For the first three months of his life, Teddy Joe Fox, born Sept. 18, 2018, after a normal delivery and weighing nearly 9 pounds, seemed a happy, robust baby. But within a matter of weeks, his health inexplicably deteriorated.
In late December 2018, Teddy “started not to seem like himself,” said his mother, Blair Fox. 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.
Blair, now 37, 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.
“He was crying all the time,” said his father, Adam Fox. “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%). As a second device produced the same result, Teddy began to turn blue. The pediatrician told Blair that she had called 911 and that the fire department was en route to take Teddy to a hospital three blocks away.
When Adam arrived at the hospital, Teddy had been intubated and doctors “were testing literally everything,” he 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. 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.
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.
Heartened by his improvement, the ICU team decided to remove him from the ventilator after more than a week.
“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. 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.
Teddy was med-evaced to Children’s Hospital Los Angeles (CHLA), where attention shifted to a possible new explanation: a metabolic disease.
A few days after Teddy was admitted to Children’s, the Foxes received a call from the geneticist at the first hospital.
The geneticist told the Foxes 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.
He 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.
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.
About 1,200 cases have been reported worldwide since its discovery in 1965, although the disorder is believed to be underdiagnosed. Experts speculate that some deaths attributed to sudden infant death syndrome (SIDS) may have been the result of unrecognized CCHS.
“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 fortunate 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 shell-shocked 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’ patients was diagnosed at age 5, after he failed to wake up as expected following anesthesia.
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.
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.”