The pregnancy was going well for Lorraine Kelly and her husband Sean, of Collegeville, PA. Then happiness turned to shock when they received the results of Lorraine's routine five-month ultrasound.
"My obstetrician noticed a lump on the baby's neck. He sent us to a local hospital and they quickly referred us to the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia (CHOP) for further testing," says Lorraine.
The Kellys headed to Philadelphia for an evaluation, where their unborn baby girl was diagnosed with a cervical teratoma, a type of giant neck mass, on her trachea.
"I was shocked and upset," Lorraine recalls. "We had never heard of anything like it. All my friends and family members were having normal pregnancies. It was so hard to understand what went wrong."
Hope after difficult diagnosis
Scientists don't yet understand why giant neck masses develop on a fetus' airway, but the masses are not considered to be genetic. They are, however, serious conditions that can result in complications ranging from breathing or eating difficulties after birth to polyhydramnios, a buildup of amniotic fluid in the womb.
In addition to obstructing the airway, giant neck masses can compress the esophagus, preventing the fetus from normally swallowing amniotic fluid in the womb. This can result in a dangerous buildup of fluid and early labor. The giant neck mass also can compress the trachea, making it soft. A temporary tracheostomy — a surgical opening in the trachea — is sometimes necessary to allow the baby to breathe normally until the trachea hardens.
"Despite all our fears, the people at CHOP gave us hope," says Lorraine. "They were so supportive and walked us through everything that would happen, from the birth to caring for her afterward."
Lorraine was given hormone shots to help prevent an early delivery.
Born via EXIT procedure
On June 1, 1998, baby Emily was born via EXIT procedure to help stabilize her airway during the birth. EXIT, which stands for "ex utero intrapartum therapy," allows the baby to be partially delivered through a C-section while still attached to the placenta via the umbilical cord. The surgeon then works to establish an airway to permit the baby to breathe.
After the tumor on Emily's airway was removed and a tracheostomy was performed to allow her to breathe, she was taken to the Newborn/Infant Intensive Care Unit (N/IICU). She remained there for four months — through Mother's Day and Father's Day — until she was transferred to Children's Seashore House.
"The last four weeks she was at Seashore House, where they taught us how to take care of her when she went home," says her mom.
Caring for Emily at home
Home care was overwhelming at first, Lorraine recalls. Emily needed help with both breathing and eating.
"She was used to being fed by a tube in her belly and had the tracheostomy. We did have around-the-clock home nursing, but it was scary at first."
When the tumor was removed, Emily's thyroid also was removed. "She will have to be on meds her whole life," adds Lorraine.
Emily couldn't speak because of the tracheostomy, which was finally removed when she was 4 years old. But speech and occupational therapy went well for her.
"To Emily, it was all normal," explains Lorraine. "There is some paralysis of the vocal cords, but she speaks well. Her voice is just a little deeper."
Living her life
As a fourth grader, Emily does well in school and is very outgoing. She also loves the nurses at CHOP, her mom adds.
"The staff at CHOP was great," says Lorraine. "In the circumstances, I wouldn't want to be anywhere else. They are my second family, my second home for follow-ups. They took such good care of us — it's where you want to be if there is a serious medical problem."
Lorraine counsels others who may have a similar diagnosis to never give up hope: "The team at The Children's Hospital of Philadelphia is the reason my husband was able to hold Emily for the first time — on Father's Day."
An update from Emily
Now a sophomore at Pope John Paul II High School in Royersford, PA, Emily is an active teenager, busy with lacrosse and other extracurricular activities like the Student Ambassador and Community Service Club, and an after-school job at Primo Hoagies.
She still pays her yearly visits to Howard Panitch, MD, her pulmonologist, and Andrea Kelly, MD, at CHOP for follow-up care, but otherwise Emily is enjoying her high school years, making memories at football games and school dances, spending time with friends and family, and looking forward to driving when she turns 16 in June 2014!
Originally posted: June 2009
Updated March 2014