I received a call from a Neurologist at Children’s Hospital on Friday evening at 5:30. Of course she called my cell phone and I did not hear it so she left a message. She said that she came across some reports while cleaning out her office from when Nathan was in the Hospital over the summer. One of his tests came back abnormal and she wanted to be able to do another test to see what the results were. Of course, she then said to call her back Monday – Friday. As a side note, you should not leave messages like that for parents, all it does it make us worry. Jay and I called her first thing Monday morning and she told us that when he was inpatient at the hospital they were called in to do a consult due to his Optic Atrophy. They had ordered some lab tests and one in particular came back abnormal. It is the polg1 test. Now, I have done as much research as possible and it still does not make a lot of sense to me. But, the way I understand it is that his polg1 test had a genetic marker missing. They want to perform the test again to see if in fact that marker is missing or if there was just an anomaly in the test. Since he had genetic testing done back in May, they are going to call Baylor to see if they can use the blood that they already have to perform this test again. We asked what this would mean if it came back that it was missing. She indicated that it would give more evidence to an underlying condition and help determine treatment going forward. It may mean a medication change or supplements or maybe more. We do know that there is a link between this and the liver. It will take a while to get the results, but will keep everyone informed once we know.
As always with Nathan, we are just discovering more pieces of the puzzle. He is unique, quirky, funny, smart and wonderfully made. But, he is not broken. My hope is that if one day we can put all the pieces together, maybe some of this will all make some sense.