Child Health, News Seth Stratton | 2 years ago

Access to Experimental Drug Saves Baby’s Life

To see toddler Kirstin Garcia now, rolling around and playing at home in Pageland, S.C., you would never known how sick she was just a few months ago.

When she was 6 months old, Kirstin was diagnosed with a rare – and often fatal – genetic disease called hemophagocytosis lymphohistiocytosis (HLH). The disease triggers the immune system to attack the body, causing fevers and liver failure. Only a bone marrow transplant could save her life. Kirstin was scheduled to receive a transplant from her father. Kirstin had a number of infections prior to the transplant. Afterwards, she developed a life-threatening adenovirus infection, which causes severe cold-like symptoms including sore throat, bronchitis, pneumonia, diarrhea and conjunctivitis (pink eye). The infection, along with her HLH, then caused liver failure. To that point, there had been no precedent about how to treat her adenovirus after the transplant. Doctors told the Garcia family about an experimental drug in development by a North Carolina company. Though previous patients had had difficulty accessing this life-saving drug – which was still in trials – Kirstin’s doctor, Michael J. Eckrich, MD, MPH, a pediatric blood and marrow transplantation physician, recognized the medicine's potential and decided to secure its use to help her. Recognizing the time-sensitive nature of Kirstin's situation, within 36 hours the blood marrow transplant team was able to coordinate with Levine Cancer Institute's Research Trials Division and the Pediatric Intensive Care Unit to enroll Kirstin in a trial and receive the life-saving drug. The team was also able to enroll her in a trial for a second non-FDA-approved drug to treat her liver disease. Both treatments were successful. “Now, eight months after her transplant, she is the happiest little kid,” said Kirstin’s mother, Tasma Garcia. “The medical team that helped her – they’re my Charlotte family now. They were so supportive. I see everything getting better.” Her transformation is due in equal measure to the, the love and support of those around her, a team of caring professionals at Levine Children’s Hospital and Levine Cancer Institute and an experimental medication that she very nearly wasn’t able to get. After a hospital stay of three-and-a-half months, Kirstin went home. “She was a whole different child after receiving the medications and the transplant,” said Dr. Eckrich. “I’m delighted we were able to make a coordinated effort across the System to get her access to this life-saving drug and make a difference for her outcome.”