function

About a year ago Fiona's t cell function dropped. We just got her antigen test back. Her pha stimulation result is 5682, normal is >=135190. That means that when her t cells are stimulated with a chemical called phytohaemagglutinin, they don't respond properly. Her Candida and tetanus responses are low too.

She is over RSV, which is amazing. I was worried about her cough, then it was gone. Igg replacement is working. Now if they could figure out a way to fix her t cells she would be in great shape.

Our best Christmas gift!

We just got the news that our insurance approved genetic testing for Fiona!

Cincinnati visit

Fiona's nasal swab came back, she has RSV. So far it's just a wet, barky cough and runny nose. Her t-cells are all the lowest we've seen, probably due to the virus lowering her immune system. In an effort to protect her from other infections while her immune system is low we are keeping her in full isolation. Because of Fiona's immune deficiency she may be contagious longer than normal, according to the CDC, up to 4 weeks.

We learned about a researcher in Canada who is working on injecting bone marrow into immune deficient mice. If they injected Fiona's bone marrow into the mouse and it grew normal t-cells then they would know that her thymus is the problem. If it didn't grow t-cells they would know that her bone marrow is the problem. Is it weird that I really, really want a lab, and an immune deficient mouse?

Our doctor consulted with European doctors about Fiona at a conference recently. They agree that because she isn't extremely sick, she doesn't have auto immunity, and her counts and function are okay, that we should take a wait and see approach. As a parent, wait and see stinks! We really want to fix this for her.

Sick again

Before we found out about Fiona's immune deficiency I took her places. Every time we went to the store she got sick. I kept her home when she was sick, but once she got better I took her out again. She had a string of viruses that she picked up from shopping carts, and sick shoppers. I thought something was wrong, but didn't know what it was. The year before she was diagnosed she was sick from Fall to Spring.

I'm starting to feel like it's happening again. Every time we take her out she gets sick. It's funny, because we take her out so infrequently I know where she picks up every virus. This one came from Michael's. We took the kids out to pick up some supplies for a project Savannah had at school. We went late to avoid crowds. We were the only family in the store. I wiped the shopping cart with a disinfectant wipe. We did everything short of making her wear a mask and gloves.

I hate how many experiences she misses. In January she moves up to Sunbeams at church. She won't know. She had a month of nursery before we found out she couldn't go back. Most of my kids started preschool at 3. She won't. Even with her infusions it's not safe. We took her our church Christmas party last weekend. One of the hardest things for us as her parents is weighing social development with safety.

Normally when she gets sick I worry, then call all of her doctors, then have them run labs. I'm trying to take a wait and see approach this time. We are going to Cincinnati on Wednesday, so I'll have them check for viruses then.

We are still waiting to hear back from our insurance company about our appeal for her genetic testing. It's a test they shouldn't have denied. I feel like they're hoping that we'll just give up.

quick update

Fiona is over her cold. She had parainfluenza 3. It causes croup. We bumped her hizentra up a gram, hopefully she'll be protected a little better for the winter.

I think we'll get the hizentra copay assistance. That means they will pay up to $4,000 of the copay for Fiona's medicine. Last year we paid $2,700 every month for her treatments. I'm not sure what the copay will be in January. I'm trying to time everything so her medicine will be the first insurance claim. I'm hoping to use all of the copay assistance.

Fiona's treatments are still going well. I had to hold her down a little more than normal last week. Trying to poke a wiggly 3 year old is challenging. She is fine after the needles go in, but we are seeing more anxiety again.

Fiona goes back to Cincinnati in two weeks. Our insurance company denied exome testing saying that they needed more information, and they won't pay for the test unless the results will change her treatment. Our team from Cincinnati wrote them an awesome letter about why they should pay for it. Now we wait for an answer.

Fiona's cape

A few months ago I requested a cape for Fiona from Capes4Heroes. Her cape arrived a few weeks ago, but with all of our crazy I'm just getting pictures posted. Fiona loves her cape. It's beautiful green satin, with flannel inside. A huge thanks to Capes4Heroes, and a generous sponsor!

sick girl

Poor sick girl. We went to the doctor on Thursday, and the ER on Friday. She's had a steroid and an antibiotic. They did labs and a chest xray. One of the fun things about an immune deficiency is that they do a viral test when she gets a cold. It's not all that helpful to know what the virus is, but it's interesting to find out.

I got some of her labs back today. Her white cells are normal, which is high for her. Her lymphocyte count is 1.0 (some labs will list it as 1,000), but the result came from a different lab than we usually use, so I'm not sure how to interpret it. Her IGG is down 350 from September's labs. With replacement she's at a normal level still, but I think we want to see it higher.

We should know more about how she's recovering tomorrow when the steroid has worn off. Today she's congested, has a fever, is cranky, and sleepy. She's loosing her voice, and probably has a sore throat. This is what we dread. There's no way of knowing if a minor illness will hit her hard, or if her replacement antibodies will help her fight it.

Being on an antibiotic has 2 disadvantages. They didn't see a clear source of bacterial infection, so the antibiotic may not help. It may increase her risk of developing an antibiotic resistant infection. It also puts her at risk of getting thrush, or yeast. Because of her low resistance the yeast is more likely to become systemic, which means a few months of diflucan.

Halloween

Fiona is trying to decide what to be for Halloween. She was going to be a blue princess, then a green robot, then a blue robot. We'll see.

This has been a crazy week. I had surgery to take out some scar tissue and adhesions. Fiona has been a trooper. We hang out and watch cartoons, take naps and read books.

Her treatments keep getting better. Last week we used 3 sites, and she still did really well. She has a little rash around her nose that I'm keeping an eye on. Other than the rash she's still healthy. At her checkup on Monday the doctor said she looks great. She's growing really well.

another great treatment

Today's treatment was great. She was watching Dora on the kindle and didn't even notice when I poked her. She was really interested in seeing what the tubes that are left behind after we pull out the needles looked like. She said, "They're soft."

We still don't have all of our results back from Cincinnati yet. Usually we see them all within 2 weeks. I'm going to call this week to get the rest.

Fiona is doing really well. She's not sick, which is a huge blessing. We are isolating again. With the weather turning colder, cold and flu season will be starting. It's been almost a year since she last in the hospital.

We are applying for the Hizentra copay program, which will pay for up to $4,000 of Fiona's treatments. It will be amazing if it works out. That's half of our out of pocket for 2015!

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.

updates

Fiona's antibiotic is still backordered with intermittent supply. We were able to get a bottle last week. It's a different formula than we've had before and she hates it. She got used to the thin grape liquid, now it's a thick cherry liquid. I mix it with an equal amount of water before I give it to her or she won't drink it.

She seems to be doing better this week. We reduced her Hizentra dose by a gram. I'm worried about what that will do to her IGG level, but I'm glad she feels better. She's sleeping better too, which helps us both.

I'm starting to really feel like now is the time to figure out if she would benefit from a bone marrow transplant. If the problem is in her bone marrow then it would fix her problem. If the problem is in her thymus then a bone marrow transplant won't help. Her thymus appeared normal on a CT scan. I'm going to ask for a thymus biopsy to rule out a problem with her thymus. It's so frustrating to know something is wrong and not have any answer or solution.

no antibiotics

Our pharmacy wasn't able to get Fiona's antibiotic. According to the FDA it was supposed to be available after the 1st week of August. We don't know when it will be available again.

My kindle is working again! Fiona couldn't be more thrilled. I had to restore it to the factory settings, so I lost everything saved on it, but I'm happy that it's working in time for her next treatment. It's a great distraction tool.

We are giving Fiona ibuprofen to see if it helps calm the fi-beast. She seems to be doing better this morning. We're also dropping her dose of hizentra by 1 gram. Lowering her dose is scary, but it will let us see if she gets sick. She just fell asleep in my lap, so I think she's feeling a little better.

Fi Beast

Every few months Fiona has a treatment or set of treatments that don't agree with her. The past two treatments haven't agreed with her. She is really wild, restless and cranky, which we attribute to a bad headache. We are giving her tylenol and benadryl, but they aren't really helping. Anything that doesn't go her way causes an unpleasant screaming episode. Parenting a sick kid is hard, and primary immune deficiencies suck, especially for the patient. In the past we've discussed the possibility of aseptic meningitis, or serum sickness.

Today during treatment my kindle, which is a great distraction tool for Fiona stopped working properly. I called Amazon, and they suggested resetting it to factory defaults. It had to charge in order to reset, so I'm keeping my fingers crossed that it works. It's past the warranty so they offered me a discount to replace it. We can't afford to replace it, even with the discount.

antibiotic update

The company that manufactures Fiona's antibiotic now has an intermittent supply, which is much better than no supply. Our pharmacy is ordering it for us. She hates the compounded liquid that our pharmacy made for her. I'm sure it isn't yummy. Hopefully we will be able to get some for next weekend.

This afternoon she'll have her weekly treatment. We read a story last night about what her treatment does for her. She's been exploring her medical supplies. She loves bandaids in every form. I caught her putting a big clear IV patch on her tummy last night. She said it made her feel better.

For anyone who wants to do something to help us and can't donate to the fundraiser, please donate blood or plasma. They'll pay you to donate plasma. We are always concerned when they talk about shortages at blood banks, because eventually they will affect us.

Lots of people are concerned about the outbreak of Ebola reaching our country. I read an article last week that mentioned that the Americans who returned with Ebola were given an experimental treatment involving antibodies from mice exposed to parts of the Ebola virus. The reason this makes sense as a treatment is that once antibodies are exposed to a virus, they remember how to fight the virus. This is called adaptive immunity. Adaptive immunity is the reason that vaccines work. Fiona's body doesn't produce enough antibodies to fight infections. It makes me wonder if they took the igg from a patient who recovered from Ebola if it would be a better treatment?

new needles

Before Fiona's treatment on Monday she had her igg tested. The doctor wanted to see what her low number, which they call a trough was. Her trough igg is 714, which is good, but much lower than I thought it would be. When they drew labs in Cincinnati her igg was 924, two days after her treatment. Giving her subcutaneous treatments is supposed to keep her levels more even. A fall of 310 seems uneven to me.

We got Fiona's new needles and I used them for the first time on Monday. I'll take some pictures, they are pretty amazing. The metal needle pulls out and leaves a flexible tube. She was much more comfortable, and was able to move with no pain. I hit a blood vessel on one of her sites. It didn't bleed when I pulled back on the syringe, but later there was blood in the tube. She has a bruise now.

This week our older kids went back to school. This week has been crazy, but is starting to settle down. Fiona has been a ball of energy every day. I think she is reacting to the batch of hizentra she got on Monday. She's being super naughty. I've started making sure she's in the same room I am so I can keep an eye on her.

going to a doctor?

Every time we walk into an office building Fiona asks if we are going to a doctor. Today we walked into a building with big glass doors and she asked if it was a hospital.

Her t-cell function tests are back. They aren't horrible, but they aren't great. Her resistance to candida (yeast) is pretty low again. Her resistance to tetanus is low too. Her t-cell stimulation tests are normal. I think I'm seeing a pattern of low t-cells and high stimulation, and improved, but still low t-cells and low stimulation. I'm making a graph to see if I'm right.

We got our package from BioRx today, and it has the needles I want to try. I'm a little nervous to try them the first time, so I've been watching youtube videos. It looks pretty easy.

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.

Potty training

I'm glad to say that Fiona is potty trained! No more diapers, very few accidents, and she's done! I have to give credit to Daniel Tiger for his song about potty training. "Stop and go right away," is what she tells us when she needs to go to the potty.

New fundraiser

My sweet friend Julia and her kind neighbor Dan came over a few weeks ago to take pictures and video for a fundraiser Julia is setting up for Fiona. We are so thankful for them and their efforts to help us. We are overwhelmed with the cost of medical bills, trips to Cincinnati, and the things we need to keep Fiona healthy. We have tried for the past few months to put the maximum amount of money into our health savings account to pay for Fiona's care. We could just manage it until we had to repair our sewer line. Every donation goes directly to pay for Fiona's care. We are hoping to raise enough to take care of a mold problem in our kitchen, pay for this year's medical bills, and keep enough to pay for next year's insurance out of pocket. Please donate if you can, and share her fundraiser.

water

Water is a funny thing to write about. When there is a problem with the water supply it's usually found when someone gets sick. After someone gets sick and they can trace it to the water supply, then the problem is fixed. This means that if Fiona drinks tap water she may be exposed to bacteria and viruses that may be life threatening. Because of this we buy distilled water at the grocery store. Every week we haul home 10 gallons of water. That's 520 gallons each year. We also buy 2 cases of bottled purified water every week. The cost of drinking water each year is over $700. We all drink distilled or purified water, because if one of us gets sick there is a chance that we could make Fiona sick. Someday we hope to get a reverse osmosis system for our house. We had one in the past, but it leaked so much it caused a huge mold problem under our kitchen sink. I would like to get a new reverse osmosis system so we don't have to haul water and it would be less expensive than buying bottled water. Coming up with the money has been a challenge. Every time I think we have saved enough something else breaks. Today I prayed for a break in our trials so we can breathe for a little while, and have some peaceful time to recover from the past few years.

