July 2022 – One of the most fulfilling parts of our work at the Foundation is supporting patients and their families through our “Roots & Wings” program. Over the past several years, we’ve formed a special connection with a little girl named Pierina Maldonado. Today, I’m honored to share her “Roots & Wings” story—today she is cured!
Pierina and her family are from Huancayo, one of the poorest cities in Peru with limited care options for patients living with Primary Immunodeficiency. Pierina was diagnosed with a rare, combined immunodeficiency: Activated-PI3K-Delta Syndrome. When we learned that Pierina’s care would not be feasible in Peru, we knew we had to support this courageous child however we could.
Pierina is a patient of Dr. Aldave, one of our JMCN experts and an extraordinary physician. Dr. Aldave was aware of a clinical research protocol for the hematopoietic stem cell transplantation (HSCT) that Pierina would need at the National Institutes of Health in Bethesda, Maryland. And so, arrangements were made for Pierina and her mother to travel from Lima to the NIH facilities in 2017 for her initial evaluation by Dr. Gulbu Uzel and Dr. Jennifer Kanakry. Unfortunately, during her evaluation, her doctors determined that her liver was not healthy enough to move forward with the HSCT procedure. They started her on a recovery medication to improve her health and confirmed a follow-up visit for 2019.
After two years on the medication and healing at home, Pierina and her mother once again traveled to the NIH to undergo follow-up tests and further evaluations by Drs. Uzel and Kanakry. They ended up staying there for several months!
At last, in 2020, Pierina was healthy enough to receive her HSCT thanks to the remarkable care and compassion of the physicians at the NIH. In late January, Pierina and her mother arrived at the NIH for her transplant and follow-up evaluations. They were due to stay for about seven months, and if all went well, Pierina would be able to return home cured!
With great relief and excitement, we learned that the transplant had been successful, and Pierina would be able to return home—her health had been restored!
Sine then, Pierina and her mother have travelled back to the NIH for two follow up appointments and evaluations. She has gained height, weight, and is doing extremely well. Pierina is happy, healthy, and enjoying her childhood. What more could we hope for?
As ever, we are in awe of the medical care, support, and guidance from all of the physicians involved in securing Pierina’s care and ensuring her recovery continues to be successful. It brings us unbelievable joy to see her thriving and living life to fullest. Pierina was even able to travel to Machu Picchu this year! We are so grateful to have the opportunity to support Pierina’s care, and look forward to following her journey as she continues to grow and heal in the years to come.