Children's View Spring 2010

Justin,3, neurology patient

Hope lives here.

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Also Inside Promising Cardiac Study Center for Cornelia de Lange Syndrome

Contents

Invest

Spring 2010 3

The View from Here

4

CHOP News Roundup

In Hope.

8 – Cover Story 13 Rare Diseases, Uncommon Expertise 14

Family Focus Center for Cornelia de Lange Syndrome

16

View Calendar March – August 2010

18

Volunteers in Philanthropy

20

Pediatric Research Promising Cardiac Study

22

ViewPoint Chris Feudtner, M.D., Ph.D., M.P.H.

On the Cover: Emily Hurtado, now 2, had surgery at Children’s Hospital that cured her congenital hyperinsulinism.

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The View from Here One child in 10,000 is born with Cornelia de Lange syndrome.

One in 50,000 will develop Friedreich’s ataxia. One in 25,000 to 50,000 has congenital hyperinsulinism. These devastating diseases are so rare that a pediatrician can practice an entire career without encountering one patient with any of them.

But at The Children’s Hospital of Philadelphia, rare conditions are commonplace. An institution like CHOP, which attracts outstanding specialists and researchers in so many disciplines, is uniquely equipped to recognize, understand and deliver the latest treatments for rare diseases. Many of the specialized programs at CHOP (several are profiled on Pages 8 – 13) are the largest of their kind in the world and offer hope to families from all over the globe. Families find comfort that our specialists often know more about their child’s condition than anyone, anywhere.

Through research, we are constantly finding new and better ways to help patients with rare diseases, and those with common ones, too. On Page 20, you will learn about a recent breakthrough that improves quality of life for children with single ventricle anomalies, a group of complex heart defects. And our research on autism and blindness has been recognized as among the most important scientific achievements of 2009 by three major publications (see Page 6).

An institution that leads in clinical care and research must also be a leader in the ethical issues surrounding pediatric medicine.

Chris Feudtner, M.D., Ph.D., M.P.H., director of the Hospital’s Department of Medical Ethics, explains his role in leading this innovative program on Page 22.

Children’s Hospital will continue to be the place that offers healing and hope to children with a wide range of diseases, even the rarest, because of generous donors like you. Thank you for your support now and in the future.

Steven M. Altschuler, M.D. President and Chief Executive Officer

Children’s View Steven M. Altschuler, M.D. President and Chief Executive Officer Stuart P. Sullivan Executive Vice President and Chief Development Officer Mark Turbiville Assistant Vice President, Communications and Donor Relations Kim Caulfield Director, Development Communications Paul Dunn, Rebecca Elias Contributing Writers Stephanie Hogarth Chief Marketing Officer Linda Lightner Creative Director Zan Hale Managing Editor Jennifer Linden Art Director Sara Barton, Jessa Stephens Senior Writers Sandra Gravinese Production Manager Ed Cunicelli Principal Photography Paul Crane, Dominic Episcopo, Graham Studios, Oscar Izarra, Amanda Lee, Javier Mitchell Additional Photography Children’s View is produced by the Marketing Department of The Children’s Hospital of Philadelphia and The Children’s Hospital of Philadelphia Foundation.

Comments and inquiries should be addressed to: Editor, Children’s View Public Relations, Communications and Marketing Department The Children’s Hospital of Philadelphia 34th Street and Civic Center Boulevard Philadelphia, PA 19104-4399 giving@email.chop.edu Prefer to receive Children’s View electronically? E-mail your name and address from the back cover to ViewOnline@email.chop.edu and you’ll get a message with the link to each new issue when it’s published.

Read it online at GiftofChildhood.org (click on “publications”).

Children’s View 3

ViewNews CHOP News Roundup hopefully provide them with additional quality of life and life expectancy.”

His team began enrolling WAS patients on a clinical trial of interleukin-2 a few months ago.

“This is something you do because you’re drawn to the questions, you’re drawn to the patients, you’re drawn to trying to do better,” says Orange. The fact he received an award for doing it, he says, “still feels very surreal to me.” n

Researchers Find ADHD Is Caused by Many Genes

Awards recognize the pioneering research of Jordan Orange, M.D., Ph.D.

CHOP Physician-scientist Receives Prestigious American Philosophical Society Award Jordan Orange, M.D., Ph.D., a renowned CHOP immunologist, is the first to admit he’s not a morning person.

So why is he usually at work in the Leonard and Madlyn Abramson Pediatric Research Center every morning by 6 a.m.?

“There’s not enough time to do the things I want to do,” he says. “I just get up earlier and earlier.”

His diligence has earned him two honors. On Nov. 13, 2009, the American Philosophical Society recognized Orange’s extraordinary commitment to patientfocused research when it awarded him the prestigious Judson Daland Prize for Outstanding Achievement in Clinical Investigation. In April, he will be inducted into the American Society for Clinical Investigation, one of the oldest and most esteemed organizations of physicianscientists. Members must be 45 years old or younger, recognizing significant contributions at a relatively young age.

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Orange’s work focuses on primary immunodeficiency diseases (PIDs), which occur when part of the immune system is missing or defective, making patients more susceptible to infections and cancer.

Physicians at Children’s Hospital follow more than 1,200 patients with these rare and difficult-to-diagnose diseases.

Orange is particularly interested in PIDs that involve the natural killer (NK) cells, the body’s first line of defense against disease. “NK cell deficiencies are very rare, but they’re also very instructive, because they teach us about the importance of these cells and how they work,” he says.

Orange and his team believe that interleukin-2, an immune-system-boosting drug used to treat melanoma and kidney cancer, has the potential to help patients who have Wiskott-Aldrich syndrome (WAS), an extremely rare primary immunodeficiency disease that affects patients’ NK cells. Patients with WAS often die before they reach adolescence.

“We hypothesized that if we were to give this to patients,” he says, “we might be able to restore their immune function and increase their resistance against cancer and certain types of viral infections — and

Researchers at CHOP recently identified more than 200 gene variants that occur more frequently in children with attention-deficit hyperactivity disorder (ADHD), the most common neuropsychiatric disorder in children.

Using highly automated geneanalyzing technology at CHOP’s Center for Biomedical Informatics and Center for Applied Genomics (CAG), DNA samples from 335 ADHD patients were compared to those of more than 2,000 unrelated healthy children from CHOP’s Care Network. According to the study’s lead authors, Josephine Elia, M.D., comedical director of the Center for Management of ADHD, and Xiaowu Gai, Ph.D., director of the Bioinformatics Core Facility, these gene variations are involved in learning, behavior, the transmission of messages between nervous cells and development of the central nervous system.

These findings are exciting since researchers will now apply genetic models that will look at ADHD more broadly. This will eventually lead to the development of diagnostic tests, individualized treatment and possibly cures for children with ADHD. Along with Elia, co-leaders on the study were Peter S. White, Ph.D., a molecular geneticist and director of the Hospital’s Center for Biomedical Informatics, and Hakon Hakonarson, M.D., Ph.D., director of CAG. The study’s findings appeared online in the journal Molecular Psychiatry. n

Campaign Celebration The Children’s Hospital of Philadelphia celebrated the close of the Hope Lives Here campaign with a special reception to honor the Hospital’s most dedicated supporters. More than 200 guests gathered Sept. 17, 2009, at Karamoor, the magnificent estate owned by CHOP supporters Nicholas and Athena Karabots (shown at right, cutting the CHOP cake with Robin and Steven M. Altschuler, M.D., CHOP president and CEO).

