From Frequent Transfusions to a Cure for Beta Thalassemia

Stem cell transplant transforms life of toddler with beta thalassemia major

Wade Huynh, age 3, was born with a serious blood disorder, and he needed a stem cell transplant to thrive. Luckily, he didn’t need to look far for a donor match—just across the hall in his family home. Both of his older sisters—Jubilee, age 13, and Charlotte, age 11—were perfect matches.

“There is a 25% chance we will find a full match in a sibling,” says Tami John, MD, a pediatric hematologist-oncologist and stem cell transplant specialist at Stanford Medicine Children’s Health. “Wade had two full matches in his sisters, which was very exciting.”

Two months after Wade was born, his parents, Thien and Joy, got devastating news at his newborn screening: Wade had an abnormality in his genes. They brought him for further testing near their home in Fresno and learned that Wade had beta thalassemia, a rare genetic blood disorder that makes it hard for blood cells to carry oxygen throughout the body.

“It was a pretty big shock, and what it entailed made us fearful,” says Thien. “Prior to Wade, all of our kids were healthy.”

To help children with serious beta thalassemia stay healthy and grow, regular blood transfusions can be necessary. Often, this means going to an infusion center every three or four months, but by 6 months of age Wade needed blood transfusions every three to four weeks.

“It’s rare to have beta thalassemia so severe that a child needs blood transfusions, let alone as frequently as Wade needed them,” Dr. John says. “While blood transfusions are life sustaining, there is a secondary risk of the child developing iron overload. Too much iron in the blood can injure organs, like the liver and heart.”

Living with the constant stress and worry of having a sick child who required lab tests and blood transfusions was hard on the family. Wade wasn’t thriving—he continued to lag behind on growth charts. Thien and Joy longed for a cure. “We just wanted him to grow, gain weight, and be healthy,” Thien says. “We wanted the chance to be regular parents and for Wade to have a normal childhood.”

Choosing Lucile Packard Children’s Hospital Stanford for a stem cell transplant

Joy works in the medical field, and she started researching thalassemia treatment options. The couple decided to explore stem cell transplantation (also called bone marrow transplantation) for Wade. A stem cell transplant essentially replaces the cells that make blood cells, so Wade’s genetically mutated red blood cells that caused his beta thalassemia would be replaced with healthy red blood cells. It’s a promising option for children who don’t currently have a cure for certain conditions, including thalassemia and other blood diseases.

The Fresno family chose to receive care at Valley Children’s Hospital, a partner hospital of Lucile Packard Children’s Hospital Stanford, because it was closer to home. There, they met with Wade’s hematologists and also had a virtual meeting with Dr. John to discuss a stem cell transplant for Wade at Packard Children’s.

“Dr. John went through all of the steps with us on what to expect with the transplant before, during, and afterwards,” says Joy. “It really calmed our nerves and helped us decide it was the right path for Wade.”

The Bass Center for Childhood Cancer and Blood Diseases at Packard Children’s is nationally ranked by U.S. News & World Report and provides access to the latest research-driven care.

“Our long-standing hematology team offers many clinical trials for thalassemia, including ones that help end or limit the need for blood transfusions,” Dr. John says. “It’s rare for a center to have the volume and breadth of expertise that we have for treating thalassemia, including curative options such as stem cell transplant and gene therapy.”

Finding a donor match for Wade in his sister Jubilee

One of the first places stem cell doctors look for a donor match is among siblings because they share genes. There’s a 25% chance that siblings have the same human leukocyte antigens (HLA)—proteins found in most of the cells in the body. HLAs are used by the immune system to identify which cells belong and which do not.

“We had two very excited sisters who were full matches and ready to be donors,” Dr. John says.

Wade was extremely lucky to have two full match donors among his three siblings, Jubilee, Charlotte, and Phoenix. It meant doctors could choose the best match, including the one who was better able to understand the gravity of her choice and voice her concerns and willingness.

“Charlotte was a little apprehensive, and we didn’t want to force the girls,” Thien says. “But Jubilee was excited. She and Wade have a special bond. With the age gap, she is like his other caregiver. It’s beautiful watching them together.”

A full match means a lower chance of rejection and infection, because the recipient’s new immune system is much more likely to see the donor cells as belonging and not attack them. If Dr. John hadn’t found a full match in Wade’s siblings, she would have had to turn to a donor registry and locate an anonymous donor because his parents were not a full match (it’s very rare for parents to be full matches).

“Finding a match on the registry for Wade was certainly possible, but we could have run into problems, since racially and ethnically diverse populations are underrepresented in the registry,” Dr. John says. “Beta thalassemia is more common in people of Asian and Middle Eastern descent.”

Going through a stem cell transplant as siblings

When Wade was 2 years old, he and Jubilee came to Packard Children’s for the stem cell transplant. Wade arrived 10 days early for chemotherapy to help ready his bone marrow to accept his new stem cells.

The two had the procedure on the same day. Jubilee was put to sleep, and stem cells were collected from her hip bone. Her stem cells were then brought to Wade.

“We infuse stem cells in a similar way that we perform a standard blood transfusion. We then watched Wade for a month to make sure the cells grew,” Dr. John says. Jubilee was able to return to school a few days after donating.

The family found the whole transplant process not without stress but relatively smooth. Every day leading up to the transplant, the family was involved in daily check-ins with the stem cell transplantation care team to review Wade’s plan of care.

“The way the treatment went and the way they worked with us was nothing short of amazing,” Joy says.

The stem cell transplant care team thoroughly enjoyed caring for Wade and his family. “Wade was a fan favorite for sure. He is very Zen and funny,” Dr. John says. “He would do yoga in his room, and when the care team would come in, he would invite us to join him.”

Wade was sent home with a discharge parade of songs, bubbles, and noisemakers.

Enjoying life as an active 3-year-old boy

Nine months have passed since his stem cell transplant, and Wade, age 3, is doing great. His hemoglobin (oxygen-carrying protein) in his blood is higher than most kids’ after transplant, and his blood count is normal. His doctors at Valley Children’s will continue to monitor him in partnership with his Stanford care team, including Dr. John and Edna Klinger, NP, as he grows.

“He’s doing great—he’s truly thriving,” Klinger says. “By one year after transplant, we’ll be moving into the long-term follow-up phase, helping him continue to wean off medications and transition to a normal life. He’s done beautifully so far. I want him to do so well that I don’t have to see him much anymore.”

Today, Wade has replaced yoga with other interests, like playing with building blocks, painting, and reading books snuggled on a family member’s lap. “He’s always on the move. We got a pool recently, and he wants to swim every day, even when it’s raining,” Thien says.

Thien and Joy “wholeheartedly” recommend Packard Children’s. They are extremely grateful to see Wade enjoying life as a little boy, and they have high hopes that his thalassemia is behind him for good.

“We hope our experience might help other families on the fence to consider stem cell transplant, or get a second opinion,” Joy says. “We know it is scary, and it’s OK to be scared, but there are so many benefits in the long run.”

Dr. John agrees, believing that too many people simply live with thalassemia and the stress, constant lab tests, regular transfusions, and shortened lifespans that go with it. “We have treatments that can cure thalassemia,” Dr. John says. “Transforming Wade’s quality of life, and other kids’ his age, is really wonderful. He probably won’t even remember having thalassemia in the future.”

Learn more about stem cell transplantation for thalassemia at Stanford Children’s >