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Everyday Miracles
Breakthroughs at Packard Are Reshaping Pediatric Care Today
BY MARK SHWARTZ
FALL 2008 --
Anna Börk
Laura Börk was 21 weeks pregnant with her daughter, Anna, when doctors made a troubling discovery.
''Lab tests showed that I had almost double the normal amount of fluid in my amniotic sac,'' she recalls. ''And ultrasounds of the fetus showed that Anna had a very tiny stomach.''
It turned out that a large section of Anna's esophagus was missing, a rare birth defect known as long gap esophageal atresia, which made it impossible for her to swallow, digest, and excrete amniotic fluid the way a healthy fetus does. Only one in 4,500 infants is born with the condition, and the long gap form is one of the most severe types.
''It's like a shark took a bite out of your esophagus,'' says Craig T. Albanese, MD, division chief of pediatric general surgery and the John A. and Cynthia Fry Gunn Endowed Director for Pediatric Surgical Services. ''One part of the esophagus ends blindly just below the neck in the upper part of the chest, and the other part ends blindly just above the diaphragm and enters the stomach. So you have two blind ends, and everything in between is gone.''
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Anna Börk was born prematurely at Packard Children's last year with a large section of her esophagus missing. |
On Oct. 10, 2007, Anna was born prematurely at Packard Children's Hospital and was immediately taken to the neonatal intensive care unit (NICU), where a feeding tube was inserted in her stomach.
Over the next few week, Laura and husband Karrigan visited Anna at the Hospital mornings and nights. ''We were a stubborn presence in the NICU,'' Laura says. ''Fortunately, we live only a few miles away in Redwood City.''
In late November, the Börks took Anna home, where she continued to be fed through her stomach, while a second tube hooked to a continuous suction machine was kept in her mouth to drain saliva. ''Packard helped us find night nurses for round-the-clock care and gave us the training we needed to keep her safe at home,'' says Karrigan, a graduate student earning dual degrees at Stanford Law School and UC-Davis. ''It made a huge difference having her home so soon.''
To repair Anna's esophagus would require major surgery. But on the advice of Albanese, the Börks decided to wait a few weeks while nature took its course. ''We hoped that, as Anna grew, the two ends of her esophagus would grow a little closer, which would improve her surgical outcome,'' Albanese says. ''The ends are never going to touch each other, but the gap does close a little bit.''
On Dec. 17, X-rays revealed that the two ends of Anna's esophagus had grown significantly closer, so Albanese and fellow surgeon Sanjeev Dutta, MD, prepared her for surgery.
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Craig Albanese, MD, and Sanjeev Dutta, MD, are pioneering minimally invasive surgeries, such as the repair of Anna's esophagus through two tiny incisions. |
In a standard operation, the surgeon makes a large cut below the shoulder blade, a procedure that can leave the child with a deformed shoulder, weakened back muscles, and noticeable scars. But Albanese and Dutta have pioneered a technique called minimally invasive surgery. The idea is to reduce the risk of muscle damage, pain, and scarring by using very small instruments and making one or two tiny incisions.
''I call it 'stealth surgery,''' says Dutta, an assistant professor of surgery and of pediatrics at Stanford. ''We can do the operation without leaving evidence that it even occurred.'' Dutta has performed recent surgeries with incisions made in hidden spots, such as the armpit. In the future, he plans to do research on surgical scarring and its impact on a child’s socialization.
During Anna's three-hour surgery, Dutta made two small incisions in her back using instruments that are only three millimeters wide--about half the diameter of a pencil. ''To complete the surgery laparoscopically was quite a feat,'' he says. ''The surgical space was very small, about one-inch square, but we were able to sew the two ends of her esophagus together.''
On Jan. 15, 2008, Anna came home with an intact and functional esophagus. By the time she was eight months old, she was eating solid foods three times a day, although she still must rely on a gastric feeding tube for most of her nutrition. ''The Hospital staff really worked with us to gradually introduce her to solids at her own pace,'' says Laura.
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Anna with her mom, Laura, is now a healthy, energetic 1-year-old. |
''We're one of the top pediatric hospitals in the world for minimally invasive surgery,'' says Albanese. ''We do several hundred a year on fetuses, neonates, toddlers, children, adolescents--all with different diseases and in different body cavities.''
In the future, Albanese and Dutta hope to develop special glues that mend organs without stitches. ''Maybe we'll use laser light to polymerize the glue so we don't have to do difficult sewing in a very confined space,'' Albanese says. ''As physicians at Packard we're indebted to having a working environment that allows us to do such innovative things.''
