When Amee Swearingen was 18 weeks pregnant with her second child, she went to her local medical facility in Visalia for a regular prenatal sonogram. The ultrasound showed the baby's heart was pushed off to one side. Concerned about a potential birth defect, Amee's physician sent her to a larger hospital in Fresno for a higher-resolution ultrasound.
"The second ultrasound clearly showed that my baby had a serious defect called congenital diaphragmatic hernia, which is a hole in the muscle between the chest and the abdomen," Amee says. "The hernia allowed organs from the abdomen to move up into the chest, taking up space there so the heart and lungs were crowded and not growing properly. Prenatal surgery to correct the defect was not possible, so the hospital in Fresno referred us to UCSF."
Babies with congenital diaphragmatic hernia (CDH) should be delivered in a pediatric medical facility that has experience with treating CDH and has extracorporeal membrane oxygenation (ECMO) capability. UCSF Benioff Children's Hospital San Francisco is one such facility.
ECMO is a machine that uses a pump to circulate the baby's blood through an artificial lung. In the machine, blood circulates outside the body. Oxygen is put into the blood and carbon dioxide is removed before returning the blood to the baby's body.
"We had made all the plans to deliver the baby at UCSF, inducing labor at 38 weeks into the pregnancy," Amee notes. "A couple of days before the planned induction, however, I went into labor. So I was flown to San Francisco by helicopter to deliver her there. Harper was born on a Saturday morning. As soon as she was born, they had to take Harper away from me to be intubated so medications could be delivered. Three days later, she went on ECMO treatment."
"Because the baby's hernia was diagnosed prenatally with severe features, we expected her to be quite ill and to require ECMO treatment," says Dr. Roberta Keller, a neonatologist and director of the Neonatal ECMO Program at UCSF Benioff San Francisco.
"We also knew that pulmonary hypertension was a potential complication of her congenital diaphragmatic hernia, and we noticed it at birth too," Keller adds. "The third day after Harper was placed on ECMO treatment, she had surgery to repair the hernia while on the ECMO machine. After that, she still required time on a ventilator because of the pulmonary hypertension."
Pulmonary hypertension (PH) is high blood pressure in the arteries that supply blood to the lungs. It is not the same as the blood pressure measured by a cuff on your arm.
"Blood pressure in the arteries that carry blood to the lungs is independent of 'regular' blood pressure," explains Dr. Jeffrey Fineman, a pediatric cardiac critical care specialist at UCSF Benioff San Francisco. "In a fetus, the blood pressure in the lungs is quite high. In general, the blood pressure in the lungs decreases when the baby starts breathing. One form of persistent PH in a newborn is when the blood pressure doesn't come down normally. Another form of PH is due to a congenital heart deformity. A third form is due to chronic lung disease that usually is associated with prematurity. There are a host of other types of less common PH, and then there is idiopathic pulmonary hypertension, with no known cause."
Fineman and his colleagues at UCSF have been in the forefront of research in treating pediatric pulmonary hypertension. Their research has led to new therapies for PH, including a drug called inhaled nitric oxide, which has been approved by the U.S. Food and Drug Administration. With their experience and expertise in treating pediatric pulmonary hypertension, UCSF Benioff San Francisco is the only pediatric facility in California that is accredited as a Pediatric Pulmonary Hypertension Care Center by the Pulmonary Hypertension Association. Only four other pediatric facilities in the U.S. are similarly accredited.
"Pulmonary hypertension is frequently underdiagnosed and underappreciated," Fineman notes. "It is often misdiagnosed as asthma. Unfortunately, pulmonary hypertension can cause the heart to pump too hard, which eventually leads to heart failure. It is fairly easy to screen for pulmonary hypertension using an echocardiogram and an EKG. Then we ultimately have to perform a cardiac catheterization to confirm the diagnosis."
When Harper was a little over 2 months of age, the UCSF team performed a cardiac catheterization to confirm the diagnosis of pulmonary hypertension and to evaluate options for her long-term care, including what medications could be used on an outpatient basis.
"In the late 1990s, there was really only one treatment for pulmonary hypertension in adults," says Fineman. "We now have 15 medications to treat pulmonary hypertension in adults, and the five-year survival rate has improved from 45 percent to 85 percent. We are now using many of these treatments for infants and children too, resulting in dramatically improved outcomes in the pediatric population."
"For Harper, we used the blood vessel dilator Remodulin, delivered subcutaneously with a small needle under the skin that acts like an insulin pump," Keller says. "Having the ability to deliver the medication subcutaneously meant it would be easier for the parents to manage her medication at home, and it enabled us to transition Harper off the inhaled nitric oxide and intravenous medications. The Remodulin acts on the blood vessels in the lungs to relax them and reduce pulmonary hypertension. It can have side effects on the rest of the body, particularly on the gastrointestinal system. The good news is that the body seems to get used to the medication and the GI symptoms resolve, but the medication still works in the lungs."
Harper's treatment at UCSF required a lengthy stay of more than nine months. Amee and her husband Ryan were finally able to take Harper home to Visalia on August 8. Harper's 4-year-old brother, Hudson, was really excited to have her come home.
"One positive thing about having Harper here for a while is that there was plenty of time for us to train the parents in how to deal with her treatments," says pediatric nurse practitioner Elizabeth Colglazier, who supervised the pulmonary hypertension medication administration for the nurses involved with Harper's care. "We hope that she will outgrow the need for the infusion as her lungs grow.
"Harper is adorable," Colglazier adds. "She has a lot of personality, is very curious and bright, and she loves to babble. All of her bedside nurses will miss her, but we are happy she was able to go home where she belongs. Our hope is that by the time she goes to kindergarten, no one would guess that she spent most of her first year of life in a hospital."
Harper's mom Amee was so relieved to finally take the baby home, and she expressed heartfelt gratitude for all the people on Harper's health care team.
"The nurses and doctors have been amazing, always willing to answer all my questions," Amee says. "They have taught me how to manage her care, including how to use the machines and the subcutaneous pump. Harper has been through more than any baby should have to go through, but she's amazing; she's a happy, loving child.
"I'm just afraid," Amee jokes, "she might get bored being at home without all of her wonderful hospital friends."