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The Kids Fighting Back Against Rare Diseases

Millions of children in the U.S. with rare diseases struggle to find treatment.

But at Stanford Medicine Children’s Health, they’re getting the innovative care they deserve and paving the way for others.

The Kids
Fighting Back
Rare Diseases


The Kids Fighting Back Against Rare Diseases

Illustrations by Israel Vargas

Photography by Clara Mokri

H ayden Neil was playing football with his grandfather one day in 2020 when it became clear something wasn’t right. An otherwise healthy nine-year-old, Hayden complained that his chest hurt. Then he started leaning over. Finally, he passed out.

Local doctors in California were able to ascertain that Hayden’s fainting spells were symptoms of severe pulmonary hypertension (PH), a rare condition in kids. For Hayden’s father, Ethan, the news was devastating. But it also offered a kind of relief; diagnosis, after all, but it is by no means a guarantee for someone with a rare disease. “There aren’t a lot of doctors that are familiar with pulmonary hypertension,” says Ethan. “Sometimes it gets mistaken for other conditions. People don’t get treatment for it, and it ends up becoming worse.”

Hayden started treatment, but his fainting persisted. Sometimes it would happen when he was playing sports or collecting bugs outside. Sometimes it happened when he simply laughed too hard. When, on one occasion, Hayden turned blue in the face and momentarily stopped breathing, Ethan knew that he needed to get him the best possible care. That day, Hayden boarded a helicopter headed to Lucile Packard Children’s Hospital Stanford—one of the few hospital systems in the country exclusively dedicated to pediatric and obstetric care. “I knew that Stanford was going to be the best option for him,” Ethan says.

Rare diseases are more common than most people think. A disease is considered rare in the U.S. if it affects fewer than 200,000 people nationwide at a given time. According to the Genetic and Rare Diseases Information Center, nearly 1 in 10 people—or about 30 million people currently in the U.S.— have one of more than 7,000 known rare diseases. Two thirds of them are children. Yet the vast majority—some 95 percent—of these often severe and complex conditions have no specific treatment. Only 500 rare diseases have a specific diagnostic code. Many patients find that there is little or no research being done on their disease.

For these patients and their families, navigating these challenges can be psychologically, emotionally, and financially draining. According to one study, the economic cost of just 379 rare diseases reached nearly $1 trillion in the U.S. in 2019; $111 billion were out-of-pocket costs shouldered directly by patients and their families. “For many patients, it’s very frustrating. It’s demoralizing,” says Dr. Paul C. Grimm, a pediatric nephrologist and Medical Director of the Pediatric Kidney Transplant Program at Stanford Children’s. “There are no big National Institutes of Health research calls for your condition. There are no telethons for your disease. There’s no day of the year for your condition. You really feel alone.”

Medical centers with the skills and resources to treat rare diseases in children are hard to come by. In the United States, there isn’t even a single designation for the hospitals and medical groups that are properly equipped to care for children with rare diseases. When patients are able to identify those places and access them, however, the results can be life-changing.

According to Dr. Rachel Hopper, the associate director of the Pulmonary Vascular Disease program at Stanford Medicine Children’s Health and co-director of the Center for Advanced Lung (CEAL) Therapies program, treating rare diseases in children doesn’t merely require the right personnel; it also requires a culture of collaboration and innovation. “There’s a culture at Stanford Children’s of pushing the envelope,” says Dr. Hopper. “We’re always asking, ‘What can we do differently? How can we do better? How can we take better care of these patients?’”

In Hayden’s case, answering those questions required a team of heart, lung, and lung transplant specialists and subspecialists. Together, they came up with an unexpected treatment plan. Traditionally, lung transplants have been the only option to treat severe pulmonary hypertension when medications can’t treat the issue. But doctors at Stanford Children’s knew there was another option. If they could successfully place a small, custom-designed tube between Hayden’s left pulmonary artery and aorta, it would delay the need for a lung transplant and allow Hayden to have a better quality of life. The procedure, known as a reverse Potts shunt, had been shown by doctors in Paris to produce good results—but the Stanford Children’s team had never attempted it before. “Survival with lung transplant is not great—50 percent at five years or so. With the Potts physiology, the longevity and the symptoms are much better,” says Dr. Elisabeth Martin, a cardiothoracic surgeon and the co-director of CEAL. “So after going over these options, we thought, ‘We should give it a shot.’”

Once they got the green light, Dr. Martin and her team sprung into action, mobilizing a network of surgeons, pharmacists, nurses, respiratory therapists, echocardiographers, and intensive care unit doctors to care for Hayden before and after his procedure. Their collaborative effort resulted in a successful surgery, inspiring Stanford Children’s to formally house the team at its new, multi-specialty Center for Advanced Lung (CEAL) Therapies. The only center of its kind on the West Coast, CEAL is designed to help more kids like Hayden access innovative procedures like the Potts shunt—and to help Stanford Children’s doctors continue to break new ground. “This was our first time doing this particular surgery,” says Dr. Rebecca Kameny, a pediatric cardiac intensivist at Stanford Children’s who worked on Hayden’s case and the co-director of CEAL. “But it wasn’t our first time doing something new.”