For Anna, the prognosis is excellent for a long and healthy life. ''She's such a different child now--an energetic, bubbly girl with only two, nearly invisible scars on her back from the surgery,'' says Laura.
''We are so grateful to Packard Children's Hospital,'' adds Karrigan. ''How do you thank someone for giving you back your daughter?''
Miles Coulson
On March 30, 2004, Miles Coulson was born healthy, weighing a hearty 11 pounds, 6 ounces. But two weeks later, he stopped feeding. His parents, Leigh Bills and Adrian Coulson, made an appointment with their local pediatrician in Davis, Calif.
By the time they got to the doctor's office, Miles's breathing was labored, his stomach was protracting, and his skin was mottled in color. Within a few hours, Leigh and Adrian received unimaginable news. A common virus had caused myocarditis, or inflammation of the heart. The statistics were grim: Miles had a 30 percent chance of compromised heart function and a 30 percent chance of death.
Leigh and Adrian were referred to Packard Children's Hospital, where they met David Rosenthal, MD, associate professor of cardiology and director of the Pediatric Heart Failure Program. Rosenthal concluded from an echocardiogram that Miles would need a heart transplant. ''Although the prognosis was grim, we had confidence in Dr. Rosenthal,'' recalls Adrian. ''Right from the start we trusted him.''
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Miles Coulson, with his mother, Leigh Bills, was failing fast during the long wait for a heart transplant. |
Miles settled in for a long stay at the Children's Hospital while he awaited a new heart. By early July, he was gray and cold, and failing fast. When it seemed that he had just days to live, Rosenthal approached Leigh and Adrian with a revolutionary plan. A machine called the Berlin Heart could help Miles survive until a donor heart became available.
A miniature, external heart pump attached by tubes rather than implanted, the Berlin Heart had been used on only 49 children in Europe. In the U.S., it had been approved by the Food and Drug Administration (FDA) on an individual basis for just three other children, and never before for such a young child.
Although a few different heart pumps are available to adults with heart failure, infants aren't so fortunate. So as Miles's health deteriorated, his care team at Packard looked to the rare German device to provide temporary support.
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David Rosenthal, MD, sought special FDA approval to place Miles on the Berlin Heart until a donor heart became available. Miles was the youngest child in the U.S. to use the miniature, external heart pump. |
On July 13, doctors led by Bruce Reitz, MD, the Norman E. Shumway Professor of Cardiothoracic Surgery, and Robert Robbins, MD, professor and chair of cardiothoracic surgery, placed Miles on the Berlin Heart. He responded immediately. The blue-eyed baby, who had been gray and unresponsive before, gained a healthy pink glow. ''I couldn't believe that after one operation he was so mucy better,'' says Leigh. Soon Miles was strong enough to be taken off his respirator. ''We were able to interact, kiss his face, and let him move his head around--the change was monumental.''
The pump essentially resuscitated Miles, helping restore his kidney and liver function. ''It was the first time he was totally responsive, after he had been so sick for so long,'' says Leigh. Despite tubes in his chest, Miles was smiling, holding hands with his parents and big brother, Matthew.
But the device was only a temporary fix. Blood-clotting and infection were constant threats. Only a permanent new heart would do, so Miles was indeed fortunate to find one.
On Sept. 5, Leigh was in the room when nurses got the call--a heart was available for Miles. The plum-sized donor heart proved to be a good match, and the four-hour surgery to implant it in his chest was a success. He was off the respirator within 48 hours and began steadily improving, gaining weight to add to his chubby cheeks.
Miles had survived on the Berlin Heart for a total of 55 days while he awaited the transplant. Securing the equipment was a major undertaking, including special approval from the FDA, but it proved well worth the effort, said Rosenthal, who stayed up nights preparing the unique protocol.
''It's a device that's easy to operate, reliable, and lifesaving,'' he says. ''I don't see how Miles could have made it without it.''
Now, at 4 years old, Miles is what his mother prayed he would be: a happy child--cuddly, sweet, and affectionate. ''He has loads of energy, moves around a lot, and loves to be in the water,'' she says.
Miles's post-transplant care brings the Coulsons back to Packard every three or four months. They've come to trust the staff at the Children's Hospital as ''old friends'' on whom they can rely in even the very worst situation. ''I know that even when I can't be there, Miles is with people who take good care of him,'' says Leigh. ''That's what makes Packard stand out. It's not just how well they treat the child, but that they take care of the whole family.''
