Daniel and Marianna Freink “thought everything was perfect’’ about their newborn daughter.
“She was born a healthy baby,’’ said Daniel, affirming the normalcy of the Brookline couple’s first few weeks as the parents of Simona about a year ago. “And every checkup they do after delivery, she passed with flying colors. Everything looked great.’’
When Simona was little more than a month old, they noticed her skin was starting to turn yellow.
Her pediatricians said it was probably breast milk jaundice, a typical condition for breast milk-fed babies that isn’t dangerous. Another week passed, and Simona wasn’t getting any better, so her doctor decided to send her in for some labs
It was Marianna’s birthday when they received her official diagnosis, in September. Simona, the youngest of the couple’s two daughters, had biliary atresia, a life-threatening and rare liver condition that occurs in 1 out of every 18,000 babies.
“Our entire world crashed,’’ said Daniel.
Not many medical professionals have ever seen the condition, which is why Simona’s diagnosis wasn’t immediately apparent to her pediatrician. There is no cure.
Biliary atresia typically manifests itself when infants are two to eight weeks old. Simona’s liver couldn’t secrete bile to the gallbladder, and the bile was killing liver cells from the inside. Babies with the condition typically experience a yellowing of the skin and eyes, hardened liver, swollen abdomen, and discolored stool and urine. If this condition plays out, the ultimate result is liver failure, and often, death.
There was little time to waste. A few days after the diagnosis, while still processing their baby’s life-threatening condition, Daniel and Marianna found themselves awaiting the outcome of surgery for Simona at Boston Children’s Hospital. Even in a place that specializes in treating sick children, there are limits to what comfort a hospital can offer parents when it’s their child who is sick.
The only treatment, other than a full liver transplant, was a surgery called the Kasai procedure, which reroutes the anatomy of part of the baby’s digestive tract. The procedure is intended to alleviate what was happening in Simona’s liver by attaching it to her intestine. There was a 30 percent chance it could work.
“We were lucky that the surgeon who does these procedures was available, and it’s lucky we live in Boston, because only a few are qualified to do these surgeries,’’ Daniel said, speaking of Dr. Heung Bae Kim, Simona’s surgeon at Children’s.
After spending a day recovering in the ICU, Simona was sent home four days later without complications. Every day, Daniel and Marianna obsessively checked their baby’s symptoms for some indication that the procedure worked.
Unfortunately, it didn’t. Simona’s condition wasn’t improving, and it was becoming clear she needed a liver transplant.
“That was the darkest time of the whole process,’’ said Daniel.
Although she was assigned to the donor list, which is prioritized by the severity of the case, the likelihood of a transplant in enough time to save Simona was very small, because she herself was so small.
“Dan’s daughter was 13 pounds when she was on the transplant list. The issue with very small babies is that fortunately—and unfortunately—there aren’t that many small babies that die who can be organ donors,’’ said Dr. Elizabeth Pomfret, who worked on the Freinks’ case. She is chair of the Department of Transplantation at Lahey Hospital and Medical Center in Burlington.
As of July 17, 47 children under one year were waiting for a liver donation nationwide, according to the United Network for Organ Sharing. That’s compared to a total of 1,795 pediatric patients, for whom the most common reason for a liver transplant in children is biliary atresia. For perspective, in 2014 only 280 children waiting on the list received any organ transplants, including liver, kidney, pancreas, heart, lungs, and intestine.
The highest likelihood of dying on a transplant wait list is for babies less than a year old, Pomfret said. The Freinks had hoped the Kasai surgery would buy them some time, but Simona’s liver kept failing. “There were no offers…they realized that they may never get an offer in time for their baby,’’ she said.
A “miraculous turn of events.’’
It was November. Consumed with worry about whether or not Simona would receive a donation in time, the Freinks began actively pursuing the live donor option.
When Daniel offered himself up as a candidate, doctors were skeptical. At 6-foot-7, Daniel’s massive frame made it extremely unlikely that the portion of his liver they needed would be small enough to fit Simona’s body.
“He is gigantic, and when we’re talking about taking a portion of the adult’s liver, there are places where you can divide the liver and have it work appropriately,’’ said Pomfret. “Even though we would be taking the smallest amount, we were concerned at that height that would be enormous for the baby.’’
It was December 16 when Daniel had his first appointment scheduled at Lahey to begin the process to become a donor. The first night of Hanukkah began at sundown. Not a religious family, Daniel and Marianna would describe themselves as “culturally’’ Jewish. Typically, they host and attend parties at this time of year, lighting the traditional candle for the menorah at sunset. But this wasn’t a typical year.
“We started Hanukkah thinking she has a small chance to live and no way out,’’ Daniel said.
That day, a tiny mole on Simona started bleeding. Liver failure can manifest as a weakened ability to clot blood, and in this case, her blood was streaming across the living room. The Freinks called an ambulance and rushed their baby to Boston Children’s ICU. After she was stabilized, Daniel immediately headed to Lahey for his appointment.
