Girl Cured of Rare, Hard-to-Treat Immune Disorder

Bone marrow transplant from mom helps Audrey go home after spending nearly two years in the hospital

Audrey, age 5, seems like a typical, happy preschooler. She loves princesses, dress-up, and cuddling with animals. Disneyland is one of her favorite places. Her joy shines in her beautiful smile. Yet, this sweet existence wasn’t easily won.

For two years, Audrey was in hospitals fighting a rare, terrible disease that left her with many health concerns—but also with a chance at life.

Through it all, her family was by her side, and they never gave up hope.

“She lost her pivotal baby and toddler years from her illness, but she’s so smart,” says her mom, Lyndsay. “She’s every bit a 5-year-old in her brain, even though she doesn’t look like one.”

Audrey is the size of an 18-month-old, but each day she is growing bigger, stronger, and happier. “It’s been nice to see her smile after so many years of not smiling,” Lyndsay says.

Coming to Stanford Medicine Children’s Health for HLH care

Audrey was born in Walnut Creek, California, near her home. She was a healthy, full-term baby with normal genetic testing. Then, at 3 months old, she got very sick, very quickly.

“She had a common type of pneumonia that normal immune systems can fight off, so infectious disease doctors started thinking something was wrong with her immune system,” Lyndsay says.

Lyndsay and Audrey’s dad, John, brought Audrey to Lucile Packard Children’s Hospital Stanford for immune testing. Her doctors discovered a rare immune disorder called primary hemophagocytic lymphohistiocytosis (HLH). HLH can be challenging to diagnose, because symptoms can mimic other conditions. Audrey’s HLH was triggered by a hidden genetic mutation that has now been registered as an undiagnosed disease with the National Institutes of Health. In other words, Audrey had a disease that not only was very rare, but also had a genetic cause that was unknown, until now.

“Stem cell transplant, also known as bone marrow transplant, is the main treatment for HLH,” says pediatric stem cell transplant specialist Orly Klein, MD. “It replaces her broken immune system with a new one.”

Having a stem cell transplant at Stanford Children’s

Audrey’s immune system was cranked on high and never shut off. “It was too active. It created uncontrolled inflammation throughout her body, damaging her organs,” Dr. Klein says. Her doctors administered chemotherapy, steroids, and a novel antibody to slow down her immune system and ready her for stem cell transplant.

At a little over a year old, Audrey received a stem cell transplant from an anonymous donor. Because her immune system was stuck in the “on” position, despite heroic efforts, her body attacked the new stem cell graft. The rejection, and her untamed HLH, caused kidney failure, respiratory distress, pancreatitis, insulin-dependent diabetes, and a need for immune suppression, which meant another several-months stay in the hospital. It was touch and go for a long while as Audrey fought to live. To support her failing kidneys, she began receiving regular hemodialysis.

“Despite all that has happened, our experience at Stanford Children’s has been wonderful, especially with the critical care team, since we spent her darkest days with them,” Lyndsay says. “But we got close to all of her care teams, who became like family.”

Audrey’s critical illness meant she needed care from a very large team of experts from many specialties, including stem cell transplant, nephrology, kidney transplant, pulmonary medicine, gastroenterology, endocrinology, dialysis, and nutrition. Stanford Children’s is known for its remarkable collaboration between specialties, with everyone working together to treat each child as a whole.

“Audrey would seriously not be alive without everyone at Stanford,” Lyndsay says.

Undergoing a second stem cell transplant

The team helped Audrey grow stronger and get ready for a second stem cell transplant, which she received six months later. This time, the Pediatric Stem Cell Transplantation team gave Audrey her mom’s immune system in what’s called a haploidentical (half identical) transplant. Because Lyndsay’s immune cells were familiar genetically, it helped keep Audrey’s immune system from attacking them.

The team also used a special, cutting-edge chemotherapy that was just approved in the United States to ready her body to accept the new stem cells. “Having that brand-new chemotherapy with less toxicity empowered us to use drugs that were easier on Audrey’s failing kidneys and helped us succeed,” Dr. Klein says.

After being in and out of the hospital for nearly two years straight, Audrey was finally able to go home. When she grows big enough, she will receive a kidney transplant from her mom to free her from spending several hours each week on a dialysis machine.

“What she went through is kind of crazy, but her doctors and providers had such a wonderful love for Audrey. I felt like they loved her as much as we did,” Lyndsay says.

Audrey is benefiting from a clinical trial at Stanford Children’s that showed good outcomes for children who receive a stem cell transplant and a kidney transplant from the same donor. Due to the study’s success, Stanford has started a special program for kids like Audrey who need both transplants.

