The great news today came at Rounds. The genetic test for Menke's Disease was back and it was negative. We've been living with a cloud over our heads for so long it seemed normal but I finally realized what a weight it has been. Thank God this test was negative!
The plan for today includes figuring out how to get the next CCHS test done. The doctors are going to call the lab in Chicago where they did the original CCHS test to find out what we need to do to get the gene sequencing done.
They also want to do an echocardiogram to look at Eli's heart. We've been told that this is a standard workup in a baby that presents with hypotonia so our obvious question is why have we waited until now to do it? Remember all those conversations we've had about being proactive and have we run every test we can to diagnose Eli? Somehow we missed this and it's becoming clear to us that we need to keep pushing every single day to make sure we're getting the best care for Eli.
Patricia was present during the echocardiogram this afternoon and while we don't have the official results she overheard the technician saying everything looked normal. Obviously we need to double check this tomorrow morning to make sure that's the correct result but it made us feel better about Eli's heart.
We also found out that the lab in Chicago would use the blood work they had for Eli's PHOX2B test to do the gene sequencing. That's good news too because it means we don't need to suck anymore blood out of our previously anemic son who has just received donor blood and appears to be doing really well. You have to keep the vampires at bay when you can.
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