Becoming an adult is a challenging transition for anyone—but it can be especially hard for those with severe chronic diseases that, until recently, had been fatal. This is the story of one young adult undergoing some major life changes, and the doctors trying to pave a smoother path for people like her.
Rachael Goldring is getting married in October. This bubbly 24-year-old health blogger already picked out the venue, the decorations, and the music—but what she’s really excited about is her dress.
“It's a princess dress, it's strapless, and it looks as if it's floating on air when I put it on,” Goldring laughs.
Getting married is obviously a huge life event. But it may not be the biggest transition happening in Goldring’s life. Right now, she’s in limbo between pediatric and adult medical care—a time period healthier people may not think twice about. But for Goldring, finding a knowledgeable doctor could be a matter of life and death.
“I was born with congenital heart disease,” she says. “My specific congenital heart disease was pulmonary atresia with Tetralogy of Fallot.”
She was born without a pulmonary valve directing blood from her heart to her lungs. It happens to be exactly the same diagnosis that talk-show host Jimmy Kimmel’s baby boy was born with just a few weeks ago. He had to have open-heart surgery—just like Goldring.
“I had my first surgery when I was nine months and I was the youngest one in 1993 to survive that procedure,” she says. “Now, they do it from birth.”
Her condition has also meant three more open-heart surgeries, a heart valve from a cadaver, complicated secondary diseases, and a lifetime in and out of doctors’ offices.
“I just celebrated my 1-year anniversary of staying out the hospital for the first time since birth,” she says. “So, this year, knock on wood, it's been amazing.”
Forty years ago, Goldring probably wouldn’t have survived more than a few years, but today, congenital heart disease patients can live almost as long as the rest of us. Other diseases like cystic fibrosis, spina bifida and sickle cell disease have seen similar advances. It’s an incredible medical accomplishment. But it also means that when these patients become adults, they’re being handed to doctors who may not be equipped to address their complex needs. It’s a problem providers around the globe are scrambling to address.
“There is an irony to the medical miracle,” says Dr. Patrick Burke, pediatrician at Valley Children’s Hospital in Madera. “The job’s not done after the surgery or the initial treatment. Many, if not most of these conditions require ongoing medical care. Lifelong medical care.”
Burke is the director of the hospital’s new transitional care program. He’s leading the effort to ensure that chronically ill patients aging out of pediatrics find the care they need. Right now, many don’t. Research shows many conditions worsening around the age of 18. The trend is especially stark when it comes to cystic fibrosis.
“We’re seeing this spike of deaths that are happening in the early 20s,” he says, “and it’s bizarre.”
It’s happening partly because these diseases used to be fatal in childhood. They were considered the domain solely of pediatric providers. Now, more adults are living with congenital heart disease and cystic fibrosis than kids. But medical training hasn’t kept up. So young adults are less likely to find suitable doctors, and they’re more likely to lose control over their conditions.
“It goes downhill from there,” he says. “Why does it have to be this way?”
Burke isn’t the only one asking that question.
“As people talk across the nation, they’re all having the same issue: 'Oh my goodness, we’re having this increasing morbidity in this age group,'” says Dr. Megumi Okumura, a pediatrician at UC San Francisco and a co-chair of the international Healthcare Transition Research Consortium.
Okumura became interested in the pediatric-adult transition during her residency when she would see 40- and 50-year-olds in pediatric wards.
“At first I thought it was just a local problem,” she says. “I thought maybe my hospital was just peculiar.” She dug deeper into hospital-based data. “I was like, wow there’s a lot of adults in children’s hospitals, and why?” she asks. “Why isn’t our system just accommodating these people?”
Some of these patients are dealing with tremendously complex self care, like keeping track of dozens of medications, or fitting in hours of treatment each day—things that would be tough for anyone, much less someone also navigating college or their first apartment away from their parents. Okumura suggests incorporating more disease management into pediatric care could help patients stay connected with their health even if they can’t find a perfect doctor.
Really, though, she says the root cause lies in the health care system.
“They are transferring from differing systems of care, and that is artificially created in our system,” she says. “We have siloed pediatric-based care to adult-based care; we have different funding streams and programs.”
Okumura and other researchers are looking for ways to remove those artificial barriers. It’s still early days, but clinics around the world are trying out new strategies like giving non-pediatric doctors more training, or bringing in transitional specialists to connect chronically ill young adults with new providers. There are also disease-specific clinics, like the UCSF Fresno Cystic Fibrosis Center downtown, which serves patients of all ages with a team of dedicated specialists.
For many patients, though, like Rachael Goldring, staying with their pediatricians is the temporary solution until they can find the providers they need. She’s working on it—but taking care of the transition with her fiancé first.