Soon after Oliver was born, it was obvious that something wasn’t quite right. He was taken to the NICU, where he was found to have low red blood cell and white blood cell counts, and he was given a blood transfusion. At first, his doctors didn’t seem very concerned with the low red blood cell counts. Their focus was on the neutropenia (neutrophils are a special type of white blood cell that fights bacterial and fungal infections). After 3 weeks in the NICU, his neutropenia improved, however his hemoglobin, a measure of red blood cell count, had drifted back down. Again, they didn’t seem very concerned - it is normal for hemoglobin to decrease in the beginning of infancy. They gave him another blood transfusion, sent him home, and everything seemed like it was going to be okay.

Seven days later, Oliver had his blood counts drawn again to make sure things were still improving. To everyone’s surprise, Oliver was anemic and neutropenic again. This started a work up that included a bone marrow biopsy, genetic testing, and several hospitalizations that culminated in a diagnosis of both 3q29 microdeletion syndrome (a genetic syndrome associated with developmental delay and neuropsychiatric conditions) and Diamond Blackfan Anemia - a genetic disorder in which the bone marrow is unable to produce red blood cells.

Oliver is now transfusion-dependent and must receive blood transfusions every three weeks to keep his red blood cells in a range that will allow him to thrive and grow. Unfortunately, Oliver’s specific genetic mutation is also associated with immunodeficiency, multiorgan dysfunction, a predisposition for cancer, and developmental delay. He faces many obstacles, yet despite all of this, he is a joyful child who brightens his family’s life each and every day.

Oliver’s story was featured on ABC7: