Thursday, September 18, 2014

Cincinnati, labs, and genetic testing

When I get Fiona's labs back I feel like I'm opening a gift. Sometimes it's awesome, sometimes it's lame. I'm pretty happy with her labs from yesterday so far. Her lymphocyte counts are all a little higher, not normal, but higher than two months ago. She tested positive for rhinovirus, but negative for the major viruses, cytomegalovirus (CMV), Epstein Barr (EBV), and adenovirus. They brought in the ultrasound IV team to draw her blood. It was unpleasant, but quick, and they only had to stick her once.

They drew blood for genetic testing yesterday. We were able to talk to a geneticist, and she was great about answering our questions. She said that it's likely that Fiona has multiple genetic mutations working together to cause the problem. We know that her deficiency has a genetic cause, we just don't know what it is. Only 25% of people tested find a result, but as they learn what specific genes do, they may figure it out. The results will be back in 9-12 months. I wish we had know how long the wait was. I would have pushed to start testing a year ago. They are waiting to start the testing until our insurance preauthorizes it.

We had a chance to talk to the doctor and ask lots of questions. We're frustrated that we are moving so slowly. It would be nice if there was a test that would tell us where Fiona's t-cell problem originates. It could come from her bone marrow, or her thymus. If it comes from her thymus a bone marrow transplant wouldn't help. We know that her thymus looks good on a CT scan. We have tested for thymus related conditions, and they were all normal.

Today we are all exhausted. Yesterday was a long day. I think the virus is finally catching up to Fiona, she's taking it easy this morning. Hopefully she'll take a nap this afternoon.

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