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We went to see the GI on Thursday (after I posted this) because she's losing weight again. I'm hypothesizing that her intestines are inflamed and inoperable, just as they were when she was a month old. The GI agreed and ordered a stool sample and a capsule endoscopy to check her out. We got the results of the stool sample back yesterday, which confirmed that she's not absorbing nutrition the way she should be.

The endoscopy didn't go so well. She swallowed the little camera-pill just fine, but when the doctor examined the footage, he was surprised to find that her small intestine is not inflamed.

So now what?

Well, there's a plethora of things that could be causing this problem, but based on her medical history, the doctor is focusing in on something called multiple endocrine neoplasia type 1, or Werner's Syndrome. So, after the appointment, she got blood drawn so they could do a full mutational analysis of the MEN1 gene, and test once again for pancreatic function. I was scared. She meets so many of the criteria. Within two hours the doctor called to let me know that they had found significant pancreatic malfunction. The kidney tumors and stones that she's had in the past. The malabsorption of nutrition. The weight loss. The weakness. The fatigue. A billion other things that I never even mentioned here. It all adds up.

An hour ago I heard back from the GI. The analysis came back positive for Werner's Syndrome.

In many ways, I'm relieved. We have an answer for so many questions. But Werner's Syndrome is not the kind of thing that can be treated with one method or surgery or medicine. The best we can do is treat the symptoms. But this diagnosis means there are support groups we can join, there's projection for her future, there are answers and reasons and research to draw upon. It's not the answer to everything. A lot of her issues, like her seizure activity, are caused by brain damage sustained during gestation.

I don't know much about Werner's Syndrome at this moment. I will convey more information as I learn about it, but for now all I know is we have a name, and a future, and an answer.