When doctors at Stanford Children’s met Traejen Kingston, they also knew that unique treatments would be in order. From the ages of 9 to 21, Traejen spent hours every week on a dialysis machine, which temporarily reversed the effects of his rare disease, an autoimmune form of focal segmental glomerulosclerosis (FSGS). As a result, Traejen didn’t have the energy levels of most young people his age. Still, for years, he kept pushing to stay in school and play tennis.

By the time he arrived at Stanford Children’s in 2021, however, Traejen and his doctors knew they were running out of options. FSGS had already destroyed the kidney transplant he had received from his mother, and it was clear another transplant would have the same outcome. “I didn’t want to do dialysis for the rest of my life and pretty much live at home. I wanted to get out, see other parts of the country and the world,” he says.

T raejen needed to find an alternative, and doctors at Stanford Children’s had one in mind—a revolutionary treatment developed at the hospital called a dual immune/solid organ transplant (DISOT). DISOT, which involves a stem cell transplant followed by a kidney transplant, could give Traejen a shot at a normal life, they reasoned, but since FSGS was a rare disease, they didn’t have the usual run of tests and animal models to know for sure. Moving forward with the procedure, they knew, would inevitably require a leap of faith.

“I think that what really made it possible was the desire to make it happen and the courage to say, ‘If not us, who is going to do it? This patient is not going to survive unless we try. And if we try and it works, not only do we save his life, but we also really open the door to thousands of other patients who can have a chance,’” says Dr. Alice Bertaina, Stem Cell Transplantation and Regenerative Medicine section chief at Stanford Children’s.

Ultimately, Traejen’s case was a success, making him the first patient ever to receive DISOT for autoimmune FSGS. Today, he’s completely off dialysis. And thanks to the groundbreaking DISOT procedure, which to this day is only offered at Stanford Children’s, he also doesn’t need to take immunosuppressive medication.

The success of his treatment, meanwhile, offers hope to people all over the world. “Oftentimes, treating a very rare disease or a genetic abnormality gives you a clue that opens up understanding of an area of disease, which you can then apply to people with other conditions,” Dr. Grimm says. “So we are hoping that at some point we may be able to apply what we’re learning with these rare diseases to kids with much more common diseases.”

Rare diseases often impact more than one organ, which means that treating them requires a multi-disciplinary approach. For Cody Krieg, this was vital to treating his conditions related to Alagille syndrome—a rare genetic condition that can affect the lungs, liver, heart, and other organs—when he began treatment at Stanford Children’s at just nine weeks old.

In Virginia, where Cody and his family live, finding this kind of multi-disciplinary care for Alagille syndrome simply wasn’t possible. “The doctors around here kept telling me that we were going to lose him. They told me he was going to die in a day, but he didn’t. They told me he was going to die in a week, but he didn’t,” says Cody’s mother, Renee Krieg. “They told me he was never going to do all the normal things other kids do. But he kept showing me otherwise and I was like, ‘I’ve got to figure this out.’ And so that’s how we came out to Stanford Children’s.”

G etting Cody in the care of physicians at Stanford Children’s was critical Krieg said, because they’re equipped to handle cases requiring highly complex surgeries. Cody, for example, underwent four pulmonary artery reconstruction procedures between 2012 and 2014. “These are incredibly challenging surgeries. For some of them, they can be in the operating room for 10, 12, 14 hours. And as a result of the expertise required, these types of procedures are not done in very many places in the world,” says pediatric cardiologist and associate director of the Alagille Syndrome Program Dr. Jeffrey Feinstein. “Our cardiothoracic surgeons generally do these surgeries multiple times a week, whereas other programs may do them only once or twice a year, if at all. In fact, Dr. Frank Hanley, who is our Chief of Cardiothoracic Surgery is the one who pioneered this life saving procedure.”

During Cody’s time with Stanford Children’s multidisciplinary Alagille Syndrome Program—one of just a few such programs in North America—he crossed paths with 18 different subspecialties, says Dr. Feinstein. “That’s everything from anesthesia and cardiac surgery to things like endocrinology, rheumatology, and pain management. The plastic surgery team saw him at one point,” he says. According to pediatric hepatologist and director of the Alagille Syndrome Program Dr. Noelle Ebel, this kind of collaboration across specialties is what makes Stanford Children’s particularly well-suited to treating patients with rare diseases. “We have to be nimble and innovative so that every child with Alagille syndrome that comes to our door has the best opportunity to thrive,” she says.

Giving every child in America with a rare disease that same opportunity is possible, doctors say. But it will require more funding for research and increased efforts to improve access to diagnosis, care, and treatment. The experiences of patients like Cody, Hayden and Traejen demonstrate the power of such efforts. Traejen is cured of his FSGS and has returned to the tennis court. Hayden reports feeling well enough to play hide and seek. And after receiving multiple surgeries and multispecialty care management at Stanford Children’s, Cody is back in school again. “Kids with rare diseases are amazing,” says Cody’s mother, Renee. “They have this fight in them that’s beautiful and strong. Every child, sick or not, has a will to be a kid and a will to live. You’ve got to give these kids a chance.”

Learn more about how doctors at Stanford Children’s are treating rare diseases: