurses say she is feisty, she’s a fighter and tries to help them,” Ashley said.
Hazel appears to be doing just that as her nurse gets her ready for her feeding. Her eyes are open and her tiny hands wiggling as she watches Realey adjust her wires. Hazel has been intubated most of the time since birth, but later in the day she would finally get the breathing tube removed from her throat and her parents would be able to see her whole face for the first time since right after her birth. Soon, they hope to begin weaning her off of oxygen and working with her to start feeding on her own.
Riley neurosurgeon Dr. Katrina Ducis has been monitoring Hazel’s progress since even before her birth, noting that the baby’s pituitary gland is out of position and she has some extra fluid in her brain, but she hasn’t needed to do any surgery yet.
“She was very reassuring about everything, even though some things we don’t know yet,” Ashley said. “She said, ‘We’re going to figure this out together. We’ve got options.’”
Dr. Ducis said Ashley and Calvin are “the perfect, loving family for Hazel,” absorbing all of the information about her condition and taking things in stride.
“Following Hazel’s birth, they have been by her side and celebrating milestones, including her recent graduation from the breathing tube,” the surgeon said. “Ashley and Calvin were infectiously excited following that victory, despite knowing it was not her last hurdle.”
Involved parents make a world of difference to a NICU baby, says nurse Realey.
“I expect my parents to know their children when they leave. That’s the only way it works,” she said. “They have to be involved.”
She laughs when Ashley and Calvin joke that they would like to take her with them when Hazel goes home.
“I give you everything I have so you have a little part of me,” she said.
Ashley and Calvin, who live 2 ½ hours away, typically spend part of the week at Riley and part of the week at home with their 18-month-old daughter. They rely on the NICVIEW camera positioned above Hazel’s crib to stay close even when they are far away. On the nights when Ashley is away from Riley, she puts her older daughter in her lap, pulls up the camera app and reads a book to them both. Even when she’s just next door at the Ronald McDonald House, she checks on her baby.
“I use that thing day and night. I woke up three times last night and looked at her.”
Even when she’s not using it, she gets screenshots of her baby from aunts, cousins and other family members who are watching Hazel from afar.
The Smiths know that theirs has been an unusual journey, but they hope that by sharing their story and allowing all of the testing that they endured, doctors can begin to piece together the puzzle of Hazel’s development and birth.
“I want them to have more answers for the next set of parents who come through here,” Ashley said. “We know as much as we need to know.”
And what they know is that their baby has already defied the odds.
“She is our miracle baby.”
Photos by Mike Dickbernd, IU Health visual journalist, email@example.com