Our Story (part 2: The Diagnosis)

We came home from the hospital on Saturday morning June 8th and had our first day home with the babies. My mom had come to stay and help with our two new bundles of joy. Sunday morning, she noticed something was wrong.. Alaina was sleepy, more than usual. We tried to feed her, she wouldn’t eat. I tried getting her naked to wake her up and still we weren’t getting a good response. I called the nurse line to ask them what we should do about her eating less and having less diapers through the night and into the morning…. as I was on the phone, my mom came back and said, her temperature is 96….. my heart sank. They told us to take her to the emergency room. we bundled her up, blasted the heat in the car and ran into the ER. They took her back right away and took a rectal temperature and got 93. I lost it. They had us do skin to skin while they got the warmer bed ready. Then a  whole team of medical staff surrounded her in the warmer, connecting our 5 lb baby to wires and monitors. Its kind of a blur and I don’t know how much time passed but they took her away to CT and came back and said she needs to go to Atlanta, she needs surgery for a brain bleed and the surgeon in Macon does not operate on babies this small, we have already called and they are sending an ambulance down to get her. The following 5 hours were some of the longest of my life. The ambulance broke down and they had to send another. Josh rode with Alaina to Children’s Healthcare of Atlanta, Egleston Campus NICU. I drove with a 4lb Amber in her special preemie car bed, in the dark through the worst rain, with my mom following in her car. We finally arrived in the NICU. I left Amber with my mom as she was not allowed back in Alaina’s room, only 2 adults were at a time. I walked into a dark room where my husband sat, head in hands, next to Alaina in her warmer bed. There was a doctor in the room. I went and put my hand on Josh’s back and said, “Its okay.” and the doctor looked at me and said, “No, no its not okay.”  This is the part where I lose track of a timeline, through doctors giving us information and options about surgery, and still taking care of our healthy baby outside the NICU. At some point, a room full of specialists sat the whole family (grandparents included) in a room to talk about possible bleeding disorders because they could not figure out why she had such a severe bleed with no trauma. At one point hemophilia was mentioned but they weren’t sure because it normally only happens in boys. I piped in saying THEY HAVE TURNER SYNDROME!

5c.hemophliachart

Here is a chart with one example about how hemophilia can be passed. What I want you to notice is the carrier daughter. This is what Amber and Alaina would be classified under……. except because of the Turner Syndrome, take away the black X. You are left with a red X… severe hemophilia.alaina2

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