DiversityNursing Blog

'Miracle Baby' Eli Is One In 197 Million Born With Rare Facial Anomaly

Posted by Erica Bettencourt

Thu, Apr 02, 2015 @ 12:01 PM

By Michelle Matthews

Source: www.al.com

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Shortly before their baby, Eli, was born, Brandi McGlathery and Troy Thompson talked about the physical qualities they hoped he would possess.

"I said I wanted him to have blond hair," Brandi said. "And Troy said, 'I hope he doesn't get my nose.'"

At the time, it was just a joke between two parents anxiously awaiting their baby's arrival. After Eli was born, though, it became the kind of memory that now makes them wince at its irony.

When Eli was born at South Baldwin Hospital on March 4, weighing 6 pounds, 8 ounces, Dr. Craig Brown immediately placed him on Brandi's chest. As the doctor helped Troy cut the cord, Brandi looked at Eli for the first time.

"I pulled back and said, 'Something's wrong!' And the doctor said, 'No, he's perfectly fine.' Then I shouted, 'He doesn't have a nose!'"

The doctor whisked Eli away, and for about 10 minutes Brandi was left alone in the delivery room thinking surely she hadn't seen what she thought she saw - or didn't see.

When Dr. Brown returned, he put his arm on her bed and took a deep breath. "He had the most apologetic look," she said. She knew something was wrong with her baby. She started to cry before he said a word.

She looked to Troy, who, she said, never cries. He had tears in his eyes.

She'd been right. Eli didn't have a nose.

Meanwhile, he had started breathing through his mouth right away. She remembers that he was wearing a tiny oxygen mask. Not having a nose "didn't faze him at all," she said.

"I was the first person to see it," she said. "Even when they took him away, my family still didn't know something was wrong, due to being caught up in the excitement of his arrival. It wasn't until they opened the blinds of the nursery that everyone else saw."

Before she knew it, Eli was taken to USA Children's and Women's Hospital in Mobile. Throughout the night, Brandi called the number they'd given her every 45 minutes or so to check on her baby. She wasn't sure he would make it through the night -- but he did.

And her "sweet pea," her "miracle baby," has been surprising his parents and others who love him, as well as the medical staff who have cared for him, ever since.

Nothing unusual

The next day, her doctor checked her out of the hospital in Foley so she could be with her baby in Mobile. The doctor had also had a sleepless night, she said. "He said he'd gone back over every test and every ultrasound," but he couldn't find anything unusual in her records.

There were a few aspects of her pregnancy that were different from her first pregnancy with her 4-year-old son, Brysen.

Right after she found out he was a boy, at around 17 weeks, she said, she lost 10 pounds in eight days because she was so severely nauseated. Her doctor prescribed a medication that helped her gain the weight back and keep her food down. She continued to take the medication throughout her pregnancy, she said.

On a 3D ultrasound, she and Troy even commented on Eli's cute nose. The imaging shows bone, not tissue, she said - and he has a raised bit of bone beneath the skin where his nose should be.

After going into early labor three times, Brandi delivered Eli at 37 weeks. At 35 weeks, her doctor told her that the next two weeks would be critical to the development of the baby's lungs and respiratory system. "He said, 'Let's try to keep him in as long as we can,'" she remembered.

Happy, healthy baby

For the first few days of his life, Eli was in one of the "pods" in USA Children's and Women's Hospital's neonatal intensive care unit. At five days old, he had a tracheotomy. "He has done wonderfully since then," Brandi said. "He's been a much happier baby."

Because of the trach, he doesn't make noise when he cries anymore, so Brandi has to watch him all the time. She has been going back and forth between the Ronald McDonald House and Eli's room during his stay.

"Between the nurses here and Ronald McDonald House, everyone has gone above and beyond," she said. "The nurse from the pod comes to check on her 'boyfriend.' She got attached to him."

Besides not having an external nose, he doesn't have a nasal cavity or olfactory system. (Despite that fact, she said, he sneezes. "The first time he did it, we looked at each other and said, 'You heard that, right?'")

Eli Thompson has an extremely rare condition known as complete congenital arhinia, said Brandi, adding that there are only about 37 cases worldwide like his. The chance of being born with congenital arhinia is one in 197 million, she said.

Even at USA Children's and Women's Hospital, Eli's case has baffled the NICU. "Everyone has used the same words," Brandi said. As soon as they found out he was on his way, she said, the staff started doing research. They only found three very brief articles on the condition. Now, his doctors are writing a case study on him in case they ever encounter another baby like Eli.

