2014 Center for Fetal Diagnosis and Treatment Divisional Report by The Children's Hospital of Philadelphia

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A Report on Your Investment in Hope

Hope Cause for

Contents

A message from

N. Scott Adzick, M.D., M.M.M.

3 Welcome Letter But even more importantly, your generosity helps families going through some of the most difficult times of their lives.

4 News Briefs

Ultimately, we are all here for one simple purpose, no matter how complex the medicine may be to achieve it. We are all here to see that babies have the best possible outcome and their families have the support they need.

8 The 58th Annual Daisy Day Luncheon 10 Pioneering Holistic Care for Families 12 A Lasting Gift for Children

This year’s report shares some remarkable news about the Center for Fetal Diagnosis and Treatment — what we can do here, and how we lead the world in fetal diagnosis, fetal surgery and postnatal care. But I am struck by how many of these stories are also about the families we serve, children we have helped, and plans for new services to support parents even more.

14 Giving Back Through Planned Giving 16 Philanthropic Support for Genetic Testing 18 Meet the Experts 22 A Clear Vision 24 Endowed Chairs, Endowed Fellowships and Board of Visitors

Left: Twins Liam and Angela were the 1,000th delivery at CHOP’s Garbose Family Special Delivery Unit

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Dear Friends, For nearly 20 years, the Center for Fetal Diagnosis and Treatment has been performing the most advanced surgeries and treatments anywhere in the world to give hope to families coping with fragile pregnancies affected by birth defects. From the very beginning of this program, that incredible work has been made possible because of the generosity of donors like you. Your giving allows The Children’s Hospital of Philadelphia to invest in the latest technology, provide the highest standard of patient care, and pursue the research that will advance both.

Whether doctors, nurses, donors or any of the many others involved in the Center’s success, together we give these families the best possible care. Thank you for the vital role you play in that mission. Sincerely,

N. Scott Adzick, M.D., M.M.M. Surgeon-in-Chief Director, Center for Fetal Diagnosis and Treatment C. Everett Koop Endowed Chair in Pediatric Surgery

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The Oberios traveled to Philadelphia, where CHOP surgeons successfully closed the opening in their unborn baby’s spine. Months later, their baby was delivered by C-section in CHOP’s Garbose Family Special Delivery Unit (SDU), the world’s first birth facility designed exclusively for pregnancies complicated by birth defects. Audrey Rose weighed a healthy 5 pounds, 8 ounces and had nothing more than a scar where her spine defect had been.

News Briefs Jackie and Gideon, pictured with daughter Audrey, the Center’s 1,000th fetal surgery patient.

Jackie and Gideon documented their journey of care in home videos, which took shape as a love letter to their unborn daughter. To view their touching video, visit giftofchildhood.org/fetal.

CFDT Expert Helps Task Force Create Fetal Surgery Guidelines

Birth of 1,000th Fetal Surgery Patient Marks Record Milestone In May 2013, 18 years after opening the internationally prominent Center for Fetal Diagnosis and Treatment, CHOP celebrated 1,000 fetal surgeries — highly complex surgical interventions to repair birth defects in the womb. Approximately 4,000 fetal surgeries have been done worldwide, meaning a quarter of them have been performed at CHOP, the largest number of any hospital in the world. Like nearly 20 percent of the fetal surgeries at CHOP, the 1,000th case was a complex open surgery on a mother whose fetus was prenatally

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diagnosed with myelomeningocele, the most severe form of spina bifida. Children affected by the condition, in which part of the developing spine fails to close properly, can experience paralysis and other serious neurological problems. After speaking with several local specialists and conducting online research, Jackie Oberio and her husband Gideon of Baltimore learned that Center team members — led by Director and CHOP Surgeon-in-Chief, N. Scott Adzick, M.D., M.M.M. — had pioneered a surgical procedure to repair spina bifida before birth that could improve neurologic function and increase the likelihood that a child would be able to walk independently.

In 2011, experts at CHOP’s Center for Fetal Diagnosis and Treatment (CFDT) co-led a landmark study, published in the New England Journal of Medicine, showing that fetal surgery for myelomeningocele (MMC) — the most serious form of spina bifida — can provide improved outcomes for this devastating condition. It was one of the most exciting developments in the history of treatment for birth defects and one that clinicians at the CFDT spent years helping to pioneer. Since the study’s release, fetal surgery — an extremely complex procedure that requires extensive experience to perform successfully — has become a rapidly emerging alternative therapy. Increasing patient interest in this procedure and a rise in the number of centers performing it led to the creation of the MMC Maternal-Fetal Management Task Force, initially convened by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The Task Force developed guidelines for fetal MMC repair, detailing proper surgical

Julie S. Moldenhauer, M.D., pictured with with Madison, 3, a CFDT patient, helped lead the creation of national guidelines for fetal surgical repair of myelomeningocele, the most severe form of spina bifida.

management, long-term care, necessary counseling, requirements for outcomes reporting, and the expertise and services required to be considered an established fetal therapy center. Julie S. Moldenhauer, M.D., medical director of CHOP’s Garbose Family Special Delivery Unit, was a member of the Task Force, joining clinicians experienced in fetal management of MMC from a handful of professional societies and organizations across the country. The group’s criteria were published in the February 2014 issue of the American Journal of Obstetrics & Gynecology, the official publication of the Society for Maternal-Fetal Medicine. The recommendations are comprehensive and inclusive to ensure all teams involved in the care of these fragile patients proceed with caution, as the CFDT’s team does, to maintain optimal patient safety.