The second day of Hanukkah, Daniel received word he was a match. Remarkably, the left lobe of Daniel’s liver was unusually small, an “anatomical anomaly.’’ Unfortunately, time was not on their side. Simona’s condition had started to quickly deteriorate.
“Initially we thought we had time, perhaps it would be in January or February, but since that bleeding incident happened we had to move everything along,’’ said Daniel. “Although the process usually takes a couple of weeks, they were able to pack it into one week.’’
Daniel said that week “was almost a miraculous turn of events.’’
Five days later, the night before both Daniel’s and Simona’s surgeries, Simona’s liver failed entirely in the ICU. He praises the team who gave it their all despite the holiday season and smaller staff, particularly transplant surgeons Dr. Kim and Dr. Khashayar Vakili, as well as Dr. Scott Elisofon, the hepatologist who was on service the week of the transplant and helped keep Simona alive. He calls the team, especially Kim, “superhuman.’’
“It was literally the last day we had to wait,’’ said Daniel. “The night before [my surgery] I was in the hospital with my daughter and wife, and on rounds the doctors were discussing the next day’s surgery. It was very emotional and tense. Everyone was focused on what will happen tomorrow.’’
In Burlington the next morning, Daniel underwent donor surgery at Lahey for six hours while the team at Boston Children’s removed Simona’s failed liver.
“We have a highly orchestrated and coordinated system between ourselves and surgeons at Children’s, so we’re in constant communication before, during, and after the surgery,’’ said Pomfret. Someone from the organ bank typically arrives an hour before they removed the portion to donate, so they can prepare it for transport as soon as possible. As soon as Pomfret prepared the segment of Daniel’s left lobe (approximately 20 percent of his liver), it was heading down the highway to Boston.
Marianna was at Boston Children’s with Simona, so the surgeons texted pictures back and forth of their corresponding patients. This allowed Marianna to keep tabs on her husband, while he was keeping tabs on Simona. Simona’s surgery took a total of eight hours. At one point, the surgeons sent Daniel a picture of Simona’s old liver alongside his donation.
“The old liver looks almost charred, black, it looks dead, and next to it, the piece of liver they transplanted from me was pink and healthy,’’ he said.
Four days after his surgery, Daniel went home. Every day while he was recovering, he visited Simona in the hospital. But what lingers with him was the first day he saw her.
“When I first came to visit my daughter after the transplant, it was the first time in three or four months that her eyes were white,’’ Daniel said. “We were used to her eyes being yellow, so to actually see the whites of her eyes was when I realized the transplant was working. It was one of the most exhilarating moments of my life, comparable to when my daughters were born.’’
“When it’s the parent, and the recipient is their child, there is tremendous motivation to get well as quickly as you can to get better and be with your child,’’ said Pomfret. Although Daniel said he wasn’t afraid at all during the procedure, Pomfret notes that it is a major surgery, and the decision should not be made lightly. “He did remarkably well, but I think that’s because he’s a young, healthy guy in excellent medical condition.’’
It’s been exactly seven months since the transplant, and the Freinks are trying to find normal again. Simona was in the hospital for 16 days after surgery. The transplant worked, and for Daniel, the piece of his liver that he donated has already grown back. Four weeks after surgery he was back at work. But Marianna has had to quit her job this year to care for Simona. She’s managing a schedule of nine different medications and weekly doctor’s appointments.
“The donation is the easy part. All the hard work is done by the recipient, since the management of an organ that is not yours is very much a full-time job that never ends,’’ said Daniel. Simona will face a lifetime of immune suppression. To prepare the home for her arrival, Simona’s sister Adelle was sent to stay with her grandparents to protect the baby from viruses her older sister might bring home from pre-school. The family faced a quick period when Simona’s body rejected the liver, and she had to return to the hospital for a while.
“The medical liver team [at Boston Children’s] are in our lives a lot,’’ Daniel said. “Simona has seen her grandmother two or three times since she was born [because of her condition], but she has seen Children’s doctors every week, and she recognizes them more than her own grandmother.’’
This month, it was Simona’s first birthday.
A day later, her sister Adelle turned 5.
“It’s never easy. Managing her is a big project, and they say the first year is the hardest. We are living that prediction,’’ he said.
While Adelle had three separate parties—one at daycare, one with friends, and then one with family—Simona’s birthday party was much smaller. They met at the park. Her grandparents and her sister could only see her from a distance, and swinging meant scrubbing the swing with antibacterial wipes, laying down a towel, and putting gloves on Simona.
Someday, her parents hope she could look to stem cells to grow her own liver, but for now, doctors’ appointments and antibacterial wipes are the reality.
“It’s not something we take for granted, this whole condition is something that would’ve killed her 20 or 30 years ago, and now she is looking at a much different future thanks to these people that keep her alive and well. We are very thankful,’’ said Daniel.
One donor can save eight people’s lives in terms of a major organ donation, according to Dr. Pomfret. “What a life altering event this is for his daughter but also for his community. Because of his donation all of their lives are changed for the better—basically their daughter had run out of time, so if it weren’t for Daniel, she wouldn’t be here,’’ she said.
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