It's all in the genes

It's a long one, hope you are ready :)! Ok so first off, Justin started work last night and everything went well. He worked a 12 hour shift right off the bat, then met us at Emily's appt downtown and then slept in his car until he had to be at work tonight. Hopefully he can come home in the morning and crash for the day. Right off the bat he was told this was a temporary position, so we will count it a blessing that he is working at all right now.

Now then to Emily's appointment: ok, so they found a variation in the gene that they looked at, though it is not a marker for a specific disorder. Justin and I had bloodwork done today that will determine if either one of us has the same variation, in which case it is just the way we were all made and may not have anything to do with Emily's health issues (everyone has different variations in their genes). On the other hand if neither of us has the same variation that it began with Emily and is most likely the cause of everything (everything includes the recessed chin, fatty liver, odd body type, etc.). The unfortunate thing is that this is a brand new marker, the geneticist has never seen a case like this, the variation does not conclusively tell us what the disorder is. Emily definitely has the signs of lipodystrophy, along with several other disorders, but the geneticist is not specifically giving a diagnosis of any of the disorders. Rather she is going to recommend Emily to the National Institute of Health (it is a center of medical research) in Maryland as an undiagnosed patient. There Emily would be under the care of every kind of specialist necessary, all the best in their fields, and they would work together to "research" Emily. I don't know how long it will take for us to get into the program at NIH, but it sounded like the geneticist knew someone there personally. In the meantime we continue doing what we are doing; she will have a sleep study at some point, as she is increasingly snoring. We have to wait 2-3 weeks for the results for our bloodwork. Right now the path looks to be a long one, and it is frustrating to not be working with a cut and dry case, but we are so thankful that God knows what is going on inside Emily's body, and in fact made her to be just who she is.

On a side note, everything is good to go with the house, we are set to close on November 2oth. It is hard to imagine this not being our home anymore! We were not real successful in our house hunt this weekend, but once again we know God is guiding us, all we can do is lean on Him and take it one day at a time.