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Prestigious Award Recognizes Dr. Adzick, Fetal Surgery Pioneer World-renowned fetal surgeon and CHOP Surgeon-in-Chief, N. Scott Adzick, M.D., M.M.M., was recently honored with one of America’s oldest and most prestigious science awards. Created in 1822, the John Scott Award is named for an Edinburgh pharmacist who sought to honor Benjamin Franklin’s legacy by recognizing men and women whose transformative inventions have benefited society. Past winners have included Marie Curie, Thomas Edison, Jonas Salk and the Wright Brothers. Adzick was recognized for his pioneering contributions to fetal surgery — performing highly complex procedures on babies still in the womb to correct debilitating or life-threatening birth defects. An innovator in fetal medicine since the field’s inception and founder of CHOP’s Center for Fetal Diagnosis and Treatment, Adzick has dedicated his career to the pursuit of groundbreaking prenatal therapy for birth defects, and today continues to explore cutting-edge treatment options. He is also an active pediatric general and thoracic surgeon. While much of his work is devoted to surgery in newborns, he also has a special interest and expertise in surgery for complex pediatric endocrine conditions such as hyperinsulinism and thyroid disorders. Adzick was one of three distinguished Philadelphia scientists to receive the award during a ceremony in November 2013 at the American Philosophical Society’s headquarters in Center City Philadelphia.

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17th Annual Fetal Family Reunion Gathers Families From Across the U.S. More than 1,300 people from 16 states came together on CHOP’s Main Campus in June 2013 to celebrate the 17th Annual Fetal Family Reunion, sponsored by Anapol Schwartz Foundation. Established in 1995, the Center is the largest and most comprehensive fetal program in the world, having welcomed more than 15,000 expectant mothers from all 50 states and more than 50 countries. Since the first reunion in 1997, attendance has grown from just 10 families to more than 250 families from all over the world.

2013 Reunion Snapshots Left: Evalyse, diagnosed and treated at the Center for spina bifida, with her mother and Clinical Coordinator, Sue Spinner, M.S.N., R.N. Middle left: Nahla Khalek, M.D., M.P.H., reconnects with families. Middle right: Obstetrical Director, Mark Johnson, M.D., with the Robero family. Bottom: The Annual Fetal Family Reunion group photo.

The reunion brings together a unique community of families who have shared similar experiences. All of the families in attendance had children prenatally diagnosed with birth defects — such as spina bifida, congenital heart disease or twin-twin transfusion syndrome — that had potentially devastating outcomes. Babies diagnosed with these birth defects either underwent fetal surgery to treat the condition before birth or received highly sophisticated care immediately after birth. The 2013 reunion also marked the fifth anniversary of the Center’s Garbose Family Special Delivery Unit (SDU). Established in 2008, the SDU is the world’s first birth facility specifically designed for mothers carrying babies with known birth defects. Today, more than 1,700 babies, with many different fetal diagnoses, have been delivered in the unit. The 18th Annual Family Reunion will take place on Sunday, June 22, 2014.

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Raising Funds, Raising Awareness

he Children’s Hospital of Philadelphia’s 58th Annual Daisy Day Luncheon and Fashion Show raised more than $1.7 million to support the Center for Fetal Diagnosis and Treatment. More than 700 guests attended the glamorous event on May 8 at the Hyatt at The Bellevue in Philadelphia. This year’s fashion show, presented by Saks Fifth Avenue, featured Zac Posen’s Fall 2014 Collection. Nancy A. Wolfson celebrated her 16th consecutive year as chair of Daisy Day. This year’s honorary co-chairs were Mary and Jed Kelly, parents of now 7-year-old Addison Kelly, who underwent a rare lifesaving surgery before birth to remove a tumor from her chest. The event kicked off with a silent auction featuring high-end jewelry, designer handbags, sports memorabilia, trips and much more, followed by a live auction that included a Zac Posen once-in-a-lifetime experience, a trip to Costa Rica, tickets to “The Voice” and “America’s Got Talent,” and a Philadelphia Eagles Experience. The event concluded with the spectacular Saks Fifth Avenue runway show featuring fashion designer and “Project Runway” judge Zac Posen. The Annual Daisy Day Luncheon and Fashion Show was founded by the Auxiliary of The Children’s Hospital of Philadelphia in 1953. Since its inception, when volunteers sold daisies on street corners throughout the city, the Daisy Day Luncheon and Community Campaign has grown tremendously, raising more than $17 million for world-class patient care and pioneering research.

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58th Annual Daisy Day Luncheon This year’s Daisy Day Luncheon benefited the Center for Fetal Diagnosis and Treatment and featured special guest Zac Posen, a prominent designer, who presented his Fall 2014 Collection. Runway models included children who had lifesaving procedures at the CFDT and members of the Center’s staff.

