Jan. 29, 2021 – Mason was born a happy, healthy baby at 8 lbs. in 2017 to parents Angela and Adrian and big brother Ethan. He developed steadily until about nine months old, when he started to fall off of the growth curve for his age. However, it wasn’t until he uncommonly developed appendicitis as a 15-month-old that his mom, also a pediatric nurse practitioner, became very concerned. Appendicitis was just the beginning of a serious and long journey to recovery, assisted by expert medical care and a groundbreaking process for transfusing matched blood.
“During his appendectomy, the surgeons noted abnormal scar tissue surrounding his appendix,” said Angela. “Then, in the three months that followed, my mom intuition kept going off. He developed intermittent high fevers and then a swollen cervical lymph node. We took him to the ED (emergency department) when the fever persisted.”
The hospital admitted Mason. During his stay, doctors intubated him because his throat kept swelling, and it impaired his breathing. His medical team ran a slew of tests, including a CAT scan and review of fluid from his lymph node. The fluid showed an overgrowth of a rare bacteria called Nocardia. People who are immunocompromised or have chronic granulomatous disease (CGD) can have Norcardia. A simple blood test revealed that Mason’s blood lacked the DHR enzyme, indicating that he had CGD.
Genetic testing ultimately revealed that Mason suffered from two rare disorders: CGD and McLeod Syndrome. CGD immediately affected Mason’s ability to protect his body against bacterial infection. McLeod Syndrome has the potential to impair his cardiovascular and nervous system functions progressively over time.
Pediatric Hematologist Dr. Chris McKinney knew that a bone marrow transplant was the most favorable treatment course, but it was not without tremendous challenges. Besides finding a viable stem cell donor, Mason would likely need blood transfusions to support the transplant. Transfusion Medicine Specialist Dr. Kyle Annen knew that it would be nearly impossible to find an allogeneic donor (a third-party blood match) because of Mason’s rare condition.
When this happens in adults, they can donate to themselves (autologous donation) to prepare for a procedure that could require a blood transfusion. For pediatric cases, especially one like Mason’s requiring multiple transfusions, it’s never been done.
Enter Vitalant Research Institute
Doctors McKinney and Annen quickly confirmed that Mason’s 5-year-old brother Ethan was a perfect match for stem cell transplant and time was of the essence to figure out how to make an autologous donation happen. Vitalant Research Institute mobilized a team of researchers, including Staff Scientist Kathleen Kelly, Ph.D., Laboratory Manager Ray Moss, and Staff Scientist Kelsey Hazegh, Ph.D., and led by Vice President of Research and Scientific Programs Dr. Larry J. Dumont.
“Because of the patient’s size and the volume of whole blood that they could collect, we needed a customized process for low-volume freezing, deglycerolizing, and preparation for transfusion,” said Dr. Dumont. “We developed and validated the process while concurrently working with Children’s clinicians to collect the patient’s blood. We were also uncertain about the fragility of these unusual and rare red blood cells and if they would stand up to the rigors of freezing and thawing.”
The entire collaboration took about three months from special equipment, blood bags, detailed testing of the freezing and unfreezing process. Mason’s blood was collected on four occasions over four months and prepared with the modified methods in anticipation of transplantation support. Vitalant Research Institute will share these pioneered processes and learnings as methods and clinical papers for hospitals and blood centers to potentially replicate for other patients.
“Going into transplant, there were fears that this process wouldn’t work and that we wouldn’t know until the day of his transfusion if his blood would tolerate the unthawing process or if he would react to the transfusion. The process was pioneered for Mason and had not been done before anywhere in the world,” said Angela.
Mason successfully received his brother’s stem cells in September 2020. He needed two units of his blood, which his body accepted perfectly. Since then, his parents report only good news.
“Mason’s DNA is now a 100% match to Ethan’s,” Angela says. “His body is making the DHR enzyme, indicating he is cured of CGD. He currently has normal red blood cells. He is resilient, funny, and smart. Ethan is an amazing big brother, and we couldn’t be more proud of him. We are beyond thankful for every person that was involved in Mason’s care. We recognize the time, resources, and dedication that went into curing him of CGD.”
Mason’s medical journey is a testament to his team’s collaboration and innovation at Children’s Hospital Colorado and Vitalant Research Institute.