In addition to donors to the campaign, Carousel Ball benefactors and Circle of Care members were also honored at this event. The largest fundraising effort in the Hospital’s 155-year history, the Hope Lives Here campaign raised $476.5 million over the course of seven years and had exceeded its goal by $76.5 million at its June 30, 2009, conclusion. n continued >

Oncology Researcher to Lead International Group CHOP pediatric oncologist and researcher Peter C. Adamson, M.D. (right), takes the reins of the international research consortium, Children’s Oncology Group (COG), with a sense of urgency.

“For children with cancer, every month counts,” says Adamson, who was elected to a five-year term as COG chair in November 2009.

The more researchers learn about pediatric oncology, the greater the hope for better treatments with fewer side effects, improving outcomes for children with cancer. While overall, 80 percent of cancer patients survive, some types of cancer have a much grimmer prognosis, and 40 percent of patients who do survive struggle with the significant damage their treatment does to their bodies.

COG’s role is critical because the consortium oversees almost all major clinical pediatric oncology trials for new treatments or regimens through its more than 5,000 experts in childhood cancer at more than 200 leading children’s hospitals, universities and cancer centers across North America, Australia, New Zealand and Europe.

Adamson has set a goal of reducing the time between a new therapy proposal and the start of a new clinical trial,

which now stands at an average of 2½ years.

“Part of my job will be to rethink how we move laboratory discoveries into the clinic,” he says.

Emerging research shows that even the more common childhood cancers are actually a mix of different diseases, each potentially requiring a different specific therapy. Creating such disease-targeted therapies for children with cancer requires a better pathway for moving from the bench to the bedside. Adamson will lead that effort by expanding COG’s role at Children’s Hospital and fostering new and enhanced collaborations with COG sites throughout the world.

“Children’s Hospital will be at the epicenter of the fight to cure childhood cancer,” says Adamson, who is transitioning away from his roles as director of Clinical and Translational Research and chief of the Division of Clinical Pharmacology and Therapeutics at Children’s Hospital to focus on COG duties. “CHOP provides the infrastructure and foundation necessary for national and international pediatric research leadership.

This gives us another opportunity to build upon our strong record of leadership in childhood cancer research.” n

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ViewNews continued CHOP Oncology Researcher Elected to Institute of Medicine In October, Tom Curran, Ph.D., FRS (right), deputy scientific director of The Children’s Hospital of Philadelphia Research Institute, was elected to the Institute of Medicine, a nonprofit that recognizes individuals who have made significant contributions to the field of medicine and educates the government and the public about health and medical issues. Curran is the sixth CHOP staff member to be elected to this prestigious organization.

Curran, who holds the Mai and Harry F. West Endowed Chair in Pediatric Research, is best known for his research

on pediatric brain tumors and his efforts to find better treatments for patients who suffer from them.

It’s a quest he began in 1996, when he met medulloblastoma patients who had been cured of their disease. One teen had great difficulty walking, and his mother

reported that he was struggling in school.

His physician attributed both problems to treatments the boy had received.

It was a career-changing moment for Curran. “I wanted to develop drugs that wouldn’t have side effects,” he says.

He and his colleague Peter Phillips, M.D., may be close to reaching that goal. Their work recently led to a clinical trial of a compound that targets specific gene mutations associated with medulloblastoma.

It’s been 14 years since Curran met the patients who continue to inspire his research, and he encourages his research staff to seek out similar connections: “The perspective you get,” he says, “will last for a lifetime.” n

Genetic Advances Make Headlines Gene Therapy Helps More Patients Regain Their Sight Researchers at Children’s Hospital have taken another huge stride toward a cure for congenital blindness.

Results from a breakthrough study show that gene therapy has restored significant vision in a dozen more CHOP patients with congenital blindness. This is an extension of a preliminary CHOP study on three young adults published last year.

The Center for Cellular and Molecular Therapeutics (CCMT) at CHOP used a single injection of genes that produce light-sensitive pigments in the back of the eye to safely improve vision in five children and seven adults with Leber’s congenital amaurosis (LCA). The greatest improvements occurred in the children, all of whom are now able to navigate a low-light obstacle course.

“This result is an exciting one for the entire field of gene therapy,” says Katherine A. High, M.D., co-first author of the study and the director of CCMT. “This study reports dramatic results in restoring vision to patients who previously had no options for treatment.”

Eyesight in half the patients (six of 12) improved enough that they may no longer be classified as legally blind.

“Children who were treated with gene therapy are now able to walk and play just like any normally sighted child,” says co-first author Albert M. Maguire, M.D., a physician at CHOP. “They can also carry out classroom activities without visual aids.”

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The study may lay the foundation for new treatments for other eye diseases. “These findings may expedite development of gene therapy for more common retinal diseases, such as agerelated macular degeneration,” High says.

The research received significant philanthropic support, including funding from an anonymous donor, the Foundation Fighting Blindness, the Macula Vision Research Foundation, the Paul and Evanina Mackall Foundation Trust at the Scheie Eye Institute, and the F.M. Kirby Foundation.

The study team reported its findings online in The Lancet. n

Autism Genes, Blindness Study Cited as Leading Discoveries of 2009 Three publications — Time magazine, Discover magazine and the journal Science — recognized research at Children’s Hospital as among the top scientific achievements in 2009.

The magazines praised CHOP’s study of gene therapy for blindness (see story at left) and the largest-ever genetic study of autism spectrum disorders (ASDs), which identified DNA variations that account for as many as 15 percent of all ASD cases.

Time put the autism gene study among its top 10 medical breakthroughs of 2009. The story noted that the research, led

by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics, represented a possible genetic clue to the recent rise in ASD cases reported in the United States.

Discover cited both studies in covering the 100 top science stories of 2009, and Science touted the blindness study among the runners-up for Breakthrough of the Year. n

Volunteer Chairs Energize CHOP’s Giving Societies A trustee at Children’s Hospital since 1986, Mark Fishman has always found the case for giving to the Hospital personally compelling: “I support CHOP financially for a number of reasons. The Hospital is run efficiently, so I feel I am making a good investment with my philanthropic dollars.

Since the Hospital is world-class, I feel like my dollars can benefit many children for years to come. It’s fantastic to help an institution that does so much for our community as well as the world.”

This year, Fishman decided to give in an even more personal way by becoming the first-ever volunteer chair of Children’s Circle of Care (CCC), which advances philanthropy at select children’s hospitals in North America through the education and recognition of leading benefactors.

Members of CCC at CHOP are individuals, family foundations or privately held companies that gave $10,000 or more to Children’s Hospital in the last calendar year.

Fishman, who also chairs the board’s Education, Advocacy and Talent Committee, is well aware of the role philanthropy will have to play in the future success of the Hospital.

“The greatest challenge facing the Hospital is that at some point, regardless of what happens in Washington, we will be faced with reimbursements that won’t cover our costs,” he says. Circle of Care members help ensure that CHOP maintains its No. 1 status, and that we won’t have to make those difficult decisions about whether to favor supporting research over clinical care.” n George Reath’s family has been involved with the Hospital for more than three generations, both as volunteers and as patients. Reath served on the board until 2004, and his father and uncle both had distinguished tenures as trustees, helping

Mark Fishman

Starting in 2010, philanthropy at Children’s Hospital will be energized by the leadership of the first volunteer chairs for CHOP’s giving societies —

Children’s Circle of Care, The Founders Society and The Lewis Society.

Children’s Hospital is grateful for the generous gifts of time and leadership from these dedicated volunteers. to launch Daisy Day and the Carousel Ball, now both signature CHOP events.

C. Everett Koop, M.D., D.Sci., operated on Reath’s brother nearly 60 years ago, and his grandson underwent cardiac surgery at CHOP when he was just 4 days old. From the boardroom to the OR, the Reath family has seen CHOP’s excellence firsthand.

Now as volunteer chair of The Lewis Society, which recognizes donors who have included CHOP in their long-term financial plans, Reath is enthusiastic about the enormous positive impact legacy gifts can have on the lives of children — and donors.