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Mind, Body and Soul Pioneering holistic care for expectant families

HOP’s Center for Fetal Diagnosis and Treatment (CFDT) has long been known as a world leader in fetal medicine, pioneering many innovations and firsts that have given hope to families dealing with devastating prenatallydiagnosed conditions.

center. “I want to create the information to say, ‘Let me tell you what you may experience. Expectant parents carrying babies with birth defects may be at a heightened risk for depression, anxiety and traumatic stress, and these are a few strategies on how to best take care of yourself or your loved one during this time.’”

In another, more recent first, the CFDT became the only fetal medicine program in the world to assess and treat the psychological challenges faced by these families. “There remains little in the scientific literature that touches upon the emotional challenges related to prenatal diagnosis,” says Joanna C.M. Cole, Ph.D., the Center’s dedicated clinical psychologist and the world’s only such support person within a fetal

Learning only a few months into pregnancy that the baby they are expecting has a birth defect can cause a family enormous stress. Despite the clear and obvious need for better psychological supports, little research has been written about what interventions work most effectively. Cole provides individual, couples and family psychotherapy to identify, understand and help balance the emotional toll of a complex pregnancy

“Mind, body and soul are connected. You can’t ignore the emotional component of what these families are going through. We are the center for excellence, not only medically but for the holistic care of our patients and families.” — Joanna C.M. Cole, Ph.D., Clinical Psychologist, Center for Fetal Diagnosis and Treatment

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within the context of a family’s other life stressors. She has embarked on the first known studies exploring the psychological impact of a prenatal birth defect diagnosis on families, developing the CFDT’s exclusive Mental Health Screening Tool to evaluate families for signs of depression and anxiety a few weeks after diagnosis. “Over the past year, we’ve screened close to 1,200 individuals,” she says. “Many expectant mothers and their partners report clinically significant symptoms of depression, anxiety and traumatic stress as a result of their prenatal diagnosis.” For these parents, the risk of experiencing such symptoms, says Cole, is much higher than the national average for parents expecting healthy babies. This prevalence has led her to research the understudied area of perinatal post-traumatic stress disorder, symptoms of which include anxiety, irritability, anger, overwhelming guilt, sleeplessness, hopelessness, memory and concentration problems, social avoidance, and upsetting dreams about the moment of diagnosis.

Joanna C.M. Cole, Ph.D., the world’s only dedicated clinical psychologist within a fetal center, has launched a new initiative at CHOP’s Center for Fetal Diagnosis and Treatment to: Identify expectant mothers and partners who are at highest risk for symptoms of depression, anxiety and traumatic stress. n

Develop, implement and study therapeutic interventions to address these symptoms. n

Counsel expectant parents and family members on effective coping strategies during the pregnancy to manage depression, anxiety and trauma symptoms, in order to decrease their symptoms in the postpartum period and beyond.

Cole’s services are provided to families free of charge, largely thanks to philanthropic support, including backing from the Friends of CHOP, grateful families and others who are committed to advancing the Hospital’s research, teaching and clinical priorities through vibrant fundraising efforts. In March, these public ambassadors for the Hospital raised money for Cole’s work by hosting Cheers for CHOP, a celebratory evening at Valley Forge Casino Resort with outstanding entertainment, cocktails, and an incredible silent and live auction.

hopes to create therapeutic support groups where parents can connect with and receive support from peers going through similar struggles.

With further support, Cole hopes to add three more screening points — immediately after birth, six months after birth and one year after discharge — to capture an even more comprehensive view of what parents are experiencing, so the Center’s psychosocial support team can direct them to any resources they need over the long term. Cole also

“These parents are at their most vulnerable, and they often feel helpless,” she says. “Our job is to validate their thoughts and feelings, provide guidance and support, and partner with them through their experience. That continuity of care — from a medical perspective and certainly a psychological perspective — is unbelievably unique.”

Educate CHOP staff and providers across the world on best practices to address the psychological needs of this unique population.

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Hope for Families Funds cover expenses for families in need of fetal care

ecause the CFDT provides care and expertise that can only be found at a few places worldwide, providing access to care for any family whose baby receives a prenatal diagnosis of a birth defect regardless of where they live or their financial circumstances has been a priority from the beginning. The Hope for Fetal Families Fund was created in 1996 by CHOP’s Women’s Committee so the Center could provide airfare, hotels, meals and support for other nonmedical needs, and countless donors have sustained that fund since. More recently, Jed and Mary Kelly created the Addison’s Hope for Fetal Families Fund after the CFDT saved the life of their daughter. In 2013, inspired by the Center’s vision, the Kelly family made a major gift to start an endowment — and set a goal of building the endowment to $1 million — to permanently ensure every family in need can provide their unborn baby with the best opportunity for a bright, healthy future. Once the $1 million goal is reached, the Addison’s Hope for Fetal Families Endowed Fund will provide $50,000 to use every year, offering incredible hope to families who are in an otherwise hopeless situation. Below are the stories of some of the more than 300 families (names have been changed) who have been helped over the years by the Kelly family and many other generous donors. When Sarah was pregnant, her baby was prenatally diagnosed with spina bifida. She and her husband, a mechanic, made the 13-hour drive from Chicago to Philadelphia — sleeping in their car along the way to save money — to be evaluated at CHOP for fetal surgery. When they arrived, they

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Addison’s Hope for Fetal Families Endowed Fund will ensure expectant parents will always be able to access the world-class care and services of the CFDT.

