Doctors, she was told, had found something that merited further investigation, although nurses tried to reassure her that “it most likely wasn’t anything to be concerned about.”
“It felt very scary and confusing,” recalled Blair, now 37, as she and her husband Adam, 36, waited anxiously for the results of their son’s echocardiogram. The ultrasound of the newborn’s heart revealed a small hole, a finding the couple was told was common and would probably close on its own.
For the first three months of his life, Teddy, born after a normal delivery and weighing nearly nine pounds, seemed a happy, robust baby. But within a matter of weeks, his health inexplicably deteriorated before a spectacular crash.
That early echocardiogram would provide important information to the team of pediatric specialists who worked feverishly to save his life.
“He was such a mystery for a while,” Blair recalled. “I had no clue this was even in the realm of possibility. I think it’s a reality I’m still adjusting to.”
'Crying all the time'
The signs that something wasn’t right were subtle at first.
In late December 2018, Teddy “started not to seem like himself,” Blair said. He looked unusually pale and sometimes woke up screaming.
By mid-January 2019, he began spitting up while eating and frequently seemed irritable, a departure from his previous mellowness.
“He was not a fussy baby at all, and he’d always been a really good eater. But a few minutes into his bottle he would get upset” and sometimes moan, his mother recalled. Blair, who co-owns a company that sells antique jewelry, also noticed that the skin around her son’s fingernails sometimes had a slight bluish tinge.
The pediatrician initially suspected a stomach virus. When Teddy’s condition did not improve and he developed a slight cough and stopped gaining weight, she suspected reflux.
After a new formula and an over-the-counter antacid failed to help, the doctor recommended that Teddy see a pediatric gastroenterologist.
Adam remembered feeling increasingly uneasy.
“He was crying all the time,” he said. “It seemed like more than acid reflux.”
Shortly before noon on Feb. 6, Teddy was in the pediatrician’s office being weighed in preparation for the GI visit. The nurse who was measuring the concentration of oxygen in Teddy’s blood told Blair the machine was broken and went to get another after it registered a reading in the 50s (normal is above 95 percent). As a second device produced the same catastrophic result, Teddy began to turn blue. The pediatrician rushed in and told Blair she had called 911 and that the fire department was en route to take Teddy to a hospital three blocks away.
“I’m very calm in crises,” Blair recalled, “but this was surreal. I didn’t even know what being intubated was.”
Adam, who works for a movie advertising agency, was in the middle of a pitch meeting. He raced to the hospital where his son had been born months earlier.
When he arrived, Teddy had been intubated and doctors “were testing literally everything,” Adam remembered. “They told us, ‘We don’t know what’s wrong’ or why his oxygen level was so low or his carbon dioxide level so high.” An echocardiogram showed that Teddy’s heart was massively enlarged — doctors compared the test to the one performed when he was 48 hours old. Teddy was diagnosed with severe pulmonary hypertension, high blood pressure that affects the lungs and heart as well as heart failure.
One possible cause, doctors said, was chronic aspiration, which occurs when food or liquid is inhaled into the lungs.
For the next week, doctors ran test after test as they tried to figure out whether Teddy’s problem originated in his lungs or his heart.
His enlarged and failing heart might mean that Teddy would need a heart transplant. But it was imperative that doctors determine what had caused his heart to fail in the first place and why his oxygen level had been so terrifyingly low with none of the obvious warning signs, such as flaring nostrils.
After a cardiac catherization found no structural abnormalities and Teddy began to get better, doctors thought the problem might be his lungs.
“All the signs seemed to point” upward, Adam said. One doctor even predicted that Teddy would leave the hospital healthy in a few weeks.
Heartened by his improvement, the ICU team decided to remove him from the ventilator after more than a week, hoping he would be able to breathe on his own.
“It was the first time I could hold him and he was very sleepy, kind of a ghostly vision of the baby he was,” Blair recalled.
Things did not go well. Teddy had trouble breathing and within a few hours suffered a seizure. Doctors re-intubated him.
The team had begun to explore a new line of inquiry: a genetic disorder. A pediatric geneticist suggested ordering testing called whole exome sequencing, which could rule out or confirm certain diagnoses.
But there was a catch: Doctors told the Foxes they couldn’t determine whether their insurance would cover it — or how much it would cost if it didn’t. Blair said she remembers being cautioned that their out-of-pocket charge might be tens of thousands of dollars.