After he got the trach, Brandi wanted to start breastfeeding. The lactation consultant encouraged her, and together they searched the Internet for more information. Brandi became the first mother ever to breastfeed a baby with a trach at the hospital, she said - and now the lactation consultant "is actually using him to put an article together about breastfeeding with a trach to encourage mothers of other trach babies to attempt it."

Thanks to her Internet research, Brandi found a mother in Ireland, Gráinne Evans, who writes a blog about her daughter, Tessa, who has the same condition as Eli. She also found a 23-year-old Louisiana native who lives in Auburn, Ala., and a 16-year-old in North Carolina, she said. With every case she found, Brandi started to feel better and more convinced that Eli could not only survive his babyhood, but that he'll grow to adulthood.

Communicating with Tessa's mother in Ireland has been especially gratifying for Brandi. She knows she and Eli are not in this alone.

'He's perfect'

While it would seem easy enough for a plastic surgeon to build a nose for Eli, it's not that simple, Brandi said. "His palate didn't form all the way, so his brain is lower," she said. "It's a wait-and-see game."

His condition affects his pituitary gland, she said. He'll have to be past puberty before his nasal passageways can be built. Until then, she'd like to spare him any unnecessary facial surgeries.

"We think he's perfect the way he is," she says, nodding toward the sweet, sleeping baby in his crib. "Until the day he wants to have a nose, we don't want to touch him. We have to take it day by day."

Within a month after Eli goes back home to Summerdale, he will have to travel to the Shriners Hospital for Children in Houston and Galveston, Texas, to meet with craniofacial specialists. "They will work with him for the rest of his life," she said. "Every three to six months, we'll be going back for scans and checkups for at least the next ten years."

Brandi said that, of the people she's found online, some are opting to have noses and nasal passageways built (including Tessa), while others haven't.

"We're going to do our best to make sure he's happy," she said. "The rest of him is so cute, sometimes you don't realize he doesn't have a nose."

Brandi's older son, Brysen, and Troy's four-year-old daughter, Ava, are too young to interact with Eli in the hospital. Brandi was grateful to one of the nurses who unhooked him and let the kids see him. "Ava asked me, 'When you were little, did you have a nose?'" Brandi said. "She said, 'I think he's cute.'"

Brysen pressed his hands against the window separating him from his baby half-brother and said, "He's perfect!"

'Facebook famous'

Brandi, who got pregnant with Brysen when she was a senior in high school, had planned to start going to school to become an LPN like Troy's sister and his mother. "That's all on the back burner now," she said. Because of her experience at USA Children's and Women's, she said she now wants to be a NICU nurse.

Her best friend, Crystal Weaver, logged onto Brandi's Facebook account and created the Eli's Story page to let friends and family members know what was going on. "It's easier that way to update everyone at once rather than to call everyone individually," Brandi said. "It's overwhelming. It's all on my shoulders." Within a day, she said, Eli's Story had 2,000 likes (it now has around 4,500). "People I didn't know were sending messages," she said.

Crystal also started a Go Fund Me account, which has raised about $4,300. "We've got years and years of surgeries and doctor's appointments nowhere close to us," said Brandi, who returned to her job as a bartender this past weekend. She plans to keep working two nights a week for a while. Being around her work family, she said, helps her maintain a sense of normalcy.

A fish fry is planned as a fundraiser for Eli's medical fund on April 11 at Elberta Park in Elberta, with raffles for prizes including a weekend stay at a condo in Gulf Shores and a charter fishing trip.

"It makes me feel really good that I have a support system," Brandi said. "Everybody's been awesome."

Updating Eli's page, adding photos and reading the positive, encouraging comments from hundreds of people, as well as reaching out to others who have been through what she's going through "keeps me sane," Brandi said.

Recently, Brandi posted a video of Eli waking up from a nap. From Ireland, Gráinne Evans commented: "I've actually watched this more times than I could admit!"

Eli is "100 percent healthy," she said. "He just doesn't have a nose. He has a few hormone deficiencies, but other than that he's healthy."

Brandi seems wise beyond her years. She is already worried about "the day he comes home and someone has made fun of his nose," she said. "We don't want anyone to pity him. We never want anyone to say they feel sorry for him. If other people express that, he'll feel that way about himself."

She jokes that Eli is "Facebook famous" now. "I can't hide him," said Brandi, who is a singer. "Eli's gotten more publicity in the past two weeks than I have in my whole life!"

She's been putting together a "journey book" full of medical records and mementoes to give Eil one day. "I'm excited to show him one day, 'Look, from the moment you were born people were infatuated with you.'"

'I'm doing something right'

In his short time on earth so far, Eli has brought his family together, Brandi said. She and Troy had been engaged, then called off the wedding and were "iffy," and then they broke up. A week later, she found out she was pregnant.