received support for three nights in a hotel until a room became available at Ronald McDonald House for the remainder of their stay, during which Sarah underwent fetal surgery. Pioneered by CHOP team members, fetal surgery for spina bifida greatly increases the likelihood that the baby will be able to walk independently and have improved neurologic function. Megan and her husband are an immigrant couple who live on Long Island; he works as a boiler operator at a school. They were able to get a ride to CHOP and arrange payment for one night in a hotel, but then learned they had to stay for a week for clinical reasons. They had no money to do this and received help paying for their stay in a hotel, as Ronald McDonald House was full. Amy came to CHOP from Billings, Montana with a significant personal medical history including 18 operations during her lifetime; she also has a son with heart problems who is treated in Denver. She came to CHOP after learning she was pregnant with a baby with congenital diaphragmatic hernia and many other complications. The baby was born in the Garbose Family Special Delivery Unit and had several surgeries over a three-month stay at CHOP. The family stayed at Ronald McDonald House throughout. The baby’s father works for the city of Billings and Amy does not work. While they were able to meet many of their expenses, they ultimately needed flight assistance to return home. Alice is a 16-year-old patient whose fiancé proposed to her when he found out she was

pregnant. Alice spoke English, but her fiancé only spoke Spanish. They traveled to CHOP from Lancaster, Pa., and ultimately had to relocate the day prior to their procedure for twin-twin transfusion syndrome and stay a week for follow-up. Alice only finished 10th grade and was not employed; her fiancé worked as a cook, and they had no support from family. They received funding for a hotel stay, as Ronald McDonald House was unavailable. Even as young parents, they were very compliant with medical instructions and extremely appreciative of the support.

Jennifer and her husband came from Kansas after their baby was prenatally diagnosed with spina bifida. Jennifer works at a youth facility and her husband is a computer programmer. They have three other children, all under age 10, and live paycheck to paycheck. They had to leave their other children in Kansas, fly to Philadelphia for evaluation and fetal surgery, and relocate through their baby’s stay in the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit. Assistance was provided so they could fly back to make arrangements for relocation and get their children settled, then return to Philadelphia where they were able to stay at Ronald McDonald House.

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Expressions of Gratitude

“We just want to continue to say thank you and give

A family gives back to CHOP through fundraising, planned giving

yan and Megan Fox learned their first child had a serious birth defect at their 20-week ultrasound. The doctor explained their son had a condition called congenital diaphragmatic hernia, or CDH, and immediately advised the couple to go to the Center for Fetal Diagnosis and Treatment at CHOP. In CDH, a hole remains in the diaphragm during fetal development, allowing the abdominal organs to intrude into the chest cavity, which impedes lung growth and can lead to pulmonary hypertension, i.e., high blood pressure in the lungs. It can be a life-threatening condition. On their first day at CHOP — after an array of imaging and testing and a tour of the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit (N/IICU) — the young couple met with obstetrician Mark Johnson, M.D., and surgeon Holly Hedrick, M.D., to discuss what would happen for the rest of the pregnancy and after their child was born. “Dr. Johnson said Sam was going to be born on what he called the better end of a serious problem,” Megan remembers. “He said, ‘Go home and bring out your bassinet. You’re having a baby.’ He brought that hope back.” Megan spent the last six weeks of her pregnancy in Philadelphia, being regularly monitored by CHOP physicians, and delivered in the Garbose Family Special Delivery Unit at CHOP at the end of February 2010. She got to hear her son, Sam,

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back, and to me, putting CHOP in our will is the ultimate way to do so.”

cry and touched his hand, and then he was taken to the N/IICU so he could get stronger for surgery to repair the CDH. The surgery was scheduled and cancelled repeatedly when Sam developed pulmonary hypertension and wasn’t quite strong enough for the procedure. But after 13 days, Hedrick patched the hole in Sam’s diaphragm, and he started to improve. About two months after he was born, Sam could leave the N/IICU and go home. “The N/IICU nurses were angels on earth. They wrapped their arms around all of us and really did everything they could to help us,” Megan says. In reflecting on the experience, she and Ryan started thinking about how they could give back to everyone at the Hospital who had helped them so much. To celebrate Sam’s first birthday, Megan set up a fundraising page on the CHOP Foundation’s website and raised more than $1,000 for the Center for Fetal Diagnosis and Treatment. They did it again for his third birthday, raising more than $4,000. “It was very simple, and it worked really well,” Megan says. “A lot of our fundraising was done on social media.” Ryan and Megan became energetic advocates for CHOP, encouraging friends, family and community members to give. And Ryan began to apply his dedication to helping the Hospital to his work, becoming a CHOP Legacy Advisor,

— Megan Fox, pictured here with her family. Sam is seated at left.