“When I found out that I could partner with CHOP by establishing a charitable gift annuity — a legacy gift that not only helps sick children, but also pays

George Reath

Clark Hooper Baruch

an annual income for life — I jumped at the opportunity, and I see it as a great investment for anyone. Here is a chance to not just continue a tradition of excellence in my lifetime, but extend it far into the future.” n For Founders Society volunteer chair Clark Hooper Baruch, the Hospital’s “unparalleled medical expertise,” its “awe-inspiring” research and the “overwhelmingly genuine care and concern that each member of the CHOP team gives to patients and their families” took on a special meaning shortly after she joined the Hospital’s board in 2005.

When Baruch discovered that a pregnant friend in Washington, D.C., was carrying a child with a rare defect that would require immediate medical attention after birth, she urged her to consider CHOP’s world-renowned Center for Fetal Diagnosis and Treatment.

Shortly after meeting with director N. Scott Adzick, M.D., M.M.M., her friend was convinced her baby should be treated at CHOP. Baruch was particularly impressed by the way CHOP’s physicians not only described the complicated procedures the child would need, but also the gentle way they would care for the baby after birth. Baruch says, “It was an amazing union of knowledge and compassion.”

As the first volunteer chair of The Founders Society, which honors individuals and family foundations that give $1,000 or more to CHOP in a fiscal year, Baruch believes that enhancing the Hospital’s tradition of philanthropy will be critical in helping CHOP achieve its goals in an uncertain future: “I cannot imagine a better way to make an investment impacting the present and future health of children all over the world.” n Children’s View 7

Rare Diseases, Uncommon Expertise CHOP Offers Healing and Hope to Children with Seldom-seen Conditions

Charles A. Stanley, M.D., director of the Congenital Hyperinsulinism Center, with Paola Penaherrera and Emily, then 1, when they were at Children’s Hospital for Emily’s surgery. At right, the family today: Paola, Emily, sister Katte and father Danny Hurtado.

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For almost a year, Paola Penaherrera and Danny Hurtado barely slept. Their baby, Emily, had been diagnosed with congenital hyperinsulinism (HI), and they lived in fear Emily’s blood sugar would drop so low she would suffer brain damage.

“It was so dreadful, so exhausting,” Paola says, recalling how she would check Emily’s blood sugar at least every two hours.

Medication and a feeding tube were helping Emily, but weren’t enough.

“We tried to make a normal life for her, but it was impossible,” Paola says. HI is extremely rare, affecting only one in 25,000 to 50,000 babies. In Quito, Ecuador, where the family lives, few doctors have heard of it; still fewer know how to treat it.

Think of HI as the opposite of diabetes. Instead of the pancreas failing to produce enough insulin to keep blood sugars in an acceptable range, it produces too much insulin, suppressing blood sugars to a dangerously low level. Without enough sugar (glucose) in the blood, children are at risk for brain damage, seizures, mental retardation, blindness, cerebral palsy and death.

Even in the United States, only a handful of hospitals have the expertise to offer the most advanced treatments. The HI program at The Children’s Hospital of Philadelphia has treated more than 400 patients and performed 240 surgeries over the past 11 years, making it the largest and most experienced program in the world.

It’s just one of many Children’s Hospital programs that offer hope to children with rare illnesses and disorders.

CHOP’s unique combination of patient volume, latest technology, cuttingedge research and skilled practitioners makes it a magnet for families from around the country — and, like the Hurtados, from around the world — that need specialized treatment. (See Pages 10 – 13 for a sampling of some of these programs.)

“Children’s Hospital is in a unique position to give the most comprehensive treatment to children with diseases and conditions that most people have never even heard about,” says Physician-inChief Alan R. Cohen, M.D., chair of the Department of Pediatrics. “At CHOP, a rare disease isn’t all that rare. Because of our reach and unparalleled expertise, we’ve seen it before, treated it before and probably care for more children with it than any other place.”

Emily was diagnosed with HI at 5 months after being hospitalized for a throat infection. She spent 23 days in the hospital in Quito as doctors tried to get

her condition under control. “She was so sick,” Paola says. “She was throwing up all the time. She was so unhappy, crying and shouting. She even pulled out her G-tube often. Her insulin would still go up and up.”

Desperate for answers, Paola searched the Internet for information and eventually

connected with a mother in Argentina whose son had HI. “She told me about this doctor at The Children’s Hospital of Philadelphia who could help me,” Paola says. “I reached out to Dr. De León, and she helped us.

She talked with our doctors in Ecuador, continued >

International Medicine

Extending CHOP’s Reach Around the World Because doctors, nurses and researchers at Children’s Hospital are world leaders in children’s healthcare, families across the globe turn to us for help and hope.

CHOP receives more than 400 inquiries each year from families outside the United States seeking treatment in cardiac care, cancer care, endocrinology, orthopaedics, neurology, plastic surgery, urology and many other areas.

For children with rare conditions, Children’s Hospital may be the only place that offers needed treatment.

The CHOP International Medicine Services team works with families to decide if treatment at Children’s Hospital is a viable option and helps those who do come here navigate their medical appointments and their stay in Philadelphia.

After a family sends its child’s complete medical record, in English, CHOP physicians and other staff review it to see if our services are appropriate.

Once a family decides to travel here for treatment, the International Care Connection team is the link between the Hospital and families, embassies, physicians in the home country and others. The team helps obtain medical documentation required for travel visas, schedule appointments, arrange for Hospital interpreters (provided free of charge), arrange appropriate meals for inpatients and coordinate follow-up care after treatment is finished. n

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< continued

Diva De León-Crutchlow, M.D.

and she told me at CHOP there may be a surgery that will heal Emily.”

Diva De León-Crutchlow, M.D., an endocrinologist, is on the team of CHOP’s Congenital Hyperinsulinism Center, which treats more HI patients than any other program in the United States. First, De León-Crutchlow consulted with Emily’s local doctors and advised them on Emily’s treatment.

Then, working with CHOP’s International Medicine Services, she arranged for Emily, then 1 year old, to come to Philadelphia for treatment in September 2008. In Emily’s case, surgery gave her what other treatments could not: the normal life her family wanted for her.

“She was cured by the surgery,” says De León-Crutchlow. “Emily is the perfect example of what the Congenital Hyperinsulinism Center and CHOP can offer. This little girl, who had been connected to a feeding pump 24 hours a day, can now do everything a child her age can do without concerns of hypoglycemia.”

“Emily’s congenital hyperinsulinism was cured by the surgery.”

– Diva De León-Crutchlow, M.D. Emily was a candidate for surgery because she had focal HI, as opposed to diffuse HI. Special cells in the pancreas called beta cells make insulin. HI occurs when the beta cells don’t work as they should.

In diffuse cases (44 percent of patients), the misbehaving beta cells are throughout the pancreas. Some patients can control diffuse HI with a medication called diazoxide; others need to have 98 percent of the pancreas removed (a pancreatectomy), which may leave them insulin-dependent for life. continued >

Reflex Neurovascular Dystrophy

Most Precious Gift: Tools to Keep Pain Away Children come to CHOP’s Reflex Neurovascular Dystrophy (RND) Program with incredible pain. After a three- to four-week inpatient stay, they leave pain-free.

But the greatest gift the program gives its patients is the ability to treat themselves so they can avoid future RND episodes and have normal, pain-free lives.

With RND, also known as amplified musculoskeletal pain, pain is magnified. Normally, a pain signal is transmitted from the point of injury to the spinal cord, and then to the brain. In a person with RND, the signal is short-circuited in the spine and travels not only to the brain but also out through neurovascular nerves that control blood flow. This causes the blood vessels to constrict, leading to a lack of oxygen and a buildup of lactic acid, causing additional pain, which also travels up the spine to the brain. The original pain is amplified many times over.