Joe Wise
Chronic mitochondrial myopathy, or CMM, is among the most debilitating childhood diseases. Kids with CMM are unable to generate adequate supplies of energy in their bodies, often requiring a wheelchair and a ventilator just to make it through the day. That is why the athletic accomplishments of 15-year-old Joe Wise are so remarkable.
Joe suffers from CMM, but at the U.S. Paralympics trials earlier this spring, he swam the 400-meter freestyle in 4 minutes and 24 seconds--a national record and sixth best in the world for all ages in his disability group. All told, he won three gold medals, and qualified to represent the United States at the 2008 Paralympics in Beijing, the youngest member of a team of 38 disabled athletes.
''When I set the record, it felt unbelievable,'' says Joe, a high school sophomore from Menlo Park, Calif. ''I had four years to work on that goal, and four years of emotion came out when I hit that wall.''
His parents, Ronald and Marie Wise, couldn't be prouder. ''Joe did it in four years,'' beams Ron. ''He wasn't even in the top 50 in the world, now he's number six.''
Joe's younger brother, Jack, has been diagnosed with a milder form of CMM, an inherited disease that can make even routine exercise a painful chore.
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Joe Wise receives care from Kari Nadeau, MD, PhD, to manage asthma and a mitochondrial disease that depletes his energy. |
''Every cell in your body has organelles called mitochondria that help transform oxygen into energy,'' says Kari Nadeau, MD, PhD, an assistant professor of pediatrics at Stanford. ''If your mitochondria don't work, you can't get the right amount of energy from the oxygen that you breathe. In Joe's case, he has two issues: asthma, which affects how rapidly he can oxygenate his cells, and mitochondrial disease, so that when he does get enough oxygen, his mitochondria don't convert it into energy as efficiently as in most people.''
''It's like putting fuel into a car and letting it spill out the bottom,'' she explains. ''The motor can't run, or it runs very poorly. In the body, when the mitochondria are only working halfway or even worse, your muscles, which need energy, are not going to work as well.''
To reduce the impact of the disease, Nadeau and the Wise family have crafted a unique treatment plan that revolves around Joe's passion for swimming. ''I train every day,'' he says. ''I also use an asthma inhaler, I take vitamins, and I eat healthy.''
Swimming has improved Joe's CMM and asthma, says Nadeau. ''He's been very smart. He gives himself a little bit of oxygen before he goes to a swim meet. That oxygen loads up into his muscles, and even though his mitochondria don't work very well, the oxygen can compensate a little bit.'' To boost his immune system and prevent infections, Joe gives himself a three-hour intravenous infusion of immunoglobulin every Sunday. ''I don't mind the infusions,'' he says. ''They give me a chance to rest and catch up on schoolwork.'' Joe also wears a ventilator one hour a day and at night while he's asleep.
''It speaks so well of Joe and his family that they know ahead of time what he can do to compensate for these issues,'' says Nadeau. ''The other amazing part of his story is that he was diagnosed early, his parents got very involved, and they found the appropriate medical team. Through that approach, and through Joe's willingness to be part of that team, we've been able to manage him carefully and monitor him so that if anything does happen, we'll be right there to help him. We need a customized plan for each patient like Joe, and that's what Packard Children's does well.''
Marie Wise echoes that sentiment, citing the contributions of pediatric nurse Lisa Hoyte, RN, clinical assistant professor Nanci Yuan, MD, and Gregory Enns, MD, director of Packard's Biochemical Genetics Program and an Arline and Pete Harman Endowed Faculty Scholar. ''Our doctors go way beyond the call of duty,'' she says. ''A lot of kids with this disease aren't doing as well as my boys. We're so lucky, thanks to them.''
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Having learned to overcome these challenges, Joe is a record-breaking swimmer and a contender in the 2008 Paralympics in Beijing. |
The Packard staff has become part of the family, says Joe. ''They know howb I feel. When I set the goal of making the Paralympics team, they followed me every step of the way. They're the best team I've ever had.''
Joe plans to continue swimming and to improve on his record-breaking time. He also wants to start a foundation to encourage other disabled kids to compete in athletics.
''Joe is a talented swimmer, and he's been able to use those talents in a very positive way as a role model for other children,'' says Nadeau. ''Unfortunately there is no cure for mitochondrial disease right now. We can give oxygen, we can give supplements, but no one has been able to replace mitochondria yet. It speaks to the fact that medicine needs to do more research, think about what genes are being affected, and maybe try gene therapy in the future. In the meantime, people like Joe inspire us to not give up.''
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