We had absolutely no warning or indication that a thing was wrong with Danielle...her diagnosis was a huge shock to her pediatrician and us. At the end of October 2004, Danielle's pediatrician detected a heart murmur during a routine well check up and referred her to a cardiologist to get an official diagnosis - she wasn't concerned at all, just wanted it documented in her chart for when Danielle was in school and playing sports. The cardiologist performed some tests and determined that her heart was structurally and functionally good, but he detected a bruit in her neck, which was causing excess blood to be pumped into Danielle's head. He referred us to a neurologist.
The neurologist wanted to perform an MRI on her to determine the cause of the bruit, but was concerned that she may have anemia and wanted to be sure before her procedure was scheduled so she would know how to sedate her. She ordered a CBC because she was concerned with Danielle's coloring, but I still was not worried because Danielle had always had porcelain skin. Not an hour after her blood was drawn we were called and told to come back to the hospital as soon as possible because her blood counts were dangerously low. The crazy thing about the weeks leading up to Danielle's diagnosis is that we were able to get into two specialists (cardiologist and neurologist) within two weeks - I called the cardiologist's office and asked if another doctor in the office could see Danielle sooner than a month and was in that week and then the neurologist had a meeting cancelled and asked if we could come in that day, last minute. I won't get too religious with you to remain within the rules, but I know God was responsible for getting us a quick diagnosis.
Keli, Mom to Danielle (4), dx pre-b all 11-1-04, Alex (2) and a baby girl on the way in March! www.caringbridge.org/oh/deryck