"Eli has made Troy my best friend," she said. "He has brought us closer than when we were engaged. To see Troy with him is really awesome."

Troy has been her rock, reassuring her since Eli was born, she said. "He tells me, 'Brandi, it's OK. It will end up happening the way it's supposed to be."

Last Thursday, Brandi posted on the Eli's Story page that Eli had passed his car seat trial and newborn hearing screening. "He now weighs 7 pounds, and we'll be meeting with home health to learn how to use all of his equipment so we can go home Monday."

Everyone in their family has taken CPR classes, and Brandi and Troy have learned how to care for Eli's trach. The couple has extended family nearby, and Troy's father and stepmother plan to move to Baldwin County from Mobile to be closer to Eli.

As she prepared to take her baby home from the hospital on Monday morning, almost four weeks since he came into the world, Brandi was excited to take care of him for the first time in the comfort of her own home, and to finally introduce him to his big brother and sister.

Though Brandi said her heart melts when Eli's little hand wraps around her finger, he's the one who already has her wrapped completely around his. He recognizes his parents' voices, and seems comforted by them. "As soon as he hears us, he looks around for us, finds us, then stares at us smiling," she said. "It makes me feel like I'm doing something right, that through the ten to twelve other women, the nurses who have been caring for him for the past month, he still knows who Mommy is!"

Topics: Nicu Nurse, infant, newborn, breastfeeding, baby, pregnancy, nurse, doctors, medication, hospital, treatment, NICU, rare, tracheotomy, Ronald McDonald House, children's hospital, nose, delivery room, facial, trach, congenital arhinia

Ultrasounds Show Fetuses React To Mothers' Smoking

Posted by Erica Bettencourt

Wed, Mar 25, 2015 @ 04:30 PM

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The impact of a mother's smoking can be seen on the face of her unborn baby, new research suggests.

Scientists at Durham and Lancaster Universities in England performed high-definition 4-D ultrasound scans on fetuses between 24 weeks and 36 weeks gestation and spotted distinctive differences in those whose mothers smoked. They say their findings add to the evidence that smoking may harm a developing fetus.

"Technology means we can now see what was previously hidden, revealing how smoking affects the development of the fetus in ways we did not realize," co-author Brian Francis, a professor at Lancaster University, said in a press statement.

The study, published in the journal Acta Paediatrica, involved 20 pregnant women; four were smokers who averaged about 14 cigarettes a day, and 16 were non-smokers. Each woman underwent four ultrasound scans over a three-month period.

The researchers say the fetuses whose mothers smoked showed a much higher rate of mouth movements, suggesting that their central nervous systems, which control such movement, did not develop at the same rate and in the same manner as the fetuses of non-smokers.

"Fetal facial movement patterns differ significantly between fetuses of mothers who smoked compared to those of mothers who didn't smoke," said lead author Dr Nadja Reissland, of Durham University's Department of Psychology.

"Our findings concur with others that stress and depression have a significant impact on fetal movements, and need to be controlled for, but additionally these results point to the fact that nicotine exposure per se has an effect on fetal development over and above the effects of stress and depression."

All of the babies involved in the study were born healthy. The Centers for Disease Control and Prevention warns that smoking during pregnancy increases the risk of preterm delivery and low birthweight, which can lead to a range of health problems. 

Previous studies have found that infants exposed to smoking in utero have delayed speech processing abilities, and the researchers say the ultrasound scans may shed light on that aspect of development. 

"This is yet further evidence of the negative effects of smoking in pregnancy," Francis said.

The researchers say more studies are needed, including a look at the impact fathers' smoking may have on their unborn children.

Source: www.cbsnews.com

Topics: smoking, mother, infant, newborn, pictures, fetus, ultrasounds

See What Extremely Rare, Nearly 14-Pound Newborn Looks Like

Posted by Erica Bettencourt

Mon, Dec 08, 2014 @ 02:31 PM

By GILLIAN MOHNEY

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A Colorado family welcomed a larger-than-expected bundle of joy when their newborn daughter was born weighing almost 14 pounds.

Mia Yasmin Hernandez tipped the scales at 13 pounds, 13 ounces after her delivery Monday at San Luis Valley Hospital in Alamosa, Colorado. The newborn’s father, Francisco Garcia, said doctors had estimated the baby would weigh 8 pounds at birth.

Mia didn't seem especially large when she was born, Gracia said.

“She was swollen and everything” after delivery, he said. “I thought she was going to [weigh] 10 or 11 pounds.”

But after weighing Mia, the nurse told Garcia the infant’s weight.

“I was like, ‘Whoa, she’s the biggest baby I’ve ever seen,’” Garcia told ABC News.