professional financial advisers who volunteer to discuss planned giving options with their clients, including the opportunities to support Children’s Hospital. He asks every client working on a will what they want to be remembered for, encouraging them to visit places they might like to support, get involved and ultimately consider leaving a percentage of their estate to the causes that mean the most to them. (Percentages are better choices for a will, Ryan says, because the value of your gift isn’t diminished by inflation and hopefully you end up able to give more than you could right now.) Beyond the professional advice, Ryan also shares his family’s story, the change in perspective he had as a result, and the impact becoming more focused and motivated with their giving has had on him and Megan — especially what joining CHOP’s Lewis Society, by putting the Hospital in their will, has meant to them. “We feel it is important to leave a significant portion of our net worth to something that has given us so much in life,” Ryan explains. “Part of recognizing that you are fortunate is

outwardly expressing, financially, that you want to ensure that others are given the opportunities you’ve had.” The opportunities Sam had because of CHOP have allowed him to grow into an energetic 4-year-old who builds snowmen with his dad and is in his first year of preschool. He comes to CHOP for checkups once or twice a year, but that is the only time his medical history is a focus. Most of the time, he is just a boy who plays with his younger brother and loves cars, trucks and ambulances. “I’m thankful every day when that kid comes in and wakes us up,” Megan says. “We just want to continue to say thank you and give back, and to me, putting CHOP in our will is the ultimate way to do so.” For information on creating a fundraising page to support CHOP visit: giftofchildhood.org/fundraisingpages. For information on planned giving options, contact Tom Yates at yatestg@email.chop.edu or 267-426-6472.

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A Light in the Darkness

“I couldn’t even tell you what she was saying. She was telling me there was some kind of problem,” Dana recalls. “We saw a genetic counselor that day. We went to a ton of doctors, all in New York, all supposed to be the best. They just threw their hands up. It could be nothing. It could be fatal.”

Fund for genetic testing lessens financial burden and uncertainty for families

Finally, Dana’s OB-GYN recommended they come to the Center for Fetal Diagnosis and Treatment at CHOP, saying they would figure out what was going on. After a day of tests at the Center, Mark Johnson, M.D., was able to share a probable diagnosis with the Van Tassels: BeckwithWiedemann syndrome, which was later confirmed by genetic testing.

Jamie Van Tassel (middle) with his older sisters

very mother-to-be seen by the Center for Fetal Diagnosis and Treatment meets with a genetic counselor, as part of her first appointment, to discuss family and medical histories. Every parent at the Center is already facing a pregnancy with a known birth defect; the genetic counseling can help uncover other things they may need to consider. And for some, further testing to determine if the child’s birth defect has a genetic basis can inform how mother and baby are treated. Knowing about genetic abnormalities can give families advance notice of issues their children may face down the road and allow them to prepare and provide the best possible care. Genetic counseling can also help parents in their future family planning. The most common genetic causes of birth defects are chromosomal issues, and the first step in genetic testing is a karyotype, a picture of all 23 pairs of chromosomes, obtained through amniocentesis. This identifies conditions caused by extra or missing chromosomes, such as Trisomy 21, in which a third copy of chromosome 21 leads to Down syndrome. “But there are many other chromosomal changes that can’t be picked up by this test; tiny pieces of chromosomes missing or extra ones,” says

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Sara Chadwick, M.P.H., M.S., C.G.C., the Center’s full-time licensed genetic counselor. “A microarray is a test that scans each chromosome looking for microdeletions and microduplications.” Much smaller variations of that sort are implicated in hundreds of conditions and can help provide diagnoses and other valuable information. Unfortunately, unlike the karyotypes, microarrays are not as readily covered by insurance, and the $2,000 cost can prevent some families who would benefit from the test from getting it. Dana and James Van Tassel know firsthand the value of getting answers about a child’s condition. At their 20-week ultrasound in New York, the technician mentioned their baby seemed to be carrying a lot of weight in his stomach. Dana asked her doctor about the ultrasound at her next appointment, but the maternal-fetal medicine specialist said the baby should be in the normal range and they would check again at 28 weeks. Unsettled, Dana went for another ultrasound at 24 weeks, and though she expected it to be a quick visit, she was left waiting for 25 minutes before a doctor came in to see her. The shock of what came next overwhelmed Dana. Her baby had enlarged kidneys and other symptoms of excessive growth.

“It is so scary, just not knowing. You feel so helpless. You don’t know what to do next,” Dana says. “Even though we were there for something so life-changing and stressful, I don’t think of it that way. They gave us hope when no one else could. They gave us the answers we needed.” Knowing what was causing the excessive growth — their baby also had an enlarged spleen, tongue and liver — the Van Tassels felt they could handle the challenges and knew what to do. Their son Jamie was born at 37 weeks, weighing 10 pounds 14 ounces, and he has been doing very well since. Every three months he is screened for cancer, since Beckwith carries an elevated risk, and Jamie comes to CHOP for other care. But Dana says she thinks of him as a healthy baby, he is doing so well. As he grows, his syndrome will become less and less of an issue. At age 5 and again at 8, the hormones at play in child development change, and his various risks will decrease. “He is going to grow into himself,” Dana explains. Dana and Jim wanted to give back to CHOP and the Center for the help they received, and they started to explore the needs here. They joined the Board of Visitors for the Division of General,

Thoracic and Fetal Surgery, helping to enhance awareness and philanthropic support for the division that houses the Center. And when they learned that the microarray can be cost-prohibitive to some families, they created the Van Tassel Family Fund. In just a few short months since funds became available to the Center, four families have benefited. All received normal results from the microarray, but even that can be a crucial step forward. One young mother, dealing with her first pregnancy without much support from anyone else, felt she could move forward coping with the birth defect being treated at the Center when she knew she wasn’t also going to face a chronic genetic condition after birth. For another family, confirmation that there wasn’t an underlying genetic condition allowed them to deliver in the Garbose Family Special Delivery Unit so their child could have heart surgery immediately after birth. Grateful for the help in such a challenging time, they plan to make a modest contribution to the fund themselves. They wrote the Van Tassels the following note:

This has been a road full of unknowns, twists and turns, each with a new surprise. Through it all, we’ve had the love of family, friends. This note is our appreciation, thankfulness, for the love from strangers. You. The financial impact of our disease has been burdensome. Your contribution has covered the genetic test for us. We will be forever grateful.

