Friday, March 28, 2014


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.

Thursday, March 27, 2014

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.

Wednesday, March 26, 2014

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.

Thursday, March 20, 2014

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.

Tuesday, March 18, 2014

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.

Monday, March 17, 2014

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.

Friday, March 14, 2014

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.

Thursday, March 13, 2014

new tests

Tomorrow we should get the package for the next round of blood tests for Fiona. After we get the results of these tests, if they are normal, we are discussing sequencing her entire genome. In order to do that they have to sequence my genes and Christian's genes. Genome sequencing costs about $15,000, and about 40% of insurance companies will pay for it. I was surprised to learn that even if we test all of her genes there are some genetic problems that won't show up.

I learned something funny today. There is a rating scale called the Karnofsky/Lansky scale. 100% means that you are totally healthy. 0% means that you are dead (do they actually rate you when you are dead?). I'm not sure why I thought it was so funny. Fiona is 100%!

Today I'm feeling a little discouraged that we haven't made any progress in diagnosis, but hopeful that we are starting some new testing. Waiting is hard.

Wednesday, March 12, 2014

Domed hizentra lid

I like to think there are two purposes to this blog, keeping friends and family informed, and being a resource to other moms of immune deficient kids. This post is for resource purposes. When I started Fiona's treatment on Sunday I popped all of the caps off the hizentra bottles and started to wipe them with alcohol. Then I noticed that one of them looked different. I called the nurse hotline and they told me not to use the bottle, send it back, and they will send us a new one. I wanted to keep pictures just in case, then I thought I should share them with you. This is about $130 worth of hizentra. I'm glad they're replacing it!

The bottom of the lid should be smooth, not rippled like this.

The lines you can see in the metal part of the lid are from the cap that covers the lid. The metal part pushed into the cap so hard that it embossed these lines. The lid should be smooth.

Monday, March 10, 2014

Great treatment

Yesterday's treatment was so easy for me. We are back to our small pump, and simple set up. Fiona did great. She said ouch a few times, but didn't really complain. I think she's developing a reaction to the new clear bandages, IV3000, we use over her needles. I've started to notice that when we use her belly she has a more dramatic swelling reaction, as well as a reaction to lidocaine and tape. It also seems like the weeks we user her belly are the weeks that she complains of pain. I think I'm going to premedicate with acetaminophen those weeks. I'm going to try switching back to benadryl instead of her anti-anxiety medicine. I would rather have her sleepy instead of falling down and grouchy later.

I've noticed an increase in her abundance of energy right after her treatment and the next day, which is today. So far today she's had breakfast, asked for more food an hour later, reluctantly took her antibiotic, chased the dog, dropped James off at preschool with me, watched 2 episodes of Diego, washed her hands 4 times, pumped soap all over my bathroom floor, played a preschool game on the kindle 5 times, pretended to rescue a giraffe, asked for more Diego, asked for help with her game, walked away from Diego and her game, took the mango I was eating, put a spoon in it and walked away from it, and asked to be put in pajamas. It's only 10:30. I'm not sure I can keep up with her today! I'm glad she feels good though.

After weeks of eagerly taking her antibiotic she's decided that she doesn't like it any more. Now I have to fight and hold her down, and keep her from spitting it out. The doctor said he wants her to stay on it until the end of April. Then she'll only take her weekend antibiotic.

Saturday, March 8, 2014

she knows

Yesterday Fiona brought me the blue case that holds her pump. I told her that her treatment is on Sunday. She told me that she wanted her treatment now, followed by, "I said so!". I'm amazed that even though her treatment is painful she still asks for it because she knows it makes her feel better. She has really dark circles under her eyes, I wonder if she's fighting something.

Thursday, March 6, 2014

What no one told me

When you have a sick child no one tells you how hard it will be. No one tells you how hard you will have to fight to get things for your child,things that she needs, but things that no parent ever wants. They don't tell you how hard it is to do what's best for your baby, even when it hurts her. There is nothing that can prepare you for the overwhelming sadness that hits at inconvenient times, like when you almost burst into tears at the grocery store. I'm amazed at how tired I am some days. I'm surprised by the frustration of trying so hard convince people, doctors, nurses, pharmacists, and strangers that they need to help her. I've become a germaphobe, not because I am afraid of illness, but because of what I'm afraid of what it will do to Fiona. Sometimes I wish for an easy solution. I'm sad and discouraged when tests come back normal. I don't want her to be sick, I just want to find an answer, a solution, anything. I've become an advocate. I ask millions of questions, and research everything. I can't imagine life without her. She's worth it all.

Wednesday, March 5, 2014

Insurance update

We found a way to go back to Biorx as our specialty pharmacy. After a long drawn out fight I feel like we won. Thanks to Melissa at Biorx, and my husband's employer's HR department we finally figured it out. It will be such a relief to go back to our normal treatments and routines.

Fiona continues to be healthy. We feel very blessed that she isn't sick. Finding other moms of immune deficient kids has shown me what a miracle her health is. I never understood what the doctors meant when they told us that she should be very sick, until I read about other kids like her.

Tuesday, March 4, 2014


We are trying to get the right pump for Fiona this week. Accredo called a few days ago and I went over all of the options with a pharmacist. After going through everything he told me that they didn't have any other options, and that none of them would be good for Fiona. Yesterday the manager of the pharmacists called and told me that she thought they could get the small pump for Fiona, but she had to look into it. She called back and said that they have it and will be sending it to us. I'm not holding my breath. A member of a support group for immune deficiencies told me that Accredo was supposed to send her the same pump, but once the head of nursing for her area found out the order was canceled along with the order for her medicine. They don't offer training for the pump we want, which is fine, because we used it for a few months.

We are in touch with someone from HR, she is trying to work everything out. Our three main complaints about Accredo are the pump, the separate copays for bottle sizes, and their lack of payment plans. One of their billing reps told me that until an account is paid in full they won't send more medicine. We are fortunate that we could pay for the first month of Fiona's medicine, which was $2,700. We hit our deductible last month, so until we reach our out of pocket we have a $150 copay. The bottle size issue will also be resolved soon. Accredo charges a copay for each bottle size. Right now we are getting 20, 1 gram bottles for $150, which means I have to draw from 5 bottles each week. We used to get a 1 gram, and a 4 gram bottle for each week, and I only had to draw 2 bottles each week. If we wanted 4, 1 gram bottles and 4, 4 gram bottles we would have to pay $300 per month. Ridiculous!

Fiona is still healthy. We saw our local doctor yesterday. We will be getting the stuff to draw labs for the next set of tests this week. Because they are unusual tests they need to go to research labs, which will be a challenge. First Cincinnati has to figure out where to send them, we have to have them drawn and sent to the labs, then Cincinnati has to figure out how to get the results.