My diagnosis story is most likely different from anyone elses. Not because the story is way out there or anything, but because each of butterflies are unique and so are our stories. I was diagnosed with Turner's Syndrome at the age of five. It all started with a simple check-up appointment with my pediatrician. He was listening to my heart and he heard a murmur in my heart. As my mom tells me, he thought he had heard the murmur when I was two, but dismissed it.
My pediatrician then sent my mom and immediately to a cardiologist. I was immediately brought in for an echocardiagram. After the echo was done, we got to see the doctor and discuss what he saw on the echo.He began telling us that he didn't see anything major wrong other than two of the three valves on my aorta were fused and I had a very small pin hole that needed to be looked at every so often. The particular cardiologist that my mom and I were sent to just so happened to have a few patients who had Turner's. As he was speaking with my mom and I, he suddenly asked if he could take a closer look at my hands, feet, and neck. After he looked closer, he told my mom that he didn't want to alarm her, but he wanted to send my for what is called a karyotyping test to see if I had something called Turner's Syndrome. He then proceeded to explain to my mom exactly what Turner's was. He also explained that there were two different versions of Turner's, Classic and Mosaic. He also explained the difference between the two.
The next day, my mom took me to have my blood drawn for the karyotyping test. A couple days later we got a phone call that the lab had messed up while performing the test and they needed us to come back in to re-draw my blood. My mom was of course a little angry. We obviously went and did the re-draw. We then had to wait like a week to get the results back. My mom was very anxious and worried theat entire week. She didn't totally understand what could possibly be wrong with her little girl. Then the call came and it was official.....I had been diagnosed with Mosaic Turner's Syndrome.
