A week after Audrey was born, her parents, Earlene and Matthew, got a call from their doctor to let them know that NJ state newborn screening for severe combined immunodeficiency (SCID) was abnormal. New Jersey, where Audrey was born, is one of 42 states that currently screen for SCID, a relatively rare condition (1 in 60-70,000 births) in which a child has virtually no resistance to infections.
The next day, Audrey was seen and additional testing was performed through the Immunology Program at Children’s Hospital of Philadelphia. The testing confirmed the diagnosis of SCID.
Children with SCID are missing T cells, the white blood cells that identify and attack infecting agents. These children also have absence or abnormal function of B cells, the white blood cells that produce immune proteins called immunoglobulin to fight infections and absence or abnormal function of natural killer cells that eliminate infected and diseased cells from the body.
Without that standard New Jersey screening, it’s unlikely Audrey would have survived until her first birthday. Until recently, the condition was most commonly diagnosed when a baby was severely ill from infections leading to death in the first year of life.
The most common treatment for SCID is bone marrow transplant, to introduce normal infection-fighting cells into the child’s body. Audrey’s medical team began making plans right away for the procedure. They also started her immediately on oral antibiotics to prevent infections and IVIG therapy — intravenous immunoglobulin, an infusion derived from the plasma of multiple blood donors.
Starting the transplant process
The first step toward the bone marrow transplant was to identify a donor. In Audrey’s case, the best match turned out to be her older brother Hunter, who was 3 years old at the time. “We were really lucky that Hunter was a match,” says Earlene. “There was less than a 20 percent chance of that, and increased the likelihood of the transplant’s success. Of course, it was a hard decision to have him do this procedure. How far do you go? But he was her best option. Because of him she didn’t have to have chemotherapy before the transplant.”
On the day of the transplant, Hunter had the procedure to harvest his bone marrow from the back of his hip in the morning, and Audrey received her bone marrow transplant that afternoon. Both children came home that night. Audrey was just 4 weeks old.
That began a long period of isolation for the family. Until the transplanted cells began to grow in Audrey’s system and her body was able to fight infections, she needed to be shielded from exposure to all diseases and kept on the IVIG treatment. Hunter was kept out of school and away from other children. Matthew would come home from work, take a shower, and change clothes before interacting with his family. The family couldn’t go to crowded places. The four of them mostly stayed home, or went out by themselves without contact with other people. Extended family and friends needed to be kept at a distance.
During this time, Audrey went back to Children’s Hospital frequently for blood work to monitor the improvement in her immune function and to check that she was not developing infections or side effects following the transplant. She received the IVIG treatments every four weeks and several other medications to keep her infection free.
Getting back to normal life
At her six-month checkup, she was found to be making great progress. Hunter’s cells were now creating T cells, B cells and NK cells in Audrey’s body. That allowed the family to relax the isolation a bit.
Ten months after the transplant, Audrey’s T cells were at a normal level and she could finally come out of her “bubble.” It was then that she began to meet her full family and that Hunter could go back to school.
“The two of them are very close,” says Earlene. “When they meet people, Hunter says ‘Hi, my name is Hunter and this is my sister Audrey.’ Part of it is that they spent so many months together while we were isolated. But there is also the bond of the transplant. Hunter was put under general anesthesia for that and had a few days of painful recovery with a big bandage. He has two small scars. It’s a bond for life. Her blood is Hunter’s blood. His blood courses through her veins.”
“He’s still little, so he doesn’t understand exactly what he did. I heard him tell her, ‘You have to give me all your Halloween candy because I saved your life!’ So he gets it at some level.”
By Audrey’s first birthday, the family was living in a “new normal” state — they could invite friends and extended family to the party, and no longer had to avoid crowds in the outside world. Audrey’s immune cell counts and function are now normal and she no longer needs the IVIG infusions. Earlene has a special appreciation for the little things that most families take for granted: the first time Hunter was able to hug his sister, then kiss her; the first time Audrey was able to go outside; her first playdate; and that first birthday party when she was able to meet her family and their friends.
“Audrey is awesome,” says Earlene. “She has a great personality — very laid back. She always bounced back. She’s always been a smiling happy baby. And the people at CHOP have been tremendous through it all.”