As many as 18 Children’s Hospital staff, including nurses, physicians, physical therapists, psychologists, nutritionists and others, work with the child to desensitize him or her to the pain through intense physical therapy and accompanying support. Medications are not

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“We give these kids the tools to cure themselves and to keep themselves cured.”

– David Dan Sherry, M.D. used. “The quantity and quality of the therapy is unique,” says David Dan Sherry, M.D., director of Clinical Rheumatology (above). “We give these kids the tools to cure themselves and to keep themselves cured.”

Children’s Hospital’s program, the largest and most comprehensive in the world, treats 60 to 70 patients a year and also trains other professionals in its methods.

“Usually the physical therapists stop when it hurts, but for RND patients, that’s the starting point,” Sherry says. “We have very creative therapists who help these children work through their pain and give them their lives back.” n

Alagille Syndrome

Awareness, Treatment Improve Quality of Life Alagille syndrome is a genetic disorder that causes liver problems and heart defects, problems with the kidneys and pancreas, growth delays, a skeletal abnormality called butterfly vertebrae, and differences in facial features. Patients need an expert, coordinated medical team to manage their health. They find it at the Alagille Syndrome Clinical Care Program at CHOP, headed by David Piccoli, M.D. As a result of liver disease, children with Alagille syndrome may become jaundiced, experience uncomfortable itching (pruritus) and, in approximately 15 percent of cases, require a liver transplant. Some patients are more prone to bone-breaks. Bleeding between

“Alagille syndrome is a great example of the difference medical care and awareness can make with a rare condition.”

– Ian Krantz, M.D.

the brain and the skull and aneurysms are also potential problems. Numerous specialists work together to address issues quickly and improve patients’ quality of life.

Children with Alagille syndrome should consume high-calorie diets because of their poor growth and reduced ability to absorb fat. They also require a variety of vitamin supplements. The right diet is critical to the child’s growth and cognitive development.

Approximately 30 years ago, initial studies showed that more than 30 percent of children with Alagille syndrome were mentally retarded. A study at CHOP in 1999 showed the mental retardation rate had dropped to 2 percent. Doctors believe fewer patients are experiencing mental retardation because of awareness about the importance of their diets.

“Alagille syndrome is a great example of the difference medical care and awareness can make with a rare condition,” says Ian Krantz, M.D., a geneticist at CHOP who sees many patients with Alagille syndrome.

Nicolette, 10, with her mother Alla, came from Brooklyn, N.Y., to be treated for Alagille syndrome.

“If it is managed optimally, there are very few long-term cognitive complications such as mental retardation.”

In addition to providing exemplary patient care, the CHOP team remains the worldwide leader in Alagille syndrome research. In 1997, scientists here, led by Nancy Spinner, Ph.D., identified the gene (JAGGED1) that causes the syndrome in most cases. This revolutionized counseling for families because it allows definitive diagnosis through a blood test, rather than relying solely on assessment of symptoms.

Since the initial discovery, the team has studied more than 200 patients to learn what types of gene changes lead to the disease and how this gene works. The team also identified a second gene (NOTCH2) that causes Alagille syndrome in a small percent of affected individuals. n

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Friedreich’s Ataxia

World-renowned Team Helps Patients Live Longer — and Better About one out of every 50,000 people has Friedreich’s ataxia, a neurological disorder with symptoms that include difficulty walking and talking, balance problems and muscle weakness.

Patients diagnosed with the disease as young children will typically need a wheelchair by age 18, and some will develop scoliosis, diabetes or heart disease. But with the support of places like CHOP, which has one of the world’s largest Friedreich’s ataxia programs, these patients can thrive.

“Friedreich’s ataxia is an unusual disorder in that it is almost purely motor. There are essentially no cognitive manifestations,” says neurologist David Lynch, M.D., Ph.D., the director of CHOP’s Friedreich’s Ataxia Program and the principal investigator for the Collaborative Clinical Research Network in Friedreich’s Ataxia (right). “So while people are severely affected with a motor disorder, they frequently grow up to be very successful adults.”

The CHOP program’s strong research emphasis means that patients have access to the very latest treatments: Lynch’s team is currently conducting three different clinical trials and expects to see five to seven more at CHOP and other sites in the next five years.

“That is unheard-of progress in a rare disease,” he says.

Friedreich’s ataxia research, Lynch points out, also has

The Friedreich’s Ataxia Program’s research emphasis means patients have access to the very latest treatments. significant implications for adult patients with neurological disorders like Alzheimer’s and Parkinson’s: “If we understand the therapy for Friedreich’s ataxia, we may have better treatments for these much more prevalent diseases.”

Lynch’s team is currently seeking funding for a study that could help them understand and prevent the cardiac complications that are the leading cause of death for Friedreich’s ataxia patients. One question in particular has long puzzled researchers: Why do some patients develop fatal heart problems, while others have only mild ones that never get worse?

“To successfully intervene,” says Lynch, “we have to know the answer to that question.” n

22q11.2 Deletion Syndrome

An Expert Team Provides Answers and Care The 22q11.2 deletion syndrome is a chromosomal abnormality that can cause a wide range of health and developmental issues, including heart defects, problems with the gastrointestinal tract, immune and endocrine systems, differences in the palate, slow growth, autism and learning delays.

Children with this condition may have many or only a few of the symptoms, with varying severity. Physicians with expertise in this condition can quickly recognize it in some patients and take steps to improve their quality of life, but in other children and adults it is not as straightforward.

The 22q11.2 deletion occurs in 1 of 4,000 live births at minimum, making it almost as common as Down syndrome. Despite this prevalence, many physicians are still not familiar with the diagnosis. A family may search for years for an explanation for their child’s problems and for meaningful help. Sometimes patients are in their late

12 Children’s View

teens or even adulthood before they reach the “22q and You” Center at CHOP. Recognized as an international leader for the syndrome, the center has a team drawn from more than 20 specialties.

The center provides a definitive diagnosis (using a blood test), and each patient has a series of coordinated appointments, lasting three to five days. The team addresses each health problem, as well as issues such as speech or learning delays.

Patients continue to visit for follow-up care. For those who live at a distance from Philadelphia, the center works with families and their local doctors to ensure continuation of appropriate care.

The center has evaluated more than 900 patients, from more than 40 states and 15 countries, making it the largest program of its kind in the world. In patient care, as well as research into the genetics of the 22q11.2 deletion syndrome, CHOP has helped lead the way to a better life for affected children and their families. n

< continued

About 56 percent of patients have focal HI, when the problem cells are concentrated in one location in the pancreas. Once the locations are identified through a special imaging process, those parts can be surgically removed, curing the patient.

Emily fell into this group. The scan showed one focal spot in the head of the pancreas, which is a particularly tricky area because of all of the important structures that pass through it and around

it. N. Scott Adzick, M.D., M.M.M., surgeon-in-chief and chair of the Department of Surgery, removed the focal lesion in a two-hour surgery. “If your child needs surgery, you have to come to CHOP,” Paola says. “There isn’t a surgeon in Ecuador or even in all of Latin America who could have done this. Surgery on the pancreas is so delicate, so difficult. You need to have the most experienced surgeon, and Dr. Adzick is the best.”

Emily spent a month at CHOP before returning to Ecuador, where she is a typical 2-year-old, getting into everything and joyfully playing with her sister, Katte.

“I look at my daughter now doing the normal things little girls do, and it is awesome, wonderful,” says Danny Hurtado. “We don’t have words to explain how blessed we are.” Paola adds, “I thank God and the doctors at CHOP, our angels.” n

Metabolic Disease

Three Drops That Save Lives

Ten years ago, before testing was mandatory, children with these metabolic disorders often went into life-threatening comas before parents or doctors realized anything was wrong.