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Meet the Experts A behind-the-scenes look inside the Center for Fetal Diagnosis and Treatment

linicians in CHOP’s Center for Fetal Diagnosis and Treatment (CFDT) are able to do what to most people seems like science fiction: diagnose and even treat previously fatal or debilitating conditions while babies are still in the womb. To demystify that marvel a bit, the Center hosted a special scrubs-on tour in September 2013. More than 60 attendees — including representatives from birth defect advocacy

attendees rotated through a tour of the CFDT, Garbose Family Special Delivery Unit (SDU) and Center for Fetal Research, followed by a dessert reception. At various stops along the tour, CFDT experts gave brief presentations on the following topics:

groups, community partners, local and national media groups, donors (both individuals and foundations), and members of the Board of Visitors for the Division of General, Thoracic and Fetal Surgery — got a firsthand look at what is being done and a preview of what we hope to do in the future to improve treatment and develop new lifesaving procedures for babies with debilitating or life-threatening birth defects. After a light dinner and a welcome by N. Scott Adzick, M.D., M.M.M., CHOP’s Surgeon-in-Chief and Center director,

Fetal Surgery Top left: N. Scott Adzick, M.D., M.M.M., surgeon-in-chief and director, Center for Fetal Diagnosis and Treatment, describes the rationale for fetal spina bifida surgery in the world’s only dedicated fetal surgery operating room. Bottom left: Michelle Olkkola, R.N., B.S., M.S.N., (far left) points out the operating room’s many high-tech features.

Fetal Surgery For some babies, waiting until birth to repair a defect can cause permanent or fatal complications. In select cases, open fetal surgery — in which the mother’s womb is opened and the fetus undergoes surgery — can be performed to try to fix the problem. Since the CFDT was established more than 18 years ago, the team has performed more than 1,000 fetoscopic and open fetal surgeries, more than any other center in the world. Adzick, Clinical Level IV and Interim Clinical Supervisor Sue Scully, M.S.N., R.N., C.N.O.R., and Nurse Manager of the SDU Michelle Olkkola, R.N., B.S., M.S.N., led a tour of the only dedicated fetal surgery operating room in the world. Special Delivery The Garbose Family Special Delivery Unit (SDU), the world’s first comprehensive medical unit for mothers carrying a fetus with a known birth defect, was established six years ago thanks to the leadership of Lori J. Howell, M.S., R.N., the Center’s executive director, and a major gift from CHOP Trustee Lynne Garbose and her husband Bill. Howell and Garbose shared their stories and gave attendees an inside look at one of the rooms within the state-of-the-art, eightbed labor and delivery unit, which provides the most comprehensive care for families. Already more than 1,700 babies have been delivered in the unit since it opened in 2008.

Special Delivery Top: Lynne Garbose, trustee, (left), and Lori Howell, M.S., R.N., executive director, share how the Garbose Family Special Delivery Unit came to be and what it offers families. Bottom: Visitors got a look inside the Garbose Family Special Delivery Unit — the world’s first comprehensive delivery unit for mothers carrying a fetus with a known birth defect.

continued >

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Research Far left: Marcus Davey, Ph.D., describes a new fetal therapy, which is on the verge of FDA approval and has the potential to improve survival and longterm outcomes for babies with congenital diaphragmatic hernia (CDH). Top right: Holly Hedrick, M.D., discussed the promising new fetal therapy for babies with CDH. Bottom right: Alan Flake, M.D., talks about his research lab’s focus on fetal stem cell and gene therapy.

< continued Research Alan W. Flake, M.D., fetal surgeon and director of the CFDT’s Center for Fetal Research, is at the forefront of cutting-edge studies aimed at treating genetic disorders before birth. He discussed his pioneering work to develop a cure for sickle cell disease — a genetic disorder that affects 100,000 children in the U.S. and millions more worldwide — in which bone marrow stem cells from the mother are transplanted into the fetus before the immune system develops. He hopes to begin clinical trials of the procedure within just a few years.

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Every day, at least four families in the U.S. learn that the child they are expecting has a congenital diaphragmatic hernia (CDH), a birth defect in which an opening in the diaphragm allows abdominal organs to move up into the chest cavity, crowding the lungs and preventing their normal growth. CDH is one of the most devastating birth defects treated in the Center, with survival rates of 70 percent. Holly Hedrick, M.D., fetal surgeon and director of the Pulmonary Hypoplasia Program, and researcher Marcus Davey, Ph.D., discussed a new fetal therapy, on the verge of FDA approval, that helps to expand the lungs before birth and has the potential to improve survival and outcomes for these fragile babies, who often experience long-term complications after birth.

