CDA type 1

The story of Cara

Our son was born in 2010 via emergency c-section due to a low heart rate. After he was born, he was put on a ventilator because of persistent pulmonary hypertension of a newborn (PPHN). What the doctors found though was that he had a hemaglobin of 5- normal being over 13 for an infant. He was so low on hemaglobin (the oxygen carrying red blood cells) that his skin was making red cells since his bone marrow wasn’t. After a 35 day stay in the NICU, and 9 blood transfusions, we brought him home still with no diagnosis of why he was not producing enough hemoglobin. After a few months and a few more blood transfusion, they did a bone marrow biopsy and aspirate and found that he had Congenital Dyserythropoietic Anemia but didn’t know the type of CDA. Our hematologist sent my son, my husband and my blood over to Israel because they were the only people doing genetic testing because it is so rare. We were told there were only about 30 cases in the USA of CDA and the 3rd ever case in Iowa where we live. After the genetics came back it revealed that he had type 1 of the CDA. There are 3 ways to treat CDA, 1 being bone marrow transplant, 2nd being interferon medication and the 3rd is that the body spontaneously generates enough red blood cells which is what is happening in my son’s case. He hasn’t needed a blood transfusion in 5 years now. His hemoglobin averages around 8.5-10.5 still lower than that of a normal child but he is functioning as a normal 5 year old.