Even hospital personnel agreed. Garcia said the nurse told hi she’d never seen “a baby that big.”

Dr. Robert Barbieri, chief of obstetrics and gynecology at Brigham and Women’s Hospital in Boston, said in a previous interview about one out of 1,000 babies could weigh 11 pounds, and one out of every 100,000 could weigh 14 pounds. A 14-pound baby, he said, is extremely rare, because usually a doctor will induce labor if a baby appears oversize.

While Mia’s delivery via Caesarean section went smoothly, the infant developed breathing problems and was eventually moved to Children’s Hospital of Colorado in Aurora, Colorado, according to Garcia.

Garcia said Mia is on oxygen and doing well, although they’re not sure when she will get home.

Garcia said the couple has another four daughters at home, which might come in handy for new baby clothes.

“We bought her a lot of stuff like a newborn cap and pampers,” Garcia said. “They don't fit her. She’s too big.”

Source: http://abcnews.go.com

Topics: infant, newborn, 14-pounds, health, healthcare, baby, nurses, doctors, medical, hospital

The orb speaks for infants

Posted by Alycia Sullivan

Mon, Jul 15, 2013 @ 03:13 PM

If Martin Schiavenato, RN, PhD, were to gaze into a crystal ball, he would envision a future in which patients no longer experience pain or suffering. 

Schiavenato, who until recently was an assistant professor at the University of Miami School of Nursing and Health Studies, has spent the past several years working with a team of medical engineers to create an orb-like device that has the ability to assess pain in premature infants. Theorb
device, which resembles a crystal ball, uses sensors to monitor a patient’s behavioral and physiological signs of pain. By notifying clinicians of a patient’s pain level, Schiavenato hopes his device will lead to better pain management practices.

"I remember looking at the polygraph test administered by law enforcement professionals and wondering how it was possible that we could detect when a person was lying, but not when they were in pain," he said.
While Schiavenato’s invention still needs to undergo additional testing, it shows great promise detecting pain both in infants and in nonverbal patients, such as intubated patients or those who suffer from cognitive impairment.

"Assessing pain in infants has always been one of the most difficult challenges for clinicians," Schiavenato said. "Premature infant pain responses are unique and different from those of an adult."

As a result, Schiavenato says, pain has often been undertreated in infants, with many clinicians fearing the adverse effects of analgesics, such as morphine, and weighing the risks of these medications against the potential advantages. 

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"Until recently, it was believed that neonates didn’t feel pain," Schiavenato said.

While clinicians have walked a fine line as they determine how to treat pain in infants, Schiavenato says there is evidence that failing to treat their pain early can lead to significant and long-lasting physiological consequences. These can include hypersensitivity to pain, a reduced immune system response, and even long-term disabilities and developmental delays. 

Schiavenato’s own interest in how pain is managed in infants began 18 years ago when he was working as a nurse in the NICU of a Tallahassee, Fla., hospital. One of his young patients had a rare and painful genetic disease that caused her skin to blister and slough off. The baby died several days after birth but left a lasting impression on Schiavenato.

"When it was time for me to choose a specialty, I decided to work to alleviate pain in infants," he said.

Schiavenato, who has a PhD in nursing and innovative technologies, joined the faculty at the University of Rochester (N.Y.), where he worked to develop a scale that enables providers to better assess pain in preschool-aged children. In 2009, Schiavenato was awarded an RWJF Nurse Faculty Scholars award to support the invention of his device. 

Today, a patent is pending for the orb device, which uses a computer chip to interpret a patient’s pain signals. Leads are placed over an infant’s chest to calculate heart-rate variability in response to distress, while another sensor is placed in the palm of the hand to record an instinctive finger-splaying response to pain. A third sensor monitors facial responses to pain. The computer then calculates the subject’s pain levels and displays the findings on a glass orb that can turn various colors to reflect the patient’s pain levels.

While Schiavenato noted his device also has the ability to work on non-verbal children and adults, he says the parameters and sensors would vary according to the age and condition of patients. 

Now an associate professor at Washington State University College of Nursing in Spokane, he also is working on fine-tuning many of the device’s characteristics, such as how the orb changes colors based on a patient’s pain levels. 

"Clinicians will be able to set a patient’s baseline color and note changes in color to determine if pain increases," he said.

He continues to test the device, but said he would love to see his device brought to market by a medical supply company.

"Twenty-plus years ago, open-heart surgery was being performed on infants without any pain meds," Schiavenato said. "We’ve come a long way since then, and hopefully in the future, we will have an even better handle on how to effectively manage pain in all patients."  

Source: Nurse.com

Topics: infant, pain analysis, Martin Schaivenato, patient assessment

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