Minimally Invasive Fetal Surgery Mark P. Johnson, M.D., the Center’s obstetrical director, presented state-of-the-art minimally invasive fetal surgical procedures for birth defects that he and his colleagues perform in the Center. Minimally invasive surgery allows a surgeon to operate through tiny incisions, using specially designed instruments. Johnson described the various operations and gave guests the opportunity to see and hold the instruments utilized in these procedures. Psychological Support Depression, anxiety and trauma during and after pregnancy is unfortunately common among families undergoing a pregnancy complicated by a birth defect. Julie S. Moldenhauer, M.D., medical director of the SDU, and clinical psychologist Joanna Cole, Ph.D., discussed the support services the CFDT offers to help families cope, including the Perinatal Palliative Care and Bereavement Program, created with generous support from Thomas Evans and Mike and Kendall Heath, for families anticipating the loss of a precious child before or shortly after birth. The CFDT is engaged in the world’s first studies to examine the psychological impact of prenatal diagnoses and determine which therapeutic interventions are most beneficial for families. Learn more about the CFDT’s commitment to psychosocial care in the story on Page 10.

Interested in a tour of the Center? Contact Becky Rohtbart at 267-426-6529 or rohtbartr@email.chop.edu.

Minimally Invasive Fetal Surgery Mark Johnson, M.D., describes work he is leading to develop state-of-the-art minimally invasive fetal surgical procedures for birth defects.

Psychological Support Joanna Cole, Ph.D., clinical psychologist, (left) and Julie S. Moldenhauer, M.D., medical director of the SDU, talked about the wide spectrum of medical and psychosocial services available for CFDT patients.

A R e p o r t o n Yo u r I n v e s t m e n t i n H o p e

A Clear Vision New center offers families enhanced information on birth defects outcomes

diligent effort by many generous donors and the Center for Fetal Diagnosis and Treatment’s dedicated clinical and research staff has led to significant progress towards the creation of the Center for Birth Defects Outcomes (CBDO) in the past year. The CBDO will eventually integrate all of the information from prenatal diagnosis relevant to a child’s health with clinical and genomic databases throughout Children’s Hospital to enable research into the long-term outcomes for each treatment for any birth defect. For these rare birth defects, understanding what can be done to give a baby the best chance for survival in the short term and what implications these treatments have for a child’s life in the future will be incredibly powerful for educating parents as well as referring physicians, optimizing care and establishing best practices that can improve care for these fragile patients everywhere. “Ultimately, the vision is to have the outcomes information available in real-time online for all birth defects treated within the CFDT, so that when families are in their doctor’s office and hear an unfamiliar diagnosis for the first time, they can easily access quality information about patients who have had the same diagnosis as well as the volumes and outcomes for these rare problems,” says Lori J. Howell, M.S., R.N., executive director of the CFDT, who is leading the creation of the CBDO. The infrastructure to collect, organize and make available this outcomes data took a major

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“Ultimately, the vision is to have the outcomes information available in real-time online for all birth defects treated within the CFDT.” — Lori J. Howell, M.S., R.N., Executive Director of the Center for Fetal Diagnosis and Treatment

step forward over the past year as CFDT study coordinators, clinical research coordinators, data entry staff, fellows and residents helped bring seven databases online, covering the most commonly seen conditions and priorities. Some of the work has been supported by unrestricted gifts to the CFDT, while other progress has been made by coordinating specific research backed by committed donors with the larger vision. Laura and Adam Epstein fall into this second category. In 2009, their daughters, Rose and Madeline, were treated at CHOP for Twin-Twin Transfusion Syndrome (TTTS), a life-threatening condition in which twins joined by one placenta suffer from an unequal blood flow, with one twin receiving too much blood and the other not enough.

Three days after a comprehensive evaluation at the Center, fetal surgeons successfully operated on the twins in utero. The Epsteins returned home, and a few months later, the girls were born healthy and full term. Yet many questions remained about the long-term prognosis of children like Rose and Madeline.

Outcomes Databases with Real-Time Data Entry Implemented in the Past Year

To address that need, the Epsteins and the Conway Family Foundation, a philanthropic organization run by the grandparents of these young TTTS survivors, funded a multiyear study at CHOP to look at the neurocognitive and cardiovascular effects of TTTS in twins through age 2. Their goals are to provide families more accurate information on what to expect both before and after birth and to identify any additional long-term consequences — goals which dovetail exactly with the objectives of the CBDO.

n Fetal Myelomeningocele Post MOMS Trial

The Epstein and Conway families’ support led to a database focused on TTTS, which is one of the seven initial databases of the CBDO. It also produced some of the first clinical research results from the larger effort. Maternal-fetal medicine and clinical genetics specialist Nahla Khalek, M.D., led the analysis of two-year neurodevelopmental outcomes in twins with TTTS who underwent fetoscopic surgery to correct the problem. Her study showed these children are likely to show normal neurodevelopmental development at age 2, providing evidence that can reassure parents and validates the use of the procedure in the future. Khalek shared the results in a plenary session presentation at the Society for Maternal-Fetal Medicine.

