I came home from Cincinnati with a stomach bug, now Fiona has it too. I hope it's short lived.
The Ronald McDonald house was amazing! The rooms are comfortable, the common areas are nice, and they have a huge kitchen. They have 2 meals each day provided by community groups. There are fun activities, and lots of toys for the kids. We loved it. It was a good first trip, and we learned a lot about the house. I realized on this trip that we have a child with a chronic illness. I knew that she was sick, but I've never thought of it in that way before.
Our appointment with the gastroenterologist was great. He answered a lot of our questions, and I feel like I really know what's going on with Fiona's belly. He commented that her belly was really distended, but we've been dealing with that since she was born. I don't think they will do any scopes unless they are prep for the transplant.
Our appointment with hematology was confusing. Last time it seemed like there were no other tests beyond the genetic SCID panel for diagnosis. Now it looks like there are some other things. They need to make sure that her thymus exists, and that it is functioning correctly. Once the genetic test comes back they will look at other genetic problems. One that was mentioned was CHARGE syndrome. After I googled it I'm sure she doesn't have it. The doctor asked if I had gestational diabetes during my pregnancy with Fiona. I did. He said that can cause problems with a child's thymus.
We are frustrated with the up and down. One appointment we feel like we are going to transplant, and the next we are sure that they won't. Not being able to diagnose her condition beyond symptoms and abnormal labs is frustrating. We can't plan our future, because we don't know what it will be.
The labs that have come back so far look about the same as before. Some of her T-cells have come up a little, but her helper T-cells are still low. Her IGG is at the high end of the normal range. She has more energy than we've seen for a long time. They also drew labs for James and Abbie, our two sibling match donors, to make sure they are positive or negative for the same viruses as Fiona.
In summary, we want a diagnosis, we want to move forward with the appropriate treatment, and we want to be able to plan our future. We're tired of making plans that don't happen. It would be nice to have a treatment that would fix her condition. Someday I would like to walk into an appointment and have them say "we found it!".