Girl with Mermaid syndrome defies the odds
KENNEBUNKPORT, Maine — Shiloh Pepin will turn 8 years old on Saturday, against all odds, against all reason and against what doctors told her parents the day she was born.
Shiloh was born with sirenomelia, a disorder also known as Mermaid syndrome. The vast majority of fetuses with sirenomelia never make it to full-term. Of those that do — and scientists say their numbers are only in the hundreds throughout the world and throughout history — almost all die within hours of birth.
Experts, in fact, say there are only three known sirenomelia survivors alive in the world today. Shiloh Pepin is one of them.
This is her story.
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Leslie Pepin just wanted a baby who breathed.
At 35, she and husband Elmer had already lost one daughter, Molly, who was stillborn at 8½ months. The loss devastated Leslie, who had always taken for granted that she'd be a mother one day.
So when she discovered she was pregnant again, she was thrilled. But things weren't destined to go smoothly.
"At 15 weeks, they told me something was wrong," Leslie says. The doctors said it could be a number of things, including sirenomelia. Leslie's weight made it impossible for the doctors to tell for sure. But if that was the case, they told her, the fetus would never make it to term.
Leslie's baby, though, had other plans. She continued to grow and when she was delivered by C-section on Aug. 4, 1999, she weighed in at a healthy 8 pounds.
But doctors had bad news for Leslie. The child she and Elmer had longed for did, indeed, have sirenomelia. She had only one partially working kidney, no lower colon, no genital organs. And she was fused from the waist down. She was a mermaid baby.
Leslie had seen pictures of other babies born with sirenomelia, but all of them were dead. She demanded that doctors bring her her baby.
"I said, 'I need to see her,'" she recalls.
But as she waited, Leslie would wonder if she would love this baby that she seemed destined to lose.
"I didn't know what I'd feel," she says. "But they brought her and she was so beautiful, with these big black eyes. And I knew. I thought, 'OK, I love her.'"
Elmer, though, never had any doubts.
"I just thought she was beautiful," he says.
They named their new daughter Shiloh.
But as the Pepins were falling in love, doctors were waiting with more bad news. The baby would need to be transferred to a neo-natal intensive care unit equipped to handle very sick babies and the nearest one was at Boston Children's Hospital. Leslie, who needed more time to recover from the C-section, would have to stay in Maine. A couple of days later, when Leslie was finally able to be with her daughter, the doctors were waiting.
Shiloh, they told her, had no kidney function and no way to release urine on her own. The only thing the Pepins could do, doctors said, was to take her home and love her for as long as she had left. Better yet, Leslie says the doctors told her, the Pepins could keep her at Boston Children's, where they could study her.
But Elmer and Leslie weren't about to leave their child to be studied. And while they certainly loved her, they weren't going to just watch her die.
And so the fight to save Shiloh began.
The first thing the Pepins needed to do was to find a local doctor who would agree to have Shiloh released into his care. They found him in the person of Kennebunk pediatrician Don Burgess, who had Shiloh transferred up to Southern Maine Medical Center. By then, Shiloh's body had begun to help itself.
"She created a ureter in the back of her butt," Leslie says. That meant urine could be expelled from her body. And if Shiloh could produce urine, it meant that her kidney, although weak, was functioning.
Burgess allowed the Pepins to take Shiloh home, where they wanted her to be. And then he gave them a gift no one could've guessed would make all the difference.
"He said, 'Hey, I know this guy whose wife went to school with my wife. He's in nephrology. Do you want me to give him a call?'" Leslie says. The Pepins said yes, and soon found themselves up in Portland, waiting to meet the new doctor.
"And in walks this young guy with a mullet, a motorcycle helmet under his arm and an Eastern philosophy T-shirt on," Leslie laughs. The new doctor asked the Pepins if he could bring his crew in to look at Shiloh. None of them had ever seen a sirenomelia baby outside of textbooks before.
Once his crew was done with the examination, the new doctor sat down with the Pepins.
"He said, 'Now this child is entitled to whatever any other child is entitled to,'" Leslie says.
Then he asked something no other doctor had thought to ask.