All it takes is three drops of a newborn’s blood, and most families can relax: Their baby’s internal chemistry factory is working fine.

But for about 3,000 of the 4 million babies born each year in the United States, the mandated metabolic testing performed with those three drops saves their lives by identifying potentially dangerous inherited metabolic disorders.

Ten years ago, before the testing was mandatory, children with these conditions often went into life-threatening comas before parents or doctors realized anything was wrong.

On those rare occasions when the tests come back positive — two to four babies a week from Eastern Pennsylvania, Southern New Jersey and Delaware — the newborns come to CHOP, where the Biochemical Genetics-Metabolic Disease Section provides state-of-the-art diagnostic and treatment services for children with metabolic diseases.

Any of the thousands of metabolic interactions required to make energy from food can go awry, leading to a toxic buildup of amino acids or fatty acids. Levels can reach 50 or 100 times the normal concentration. Without treatment, children are prone to liver failure, renal failure, heart problems, diabetes, seizures, movement disorders, cerebral palsy, developmental delays, cognitive impairment and other problems.

Most children can be successfully treated with dietary therapy, often limiting the protein they eat. Others require medication or vitamin therapy, too. All patients need follow-up care because their metabolic disease turns a cold or fever into a potentially fatal problem.

“These children are always skating on thin ice, and it takes precious little to send them into metabolic decompensation,” says Marc Yudkoff, M.D., chief, Division of Child Development, Rehabilitation and Metabolic Disease and the William T. Grant Endowed Chair in Child Development and Rehabilitation (above left).

CHOP also houses a sophisticated laboratory that uses cutting-edge techniques of gas chromatography-mass spectrometry and nuclear magnetic resonance imaging for metabolite analysis and clinical diagnoses, usually within 24 hours of a patient’s arrival. Further genetic testing confirms which genes are involved.

Yudkoff and other physician-researchers in the division are involved in promising research that can help patients with certain metabolic diseases improve their quality of life. “We now are testing a new drug that can correct metabolism in children with toxic levels of blood ammonia,” Yudkoff says. “It is very effective, and it causes virtually no significant side effects.” n

Children’s View 13

FamilyFocus Center for Cornelia de Lange Syndrome

Realized Potential Multidisciplinary Team Embraces Patients with Cornelia de Lange Syndrome

Tyler, 1, with his mom, Heidi (above), and napping in the arms of Ian Krantz, M.D. (right).

14 Children’s View

Tyler Macy brings joy to his family. He loves when his parents read to him or toss him gently in the air. He likes music and toys that light up. He beams when he sees his big brother.

Before Tyler was born, his parents, Heidi and Noah, knew he would be different. An ultrasound during the pregnancy showed his arms and hands were not fully formed.

The Macys planned carefully for Tyler’s birth. Hours after he was born, he was transported to The Children’s Hospital of Philadelphia, where he would spend 11 weeks.

When Tyler was 1 day old, Ian Krantz, M.D., a physician who specializes in genetic conditions, and Dinah Clark, M.S., a genetic counselor, confirmed he had a rare condition called Cornelia de Lange Syndrome (CdLS). They sat bedside with the Macys, answering questions and telling them about the team at CHOP that would help care for their son.

“I was really happy they were there,” Tyler’s mom recalls. “You have a child born with special needs and a lot of people are saying, ‘I’m so sorry.’ One of the first things they said was, ‘Congratulations!’”

The Center for Cornelia de Lange Syndrome and Related Diagnoses at CHOP is internationally known — families have traveled from Egypt, Mexico, Hungary and all over the world to have Krantz and an expert team evaluate their children. CHOP has evaluated more than 1,000 children with CdLS, making our CdLS program the largest of its kind.

The center was formally named in 2009 following a fundraising effort spurred by five families that have children with Cornelia de Lange syndrome.

The goal is to endow a chair and then endow the center.

Krantz and his team have also been instrumental in identifying the underlying genetic cause of CdLS and elucidating how mutations in these genes (NIPBL,

SMC1A and SMC3) cause the clinical problems experienced by individuals with CdLS. CdLS affects numerous systems of the body, causing heart defects, differences in facial features and the upper limbs, vision and hearing problems, seizures, cleft palate, gastroesophageal reflux disease (GERD), intestinal disorders, and cognitive delays ranging from mild learning disabilities to profound mental retardation.

Many doctors are not familiar with the syndrome, which occurs in an estimated 1 of 10,000 live births. “We hear the same stories over and over again,” Krantz says. “Doctors tell families there’s nothing they can do. When the families come here, they realize there’s a lot that they can do.”

“Doctors tell families there’s nothing they can do. When the families come here, they realize there’s a lot that they can do.” – Ian Krantz, M.D. A family bringing a child to CHOP for a CdLS evaluation can expect to spend two to three days here. The child sees a geneticist, a gastroenterologist, a physical therapist and a developmental pediatrician. Appointments may also be scheduled with specialists in neurology, cardiology, ophthalmology, dermatology, orthopaedics, psychiatry and other areas.

Patients with CdLS have difficulty communicating verbally.

If they are in pain, they usually aren’t able to tell a parent or doctor where it hurts. Problems can continue for years and cause profound, permanent damage. Because doctors here have treated hundreds of children with CdLS, they know what to look for. “Our approach here at CHOP is to address all of the systems and try to avoid problems before they become problems,” Krantz says.

For instance, children with CdLS are more likely to experience intestinal malrotation, an abnormal twisting of the intestine that can cause malnutrition and severe pain and can be fatal. (A surgeon can untwist the intestine or remove a damaged part.) Undiagnosed intestinal malrotation can continue for years. Pain can lead to behavior issues, and malnutrition limits growth and cognitive ability because the brain doesn’t receive the fat and nutrients it needs to develop.

Children have been institutionalized for self injury and other behavior that may have been caused by severe pain resulting from treatable conditions if their clinicians had only known what to look for. “Sometimes kids come here after many years of suffering,” Krantz says. They would have

experienced a much better life had a medical team anticipated and prevented problems.

“Our team manages and takes care of every system,” he says. “Making sure the child is well-nourished, making sure the child can see and hear as well as possible, makes a tremendous difference to quality of life.”

And, the healthier the child, the more he will be able to communicate and learn. “Our philosophy is that kids with Cornelia de Lange syndrome do have potential,” Krantz says.

“Just like other children, they continue to learn throughout their lives. We have to optimize that ability.”

Tyler Macy is now nearly 2 years old. He visits CHOP frequently. He has had several surgeries here, including hernia repair and fundoplication (a stomach surgery for GERD).

He is fed by a stomach tube and visits a gastroenterologist approximately every three months. He has hearing aids and ear tubes, and visits an ear, nose and throat doctor every six months.

He visits an orthopaedic surgeon every six months, who watches for hip, spine and heel problems common in CdLS. When she has questions, Heidi Macy calls or e-mails Krantz or Clark, the genetic counselor.

Thanks to the efforts of his parents and his team at CHOP, Tyler is a happy child. “We are extremely fortunate to live within driving distance to be able to see the CdLS doctors and the other specialists at CHOP,” his mom says. “We know he’s always going to get the right care. It’s a great benefit to Tyler’s health and well-being.” n Children’s View 15

ViewCalendar April – August 2010 April

April 1 – 30 Smiles for Autism Make a $200 minimum contribution during the month of April to support the Center for Autism Research at CHOP and schedule a professional teeth whitening process for anytime within the year. (Dental services and all materials used are donated.

Whitening process retails for $500.)

Contact Cheryl at Plymouth Meeting Dental Associates at 610-272-1796 for more information.

