Christine was in her late thirties when she and her husband Jon Jay became pregnant with their first child, Eva. Given Christine’s age, the military couple had routine visits with a genetic specialist, who — at 12 weeks gestation — was the first to flag issues with Eva’s developing heart. Concerned about the possibility of a miscarriage, the specialist told the couple to prepare for the worst.
“Eva decided she wasn’t going anywhere,” says Christine.
With Jon Jay stationed in Okinawa, Japan, Christine was flown to Hawaii, where a pediatric cardiologist in the local army medical system would provide further testing. An echocardiogram soon confirmed that Eva had hypoplastic left heart syndrome (HLHS), a congenital heart disease in which the left side of the heart is underdeveloped.
“Before we found out about HLHS,” says Christine, “we had no idea what it is was. It was a lot to take in very quickly.”
Jon Jay flew in from Okinawa so the couple could discuss the impact HLHS would have on their family and on Eva’s life. “Terminating the pregnancy wasn’t an option for us,” says Christine.
When Christine was six months pregnant, her genetic specialist spotted fluid in Eva’s lungs and told the couple they would need to travel to the mainland as soon as possible. If Christine was to deliver early, the family wouldn’t have access to the advanced pediatric care Eva would need.
Armed with only two suitcases, Christine and Jon Jay were medivacked to Washington, where Eva would receive specialized care immediately after birth, and Jon Jay and Christine would be near a supportive network of family.
‘We didn’t want anyone but Dr. Chen’
It was at the Washington hospital that Christine and Jon Jay first met Jonathan Chen, MD, who at that time served as the hospital’s Chief of Congenital Cardiac Surgery and Co-director of the Cardiac Center.
“We had a zillion scary questions,” says Christine. “Dr. Chen sat down with us and answered them all. His bedside manner is incredible.”
“We let him know then that we would like him to be our surgeon,” says Jon Jay. “And for the years and surgeries that would come, we didn’t want anyone but Dr. Chen to operate.”
More About Staged Reconstruction Heart Surgery
Eva’s first surgery, the Norwood, occurred just four days after her birth. The Norwood is the first procedure of staged reconstruction heart surgery, where surgeons perform a series of open-heart procedures over several years.
Intubated for five weeks after the Norwood, Eva struggled with extreme oral aversion and fluid buildup. During this time, she was also diagnosed with Koolen de Vries syndrome, a genetic disorder that can cause developmental delays and a host of other challenges, including intellectual disabilities and congenital malformations. Though Eva and her family were discharged 71 days after checking into the Washington hospital, Eva’s medical journey had only just begun.
A break at last
Five months later, with their first hospital stay still fresh in their minds, the family returned for Eva’s second open-heart surgery, the Glenn. Eva’s presurgical testing, however, threw a wrench in the plan. The baby’s blood pressure was so high, the surgical team was concerned that the five month old wouldn’t survive the operation. “Words like ‘transplant’ started being tossed around,” says Jon Jay.
Dr. Chen, however, was confident the procedure could be performed. Bolstered by the success of Eva’s Norwood, Christine and Jon Jay trusted Dr. Chen’s decision. And that trust paid off. “He met with us right after surgery,” says Jon Jay. “He said, ‘You needed a break, and you got one. The surgery couldn’t have gone better.’”
Though the couple had prepared for another several months in the hospital, they were able to take Eva home within seven days.
“To go from talking about a heart transplant to a week later sitting on the couch with your daughter is pretty amazing,” says Jon Jay.
One ‘kool kid’
Eva lived a highly medical life for the next two years. At six months old, she underwent another operation — this time to replace the nasogastric tube she’d had since birth with a more permanent gastrostomy tube to manage her nutrition long term. She also received extensive physical and occupational therapy.
Children with Koolen de Vries syndrome — affectionately nicknamed “kool kids” — have speech and motor skill delays and often do not reach independence. Eva, however, seemed to defy these limitations, babbling and walking with assistance early on.
“She started proving people wrong from the beginning,” says Jon Jay.
By 2 1/2, Eva was walking independently. Though speech remained a struggle, the toddler learned sign language quickly, picking up new signs often faster than her parents. Newly settled in Hawaii, Jon Jay and Christine enrolled Eva in preschool, where, with the support of an extremely close-knit community, she began to thrive.
“It’s mind-blowing to watch her go to school every day and learn and talk and do all of these things that we were told she’d never do,” says Christine.
An unexpected hurdle
Epilepsy is another condition often present in children with Koolen de Vries — so when Eva, at 3 years old, suffered from a severe seizure in the middle of the night, her parents rushed her to the local emergency room, fearing the worst. Eva’s scans, however, revealed something far more terrifying. Eva had a subdural bleed and needed an emergency craniotomy.
“It was so sudden,” recalls Christine. “We had no time to research; we didn’t know who the doctor was. It was very scary.”
Although Eva was discharged 10 days after surgery, she soon began leaking cerebral spinal fluid (CSF) through her bandages. Crediting the leak to high pressure as a result of the Glenn, the neurosurgeon performed a second craniotomy. The leak persisted, and plans were made for a shunt system to drain excess fluid from Eva’s brain.
On the day of Eva’s scheduled surgery, her doctor discovered that the CSF leak had significantly decreased. A follow-up visit confirmed that the leak had resolved on its own and surgery would not be necessary.
“The craniotomy experience gave us a reality check,” says Jon Jay, noting that Eva had a Make-a-Wish trip the family had been saving for after her final heart surgery. Determined to provide Eva with positive experiences, the family celebrated her medical triumph in Disney World.
As Eva neared her 4th birthday, her parents knew it was time to plan for the third and final stage of her reconstructive surgery, the Fontan.
Eva’s surgeon, however, no longer worked in Washington. Having relocated across the country to Children’s Hospital of Philadelphia (CHOP), Dr. Chen was now Co-director of the Cardiac Center and Chief of the Division of Cardiothoracic Surgery. This did not deter Christine and Jon Jay, who set to work arranging a referral to CHOP.
“There was only one person who was going to operate on our daughter,” says Jon Jay. “Dr. Chen.”
In the midst of the pandemic, Christine and Jon Jay worked with their local cardiac team to arrange travel from Hawaii to Philadelphia, arriving for the Fontan just one month after Eva’s 4th birthday.
“I was really worried about traveling during the pandemic,” says Christine, noting that the family quarantined for six weeks prior to traveling to CHOP. “I was more anxious about that than I was her surgery.”
The safety measures in place at CHOP offered some comfort.
“It’s a very safe environment. I never felt that I needed to worry about Eva or people not washing their hands or wearing masks. In the area where CHOP is, everyone has on masks. It’s just second nature.”
The road to recovery
Though the Fontan procedure is typically associated with a short recovery, Eva experienced several complications after surgery — including excess drainage and clotting that required an unexpected heart catheterization. The family settled in for another long road to recovery. Nearly seven weeks, three procedures and two catheterizations later, they were finally able to go home.
“I say all the time that Dr. Chen is the reason I get Eva,” Christine says. “He’s the reason our family has had these four amazing years together. Eva is very complicated. She has a rare genetic disorder. Because of our medical team, I’m able to be the best mom I can be for her.”
As for Eva, she’s happily back at her favorite place: school. Although technically still recovering, Eva is “go-go-go,” dancing, singing and playing outside — seemingly unphased by the medical trauma she’s endured.
“Her body looks like a warzone,” says Christine. “But all of those scars make her strong. The differences she has make her beautiful.”