"He said, 'You're her parents. What do you want for her?'" Leslie says, tearing up. "And we told him, 'We want her to survive.'"
And that's when Matt Hand, D.O. made a promise that would save Shiloh's life.
He said, "All right, we'll see what we can do."
Matt Hand is the director of pediatric nephrology at the Barbara Bush Children's Hospital at Maine Medical Center. As a specialist, he'd seen some unusual cases before. But given how rare sirenomelia is, he'd certainly never seen a baby like Shiloh Pepin before, much less agreed to work with one. But his first look at Shiloh convinced him to try.
"It was similar to the mermaid myth," he recalls. "She was a strikingly beautiful little baby."
But wanting to help and knowing what to do were two different things, as Hand soon found out. With, at that time, only one other known survivor of the disease alive, there really wasn't a blueprint for treatment.
"It's an extremely unusual thing to have this kind of thing and survive," Hand says. The only other living child with sirenomelia in the world was Tiffany Yorks, then an 11-year-old living in Florida.
"I talked to her surgeon after meeting Shiloh," Hand says. "But Shiloh's case is much more severe."
Yorks wasn't having problems with kidney function, while that was clearly Shiloh's biggest obstacle. While dialysis helped to an extent, Hand knew that a kidney transplant would give Shiloh her best shot.
The key, though, would be getting Shiloh to grow and get strong so the surgery could take place. And respecting her parents' wishes.
"They wanted to keep her home as much as possible, surrounded by people who love her," Hand says. "They wanted her to have a good and normal life — and to stay alive."
That was where Hand would come in. While Elmer and Leslie learned to deal with catheters and empty iliostomy and colostomy bags, Hand would look for ways to improve Shiloh's health. He would make calls, study textbooks, talk and, most importantly, listen to the Pepins and, eventually, to Shiloh herself.
For while those around her fought to save her life, little Shiloh did the only thing she knew how: She lived.
When other babies her age learned to sit up, so did Shiloh. When other babies made sounds, so did she. And when they learned to walk, taking those first tentative steps, Shiloh developed her own style of getting around — she scooted, pulling herself along with her hands.
She quickly became a favorite with Leslie's big extended family — and with the staff at Hand's office. When Shiloh turned 1, Hand and his crew made sure they were there for the party.
"They had a tent and a ball house and there, in the center, was Shiloh in a kiddie pool," Hand recalls.
Seeing her look so healthy and happy, it was hard to believe doctors had once told her parents to take her home to die. But Hand knew there was an even tougher road ahead.
"Her grandmother came up to me and said she couldn't believe she'd reached her first birthday," Hand says. "She asked, 'Do you think she'll make her second one?' and I said, 'I think so. I hope so.'"
Not only would Shiloh make her second birthday, she'd do it with the help of a very special gift: a new kidney.
Leslie still remembers the day of Shiloh's kidney transplant as a day full of highs and lows. The low came when, as she waited for Shiloh to get out of surgery, she received a call from the emergency room downstairs. Elmer, who had run out to get them lunch, had fallen off a curb and broke an ankle. He was downstairs having a cast put on.
Leslie laughs to think about it now.
"She's getting a transplant and he's getting a cast," she says. "What a day ...;"
The high point, though, would come not much later when doctors came out to tell her that Shiloh's surgery was a success. The cadaver kidney they had transplanted into her had taken. Within a few hours it would begin producing urine.
By early September the Pepins would leave Pittsburgh, where Shiloh had the surgery done, and bring her back home to Kennebunkport. With the new kidney, Shiloh had more energy than she had before. She started to grow faster and be able to do more. She learned to love swimming and playing with her older cousin Sammie, who she adored. Days turned into weeks, weeks into months and months into years. Finally, one day the little girl whom doctors said would never live for more than a few months was old enough to start school.
"Matt told us we could homeschool her," Leslie says. "You have to worry about infection. But if we homeschooled her, she'd only see here, she wouldn't see anything else out there."
The Pepins didn't want that for Shiloh. They believed their child deserved a "normal" life — one with school and trips and friends. They didn't want her treated like a disabled child.
