nap time

I'm trying to find the full text of an article in the New England Journal of Medicine. The only thing I can get online is the summary. The article is about bone marrow transplants for immune deficiencies, it includes survival rates, and hopefully survival rates after infections. I'm starting to feel some urgency to move forward with something.

another rough treatment

Fiona's sticks yesterday were hard. I'm okay with sticking her until she cries. When she cries it takes everything I have to keep going. It looks like we are going to get cannula needles in our next shipment. I really hope they make her more comfortable. We are also checking to see if we can get some help for pain management to teach her to deal with the pain better.

still learning

There's a test called CD45 RARO that they've been doing every few months for a year. I always see it. Most of the results are too high or too low, but I've never understood it until today. I'm not sure I fully understand it, I just understand more of it. Today I know way more about immunology than I want to think about.

I went to school registration for my middle schoolers in the middle of Fiona's treatment. She stayed in her stroller and didn't touch anything. Luckily it wasn't crowded, so not much exposure. I mentioned to my friend that I was planning to home school Fiona. There's no way that I would send her to Kindergarten with her immune system. Her reply was, wow that's dedication. I told her that I just didn't want Fiona to die, and that I would have never considered home school with any of my other kids.

This week I want to put Fiona in a bubble. With her lymphocyte count going down, and her neutrophil count at the bottom of a normal range I want to avoid exposure. Avoiding exposure means avoiding life. Fiona isn't willing to do that. She picked up a big plastic candy cane yard decoration from last Christmas and tried to eat it. I was worried about the dirt on the bottom. She was mad that it wasn't really candy.

Next week we are going to check her igg level before her treatment to see how low it gets a week from her last treatment. I'm curious to see if it changes. Injecting the hizentra into the subcutaneous tissue is supposed to keep her level even through the week.

more mold

When I pulled up the linoleum in our pantry there was more mold. I think it came from a leak in our air conditioner. Once we clean it out, the last three spots are the laundry room, under the kitchen sink, and a closet upstairs. I can't wait to have it cleaned out and stop worrying about if it will make Fiona sick.

More labs

Fiona's igg levels are slowly going down. She was 1240 in Feb, and is down to 924. Her level is still good, but we need to watch it. We are planning to test the day before she gets her next treatment to see what her low igg is.

Her white blood cells are low, 2.9. Her level would be considered critical if she had a normal immune system. Because of her immune deficiency she wouldn't be critical unless it dropped to 1. Her absolute lymphocyte (combined b cells and t cells) count is low too, .87. Since she was diagnosed her lymphocyte count has been up and down, but the general trend is downward. If she gets to .5 we will talk about bone marrow transplant again.

She's still positive for adenovirus in her stool, but not in her blood. If it was in her blood they would be very aggressive with treatments. She's been positive since the end of March. They keep telling us that it may be a long time before she is negative again.

Two of her t cell lines (regulatory and killer) are the lowest we've seen. Her helper t cells are still low too, 149. A low helper t cell count means that she is at risk for opportunistic infections, which are infections a normal immune system could fight, but a deficient immune system doesn't fight well.

new labs

Fiona's white blood cell count is the lowest we've ever seen, 2.9 there's a note on her cbc that says, "critical result checked". I don't know what that means. I've decided not to worry until I know. Her absolute lymphocyte count is .87, it's never been below 1.1. We're still waiting on more labs to come back.

appointments

Yesterday we saw our local doctor. Fiona looks great, no thrush, and no infections. Because of the liquid bactrim shortage he prescribed tablets that we can crush and mix into foods. He had some suggestions about what to mix it in, we're going to try frosting.

This morning I had to get up early to take my dad to the airport. Fiona woke up early with diarrhea. We go to Cincinnati today, so I'm sure they'll check her stool.

treatment day

I'm just getting started on this weeks treatment. I like to start treatments before nap time so she sleeps through most of it. Yesterday and today have been so crazy that I keep putting it off. Tomorrow we see our local doctor and Wednesday we go to Cincinnati.

The preventative antibiotic that Fiona takes is on backorder. In June one of the two manufacturers discontinued 3 formulations. There's just on manufacturer left, which honestly makes me nervous. We had some extra on hand so I didn't know about it until 2 weeks ago when I asked for a refill. The pharmacy was able to compound it for us using pills, but it tastes really bad. According to the manufacturer it should be available by August. This is a drug that is life saving for AIDS patients as well as children with t-cell immune deficiencies like Fiona's. It's used to prevent opportunistic infections (infections that a person with a normal immune system wouldn't get.)

flooring

With careful planning and shopping around we were able to stretch the money the insurance company gave us to buy new carpet and linoleum. I'm glad to say that we are replacing all of the flooring downstairs. When we moved here 8 years ago the carpet was gross. Eight years of kid messes didn't make it better. After trying and failing to get the carpet clean, I feel like this will make Fiona safer, and me less anxious about the risk from germs.

