Monday, November 4, 2013

Ring Ring

Written 10/31/2013
Everything with our little man has been excellent. He feeds well, poops well, sleeps well.... he is just angelic. He is happy, unless he has to wait for food. I tell him he is at the bottom of the food chain when it comes to our house. He has to wait his turn. He is not a fan of this at all. This morning I got a call from Dr Marsden. I thought he was calling to check on the circumcision. When I took him in for his one week appointment Dr Marsden had pulled at it a bit to form the ridge. I was expecting a question like, "How is Axel doing?" or "Do you have any concerns?" What I heard next was not at all what I was expecting. He went on to tell me that he had received a letter from the state and one of the screenings that is done during the newborn screening came back positive. Everything from there is a blur. I remember him telling me not to worry, but I was already choking on tears. I remember him telling me to come into the office, that labs were needed on both Axel and myself. I remember hanging up the phone and just sobbing. I called my mom to see if she would keep Beckham while I went to the hospital. I remember calling Q and texting him begging him to call me. I couldn't reach him so I messaged Sharon and woke up my sister. Moose took Becks to my mom's and Axel and I went to the hospital. We went to Dr Marsden's office first. They put a wee bag on him so that we could get a urine sample. They handed me a bunch of paperwork and I headed down to the lab. We were there a couple hours by the time they figured out what they were collecting and how to do it. Now it's the waiting game.

Info on what we are testing for:
http://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency

11/1/2013
I called Dr Marsden's office. I wanted to know how often they have false positive tests come back. He said about once a month. That was reassuring. I also wanted to know our next step if the test was positive. He informed me that we would start giving him a caritine supplement. He said it's a simple fix and we could avoid life long problems if we catch it early. We won't have the test results back until Thursday or so. We will know for sure at that time.
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