Soon after Lily’s birth in Paoli, PA, she showed signs of heart and lung distress. Her heartbeat and breathing were abnormal, so she was transferred to Children’s Hospital of Philadelphia (CHOP) and was admitted to the Cardiac Intensive Care Unit (CICU) when she was just 9 days old.
“That was a terrifying drive,” recalls Lily’s mother, Kristin. “They couldn’t stabilize her.”
Multiple heart conditions
More About Cardiomyopathy
CHOP’s cardiac team diagnosed Lily with two heart conditions: hypertrophic cardiomyopathy, a condition in which the heart muscle becomes thickened, reducing its efficiency, and an arrthythmia called atrial tachycardia. She was put on medication to control her heart rhythm, and blood samples were taken to test for genetic abnormalities.
Lily also had a temporary nasogastric (NG) tube placed for nutrition, as she didn’t have the stamina for normal feeding because of her heart conditions. Lily stayed at CHOP for a month, and Kristin learned how to care for her and manage her NG tube. To prepare for when she could take Lily home, Kristin also learned how to recognize warning signs that would indicate that Lily’s heart conditions were worsening.
When the results of Lily’s genetic tests came back, Lily received another diagnosis – she had Noonan syndrome, a genetic condition characterized by short stature, skeletal abnormalities and heart defects. The diagnosis helped the medical team tailor her care plan, and it alerted them to other issues to watch out for.
Managing Lily’s condition
After a month, Kristin was able to bring Lily home, but there were a few health issues in the months to come. One of the signs Kristin had been trained to watch for was a rapid heart rate. When Lily’s pulse went over 200 beats per minute — which happened a few times — Kristin would call an ambulance to take Lily to an emergency room.
When Lily was a year old, she had a gastrostomy tube (G tube) placed as a more permanent way to receive nutrition. In addition, an MRI was done to look for spinal cord problems associated with Noonan syndrome. The test showed that she had a tethered spinal cord, and she had surgery to correct the problem when she was 2. At this time, Lily was also diagnosed with autism spectrum disorder (ASD).
During Lily’s early childhood, Kristin brought her to CHOP every three months for appointments with her medical team. Lily also came to CHOP for feeding clinics.
Diagnosis: pulmonary hypertension
More About Pulmonary Hypertension
At an appointment when Lily was 3, an echocardiogram showed a new problem: Lily had pulmonary hypertension, a condition in which the vessels between the heart and lungs are constricted, causing extra strain on the heart. Kristin had never heard of pulmonary hypertension, and appreciated the clear and calm way the doctors and nurses with the Pulmonary Hypertension Program explained it to her.
Managing Lily’s care was particularly challenging because she has both pulmonary hypertension, which affects the right side of her heart, and hypertrophic cardiomyopathy, which affects the left side. Her team needed to adjust the dosage of each of her medications carefully so that neither side of her heart would become overloaded.
When Lily’s condition had stabilized and Kristin felt confident mixing and administering her daughter’s medications, Lily was able to go home. She received special medication through a central line to control her pulmonary hypertension.
Monitoring Lily’s progress
Lily’s doctors continued to monitor her condition and adjust the dosage of her medications carefully. The summer Lily turned 5, her oxygen levels dropped and she started having chest pains, so they gradually increased the dosage until her symptoms improved.
This past winter, Lily started receiving her medication subcutaneously, the same method used by many people with diabetes. She now wears a small pack that holds a pump and the medication. She is able to take baths, play at a water table, and go in a pool.
Now 8, Lily is a happy little girl. She has a great sense of humor, enjoys making people laugh, and loves silly books (Goodnight iPad is a favorite). She’s also a wizard on a tablet, often downloading apps all by herself.
Lily is able to go to school, where she is cared for by a nurse. She needs oxygen 24 hours a day, and although she can’t quite keep up physically with her classmates, she loves spending time with them.
At home, Lily enjoys spending time in her “special room,” which has two dark purple and two light-colored walls, glow-in-the dark stickers, a bubble machine with LED lights, and a floor mattress where she can rest. The room was provided by the Make-A-Wish Foundation.
“We love the medical team at CHOP. The whole team. I’m a single mom and they always let me know I’m not alone.”