"I don't have a disabled child. She's perfect," Elmer says firmly. "I have a challenged child."
But Shiloh was up to the challenge. She started at Consolidated School, using a wheelchair to get around. Leslie made her pretty dresses with gathered bottoms and a soft moccasin to wear. Her grandmother, Jackie Kellett, bought her the dangling earrings that she liked. But it was Shiloh herself that won everyone over.
"She's a love," says occupational therapist Sue Richardson, who works with Shiloh at school. "An absolute love."
Surrounded by people who loved her unconditionally and parents who fiercely fought to give her as normal a childhood as possible, Shiloh was growing into a confident, happy child who used humor to get over the bumpy patches in life.
When Shiloh heard all of the girls in her class were going to take dance lessons, she wanted them, too. Leslie and Elmer signed her up, watching as the other girls spun around in time to the music with Shiloh in their midst, scooting along, smiling away.
The kids were great and very accepting, Leslie says. And even when they were curious, Shiloh was ready with an answer.
"One time, a new girl came up to her at dance class and said, 'Where's your other leg?'" Leslie says. "And Shiloh said, 'I only got one.' And the other girl shrugged and said, 'OK' and they both started to dance."
Shiloh danced through the next few years, in fact, going to school, hanging out with her cousin Sammie and watching the movies she loves. But while Shiloh's mind was getting smarter and stronger each year, her body wasn't.
Doctors discovered the reason: Her new kidney was failing.
Two years ago, Shiloh's kidney failed altogether and Hand made arrangements for her to start receiving dialysis at Casco Bay Dialysis in Westbrook. She goes there three times a week and is hooked up to a machine while she chats with her "dialysis buddy" Kayla, who's awaiting a liver and kidney transplant.
In her young life, Shiloh has already had 123 procedures, her mom says, but she's surprisingly unafraid of hospitals and medical personnel.
She loves Melanie, her dialysis nurse, because "she's smarter than me," and has nothing but the highest praise for the man she calls Dr. Matt.
"He's a hottie," she giggles.
Her new doctor, Dr. James Whiting, she says is an "expert."
The Pepins are counting on that because Whiting will be the doctor performing Shiloh's next kidney transplant. This one will be done closer to home, under the auspices of Maine Medical Center's relatively new transplant center. And the Pepins hope it will be done soon.
They say Shiloh is growing weaker. She can't scoot around as much anymore. And she gets tired much faster now, too.
She's waited two years for this transplant, after a close call in June. That was when Leslie and Elmer got the call from Pittsburgh Children's Hospital saying that they had a kidney for Shiloh. The Pepins flew out and Shiloh was taken in for surgery. She hadn't been in long when the doctor came out, looking grave.
"I thought he was going to tell me she died," Leslie says. "And when he told me we had to go to a private room to talk, I really thought he was going to tell me she died."
Instead, he told her that the kidney they had found for Shiloh had been removed incorrectly. It couldn't be used. It was back to Kennebunkport, and back to dialysis.
Shiloh's body is so small, though, and her will so strong that doctors say she is running out of spots on her body where the dialysis machine can be hooked up to. Each time they find a new one, Leslie says, Shiloh rips the catheter out. They're down to their last spot now and if they lose that one, the only solution left will be open heart surgery.
The Pepins and Hand are hoping that a new kidney comes through before that happens. Just last Saturday they got word that Shiloh has been placed on the transplant list at Maine Med. Now the waiting begins again.
Leslie says that she's comforted knowing that Hand will be close by this time, unlike last time, when he came to see them off at the airport.
"I have faith in him, because he hasn't failed us," she says. "If we lose her, he'll lose just as much."
For Shiloh, the thought of another surgery is "a little bit scary." The anesthesia is the worst part, she says, but staying at Barbara Bush, as she calls the children's hospital, is pretty terrific. There, she's a rock star and gets treated like one.
"They bring her presents and movies," Elmer says. "Everybody loves her."
Hand agrees.
"She's quite an amazing young lady, bubbly and funny," he says. "We always laugh, because we've had to ask other doctors to help her and they always say no, they won't do it. And we always know that all they'll have to do is meet her, and they're not going to turn her down."