April 11 Eagles Huddle Up for Autism The inaugural Huddle Up for Autism Family Fun and Awareness Day benefits the Center for Autism Research. The free event, set for Lincoln Financial Field from 11 a.m. until 2 p.m., includes autographs, field and locker room tours, arts and crafts, games, face-painting, exciting prizes and more. Plus, special appearances by Eagles players, SWOOP the mascot and cheerleaders. Register for your free tickets or get information at giftofchildhood.org/events.

2010 CMN Balloon Campaign Now – September

When you see the yellow and orange Children’s Miracle Network (CMN) balloon cutouts at your favorite store or restaurant, please donate. Your dollars will go to Children’s Hospital as the area’s recipient of CMN funds. CMN raised more than $3.2 million for patient care programs at CHOP last year. Look for the balloons from now through the end of the summer at Rite Aid, Wal-Mart, Wawa, GIANT, Sunoco, Ace Hardware and other outlets.

16 Children’s View

April 26 Big Hearts to Little Hearts Golf Outing Join the Big Hearts to Little Hearts Foundation at the Center Square Golf Club in Worcester, Pa., for the group’s second annual golf outing. You’ll be raising funds for pediatric cardiac care and research at CHOP. Last year’s event raised more than $40,000.

For more information, contact Lynne Ramsay at 732-528-0294, bigheartstolittlehearts@yahoo.com or www.bigheartstolittlehearts.org.

April 28 54th Annual Daisy Day® Luncheon The Daisy Day Luncheon is one of the largest daytime fundraising events in the region and the largest annual volunteer-driven fundraiser benefiting CHOP. This year’s event will feature couture designer Oscar de la Renta as he presents his fall 2010 collection during the fashion show sponsored by Saks Fifth Avenue. Proceeds will support the Global Health Program. For more information, contact Sonia Ocasio at 267-426-6477 or ocasio@email.chop.edu or visit www.daisydayluncheon.org.

Childhood Friends Wine Tasting & Reception April 29

The Childhood Friends of The Children’s Hospital of Philadelphia will kick off the Philadelphia Wine Festival with a tasting and reception on April 29 at R2L Restaurant. This event, hosted and supported by Philadelphia magazine and the Pennsylvania Liquor Control Board, will feature extraordinary wines, delicious food and wine education.

Proceeds benefit research, education and patient services at CHOP. For more information, contact Michelle Kerr at 267-426-6517 or kerrm@email.chop.edu.

May

May 8 Philadelphia Wine Festival The Annual Philadelphia Wine Festival, presented by Philadelphia magazine and the Pennsylvania Liquor Control Board, will be held at the Philadelphia Marriott Downtown. This fun-filled evening will feature 200 wineries from around the world and signature dishes from Philadelphia’s finest restaurants.

For more information, contact Michelle Kerr at 267-426-6517 or kerrm@email.chop.edu.

May 10 The Children’s Hospital of Philadelphia Golf Classic Join us for The Children’s Hospital of Philadelphia Golf Classic — CHOP’s premier golfing event — hosted by the Lynn Saligman League. Now in its 10th year, the tournament benefits patient care programs. In addition to playing the historic Huntingdon Valley course, the tournament includes lunch, a cocktail reception, and dinner with a silent auction and raffle.

For more information, contact Bailey White Gundrum at 267-426-5339 or events@email.chop.edu.

UpcomingEvents May 20 Peyton’s Promise Join us for the Second Annual Family Fun 5K run, 2K walk in Sea Isle City, N.J., and help raise money for babies born with congenital diaphragmatic hernia. Proceeds will benefit the Cardiac Center. For information, go to www.peytonspromise.com.

June June 5 Blue Tag Gala & Silent Auction The Blue Tag Gala & Silent Auction is hosted by the Community Advocacy Committee of the Sickle Cell Center at CHOP. The event begins with cocktails and a silent auction followed by dinner and dancing. For additional information, contact Sonia Ocasio at 267-426-6477 or ocasio@email.chop.edu or visit www.giftofchildhood.org/bluetaggala.

June 5 Bryce’s Bridge of Hope Golf Tournament Golf and support brain tumor research at the Sixth Annual Bryce’s Bridge of Hope Golf Tournament at Ron Jaworski’s Valleybrook Country Club in Blackwood, N.J. Last year’s event raised more than $40,000 for brain tumor research. For more information, contact Jeff and Judy Hansen at 856-848-6357 or 4ubdh@comcast.net.

June 26 and 27 Philadelphia Insurance Triathlon Join us for the Sixth Annual Philadelphia Insurance Triathlon. Athletes will swim, bike and run through Fairmount Park.

There are many ways to participate in the weekend’s festivities. Sign up for the Sprint Race, Olympic Race, Karr Barth Charity Challenge or kids’ races.

The Cancer Center at CHOP is the beneficiary. To learn how you can get involved, contact Michelle Kerr at 267-426-6517 or kerrm@email.chop.edu.

Event

Beneficiary

Date

Location

Smiles for Autism

Center for Autism Research

4/1 – 30

Plymouth Meeting Dental Associates Plymouth Meeting, Pa.

Eagles Huddle Up for Autism

Center for Autism Research

4/11

Lincoln Financial Field Philadelphia

Community Autism Awareness Day

Center for Autism Research

4/24

Plymouth Meeting Dental Associates Plymouth Meeting, Pa.

Big Hearts to Little Hearts Golf Outing

Cardiac Center

4/26

Center Square Golf Club Worcester, Pa.

54th Annual Daisy Day® Luncheon

Global Health Program

4/28

Park Hyatt Philadelphia at the Bellevue

Childhood Friends Wine Tasting & Reception

Patient Care, Research and Education

4/29

R2L Restaurant Philadelphia

Philadelphia Wine Festival

Patient Care, Research and Education

5/8

Philadelphia Marriott Downtown, Philadelphia

The Children’s Hospital of Philadelphia Golf Classic

Patient Care, Research and Education

5/10

Huntingdon Valley Country Club Huntingdon Valley, Pa.

Addison’s Ball

Cardiac Center

5/15

The Deck at Harbor Pointe Essington, Pa.

Peyton’s Promise Family Fun Run and Walk

Cardiac Center

5/20

JFK and Promenade Sea Isle City, N.J.

Healthy Kids Day

N/A

5/22

The Mann Center for the Performing Arts, Philadelphia

Blue Tag Gala and Silent Auction

Sickle Cell Center

6/5

Park Hyatt Philadelphia at the Bellevue

Bryce’s Bridge of Hope Golf Tournament

Brain Tumor Research

6/5

Ron Jaworski’s Valleybrook Country Club Blackwood, N.J.

Gelatin Olympics

Children’s Miracle Network

6/16

Constatter’s, Philadelphia

Hailey’s Invitational

Cystic Fibrosis

7/30

Twin Ponds Golf Course Gilbertsville, Pa.

County Corvette Association Raffle

Children’s Fund

8/1

Media, Pa.

Miracle Treat Day

Children’s Miracle Network

8/5

Participating Dairy Queens

For a current events list and details on upcoming events, visit GiftofChildhood.org.

Interested in having your own event to raise funds for CHOP? Register your event with The Children’s Hospital of Philadelphia Foundation at GiftofChildhood.com or contact Tess Boyle at communityfundraising@email.chop.edu or 267-426-6496. We can help you get started and make sure that your event is listed on our Web site. n Children’s View 17

V.I.P. Volunteers in Philanthropy

s Going ‘All In’ for Kids On Nov. 18, celebrities, professional poker players, donors and CHOP trustees tried their luck at the second annual ‘All In’ for Kids Poker Tournament at the Mandarin Oriental Hotel in New York City.

