Mary Hickey of Virginia Beach never even heard of pectus excavatum when she was growing up in Buffalo, N.Y. Much less did she know it was a “condition” or that it could be repaired. She only knew that she and her four brothers and their mother all had what they jokingly referred to as “a hole in the chest.”
It didn’t seem to affect them, she recalls, and it wasn’t severe. So, they went on with their lives.
But years later, when her own three small children began going to the pediatricians at CHKD Medical Group’s Pediatric Specialists, she discovered that the odd indentation in each of their chests had a name, developed in varying degrees of severity and could affect their heart and lungs. And she learned that the world’s surgical innovators in correcting the condition were right down the road at CHKD.
Elizabeth, the oldest, was first diagnosed at age 4. Meghan, the middle child, was diagnosed as a newborn. And Thomas, the youngest, started showing signs of the condition at age 8.
As they grew into their teens, Elizabeth’s and Thomas’ conditions worsened. For both, medical complications developed as the sternum crowded against the heart, lungs and, in Thomas’ case, even the liver. Meghan, who is now 18, has avoided those extreme symptoms.
Elizabeth began experiencing shortness of breath and “exercise induced asthma” while playing basketball at Bishop Sullivan Catholic High School. Her breathing problems were possibly caused by lung compression from her sunken chest. So in the summer of 2004, following her high school graduation, Dr. Nuss inserted the trademark curved steel bar into her chest and under her breastbone. Though the bar would stay in place for at least three years, the deformity was immediately corrected.
Fortunately, Elizabeth’s recovery was so remarkable that she made the basketball team at the University of Mary Washington in Fredericksburg as a freshman. This past year, with the bar still in place, she was selected as a sophomore to co-captain the team and helped them to a 29-2 record and a spot in the “sweet 16” of the NCAA Division III championship tournament. She also established a single-season school record of 140 blocked shots. And in May, the 6'2" forward traveled to Italy to represent the U.S. as part of an American International Sports Tour team competing for 12 days against other teams representing their countries.
“Ever since I had the Nuss Procedure, I’ve been able to breathe so much easier and to perform at my peak,” said Elizabeth, now 20. “And having the bar in place hasn’t bothered me at all.”
Also a standout athlete in soccer, basketball and football, Thomas, now 14, noticed this past season he became winded faster than his teammates at St. Gregory the Great Catholic School; he was having a harder time recovering from exercise and didn’t seem to have as much endurance. So he and Dr. Nuss decided it was time to have his pectus excavatum repaired. In April, Thomas underwent the Nuss Procedure while some 35 pediatric surgeons from across the U.S. observed during a Nuss Procedure training workshop at CHKD. (See related story.)
His recovery was smooth, and now Thomas is looking forward to adding lacrosse to his lineup of sports this fall. He has temporarily given up football as a concession to Dr. Nuss, who advises against rugged contact sports while the bar remains in place.
“I wasn’t sure I wanted surgery,” Thomas said. “But when I saw how much Elizabeth changed and how much better she was after her Nuss Procedure, I knew it was the best thing to do, and at an earlier age before my ribs became more rigid.”
The Nuss team at CHKD has meant a lot to the Hickey family.
“What a blessing to have this all here at CHKD,” Mary said. “So many people travel so far to come here for this procedure, and we have it right in our backyard. Everyone has been so wonderful to us, not only while our children were in the hospital, but also before and after. They’ve done all the assessments, made the proper diagnoses, answered every single question and been there for us every step of the way after the surgery. We couldn’t have asked for more.”
Giving back through pectus study
Now, the Hickeys are doing their part to help others.
Three generations of the family are participating in the pectus genetics research study started by CHKD in 2004.
“We’ve believed for a long time that pectus excavatum was inherited,” said Robert Kelly, MD, surgeon and partner with Dr. Nuss on the pectus surgery team. “Approximately 45 percent of the patients we’ve seen have a family history of the condition. So we’ve undertaken this scientific exploration to determine the genetic basis for the condition. We have a study group of patients and families unequalled anywhere in the world both in number and in genetic diversity.”
In March, researchers gathered at the Hickey home to meet with those in the family with a history of pectus: the Hickey children, Mary and her mother Eileen Denzel; and those without a history of pectus: the dad, John, and his parents, Paul and Pat Hickey.
Each was given a brief physical and completed a lengthy medical questionnaire. Photos were taken for research purposes, and blood samples were drawn for DNA.
Later, the researchers traveled to California and repeated the process with Mary’s four brothers and their families. An uncle in Florida and his children were included.
They’re part of a growing network of participants that will eventually number about 450 individuals from upwards of 100 or so families.
“We’re about halfway there,” said EVMS researcher Mike Stacey, PhD, one of the principal investigators on the project, along with Dr. Kelly and CHKD medical geneticist Virginia Proud. “We are including those with a family history of pectus as well as those without. We’ll compare the genetic similarities and differences in an effort to find the genetic markers that identify a connection with pectus excavatum.”
Other institutions are helping with the effort. The University of Virginia department of pediatrics will assist in genetic analysis and statistical approaches to interpreting data. The George Wright Jr. Center for Biomedical Proteomics at EVMS will help by examining proteins from the rib cartilage in pectus patients and in control groups. And The Children’s Hospital of Boston and The Hospital for Sick Children in Toronto will provide samples of the rib cartilage from their patients undergoing repair for the condition.
Exciting times for the doctors and scientists.
“This is a rare opportunity,” Dr. Kelly said. “I believe we are going to find out why people have pectus. And in so doing, we may be able to help pediatricians and families identify it earlier and make a research-based decision about the best course of correction to choose.”
And exciting times for the research participants.
“My husband, who loves genealogy anyway, printed out the entire family tree on my side of the family and gave it to the researchers,” Mary said. “They were thrilled. Pectus has been such a big part of our family, we’re all anxious to see how the research develops.”
When the study is done, the results will be presented at national and international meetings and in peer-reviewed journals.
“CHKD is prominently positioned as the leader in the field of correction of chest wall abnormalities in children,” Dr. Kelly said. “This study will further enhance that international reputation.”
Drs. Nuss and Kelly practice with CHKD Surgical Group’s Pediatric Surgery practice. Dr. Proud practices with Children’s Specialty Group PLLC at CHKD. Dr. Stacey is a researcher at the EVMS Center for Pediatric Research.
This story was featured in the third quarter 2006 issue of KidStuff, a publication of Children's Hospital of The King's Daughters.