insurance

I feel like I need to know everything about our insurance, how it works, what they pay, and how they keep track of out of pocket and deductibles. I try to check their numbers. They never make any sense. The numbers are always off because of pending claims. What I know is that we are $811 away from hitting our out of pocket. I think we'll make it!

Next week we get to go back to our specialty pharmacy. I'm so excited! Having one specific contact person I can call or text with questions, who knows our history, and understands our issues is a relief.

Our plumbing issues are fixed completely, they are filling in the holes in our yard as we speak. The contractor is coming out with the estimate for fixing the damage. On Wednesday they came and took out everything that was damaged, carpet, linoleum, baseboard, drywall, and the vanity.

genetic testing

When Fiona was an infant we took her to a geneticist for a minor issue. He explained that we all have genetic abnormalities, but most of them are minor or just cosmetic. He showed us an extra crease on one of his fingers and said it was genetic, but it didn't cause any problems. I think we are going to see a geneticist again, this time to try to decide if we will test all of her genes. From what I understand we are looking for a needle in a haystack. We may or may not find something useful. I keep having that what if feeling. What if we don't test, and we miss something? What if we do test and don't find something? I'm not sure yet if our insurance will cover it, we can't afford to do the testing if they don't. I was reminded this week of how lucky we are that she is healthy. It would be nice to have answers about what she has, but if she maintains this level of health for the rest of her life I would be happy.

plumbing trouble...

On Sunday our downstairs toilet backed up. It overflowed. Gross! Luckily our insurance is covering the damage. For two days we couldn't put anything down the drains, or flush toilets. I'm especially worried about what impact this will have on Fiona. The nasty water was in the hall, closet, bathroom, and living room. The claims adjuster sent out a clean up contractor. The plumber is supposed to be here today to pipe burst our sewer line, which will create a pipe inside the pipe. In order to stay positive I keep thinking at least our downstairs bathroom will be remodeled, and we will have nicer carpet in the living room. I'm so thankful for everyone that suggested putting in a claim with the insurance company. I won't have to live with the "dirty hall". I've decided that this should be the end of our trials.:) Too bad I'm not the authority on this. Christian says he can hear the locusts coming.

I saved the best news for last. I have a cold. I feel horrible. Fiona is not sick at all. Hizentra is a miracle. Something is working in our favor. That needs to be celebrated.

burnt out

Our next appointment in Cincinnati is the first week in April. I'm not sure what the plan is, but I want one going forward. If we don't sequence Fiona's genes there aren't any more diagnostic tests. I'm going to ask them to test her CRP, which is used to check for autoimmune diseases. I'm also going to ask for t-cell and b-cell levels as well as function, these are the things I feel need to be monitored.

It seems strange to think we are at the end of trying to diagnose her. They've come so far in understanding our immune systems, but there is still so much they don't know. It's only in the last 20 years that they found people with t-cell deficiencies outside of AIDS or SCID. AIDS research is the main reason that t-cells are understood as well as they are.

I'm starting to feel burnt out trying to learning about what could be wrong. If she's stumped the doctors, am I really going to find the answer? There was a time that I could tell you almost all of her numbers from her labs. Now it seems like too much effort, and it feels like they don't mean much anyway. They go up and down so frequently that I've stopped keeping track. Pretty much I feel like as long as her labs stay low, but stable we are just going to watch and wait.

I hate feeling like she is always at risk of developing a life threatening infection. We are protecting her with infusions and antibiotics. I think this summer we will test her immune system to see what happens. I'm not sure I will ever feel comfortable taking her to a crowded place, or sending her to school.

next appointment...

We are trying to figure out when to see Cincinnati again. The labs that we drew take 8-12 weeks. I'm leaning towards one between now and then. We haven't seen them since February. We're discussing taking Fiona out of isolation slowly as cold and flu season are coming to an end. I would like to see where her IGG and T-cells are before we expose her to anything. I'm thinking sometime in April.

We are also trying to figure out what we want for testing. We can sequence her genome, but it's expensive, and only 40% of insurance companies will approve it. It's also a long shot. We may or may not find something. I think we may be meeting with a geneticist at our next appointment. Other than the full gene testing we are at the end of diagnostic testing.

We are facing the very strong reality that she is the only one with this condition. I appreciate our doctor's efforts. Many doctors would have given up by now. While I'm frustrated that we haven't found anything yet, I know that we have pursued every option.

tests and treatment

I took Fiona to our local doctor to have her labs drawn on Friday. It was pretty easy, especially considering how labs have gone in the past. I'm thankful for the amazing lab tech who always gets her vein on the first stick. Mailing the packages was interesting, the lab tech and I had to guess how to package the samples. There were some instructions on the bag, but they weren't super helpful. In the end I think we did it right. I had to call Fedex to find a location that would accept clinical samples. They had to verify that they weren't infectious. We may have one more test like this, so I'm glad I know how to mail them.

Fiona's treatment went really well yesterday. She's reacting to the numbing cream and clear bandage (IV3000) again. I didn't use the numbing cream, but she only said, "ow" when I stuck her, so that's progress. Before she was shaking, swatting at the needles in my hands, and screaming. I think this will continue to get easier. I'm asking about some supplies that may continue to improve her treatments. One is a wipe that creates a barrier between the skin and the bandage. The other is a needle set (the needles and attached tubing) that has a metal inserter needle, which is pulled out and a cannula is left behind. A cannula is a little flexible tube, like what is left in a vein during an IV.

lab package

The package for Fiona's next labs came today. It feels a little weird to have the tubes and be carrying them to our doctor's office for the draw. Once they draw the blood I don't know if they will hand it back to me, or send it out. Either way works because Cincinnati included everything to send them back.

There are three tests. I think they are still trying to figure out where to send the fourth test. These are very unusual tests. As of 2012 one of the genes they are testing has only been confirmed in 4 patients. Knowing that Fiona is that rare is a little unsettling. They are still developing treatments for these conditions, and I want the best for my baby, not the best guess. As much as we want answers, these are things I don't want her to have.

I'm not looking forward to the blood draw. I'm thinking about putting some numbing cream on her before, and maybe premedicating with tylenol and her antianxiety meds. Most days feel pretty normal now, even treatment days, but blood draws are stressful for both of us.

Today I'm trying to focus on how fortunate we are to have a great team of doctors who came up with new ideas when the typical ones don't fit. I'm starting to understand, and process that Fiona isn't going to be diagnosed with a common immune deficiency. The uncertainty about the future for her and our family is a challenge. Not being able to plan for more than a month at a time when you have 5 other kids is crazy.

For reference for other parents they are doing ITK gene sequencing, CD 40 full sequencing type 3, and CHD 7.