n Maternal Mental Health Registry

Khalek’s TTTS study is an exemplar of the research that will be possible by having integrated, real-time databases on all birth defect treatments and outcomes. Shelly Soni, M.D., a fellow who works in the CFDT on outcomes research, is already seeing the benefits.

n Special Delivery Unit Registry

n Pulmonary Hypoplasia

Program Registry

n Twin-Twin Transfusion

Syndrome 24-month follow up n Monochorionic Twins Registry

n Lung Lesion Comprehensive

Review and Registry

“It is really useful now because you can extract a lot of data at the same time,” Soni says. Previously, studies like those done by Khalek and Soni required physicians spending their weekends manually flipping through and reading hundreds of patients’ charts. “The Center for Birth Defects Outcomes will provide parents and doctors powerful new information on what to expect and how to prepare,” says N. Scott Adzick, M.D., M.M.M., Surgeon-in-Chief and CFDT director, who has personally invested in the creation of the CBDO as a donor himself. “Everything we do is to give these families the best possible futures, and the CBDO will extend that work even further.”

A R e p o r t o n Yo u r I n v e s t m e n t i n H o p e

Endowed Chairs C. Everett Koop Endowed Chair in Pediatric Surgery N. Scott Adzick, M.D., M.M.M., F.A.C.S., F.A.A.P.

Let Your Legacy Be the Gift of Childhood

Ruth M. and Tristram C. Colket, Jr. Endowed Chair in Pediatric Surgery Alan W. Flake, M.D., F.A.C.S., F.A.A.P. Josephine J. and John M. Templeton Jr. Endowed Chair in Pediatric Trauma Michael L. Nance, M.D., F.A.C.S., F.A.A.P. George Leib Harrison Endowed Chair in Fetal Therapy Mark P. Johnson, M.D., M.S. Louise Schnaufer Endowed Chair in Pediatric Surgery Holly L. Hedrick, M.D., F.A.C.S.

Endowed Fellowships Louise Schnaufer Fellowship in Pediatric Surgery (clinical) Stephen J. Fenton, M.D. William Maul Measey Fellowship in Pediatric and Fetal Surgery (research) Emily Partridge, M.D., Ph.D.

Our care, our research, our teaching.

Board of Visitors The Board of Visitors is an appointed board of community leaders who believe in the mission of Children’s Hospital and are committed to advancing CHOP’s excellence in pediatric and fetal surgery by promoting philanthropic support, raising public awareness and providing volunteer leadership. Jami and Joel Friedman (Co-Chairs) Laura and Adam Epstein Ariele and Steve Gordon Kendall and Mike Heath

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Xavier, 10 months, was diagnosed before birth with a congenital heart defect and was born in the Garbose Family Special Delivery Unit.

Jesse Jantzen Mary and Jed Kelly Nora and Jeffrey Nazzaro Dana and Jim Van Tassel

They all rely on gifts from Children’s Hospital supporters, now and in the future. Many of the most important and enduring gifts to CHOP have been legacy gifts. Including Children’s Hospital in your will or as a beneficiary of a retirement plan is one of the easiest ways to invest in the health and well-being of future generations of children. These gifts won’t affect your current cash flow and may even help reduce taxes for loved ones. If you have already made a planned gift to CHOP, thank you, and please let us know. We can help you designate your gift to a specific Hospital program, and we’ll invite you to join the Lewis Society, a select group of supporters who have included Children’s Hospital in their plans. Visit us at giftofchildhood.org/plannedgiving to learn more, or contact Tom Yates at 267-426-6472 or yatestg@email.chop.edu.

w w w. g i f t o f c h i l d h o o d . o r g

/plannedgiving

On the cover: Ellie, 25 days after birth in the Garbose Family Special Delivery Unit, with her mom, who traveled from China for care at the Center for Fetal Diagnosis and Treatment.

Thank You. Twelve Stories of Glass and Steel.

A Million Stories of Hope.

BUILDING HOPE is our campaign to raise money for CHOP’s new Buerger Center for Advanced Pediatric Care, the finest pediatric outpatient facility in the world. You can have your name inscribed in the Buerger Center in appreciation of a donation of $500 or more.

Make your mark — visit chopbuildinghope.org to learn more.

The Division of General, Thoracic and Fetal Surgery at The Children’s Hospital of Philadelphia was established by C. Everett Koop, M.D., in 1946 as the first pediatric surgical program in Philadelphia — and the second in North America. Throughout its long history, the Division has provided some of the finest, most compassionate multidisciplinary care in the nation, and has continued to pioneer advances to improve the lives of children for generations to come. The Center for Fetal Diagnosis and Treatment, founded in 1995 by N. Scott Adzick, M.D., M.M.M., allows us to dedicate these unparalleled resources to the care of babies even before birth. The stories of hope, innovation and progress within this report are possible thanks to the support of generous families. To learn about how you can help, contact Becky Rohtbart at 267-426-6529 or rohtbartr@email.chop.edu, or visit GiftofChildhood.org.

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The Children’s Hospital of Philadelphia is ranked No. 1 in the nation by Parents magazine and is No. 1 on U.S.News & World Report’s 2013–2014 Honor Roll of the nation’s Best Children’s Hospitals. CHOP has also been awarded Magnet status by the American Nurses Credentialing Center.