“It has been amazing to see her resilience and her family’s resilience. Her parents are exceptional advocates in getting her all the services she needs,” Dr. Klein says. She recalls fondly a time when Audrey dressed up as her for Halloween, wearing a curly brown wig, a rainbow dress, and sparkly shoes. “She captured the essence of me perfectly. It was hilarious and quite an honor.”

Despite such a hard road, Lyndsay and John kept things fun in the hospital and helped Audrey be a kid. She loved dressing up with wigs and costumes. One day she would be Arielle and the next day Wednesday Adams. The family’s positivity, care, and resilience inspired the entire team. “Their ability to meet challenges and maintain hope is remarkable,” says Sapana Shah, MD, Audrey’s gastroenterologist, who helped her manage an abdomen infection and a damaged pancreas after her first stem cell transplant, and is involved in her growth today.

Audrey’s diabetes is recently under much better control with a continuous insulin pump. “Lyndsay and I are noticing her blood sugar is easier to manage on the pump, which helps kids maintain a regular lifestyle and a good quality of life,” says pediatric endocrinologist Hilary Seeley, MD, who is a part of the Endocrinology and Diabetes team, which includes certified diabetes educators, dietitians, doctors, and the latest and greatest treatments and technology.

Three years with a new, working immune system

It has been over three years since Audrey’s successful stem cell transplant, and her immune system is tuned close to normal—not too high, not too low. She recently received a stem cell boost from her mom, administered like a blood transfusion, to help improve her immune cell counts.

She also receives ongoing support to help her grow. The goal now is helping her gain enough weight to qualify for kidney transplant. She’s getting there, with the help of growth hormones and exceptional nutrition.

“Audrey’s nutrition plan has been challenging due to her complex medical course, but with the collaboration of nephrology, endocrinology, and gastroenterology, we are helping her absorb calories, proteins, and minerals that are helping her grow,” says Joohee Hong, MS, RD, CSP, with Clinical Nutrition.

Living a full life while preparing for kidney transplant

Today, Audrey is thriving like never before, with her many conditions under control. “She is currently living a life we didn’t think would be possible just one year ago,” Lyndsay says. “She is so happy every day, and she is finally getting to experience many of the joys of life.”

After spending nearly two years in hospital gowns, Audrey is relishing wearing regular clothes and dressing up.

“She loves wearing princess dresses, and she’s discovering that she can look pretty. She watches herself in the mirror while she twirls and dances,” Lyndsay says.

Her doctors call her survival a miracle, not just for facing down a rare, life-threatening immune disorder, but for overcoming huge health obstacles along the way.

“HLH is very hard to treat, so the fact that Audrey is now cured, out of the hospital, and thriving in her own way is amazing,” Dr. Klein says.

Despite all they have been through, Audrey’s family wanted to give back. They created Team Audrey for Stanford Medicine Children’s Health’s Summer Scamper 5k run/walk, raising over $13,000 for children’s health.

“Audrey’s story is a hopeful reminder of why we work so hard, and the power of a family’s love,” Dr. Seeley says.

“Audrey is a different child after her second stem cell transplant. She is so engaging and is starting to talk. It’s wonderful to hear her voice. And now she’s walking both with and without her walker! The first time she walked into dialysis, we were all in tears,” says Jordi Goldstein-Fuchs, NP, with Pediatric Nephrology, who works closely with Audrey to manage her hemodialysis treatments four times a week at the Pediatric Dialysis center.

From the very beginning, Audrey’s journey has been embraced by the entire nephrology team. “We all work together—Drs. Cynthia Wong, Scott Sutherland, and the entire Pediatric Nephrology team—and we continue to work toward her goal of kidney transplant,” Goldstein-Fuchs said.

She calls Lyndsay and John “honorary dialysis champions” and the dialysis nurses “heroes,” noting that Audrey’s progress has been possible because of the unwavering teamwork and shared commitment of everyone involved in her care.

Growth is slow, but Audrey is steadily moving toward her kidney transplant and enjoying all the new things she’s learning and experiencing in the meantime.

“We’re looking to the future. She’ll be off to the races when she gets her kidney transplant,” Lyndsay says.

Recently, Audrey became a big sister to Vivienne, adding to the circle of love within her extraordinary family. Audrey also fulfilled her Make-A-Wish by going to Disneyland.

“The family shares such love, joy, and pain, but they never give up hope,” says Goldstein-Fuchs. “I think their profound love for Audrey is a lot of why she is doing so well today.”