Last week I received a call from the genetics/metabolic clinic. The nurse told me that KayTar's recent test for VLCAD was negative and they were dismissing her from clinic. I was irate. I don't care that her test was negative, I mean, what is one more negative diagnostic test on top of the giant teetering stack of negative diagnostic test she already has in her file? I cared that she was being dismissed altogether. "I don't know." is an acceptable thing for a physician to say, but "I quit." is not acceptable, at least as far as I'm concerned. I understand not having any new leads or any idea what the next step might be, but if a kid has a metabolic issue, then metabolic clinic should continue to follow her case at the very least. Follow up once a year, maybe. However, I didn't say any of this, I just said, "Thanks. Goodbye." and choked back a few hot, angry tears.
Yesterday we had a follow up with endocrine which I feared would be a repeat of that last interaction with metabolic clinic. I was pleasantly surprised; the doctor and I actually spoke to one another, she reviewed her chart, labs results, and got updates about how things have gone for the past few months at home. At the end of all that, it turns out, I was RIGHT months ago, when I said it was ketotic hypoglycemia. It is a diagnosis of exclusion and since we've excluded EVERYTHING imaginable, we are officially calling it idiopathic ketotic hypoglycemia. I wish I could have been right without all these miserable tests, especially the inpatient fast, but I know they had to rule all those other conditions out. The diagnosis itself is just a catch-all and idiopathic is fancy medicalese for "who knows why!", but sometimes that is the best modern medical science can offer. It is better than nothing and being right is somewhat satisfying. Wonder if I can put this on my med school applications? ;) Basically, we will continue to do what we are doing; glucose checks, adding cornstarch to her feeds, frequent feeds, monitor her activity levels, test for ketones, overnight feeds when sick, go to the ER when we can't fix things at home, and follow up with endocrinology in 6 months. Hopefully, she will outgrow it at some point!