Meet the People Living With a Deadly 200-Year-Old Curse
"I shall be the breath of your lungs," the water nymph Ondine said to her beloved Hans, a mortal, as the two professed their affection for each other.
However, that romance, in Jean Giraudoux's celebrated 1939 play Ondine, was not to last. Ondine's uncle, the King of the Sea, unhappy with the relationship, forced his niece to submit to a Faustian arrangement, agreeing that Hans should die if he ever betrayed her.
Being a breathy French play, Ondine ultimately shows Hans deceiving his love and facing punishment — the ignominious end of literally forgetting to breathe. "All the things my body once did by itself, it does now only by special order," he laments. "A single moment of inattention, and I forget to breathe. 'He died,' they will say, 'because it was a nuisance to breathe.'"
The story of Ondine dates back centuries before Giraudoux and, believe it or not, the curse she inspired lives on today in the form of congenital central hypoventilation syndrome.
Living with "the curse"
"CCHS is a genetic mutation," 26-year-old Marissa Schain told Mic over coffee and pie in her native Brooklyn, New York. "When we fall asleep we don't get the signal in our brain to keep breathing."
The condition is rare, with roughly 1,000 cases known to exist worldwide. The mutation occurs sometime during fetal development on the gene PHOX2B, located on Chromosome 4. The disease is spontaneous, striking girls and boys at random. Thanks to modern technology, those living with the disorder today can have better outcomes than Hans, who's death provided Ondine's dramatic conclusion, but it is still far from easy.
"I was about three weeks old, my mom found me in my crib and I was blue," Schain said. "I was almost basically dead."
After that scare, Schain, like most people with CCHS, underwent a tracheotomy. The procedure outfitted her with a breathing tube that had to be hooked up every night to a clunky ventilator. "I was always known as the girl with the thing in her neck." Schain said. "You just get used to it."
While the system did keep her alive, the procedure makes CCHS patients more susceptible to potentially life-threatening infections like pneumonia. While Schain never had a major health scare, she jumped at the chance to dump the trach and the ventilator when she was 18 in favor of a set of pacemakers that stimulate breathing by sending electrical currents to her diaphragm.
"I was always known as the girl with the thing in her neck."
One of the most striking things about Schain and many others with CCHS is how utterly normal they appear in person. As she pecked around the apple and mixed berry pie, which she ultimately didn't finish, even an acute observer would have been hard-pressed to know that there was anything remotely out of place with her, let alone a life-threatening chronic condition. "I always had friends growing up," she said. "I always had activities, tennis, dance, Hebrew school. I had a very normal childhood."
Today, Schain said she doesn't think much about CCHS and has always been more focused on living her life than dwelling on any supposed curse. "We don't want to think of it as a curse," she said. "It makes it sounds so much worse than it is."
Raising a child with CCHS
More than 20 years after Marissa Schain was born, a family's introduction to CCHS still comes in much the same jolting surprise. For the parents of 4-year-old Madilyn Yang, it was at the hospital.
"As soon as she was born she fell asleep and had to be resuscitated," her mother, Sarah Yang, told Mic. For more than five months, they "never left the hospital." Like with Schain, a tracheotomy soon followed.
In a testament to the disease's rarity, Yang, a former neuroscientist at Vanderbilt University, said she had never heard of it before the diagnosis and that doctors she spoke with offered wildly different assessments.
The first doctor "assured us, beyond this, she was gong to have this great life, just treat her normally and she is going to be OK," Yang said. "Another doctor, a second doctor, was like, 'Oh no she's not going to be typical at all. She's never going to leave her house again.'"
At first it was very unclear which future would prevail for the younger Yang. At the age of 2, her heart stopped as a complication from the disease. "She essentially died," Sarah said, before eventually coming through. "Four days later she got a pacemaker."
Like Schain however, today, Yang's 4-year-old is well on her way to bearing out the first doctor's prediction. "She does ballet, she does soccer, she used to do horseback riding," Yang said. "She does whatever she wants to do."
One of the things that all CCHS families know well is cost. Both Schain and Yang spoke of the tremendous financial burden of treating the disorder. Yang said her daughter's ailment can be "financially devastating," adding that each month a veritable supply closet of equipment is delivered to her home. "Our deductibles for the month just for that alone are $1,500," she said.
And just in case you're wondering, "We have top-notch insurance," Yang said. "Even with the best possible insurance the deductibles and copays are just unbelievable."
Yang, who left her teaching position at Vanderbilt so she could tend to Madilyn full time, was upbeat and cheerfully resigned to the constant fear that has become a casual part of her daily routine. CCHS is not a disease that leaves much room for error — any mistake by a parent or nurse could be fatal.
"You worry about their health and safety on a daily basis," Yang said with a nervous laugh. "We lost two young adults in August and September this year to falling asleep off of their machines."
Like many genetic conditions, CCHS is an orphan disease. Though its effects are lifelong and can be devastating to the families of those afflicted, is affects so few people that it rarely registers in the public consciousness. It's something that that CCHS Family Network and Foundation is trying to change.
"It's a very isolating condition," Melinda Riccitelli, an executive board member of the CCHS Network and co-chair of CCHC Foundation, told Mic.
With families often separated by hundreds of miles, if not nations, given the rarity of the disorder, the network serves as a communal space to link CCHS individuals. For more than 25 years, the group has helped raise awareness, provides mutual support and educates doctors.
To gin up momentum, and raise money through the CCHS foundation, the network is planning the first ever CCHS day to be held Nov. 14. According to a press release provided to Mic, the group plans a social media campaign, a video game marathon and "dine-and-donate" events around the country to mark the day. For now, however, the objectives are modest.
"We set a goal for ourselves of $100,000," Riccitelli said. "We've been very successful this year. We will reach that goal, if not more."
One of the major things that money goes to is research. While groups like the CCHS Network have made enormous strides attacking the disease on the social front, the road to a cure is far more distant.
"They can live longer now, because they don't develop the heart failure, and delayed growth and delayed cognition," Dr. Ilene Rosen, a board member of the American Academy of Sleep Medicine and associate professor of clinical medicine at the University of Pennsylvania, told Mic. "I would think we are far away" from a cure.
Since CCHS is a congenital disorder, there was broad agreement among doctors, advocates and patients that any final resolution would have to come from gene therapy and rely on presently undiscovered medical technology.
"You're talking sci-fi stem cell ideas," Yang said. "If that happens it would be decades from now."
For advocates, lacking a magic pill, the primary clinical focus is on management. Riccitelli said the network was more interested in "treatment options that would make it livable. Something like diabetes."
Yet, for CCHS patients like Schain, that has already been achieved. "I don't even think about it," she said. "When I'm in everyday life, I just kind of go about my thing."