Yuki’s Story: Finding a Way to Fight a Rare Disease
It started when she was 14. Yuki Chen noticed a small red rash on her leg while she was showering. She figured it was nothing and didn’t even mention it to her parents until it seemed to be growing. But there was no itch or pain, so she thought maybe she was reacting to new clothing or detergent. No big deal.
A few days later, Yuki’s ankles were so swollen she could not remove her shoes without pain. She went to an emergency department near her family’s home in Staten Island. Diagnosis: Henoch-Schönlein Purpura (HSP), also known as immunoglobulin A (IgA) vasculitis. The condition involves inflammation of small blood vessels in the skin, joints, intestines, and kidneys that causes them to bleed and can look like a rash.
At the time, it seemed a few weeks off school and medication to recover would be the end of it. “It felt like it was just going to go away,” Yuki remembers.
But as the winter of 2018 continued, Yuki’s legs swelled and hurt during the 10-minute walk home from school. She was so tired she’d fall into bed and nap. She slowly let go of things like playing on the golf team, taking dance classes, or just hanging out with friends. The fevers started next, always at night, always unexplained.
In the beginning, Yuki and her parents thought her illness might be stress, but the situation was turning scary. The fatigue and pain were relentless, and there were moments she could hardly catch her breath.
Navigating a complex case
While her parents were also juggling work and her siblings, they took Yuki to a variety of New York doctors.
At Columbia, they met pediatric rheumatologist Lisa Imundo, MD, to address the fevers she was experiencing. That led to meetings with seven other specialists for tests and consultations.
In the three years following the HSP diagnosis, Yuki received a long list of additional diagnoses from various institutions: immunoglobulin A nephropathy (a kidney disease), myocarditis (inflammation of the heart), uveitis (eye inflammation), immune thrombocytopenia (a blood disorder leading to low platelet counts), declining cardiac function, orthodeoxia (a drop in blood oxygen when standing or sitting upright), progressive coronary artery dilatation (enlarged heart arteries), sinus of Valsalva aneurysms (abnormal dilatation of the artery closest to the heart), and focal nodular hyperplasia (non-cancerous liver tumor). She became dependent on oxygen and would have to carry an oxygen tank, making her health issues more visible.
In 2019, Yuki met Columbia pediatric cardiologist Usha Krishnan, MD, who also diagnosed her with pulmonary hypertension (a high blood pressure condition that affects the heart and lungs), as well as myocarditis. She was admitted to NewYork-Presbyterian Morgan Stanley Children’s Hospital for a week, which was her first overnight stay. Being on a cardiac floor, surrounded by patients recovering from heart surgery, hit her hard.
A long road ahead
At that point, Yuki didn’t yet fully understand what chronic illness was: the stretches of time without feeling like yourself. As she would come to realize, “There are a lot of ups and downs. It’s not linear, and there are a lot of setbacks.”
Yuki’s complex case led to a cycle of uncertainty: Medication that worked for a bit then did not, new symptoms, new tests, a diagnosis or a guess, a new medication, repeat. She was on and off prednisolone and immunosuppressants. She had no appetite. Her mom created a strict diet of easy-to-digest foods (like boiled vegetables) and eliminated sweets. Her body was sensitive to everything. Her fingernails were turning purple. Her lips were swollen.
Because chronic illness has psychological effects, Yuki’s doctors paid close attention to their young patient’s emotional responses. Remarkably, recalled Dr. Krishnan, Yuki’s good spirit always prevailed: A hope within one of the most complicated cases she’d ever seen.
Then COVID-19 hit, making “normal” even more of a fantasy.
In addition to dealing with everything her body was throwing at her, Yuki was trying to keep up with high school work, college applications, SATs, and the weight of wanting to do well enough to get into a great school, maybe even Harvard.
Then, in 2021, another development: When Yuki’s mother asked about her daughter’s blue fingertips during a regular appointment, Dr. Krishnan readmitted her to the hospital. A bubble echocardiogram test found that not enough oxygen was getting to Yuki’s heart or lungs. Dr. Krishnan said the situation was dire.
Yuki wasn’t thinking, “I’m dying,” but life was going to be a lot harder, making it impossible to focus on anything but her health.
In the summer of 2021, before the start of her senior year, Yuki’s parents decided she would pause going to high school, a decision no one took lightly.
Yuki was devastated. “It felt like one more thing piling on,” she says. Looking back, however, she knows it was the right call. “I don’t know where I’d be if I didn’t take that break.”
A rare Epstein-Barr infection
When Yuki was referred to Columbia pediatric hematologist-oncologist Prakash Satwani, MD, he remembers how “morbidly” ill she looked. “She was fatigued, on oxygen, emaciated, sleep-deprived, and bruised because her platelet count was low. Her lips were purple, her fingers were plump.”
Years of fever had taken a huge toll on her body: She weighed half of her expected weight.
In 2022, based on Yuki’s history and specifically the persistent fevers, Dr. Satwani diagnosed Yuki with T-cell chronic active Epstein-Barr virus (EBV) infection, a rare disease in which EBV—which infects about 95% of adults—is in T cells, the white blood cells that help our bodies fight infections.
Yuki’s chronic active EBV infection had led to hepatopulmonary syndrome, a serious liver disease that affects the lungs and results in low oxygen levels in the blood, making it hard to breathe.
This manifestation of EBV has only three other reported cases. They all resulted in multiorgan failure leading to death. Dr. Satwani and the Columbia team were not going to let Yuki be the fourth.
Thinking outside the box
The severity of Yuki’s situation prompted Dr. Satwani to suggest a ground-breaking approach: bone marrow transplant (called hematopoietic stem cell transplantation), a life-saving treatment for serious diseases, which had never been used to treat hepatopulmonary syndrome with chronic active EBV. This approach meant a whole new world of medical possibilities and jargon. Dr. Satwani mapped it out, literally creating a sketch to break everything down.
But even with the best explanation, the idea felt daunting—especially considering Yuki may also need a liver transplant to treat the hepatopulmonary syndrome. Her parents were hesitant, and the family explored other options.
Meanwhile, Yuki could feel herself getting weaker. “I realized I was only going to continue to deteriorate,” she says. “My body was already fragile, and I couldn’t keep waiting for something to magically work.”
She’d finally graduated high school in 2023, nearly a year after her peers. A hematopoietic stem cell transplant felt like a shot at getting back to some kind of normal.
But first, she needed to be strong enough to survive the procedure, which puts extreme stress on the body. Her immune system could reject stem cells transplanted from another person, so Yuki’s parents and siblings were tested to determine who would be the best genetic match to donate the cells; Her dad was chosen.
In order to prepare for the stem cell transplant, Yuki would first need chemotherapy (used for both cancerous and non-cancerous conditions). This intense treatment would kill the existing stem and dysfunctional immune cells in her own bone marrow and pause production of new cells; The transplant procedure would then replace the destroyed cells with healthy cells from her dad.
As Yuki summarizes the technology: “They pump you full of new cells after chemo gets rid of old ones.”
In September 2023—as her high school friends started college and her own dream of higher education was on hold—Yuki received two chemotherapy cycles over 12 weeks, tailored to accommodate her frail condition. She got sicker and started to lose her hair.
“I was super scared: scared for chemo, scared for seeing how my body would react to it after, and then I had to be in the hospital for a month and a half,” she recalls.
But with the support of her care team, Yuki proved to be as physically strong as she was emotionally stable. At the beginning of September, her body was ready for the transplant procedure.
“The procedure itself is minor,” says Dr. Satwani. “What comes after is typically not easy.”
Transplant patients must be constantly monitored to make sure their body is receptive to the donated cells.
Thankfully, Yuki did not have any major transplant-related complications. About two weeks after the infusion, her blood counts began to recover.
Seven months after transplant, the EBV attempted to re-emerge—but was successfully eliminated by infusing cells manufactured at Columbia using Yuki’s dad’s blood.
Signs of progress
One afternoon during her hospital stay, Yuki was inspired by Taylor Swift’s Eras tour and social media to make friendship bracelets for her nurses. And she did it standing up.
“I was like, oh, that’s weird. I’m standing up for this amount of time and not feeling as tired as I used to be,” she says after years of sitting.
She started paying attention to small wins and tracked her white blood cell count every morning she was tested, celebrating the tiniest improvements, anxious to leave the hospital and get back to normal life that was suddenly—after years—within reach.
Then she got the good news that she would not need a liver transplant. Back home, she could see the changes daily. She was getting back to herself, month by month.
In the fall of 2024, Yuki finally said goodbye to the oxygen she’d carried for years. And she said hello to a formerly restricted sweet: ice cream.
She started working as a mentor to other patients, guiding them and offering encouragement through the emotional challenges of chronic illness and transplant recovery.
“Illness will probably not be linear. I want anyone who’s going through something similar, or even completely different, to know they are not alone,” she says.
Dr. Satwani encouraged Yuki to go out and do everything, including apply to college. He even wrote her a recommendation letter to Columbia University. Neither he nor any of Yuki’s vast medical team was surprised when she was accepted.
“It takes a village and courage,” Dr. Satwani says. “Yuki has seen her death 1,000 times. She will be okay in college.”
While navigating her incredible five-year health journey, Yuki also started Helping Hands of New York City, a nonprofit that raises money for local communities and hospitals where supplies were limited for patients. One campaign provided gift cards for nurses in India, a way to thank Dr. Satwani, who treats children there.
Yuki’s organization is on pause now as she gets used to dorm life and embraces the normal college routines of her freshman year on the pre-med track.
But she will always have time to show others that, while the journey is tough, survival and strength are possible. She is living proof.
Lisa Imundo, MD, is a pediatric rheumatologist and the founder and director of Columbia’s Center for Adolescent Rheumatology, which provides care for children and adolescents with chronic rheumatic disease.
Usha S. Krishnan, MD, is a pediatric cardiologist, and medical director of Columbia’s Pediatric Pulmonary Hypertension Comprehensive Care Center.
Prakash Satwani, MD, is a pediatric hematologist and oncologist who specializes in the use of bone marrow transplantation to treat leukemia, lymphoma, or hemophagocytic lymphohistiocytosis.
Yuki's care required a team approach that depended on the collaboration of many providers, including Monica Bhatia, Alexis Boneparth, Amanda Cantor, Andrei Constantinescu, Diane George, Fangming Lin, Joshua Milner, Pawel Muranski, Cindy Neunert, and Ellen Shaw. And many courageous nurses and nurse practitioners at Mogan Stanly Children’s Hospital.