today's treatment

Today's treatment went really well. I premedicated with Benadryl and Tylenol, and used her numbing cream. I was in a hurry afterwards to get to a meeting so I just left her quick set needles in. When I took them out an hour later they didn't leak at all, usually a little bit of Hizentra leaks out. Fiona is doing really well, I think she's over her cold, and it was pretty mild.

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.

Genetic testing

Our insurance company says they will pay for Fiona's genetic testing as long as we get precertification. Because of some recent issues with our insurance I'm nervous, but excited. I was expecting to have to fight to get testing covered. It seems a little too easy.

We go to Cincinnati next Wednesday. We'll be drawing blood for the genetic tests. Christian and I will also be tested. It was mentioned at our last visit that we need to be prepared that we may find things we aren't looking for. Today I think that may be a good thing, but if they do find something we don't expect I may change my mind about that.

Fiona has diarrhea again. A bacteria called Shigella is going around our middle school. It causes bloody diarrhea and a fever. So far she doesn't have a fever (except for a low grade fever she's had for weeks), or blood.

Her treatments are going really well. I think it helps her that I can show her that I pull the metal needle out. When I say, "the needle is gone" she seems relieved.

We are worried about EV 68. As of yesterday there are confirmed cases in Northern Indiana. In normal kids it manifests as a cold, but in kids with asthma or immune deficiencies it's worse. We are starting to isolate Fiona. Because this isn't a new virus, the donated blood that her treatment is made of may have antibodies against it, but it was pretty rare before 2008.

making a plan

This weekend Christian and I are fasting and praying. I'm tired of our no diagnosis limbo. Everything I read says that transplanting early is better than waiting. So far she doesn't have any major illness, but how long will it be before she does. I don't want to risk her going into a transplant with a virus. On Monday I'm going to call Cincinnati to set up an appointment to present our plan. I'm going to ask for a thymus biopsy so we can see if that is where the problem is. If her thymus looks normal I'm going to push for a transplant. According to the Immune Deficiency Foundation, "Fortunately, the success rate of stem cell transplantation, particularly for patients without an HLA-matched sibling donor, has improved substantially over the past few years so that the risk of this treatment has become much more acceptable for less severely affected individuals." Fiona has an HLA matched sibling, so the risk is even lower.

Yesterday the middle school sent home a letter saying that they have had a case of Shigella at the school. Shigella is a bacteria that causes a fever and diarrhea. It's not really serious, but it is resistant to the antibiotic that Fiona takes.