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Doctors successfully treat Riverhead newborn with life-threatening birth defect

At 9:21 a.m. on Oct. 25, 2018, Juan Pablo Privado-Yanes was born at Peconic Bay Medical Center.

But in an instant, the infant was fighting for his life.

“I dreamt of having my baby,” said Juan Pablo’s mother, Norma Enriqueta-Yanes of Riverhead. “As soon as I had him, [doctors] had to take him away. At that moment, as a mother, I didn’t have him right there with me — so I didn’t feel like I just had a baby.”

Juan Pablo was diagnosed with a life-threatening medical defect known as congenital diaphragmatic hernia, which occurs once in every 2,400 to 3,400 births in the United States and Europe, according to Dr. Patricia Mele, director of perinatal-neonatal services at PBMC.

A congenital diaphragmatic hernia is a defect in the diaphragm, she said. It made Juan Pablo’s intestines rise up into his chest and shift the heart and the one lung to one side of the body.

If not addressed quickly and efficiently, the defect can be fatal.

“It’s not just that his intestines were up in his lungs,” Dr. Mele said, “but his lungs could be undeveloped and cause pulmonary hypertension, or a lack of blood flow.”

Newborns with the defect face a mortality rate of 50 percent if not treated immediately. In prior years, PBMC would not have been equipped to administer treatment promptly. But thanks to recent upgrades in the hospital’s obstetrics unit and addition of new doctors, Juan Pablo’s road to recovery began immediately.

Dr. Scott Berlin, chairman of PBMC’s obstetrics and gynecology unit, works alongside Dr. Mele. If babies are diagnosed with the defect prior to birth, he said, it’s recommended that they be delivered at a tertiary care center — a hospital for complex medical and surgical interventions. But Juan Pablo’s defect wasn’t diagnosed until he was out of the womb.

“Sometimes it’s picked up earlier on a high-level ultrasound, but if it’s a small defect, you don’t always see it,” Dr. Berlin said.

Dr. Mele said that if Juan Pablo had been diagnosed in utero, Ms. Enriqueta-Yanes would have been referred to Cohen Children’s Medical Center, a pediatric hospital also in the Northwell Health network. The hospital specializes in pediatric care for newborns born prematurely or with critical conditions.

In the delivery room at PBMC, a nurse picked up on symptoms of respiratory distress and brought Juan Pablo to the nursery. After a pediatrician examined him and requested a consult, which included monitoring the baby’s oxygenation, an X-ray revealed the defect, Dr. Mele said.

Ms. Enriqueta-Yanes, who legally immigrated to the United States from El Salvador last year, said it was challenging to allow the doctors to take her baby away from her, especially given her husband’s permanent residence in El Salvador — but her faith in God helped her along the way.

“I knew that God had a reason for this,” she said in Spanish through an interpreter. “I knew if something happened, God was going to take matters into his own hands. My faith went first to God, and then into the work that the doctors were going to do with my baby.”

Juan Pablo remained at PBMC for several hours. A tube was placed in his stomach to compress his intestines, a ventilator was placed on him and a tube was inserted into his trachea and a ventilator was placed improve air flow. As doctors monitored his blood pressure and blood gas, he received fluids.

The infant was then transported to Stony Brook University Hospital, the closest tertiary care center, Dr. Mele said.

“It’s a whole vicious cycle,” she said.

Ms. Enriqueta-Yanes, 35, was discharged from the hospital the day after giving birth and visited Juan Pablo the following day.

“The first impression I received — seeing him so defenseless, connected to all these tubes — was very shocking. It was difficult to see him in that state, but again, I believe in God, and I knew he was going to take care of him,” she said.

After four days in Stony Brook’s intensive care unit, Juan Pablo underwent surgery related to the defect, his mother said.

“This is a little, tiny baby, he’s so small — it was difficult to see,” she said.

But only 15 days after his birth, Juan Pablo was discharged from Stony Brook. With the support of Ms. Enriqueta-Yanes’ brother, Wilfredo Yanes of Riverhead, and support from doctors at Stony Brook and PBMC, Juan Pablo made a speedy recovery, she said.

“He’s very strong now,” she said. “For a first-time mom, who recently came into this country, the treatment has been excellent.”

Dr. Berlin said PBMC wouldn’t typically offer treatment to an infant with a congenital diaphragmatic hernia, but that adding experienced medical specialists like himself and Dr. Mele has allowed the hospital to expand services in Riverhead. 

“We’re trying to bring the services here so we don’t have to transport patients, babies, moms, fathers, out of the area,” he said. “It’s hard separating families. It’s better if you can keep everything centralized in one hospital, but obviously not every hospital has the same care.” 

Dr. Mele said PBMC is invested in bringing in clinicians with specific skills to diagnose and treat patients inside and outside the new obstetrics unit. On Feb. 6, a ribbon cutting will take place for the hospital’s new Labor and Delivery OR.

In December 2018, the hospital opened a new section of the obstetrics unit for patients requiring cesarean sections. That unit operates around the clock and has obstetrical and anesthesia coverage in-house. In the near future, PBMC will also provide advanced neonatal coverage, which brings in specialty care providers for high-risk pregnancies.

“Because of such investments, we can share stories like the success story of Juan Pablo,” Dr. Mele said.

Ms. Enriqueta-Yanes said the experience was a test for her as a mother. 

“As a mother, you want the best for your child,” she said. “If this test that was … done to another mother and baby, they wouldn’t have had the strength. I feel like God doesn’t give us any difficulty that we cannot surpass.”

Corrections: The medical defect occurs once in every 2,400 to 3,400 births, not 24,000 to 34,000. A description of the hernia should have said decompressing the intestines, not compressing a lung.

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Photo caption: Dr. Scott Berlin of Peconic Bay Medical Center (left), Wilfredo Yanes, Norma Enriqueta-Yanes, Juan Pablo and Dr. Patricia Mele of PBMC celebrate the newborn’s recovery after he was diagnosed with a life-threatening defect just after birth. (Kate Nalepinski photo)