They're special. Magnified.

We had our wrap up session with the doctor. Discussions about the results, discussions on our mutant family, information specifically on MRI results with a fabulous liver doc (who made us laugh), and we received a stack of papers for our return to our care teams for the kids.

I can’t figure out if nothing feels like a huge surprise or if we’re just so used to surprises where the kids are concerned medically that it feels normal now. But there was news, not earth shattering news, but news worthy all the same.

Gage and Quinn are mutant. Well, she didn’t actually say that, but she said that Gage and Quinn seem to have a variation on a spectrum of two kidney diseases. The diseases both end in kidney failure so, pick one I guess. She drew a line between the names of them and a circles around them listing symptoms associated with them and Gage and Quinn fall somewhere into each of the circles on the edge and somewhere on the line of kidney involvement. Like I said: no surprise. I guess they are connected to Joubert’s Syndrome more than we guessed previously because of the subtleties relating to the 6 year old MRI on Gage, some lab values that are too boring to document, and the liver association not presenting completely like ARPKD CHF (congenital hepatic fibrosis) but presenting in their own category. She hesitated to even place the Joubert’s label on them because their case (of JS) is so mild. Hence, her saying that their manifestation is completely their own, not yet documented, as we’ve been previously told many times by Dr. Wonderful.

The good thing she pointed out that I hadn’t looked at yet, which makes perfect sense to me now, is that with what we are looking at we most likely have seen it all. Meaning, that if we haven’t seen a symptom by now that dramatically impacts their lives (more than we know the educational issues and failing kidneys/transplant do), then we probably won’t. We’ve probably know what we need to know for them and their futures – kidney now, liver later, educational throughout. If there was something else, we would have known by now. How’s that for comforting?

Quinnlin’s labs are cause for concern and the best non-invasive tests show her at about 23% kidney function (this has a varying degree of either plus or minus 10ish points). It’s probably best we have a plan lined up because really, we don’t know if her function will limp along like other ARPKD kids or be just like Gage’s kidney function – die fast and hard. She said that with siblings with variant forms of cystic diseases have their own disease track, specific to them. I had been thinking that Gage and Quinnlin’s might be similar, but that is not necessarily the case. Special for us, I know.

Quinn’s MRI showed strangely developed (as best he could tell on this type of imaging) parts of the liver that we need to recheck maybe in a year to verify what he is seeing. It isn’t anything to freak out about now, but it can cause problems, which he suspects she is already experiencing. Her lab values are higher where the liver is concerned (higher being not good) which are higher than Gage’s have ever been. He also thinks that her current symptoms of itching, tiredness and loss of appetite could be associated with the liver function (or again, could be kidney function). I am going to call tomorrow to get her in next week back home with our neph and will probably have labs done before the appointment. Her potassium came back down so we don’t need to continue on that nasty med for now, but I see it in her near future. We talked a lot about her diet and will try to prepare us all on the in-kidney-failure-diet in the coming weeks.

The tide has shifted to Quinn. I knew it would come, but honestly it just feels like it is so close to Gage’s transplant. Or maybe it is just me, but a year out from his, just doesn’t seem like a long time when I look at discussing a transplant for her. It feels strangely different from his because of her little soul and what she needs from me to cope, and because I’ve been through it once before. In theory she will benefit from my having been through it before as a parent, but because her needs are so different it feels like we’re going through it together like the first time. I know, I’m rambling. It’s because I can’t artiuclate it all sitting in the common area of The Children’s Inn in the quiet middle of the night having just had a week of nothing but kidney, labs, MRI and liver talk. My mind is a jumbled mess of images of cute kids and crappy kidney pictures in the O.R. and meds and who will donate to her and well, you get the idea.

I think it was worth coming. I/they aren’t sure we’ll benefit from coming next year, but we’ll discuss as the year passes. The doc thanked us for coming and for widening the spectrum for them in research terms. Gage and Quinn’s mutation helps point them in a direction to look for genes that they haven’t looked for before and for that I am grateful. She mentioned that it could be a couple of years of them searching for our particular gene mutation before getting an answer of any kind on what/where this all happened in our gene pool.

So, that is that. Gage and Quinnlin are as unique as we ever thought they were. Now, everyone at the NIH knows it too.

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