Waynesboro, Pa. – In June 2007, 7-month-old Brianna Berkey was flown to Hershey Medical Center with severe neck distension and a bad cough.
A week later, Brianna’s mother, Linda Medina of Waynesboro, received the worst news a parent could hear. Brianna was born with a primary immunodeficiency disease that prevented her from fighting infections. She had to be quarantined in a sterile environment and her only hope was a stem cell transplant.
Thanks to an unrelated donor from Florida, the transplant was successful and Brianna is now a happy and healthy 3-year-old.
Medina said Brianna had been coughing for more than two weeks and a local doctor said it was nothing more than a cough. The morning of June 10, 2007, Medina looked in Brianna’s crib and her daughter’s neck was severely swollen.
“I rushed her to Waynesboro Hospital and she was flown to Hershey,” said Medina, 24. “I wasn’t allowed to go with her and they said they couldn’t fly too high or else her neck would pop. You don’t know how to accept that.”
Medina said she knew in her heart Brianna was sicker than doctors led on.
It took a week, but after numerous blood tests, doctors confirmed Brianna was born with severe combined immunodeficiency disease, a genetic disease that is considered the most serious of more than 150 forms of primary immunodeficiency disorders. The same disease affected David Vetter, also known as “the bubble boy,” who was born in the 1970s. The inherited disease prevents people from fighting infections and requires a stem cell transplant for survival.
Brianna also was secluded to a sterile, plastic “bubble-like” environment for several days while she was in the hospital. She was given medicine to cure an acute form of pneumonia and thrush, a form of yeast that can infect the mouth and throat in a weakened immune system.
Medina stayed by her daughter’s side, but was not able to hold her.
“I just really couldn’t believe what was going on,” Medina said. “It was just scary.”
Brianna was discharged to her home a few weeks later. She was not allowed to be in day care and if she went out in public she had to wear a mask.
“She was more susceptible to getting life-threatening diseases,” Medina said. “She wasn’t allowed to get her vaccinations because of her weakened immune system.”
Medina stopped working to prevent bringing outside germs into her home and when family or friends visited, they had to make sure they disinfected themselves before going near Brianna.
If Brianna was going to see another birthday, she needed a stem cell transplant to help the count of her red blood cells, white blood cells and platelets increase to create a healthier immune system.
A donor who matches the patient’s antigen tissue is needed for a stem cell transplant, but Brianna did not have a relative who was a match. She needed an unrelated donor and thanks to the National Cord Blood Program, one was found two months later. Medina does not know who the donor was, but said the person was from Florida.
Stem cells from unrelated donors are collected from the placenta after birth. The cells do not have to be a perfect match in order for the transplant to be effective.
Dr. Kenneth Lucas, pediatric bone marrow transplant physician at Hershey, said a stem cell transplant is currently the only cure for the disease.
“If it is done early in life it is generally curative,” he said of the transplant.
He said once the transplant is complete, the patient remains in or near the hospital for at least two or three months for frequent follow-ups to make sure the immune system is working properly.
Lucas said the process requires a lot of support from the patient’s family.
“Brianna is a wonderful little child,” he said. “Her mom works hard to keep her well.”
Medina said her daughter underwent a 10-day chemotherapy treatment to kill her bad cells before the transplant in August of 2007. They stayed in the hospital and at a nearby Ronald McDonald house for two to three months after the transplant. Once they returned to Waynesboro, Brianna had to take medicine to boost her immune system and receive check-ups and have her blood drawn from a port in her chest every few weeks. She is now considered cured and only visits the doctor once a year.
“She’s off her medication and has had her vaccinations,” Medina said. “She is in day care now and I really think she needs to be around other kids. It’s just amazing to think someone is born like that and a year and a half later be OK. I’m just grateful! She’s a miracle!”
Lilia Ritz of New York, Medina’s mother, said the process was long and difficult.
“To look at her, it looks like she hasn’t been through anything,” she said.
Brianna now enjoys Spongebob Squarepants, Dora the Explorer and playing house.
Medina said she appreciates the care the staff at Hershey provided for Brianna. She appreciates it so much she has decided to pursue a career in health care.
“I want to help people like they helped me and Brianna,” she said.
She now works for a nursing agency in Carlisle and is attending the Institute for Caregivers in Chambersburg.
Brianna is the grandddaughter of Angel Medina and Lilia Ritz and Dave and Tania Berkey. She just celebrated her third birthday Nov. 24 with a big Spongebob Squarepants birthday bash.