Honorary chairs and presenting sponsors Jim and Nancy Minnick (above flanking top 10 finisher Nicole Rowe), along with 120 players, played their way to raising more than $823,000 for CHOP’s Division of Neurosurgery. M.J. Serota finished first followed by Andrew Pauxtis and event co-founder Dan Shak.

s An Evening with Dick Vermeil Members of CHOP’s Legacy Advisors group were invited to An Evening with Dick Vermeil, held at the Leonard and Madlyn Abramson Pediatric Research Center at CHOP on Oct. 19. The beloved former coach of the Philadelphia Eagles (above with George Reath, emeritus CHOP trustee and chair of the Lewis Society, and his wife, Ann Reath) spoke about his own experience at CHOP as a grateful grandparent. The Legacy Advisors are a volunteer group of estate planning lawyers and financial advisors.

18 Children’s View

98.1 WOGL Radiothon The Eighth Annual 98.1 WOGL Loves Our Kids Radiothon on Sept. 11 took over the Colket Atrium of the Main Building for two days and raised $419,010. WOGL’s Ross Brittain and the Breakfast Club, and families that came to the atrium, had visits with Phillies pitcher Brad Lidge, Miss Pennsylvania, Miss New Jersey and Miss Delaware.

s Four Seasons Parkway Run/Walk On Sept. 27, a record-breaking 7,100 people gathered on Logan Square for the Four Seasons Parkway Run/ Walk. This 5K run and 2K family fun walk is presented by Four Seasons Hotel Philadelphia and sponsored

by Philadelphia Insurance Companies and Grainger. More than $580,000 was raised for CHOP’s Cancer Center.

s Women’s Committee Holiday Boutique On Dec. 3 and 4, more than 500 people kicked off the holiday season at the Merion Cricket Club by supporting the Women’s Committee’s 44th Annual Holiday Boutique. More than $270,000 was raised to support patient care, research and educational programs.

Special thanks to our Platinum Sponsors: Mr. and Mrs. John S. Middleton, Trion,TM and Mr. and Mrs. John C. Weber Jr. Above, Women’s Committee members Bridget Rahr, Kim Garno and Katharine Joyce.

s Ride Ataxia Philadelphia A crisp, sunny fall day brought more than 350 participants to the first Friedreich’s Ataxia Research Alliance (FARA) Ride Ataxia – Philadelphia, going on 50-, 25- and 10-mile rides. An additional 100 children and family members enjoyed Fall Family Fun activities including a Clydesdale-drawn hayride and bike parade. Presenting sponsors Outback Steakhouse, Carrabba’s Italian Grill and Bonefish Grill treated everyone to an amazing feast. Part of the proceeds will benefit Friedreich’s ataxia research at CHOP. Above, Kyle Bryant, Ride Ataxia founder and director, alongside Ed Ramsey, FARA board member.

s Eighth Annual Buddy Walk® and Family Fun Day More than 4,000 people came to Villanova University on Oct. 4 to walk, moon bounce, dance, sing and support CHOP’s Trisomy 21 (Down syndrome) Program at The Children’s Hospital of Philadelphia Eighth Annual Buddy Walk® and Family Fun Day. More than $225,000 was raised for patient care, research and education. Sponsors included the Auto Dealers CARing for Kids Foundation and Seneca Foods Corp.

Carousel Ball Raises $1.5 Million This year’s Carousel Ball, Children’s Hospital’s signature, biennial black-tie dinner dance, was a glamorous affair. The ballroom at the Hyatt Regency Philadelphia at Penn’s Landing sparkled with vibrant colors as more than 600 guests dined and danced the night away to the greatest hits from recording artists Peaches & Herb, Maxine Nightingale and Exposé. More than $1.5 million was raised for the Diabetes Center and the Healthy Weight Program at CHOP. This wonderful success could not have happened without the hard work of the Carousel Ball Committee, which was led by event chairs Lynne and Bill Garbose. Also lending their support were honorary chairs Marsha and Jeffrey Perelman and lead sponsor Trion.™ Topping off the evening was an incredible live auction item for a once-in-a-lifetime trip to the Academy Awards and Governors Ball, complete with a private jet trip provided by NetJets and accommodations at The London West Hollywood.

Special thanks to sponsors Comcast, NetJets, E!, Gordon Ramsay, The London West Hollywood, Evantine Design, Craig Neier Associates and Neil George Salon. n

From left, Steven M. Altschuler, M.D., CHOP president and CEO and his wife, Robin, with event co-chairs Lynne and Bill Garbose.

Andrew’s Army Golf Classic The Andrew’s Army Third Annual Fall Golf Classic was held Sept. 25 at the Redding Country Club in West Redding, Conn. The 98 golfers raised $100,000 for neuroblastoma research at CHOP.

s Walk for Hope The first-ever Walk for Hope, held Oct. 10 at Veterans Park in Hamilton, N.J., raised more than $35,000 for the Center for Pediatric Inflammatory Bowel Disease (IBD) at CHOP. More than 250 runners and walkers took to the 5K course at the event, organized by members of the Family Research Council (FRC). The FRC is a volunteer group of IBD patient families and friends that supports research at CHOP. Thanksgiving in the Country Thanksgiving in the Country, a house tour in Sergeantsville, N.J., raised funds to support the Facial Reconstruction Center at CHOP. The 36th event in fall 2009 featured house tours, a luncheon and crafting demonstrations.

s Monte Carlo Night The Philadelphia Marriott Business Council hosted its fourth annual Monte Carlo night benefiting Children’s Miracle Network at CHOP on Oct. 14, raising more than $65,000 for patient care programs at Children’s Hospital.

Daisy Day® Shopping Day The Daisy Day Shopping Day, hosted by the Daisy Day Luncheon Committee on Nov. 19 at the Green Valley Country Club, featured more than 25 vendors.

Twenty-five percent of proceeds benefited the Global Health Program at CHOP.

Kortney Rose Foundation In 2009, the Kortney Rose Foundation donated $85,000 to CHOP for brain tumor research. In addition to its annual Kortney’s Challenge and Kortney’s Coins for a CURE events, the Kortney Rose Foundation was an official participating charity team for the 2009 ING New York City Marathon.

The team of 20 runners raised more than $53,000 for the foundation. Since 2007, the Kortney Rose Foundation has donated $260,000 to CHOP. Big Hearts to Little Hearts Walk On a beautiful fall day, the Big Hearts to Little Hearts Walk for Our Babies was held at Taylor Pavilion on the Belmar, N.J., boardwalk. More than 350 people came to walk next to the ocean, enjoy the beautiful view and raise $50,000 to help detect and treat pediatric heart disease.

Children’s View 19

PediatricResearch

Whole-hearted Support Harrington Family’s Generosity Results in Promising Cardiac Study for Single Ventricle Patients

Single ventricle patients: Maya, top, and Dominic, bottom, were born with hypoplastic left heart syndrome. Both have had heart surgery at CHOP and will continue to see cardiologists here until they are young adults.

20 Children’s View

A study by doctors at Children’s Hospital’s Cardiac Center gives new hope to children with severe heart defects called single ventricle anomalies.

The study found that the erectile dysfunction drug sildenafil improved heart function in single ventricle patients, who need a series of operations to reconfigure the heart and circulatory system. (See Page 21 for explanation.) Led by Jack Rychik, M.D., and David Goldberg, M.D., the study included 28 children and young adults.

The patients took sildenafil or a placebo three times daily for six weeks, received nothing for six weeks, and then took the opposite (sildenafil or placebo) for six weeks. Echocardiograms and other tests showed heart function improved significantly with sildenafil.

One of the most pressing challenges in pediatric cardiology is finding ways to improve quality of life for single ventricle patients. Forty years ago, infants with single ventricle defects rarely survived. Because of incredible advances in cardiac care, the majority now do. But they face issues such as abnormal heart rhythm, increased risk of blood clots and difficulty exercising.

