MicroGant Success: From Dr. Jacob Rozmus, BC Childrens Hospital
The microgrant allowed us to access novel state-of-the art tools in order to diagnose a very rare primary immunodeficiency. There are less then 15 known cases in the world. We were able to give a frustrated patient and the family a diagnosis and more importantly it allowed us to shift our clinical care from not just treating symptoms of the disease but being able to offer a cure. This patient is the first in the world to undergo cord blood hematopoietic stem cell transplantation for this disease. We would not have been able to start this journey without the support of the Rare Disease Foundation and we very grateful for the support. Thank you.