Fiona is still healthy. She gets tired easily, but she keeps going until she falls down, literally. As her mother I've been thinking about how much we have to limit her. It's hard to know that in order to protect her from the world we are keeping her from things she would love. She would love to go to nursery at church. She would love preschool. I keep hoping for a bone marrow transplant before kindergarten.

Mold

As we've been pulling out carpet we've been finding spots of mold. We're working on treating it, running a dehumidifier, and finding sources of moisture. The spray we're using prevents mold from growing back. We'll probably need to have our heating and cooling ducts cleaned. Yuck! Fiona is on Diflucan to prevent thrush, so she has some protection. Have I ever mentioned that this is not my favorite house? It's not.

new treatment photos

Last week I realized that it's been a long time since I posted treatment pictures. We've added sites, and changed some supplies, so I took pictures last week.

Numbing cream with clear window dressing.

All of our supplies, infusion journal, IV 3000 window dressing, pump, hizentra bottles, kind tape, alcohol wipes, tubing, bottle spikes, gauze pads, numbing cream, and syringe.

Fiona's infusion journal. See the stickers, they come off the bottle, so we know lot numbers.

I pop the lids off the bottles and wipe with alcohol wipes.

This is the spike I put through the top of the bottle.

Spike in the bottle, it goes through the rubber seal on top.

Drawing the liquid out of the bottle. A few months ago I learned that if you pull air into the syringe and push it out before attaching the syringe to the spike it spreads the lubricant, and the plunger is easier to move.

Hizentra is really bubbly.

After I draw up the Hizentra I tap the side of the syringe to get the bubbles out.

Most of the bubbles are removed.

This is our newer tubing, with 4 tubes and needles.

Syringe full of Hizentra attached to the end of the tubing.

This tubing is longer than the high flow needle set tubing. It's easier for Fiona to move.

This is the window dressing that comes with the needle sets. I never use it. It gives Fiona rashes.

This is the window dressing that we use, IV 3000. It has tiny dots of stickiness, and doesn't give Fiona a rash.

Numbing cream has been on for 45 minutes.

I peel off the dressing.

Then wipe the cream off with a gauze pad.

You can see that her skin is lighter where the numbing cream was. The nurse told me that's how we know it worked.

Once the cream is off I wipe her skin with alcohol.

You can see the liquid in the tubing. I push the liquid close to the needle end of the tubing. If it leaks out of the needle she has a more dramatic reaction because of irritated cells in her skin.

This is what the needles look like out of the package. A clip holds the tabs in place, and a tube covers the needle.

Fiona knows what's about to happen. She's pretty worried.

This is the needle uncovered. I wasn't touching it, we have to be really careful to keep everything clean.

I pinch her skin and stick the needle in, then I hold it down and cover it with window dressing.

Sometimes she reacts to the numbing cream. This is her belly, the cream worked on the left and caused a reaction on the right.

Just after I stuck her legs. She was saying "smile" for the camera while she was crying.

She managed a smile after I stuck her belly.

All 4 needles in and taped down.

I unscrew the plunger of the syringe.

Then attach it to the pump. It twists on.

Turning on the pump, then I have to prime the pump until the plunger touches the bottom of the syringe.

Her leg 15 minutes after treatment started. Her skin turns red and swells at her infusion sites.

This is her belly 15 minutes later.

Once treatment is started she feels a little better.

DNA testing

This week I've been researching DNA testing. We think our best chance of finding the cause of Fiona's immune deficiency is to test all of her genes. There are many kinds of genetic tests. Most genetic tests only look at one or two genes. We've already tested for the common and uncommon genetic immune deficiencies. Some samples from our last round of genetic testing were so uncommon that they were sent to research labs.

The two genetic tests that our doctors have mentioned are whole exome sequencing, and whole genome sequencing. Whole exome sequencing only looks at the coding portion of the genome, which is about 3%, but contains most of the errors that lead to genetic disorders. Whole exome sequencing costs much less, around $1,000. Whole genome sequencing looks at everything. The first whole genome sequence was almost $3 billion dollars. In 2001 it cost $100 million dollars to sequence an entire genome. At the beginning of 2014 the cost of genome sequencing is about $6,000. There is talk that in the next few years it will be about $1,000.

In addition to testing Fiona's genes, they will be testing our genes, and possibly some of our other kids. My understanding is that this will help them interpret what they find in Fiona's genes. Our hope is that if they find the cause of Fiona's immune deficiency they will have better treatments. What it always boils down to is that we feel like a bone marrow transplant is a cure, but how do we get there?

Familiar supplies

We like to try different supplies to see if they improve Fiona's treatment. Sometimes they help, sometimes they don't. For about 2 months we tried high flow needles. They didn't help. For Fiona they caused a lot of pain. Now we're back to the needles we started with. Yesterday's treatment was so much better. Other than the initial needle sticks she didn't complain at all, her infusion sites didn't leak medicine out, and she could move during treatment. I feel much better about treatments when they don't make her upset.