If Shiloh comes through the kidney transplant and grows stronger, Hand says, the family can then start thinking about surgery to separate her fused legs. The only other two sirenomelia survivors have already had the surgery, though Hand says Shiloh's case is much more complicated.
So far, Leslie would like to see her daughter have the surgery, but Elmer and Shiloh haven't embraced the idea.
"Shiloh said she doesn't want two legs," Leslie says. "She says, 'I'm fine.'"
Before they can start thinking that far ahead, though, there's the transplant to get through.
This time, the travel back and forth to the hospital will be easier for family and friends with Shiloh just up in Portland, Leslie says. All of the trips, the gas money and the food, have left the family struggling with money. While Leslie's colleagues at Unum have been wonderfully supportive and her bosses have given her all the flexibility she could ask for, the couple needs Elmer to stay home to take care of Shiloh when she's not in school.
"She's perfect to him," Leslie says of her husband's way of looking at their daughter. "Everyone needs someone like that."
But with only one salary coming in, money is tight. And Leslie makes too much for the family to qualify for most kinds of assistance. Thanks to help from families, friends, and organizations like the Kennebunkport Masons, the Shriners and others, the Pepins can usually get by. But there are things Shiloh might need, like a ground-floor apartment and maybe a new wheelchair down the road, that insurance may not provide. Still, Leslie is determined that Shiloh won't go without something she truly needs.
"I refuse to put her life on hold because I can't pay a bill," she says.
Of course, putting life on hold isn't something Shiloh knows how to do. She's looking forward to third grade, she says, and to returning to all her friends at school. She rolls her eyes when she talks about the boys who annoy her and pouts a little when she talks about the teacher she wishes she had. But she lights up when talking about her favorite song from her favorite Disney movie, "Pete's Dragon."
"It's a Razzle Dazzle Day," she bursts out, launching into song.
Soon, though, it's clear she's growing tired, and Elmer bends down to gently lift her from the swing she's been rocking in.
As she watches her husband carry Shiloh away, Leslie's face clouds over.
"I know she's excited about being listed," Leslie says of Shiloh getting approved for the transplant. "And I know she's worried that she's going to die."
That's a fear that Elmer and Leslie have lived with for every day of the eight years they've had Shiloh. And today, just the thought of it has tears streaming down Leslie's face. She knows it might happen, she says. But she wouldn't change a single step in the path that has brought them to this point.
"I will have known that the eight years I had with her we lived more than most people have in a lifetime," she says through her tears.
For the gift Shiloh has given them is more precious than any other.
"I'm a mother with a child who breathes," Leslie says through her tears. "That's all I ever wanted."
A silent auction and night of performances will be held to benefit Shiloh at 7 p.m. Aug. 25 at the Windham Performing Arts Center. Tickets are $12 for adults, $35 for families of four or more and $8 for seniors and students. They will be available at the door. Call (207) 776-2677, e-mail ShilohBenefit@gmail.com or visit www.shilohbenefit.com. Donations are also accepted through the site. What is sirenomelia? Also known as mermaid syndrome, sirenomelia is a condition where a fetus fails to develop normally beneath the waist, resulting in a fusion of the lower limbs. The condition is also accompanied by an array of other abnormalities, including kidney, colon and genital deformities. Scientists say sirenomelia occurs in between 1 in 70,000-100,000 pregnancies, the majority of which do not continue full-term. Of those that do, the majority of infants die within hours of birth. The condition affects more boys than girls, though the only known survivors are three girls - Tiffany Yorks (now 19) in Florida, Milagros Cerrone (now 3) of Peru and Shiloh Pepin of Kennebunkport. Of the three, both Yorks and Cerrone had reconstructive surgery to separate their legs. According to Shiloh's doctor, Matt Hand, D.O., Director of Pediatric Nephrology at the Barbara Bush Children's Hospital at Maine Medical Center, Shiloh's case is much more severe than those of the other two girls. Sources: The Journal of Postgraduate Medicine, Sirenomelia.org