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 fifth 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 for further testing. The baby was diagnosed with a cervical teratoma, a form of 'giant neck mass' on her trachea, or breathing tube.
"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."
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 build up 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 build-up of the 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. And on June 1, 1998, baby Emily was born via Cesarean section. The EXIT procedure was used 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, the baby was taken to the Newborn Infant Intensive Care Unit. 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.
Home care for the baby 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 finally was removed when she was age 4. But speech and occupational therapy went well for her. "To Emily, it was all normal. There is some paralysis of the vocal cords, but she speaks well. Her voice is just a little deeper." The fourth grader 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 were you want to be if there is a serious medical problem."
Lorriane 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."