Desperate to find out what was wrong, the couple decided they had no other choice and agreed to the testing, which turned out to be far less expensive and was covered by their plan.
“We’re very lucky Adam has very good insurance,” Blair said.
They also learned that doctors were working to transfer Teddy to Children’s Hospital Los Angeles (CHLA).
That was a rare bit of good news. “We had been calling everyone we knew to try to get us into CHLA but they had been totally full,” Adam said.
Teddy was medevaced to the pediatric hospital, where attention shifted to a possible new explanation: a metabolic disease. Many inborn errors of metabolism — genetic diseases that prevent the body from turning food into energy — are treatable.
“It felt like that would have been a miracle,” Blair recalled. “It gave us false hope.”
The staggering answer
A few days after Teddy was admitted to Children’s, the Foxes received a call from the geneticist at the first hospital. He told them he wanted to schedule a time to talk to them, together with Teddy’s current doctors, about the results of the exome sequencing.
The couple balked at the delay involved in rounding up the team. “We wanted answers as soon as possible and we pressed him to tell us ASAP,” Blair said. A medical student sat in on the phone call instead.
The geneticist explained that Teddy had a very rare, life-threatening disorder called congenital central hypoventilation syndrome (CCHS), formerly known as “Ondine’s curse.” Most cases of CCHS, Teddy’s included, are not inherited, but result from a random mutation of the PHOX2B gene. Teddy had the mildest mutation of that gene, which provides instructions for making a protein essential to the functioning of the autonomic nervous system, which is responsible for regulating involuntary processes such as breathing, blood pressure, digestion and heart rate. (The tiny hole in Teddy’s heart found at birth, which closed as predicted, is unrelated to the disorder.)
In people with CCHS, the brain “forgets” to tell the body to breathe as often or as deeply as required. As a consequence they require lifelong respiratory support; some need a ventilator around-the-clock, others only while sleeping.
“It seemed like the room sort of shut down,” Adam said. “Even though we finally had an answer, it was worse than anything we’d imagined.” Teddy would need surgery to implant a tracheostomy tube in his neck; the opening would permit connection with a ventilator.
In a fortuitous turn of events, the Foxes were told that pediatric pulmonologist Thomas Keens, an internationally prominent expert in CCHS, is a longtime member of the Children’s staff.
The shellshocked couple met with Keens and his colleagues the following day.
“Teddy probably wasn’t breathing well from the beginning,” said Keens, who has cared for CCHS patients since the 1970s.
Because Teddy’s mutation is mild, the problem was not discovered when he was a newborn. Some cases are found even later. One of Keens’s patients was diagnosed at age 5, after he failed to wake up as expected following anesthesia.
Meeting with families of the newly diagnosed is difficult, Keens said. “But if we do our job right these kids can have a pretty normal life,” he said. “We have patients who go to school, college, get married.” Parents, he said, are told that their child will require around-the-clock care that they will be trained to provide before discharge. Keens also tells them that in-home nursing care is strongly recommended.
One of the most critical unmet needs facing families is the shortage of home health nurses, which has worsened during the pandemic. Although Teddy qualifies for 24 hour care, Blair said, “we’ve never gotten that — ever.”
Their new normal
Six weeks after undergoing a tracheostomy Teddy went home. He has not been rehospitalized and is doing well, his parents said.
Nearly 3, he is off the ventilator except when he’s asleep. A night nurse covers 12-hour shifts during the week. On weekends his parents, who have been working from home, take turns staying up all night. Teddy must be monitored while sleeping because young children with CCHS typically don’t show signs of respiratory distress and may stop breathing without warning.
“We’ve been on crazy, crazy lockdown even before the pandemic and have been very vigilant about keeping him healthy,” Blair said. Both sets of grandparents, she added, have been exceptionally helpful.
Blair said she is still adjusting to the implications of the diagnosis. Early on, one doctor warned her that she needed to “keep it together” so Teddy did not pick up on her distress.
“The trauma of being unable to know or help what’s going on has had lasting consequences,” she said. “And not showing emotion is really hard.”
Teddy, who speaks in full sentences in sign language and is working with a speech therapist to improve his vocalization, is “much more aware now,” she said. “He knows he’s different. It’s so hard as a parent not to be able to make it better. I go back and forth from forgetting that he even has this rare disease to totally being consumed by it.”