The sildenafil study is an important addition to a growing body of research focused on these patients.

The study received early support from the family of Robby Harrington. His parents, Mark and Stacy, traveled to The Children’s Hospital of Philadelphia from their home in Seattle after fetal echocardiography showed an irregularity.

The team here is one of the most experienced in the world, treating approximately 100 new patients with single ventricle defects per year.

Rychik, medical director of CHOP’s Fetal Heart Program, diagnosed a single ventricle heart defect called double inlet left ventricle. Robby was born in Philadelphia and had surgeries here when he was 2 days, 7 months and 2 ½ years old.

“This study wouldn’t have been possible without the Harrington’s support,” says Rychik. “They had the vision to believe from the very beginning, before we were able to get funding from other sources.”

After the promising results of the study, the family foundation made an additional donation for an endowed chair. The Robert & Dolores Harrington Endowed Chair in Cardiology, named for Robby’s grandparents, allows Rychik to further extend his research.

Robby is now an active, curious 5-year-old, interested in explanations of the workings of windmills, volcanoes and his heart before and after the surgeries.

His future is in the hands of physicianresearchers like Rychik, and that fills his family with hope.

“Knowing that the research we are supporting at CHOP could enhance Robby’s future and the future of others like him is very meaningful to us,” Stacy Harrington says. “Thirty years ago these kids didn’t have much of a chance. If people continue to invest in this type of research, where could we be 30 years in the future?

There is so much hope.” n

Explaining Single Ventricle Defects A normal heart is a two-sided pump with four chambers that sends blood to the lungs and body.

• The right side pumps blood to the lungs for oxygen.

The left side pumps that oxygen-rich blood to the rest of the body.

• The upper chambers (atria) receive blood into the heart.

The lower chambers (ventricles) pump it out.

Sometimes children are born with rare, severe heart defects in which one ventricle is too small or weak to pump effectively. Approximately 3,000 children are born in the United States each year with these single ventricle defects, which require a minimum of three surgeries to reconfigure the heart and circulatory system.

After the operations, the heart functions like a one-sided pump with two chambers: It receives blood from the lungs and pumps it to the body. The heart no longer has the job of pumping blood to the lungs: The surgeon has repositioned veins so blood flows directly to the lungs. This is called Fontan circulation.

Forty years ago, before these advances, single ventricle defects were fatal. Although surgery creates survival for these children, they are not cured: The heart is not returned to a normal, four-chambered heart. Now reaching their 20s and 30s, patients with Fontan circulation are experiencing multiple complications that require attention. The CHOP Cardiac Center’s new Single Ventricle Care and Research Program, led by Jack Rychik, M.D., will focus on care and research in this area. n

Hypoplastic Left Heart Syndrome (HLHS) There are several heart defects that are considered single ventricle defects. This illustration shows one of them: hypoplastic left heart syndrome. The left side of the heart is underdeveloped and the ventricle is too small to pump effectively.

Underdeveloped Aorta

Opening Between Atria

Vessel Connecting Aorta and Pulmonary Artery

Underdeveloped Left Ventricle

AO = Aorta PA = Pulmonary Artery LA = Left Atrium RA = Right Atrium LV = Left Ventricle RV = Right Ventricle

Children’s View 21

ViewPoint Chris Feudtner, M.D., Ph.D., M.P.H. Staying on Top of Emerging Ethical Issues The concept of medical ethics is hard to pin down. It involves keeping the best interests of children firmly in mind and respecting family wishes for treatment for their child, whether treatment aims for cure or palliative care. And it demands honest and transparent conversations about diagnoses, outcomes and safety events.

But medical ethics also encompasses more subtle issues.

When does cutting-edge therapy cross the line to becoming experimental research? How can an attending physician’s demeanor inhibit a resident from questioning a treatment plan or decision to perform a test? What reasons justify a nurse to prohibit the parent of a young patient from sleeping next to the child in the hospital bed? Should medical staff accept a Facebook invitation to be “friends” with a patient’s mother?

Helping Children’s Hospital sort all this out is Chris Feudtner, M.D., Ph.D., M.P.H., director, Department of Medical Ethics.

For Feudtner, the important issue is taking ethics out of the realm of the hypothetical and into the real world of patients, families and care providers making the difficult decisions. As he explains, a firefighter who stands outside a burning house and talks about theories of how to put out the fire or why it started isn’t much use to the people inside. “You need to go in there and put out the fire or — better yet — prevent it in the first place,” he says.

CHOP is at the forefront of treatments and research and likewise is at the forefront of conversations about issues staff and patients face in the world of modern medicine. “We address ethics issues as they emerge, and often even before,” Feudtner says.

The Department of Ethics was formed in 2008, building on the foundation of CHOP’s Ethics Committee, which reviews CHOP policies and programs, and the Ethics Consultation Service, a page-able team for Hospital staff to use as an on-the-spot resource.

The department is separate from but works closely with both.

Feudtner joined the Division of General Pediatrics at Children’s Hospital in 2002, helping to establish the Pediatric Advanced Care Team for children with life-threatening illnesses, and the Integrated Care Service, for children with complex chronic conditions. Working with those patient populations puts him face-to-face with ethics in a real world context every day.

As department director, he is broadening CHOP’s approach so that its ethics are more: • Inclusive: Make sure input is broad. Working groups of eight to 10 people — nurses, doctors, social workers and others — discuss common issues, such as relationships between care providers and families, or artificial nutrition and hydration like feeding tubes, and develop useful policy.

• Proactive: Plan for dilemmas, such as an overwhelming national disaster, before or as they begin to arise.

22 Children’s View

Chris Feudtner, M.D., Ph.D., M.P.H., guides CHOP’s discussions on ethics.

• Teachable: Provide training to help employees make difficult decisions and, given CHOP’s rich history of educating and training doctors, influence generations of physicians to come.

• Research-guided: Study topics such as how values affect decision-making and how communication skills affect the ability of staff and family to make decisions together.

Recent research followed how parents of children with lifethreatening conditions made decisions over time, tracking not only the decisions but also the parents’ hopes and emotions. Another study examined CHOP clinical staff ’s perceptions of ethical questions arising in the care of children with terminal conditions.

It found that people fell into five basic groups, which shared some common viewpoints but differed in certain key ethical beliefs.

Both studies point to new ways to facilitate more effective communication with parents and among staff.

Feudtner’s resources expanded when he was named the initial holder of the Steven D. Handler Endowed Chair in Medical Ethics in 2008. Handler, M.D., M.B.E., Division of Otolaryngology, and his wife, Cynthia B. Solot, M.A., C.C.C., senior speech pathologist with the Center for Childhood Communication, made a gift to establish the chair, the first ethics chair at CHOP and one of only a handful at U.S. pediatric hospitals. The couple wanted to leave a lasting influence on the institution they have served for a combined 66 years.

“He’s intelligent, compassionate and able to bring people together to work out solutions to complex problems,” Handler says of Feudtner. “He’s the perfect person to hold this position.” n

Contents

Invest

Spring 2010 3

The View from Here

4

CHOP News Roundup

In Hope.

8 – Cover Story 13 Rare Diseases, Uncommon Expertise 14

Family Focus Center for Cornelia de Lange Syndrome

16

View Calendar March – August 2010

18

Volunteers in Philanthropy

20

Pediatric Research Promising Cardiac Study

22

ViewPoint Chris Feudtner, M.D., Ph.D., M.P.H.

On the Cover: Emily Hurtado, now 2, had surgery at Children’s Hospital that cured her congenital hyperinsulinism.

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Justin,3, neurology patient

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Also Inside Promising Cardiac Study Center for Cornelia de Lange Syndrome