Audrina was admitted for NG tube placement today. I was under the impression we only had to stay a few hours, but because she's been vomiting 3 or 4 times a day now they wanted to keep her overnight. So far, she is tolerating continuous feeds beautifully, so that has been a huge relief. No throwing up at all. I hope she will start to gain and grow again.
We saw the geneticist yesterday and we feel very good about the outcomes from the appointment. Adam and I went together; it was nice to not to be there alone and feel like he was able to be there to support me. The geneticist thinks our next logical step is a muscle biopsy. Two, actually, of Addison's colon and leg.
We are debating surgery to help Addison's quality of life and to offer better management of her motility problems. Because of her history with anesthesia, we want this all done in one procedure, which is proving to be the difficult part. Only a couple places in the country offer what they call a fresh biopsy, which is the most accurate.
Sorry for the just the quick version of all of this, I've been so worn out lately from our appointments all running on top of one another. Hopefully Audrina gains weight well and tolerates her NG tube, I just want to see her growing! There has been some concern for her liver so we will be investigating that further and watching closely for any signs that something isn't right. If Addison's muscle biopsy is positive, the next step would be to biopsy Audrina. But we will cross that bridge when we come to it.
What is suspected most, is a type of Mitochondrial Disease called MNGIE. Specifically, something call POLG1, which is the gene that may be affected. This is typically a neurodegenerative condition but we don't see the point in worrying about until we have a diagnosis. After all, over a year ago they were sure it was cystic fibrosis.
One of the things they found in both girls is elevated lactic acid, and elevated Beta-alanine levels. Beta-alanine is neurotoxic and could be partially responsible for the regression. It also affects carnosine, which controls how your muscles recover from stress. If this is the case for them, Neocate is high is B6 - whereas breast milk is very low in B6. Vitamin B6 is what helps your body clear Beta-alanine. So that could be partially responsible for them doing so much better on the elemental diet - however both tests were done on Neocate and both are still elevated quite a bit even on that.
More info tomorrow... Tomorrow afternoon is Addison's Autism evaluation. I'm really nervous for this for some reason.