Great example. Well kinda. Couple comes to our practice. Baby fails newborn screen on MCAD, but given another baby on the same day also fails, it is assumed that an error has been made.
So, I have to explain their baby may have MCAD plus explain they may not and somehow give the news that the hospital probably made a mistake. Had to repeat newborn screen, do all sorts of DNA testing. I chose to do plasma acylcarnitines and urine acyclglycines. I spoke with state geneticist several times. I spoke with state newborn screening several times. I also went out of my way to talk to the leading metabolicist.
Spoke with parents many times over the phone at length deciding when with each spit up should the baby go to the ED for IV fluids and dextrose. Spoke at office multiple times to explain disease if present.
Turns out both babies did have it and both babies were carriers. Not affected.
So, I got them through the initial scary event, and today they tell me they are transferring to another office, because it is 15 minutes closer.
That's the weird thing. Wendell can tell you that in Chicago driving 45 minutes means nothing whereas in Bangor, 15 minutes seem like an eternity.
But, they did say thank you, so all is OK.