The zoo!

We took Fiona to the zoo yesterday. It was so much fun. For about an hour before we left she told us that she was so excited to go to the zoo. We only stayed for an hour and a half, because she doesn't do well in heat, and she can't be in the sun too long. We took the stroller so we didn't wear her out and covered her in sunscreen. We used a lot of hand sanitizer. Fiona loved the animals. She said the giraffes were her favorite. She tried to climb the fence to get to the lemurs. She told us that she needed to walk on their grass. There was a baby lemur who was hanging on a swing, and Fiona yelled, "don't worry! I'm coming. I'll save you." She loves Diego, and thinks that all baby animals need to be saved. When we got to the elephants she told us, "that's my elephant. I ride it." I think she was disappointed that she couldn't get to the animals. She loved yelling, "hear me?" to every animal we saw.

Fiona is doing really well. She's healthy and growing. In July when we go to Cincinnati they'll collect DNA samples from Fiona, Christian and me. They'll store them to see if our insurance will approve genetic testing.

STK4 gene test is back

Each of us has 2 copies of every gene. One comes from mom, the other comes from dad. Fiona has a mutation on one copy, but not on the other. What does that mean? I don't know. Her mutation is different from the others they've seen. We go back to Cincinnati in the middle of July. I'm going to see if we can talk to the doctor before then.

Fiona is doing really well. She's healthy, her thrush is gone. She finished Diflucan last week, so I'm checking her mouth every day. She is potty training, and I'm thankful for our carpet cleaner! :)

more test results

Fiona's helper t-cells are really low again. Normal range is 500-2400, her level is 139. Low helper cells explain the thrush. There are still lots of tests we're waiting for. The good news of the day is that her IGG level is 1030, well within normal range. That means her treatments are working, and giving her protection. I'll keep posting as her test results come back.

Possible genetic cause

Fiona had an appointment in Cincinnati today. They've found a gene mutation on the STK4 gene. We don't know if it is manifesting or not. They need to do more tests to see if it is causing her immune deficiency. Her mutation is one that hasn't been described before, she may be the first person to have it. I'll write more later as the tests come back. Our doctor cautioned us not to get our hopes up because they haven't finished all of the testing.

appointments

Fiona has an appointment with our local doctor tomorrow. A week from tomorrow we go to Cincinnati. I'm not sure what they will say about her thrush. I've decided to take away her binky. Even though we replaced them after she got over thrush last time, I'm worried that they still may be "infected".

A long overdue update

I just realized that it's been almost a month since I've written anything. Over the past month we've been exposing Fiona to the world. I take her to grocery stores, church, and to pick James up from preschool. We've talked about the children's museum and the zoo, but I'm not quite ready yet. Every exposure causes me to worry.

This week Fiona got thrush again. It was about a month ago that she had it the first time, twice in four and a half weeks. I stopped giving her amoxicillin after she got over her last case of thrush. She's on diflucan again. When I called they said that her doctor in Cincinnati may want to see her again. Our next appointment is in July. I'm not sure what this means yet. I'm expecting a call this afternoon.

A new test result came back. It was normal. She doesn't have hyper IGM syndrome. Hopefully someday a test will show us what she has.

Treatments have been going pretty well. Three weeks ago I decided to try a treatment without anti-anxiety meds. I gave her benadryl, tylenol, and numbing cream. She did really well. Two weeks ago I tried the same meds and her treatment was awful. She cried through most of it. Yesterday we switched from three needle sites to four, and we increased her infusion time from an hour and a half to two hours. It made a big difference. She was calm during the whole treatment.

She has developed diarrhea again. I'm going to ask for a stool culture again. Hopefully it's still the same viruses that she had before. We know that they may take some time to go away. She's also running low grade fevers, around 100 degrees.

having a life...

Yesterday our transplant coordinator said that somehow Fiona needs to have a life. She needs to get out. He said he thinks that we can take her to the zoo. Once it warms up a little we can take her outside, before 10am, and after 4pm (she can't be in the sun too much because of her antibiotic). Trying to protect a 2 year old from the world is a hard thing. She just wants to run and play. I just want to keep her healthy.

She looks good

We saw our local doctor today. He said she looks good. Of course she was running around his office climbing on everything. I forgot to ask about the zoo.

One of Fiona's labs came back showing that she has no resistance to tetanus. The actual number was 80, they want it to be over 4761. Her response to yeast was about a tenth of what it should be.

I keep having this feeling that she's about to get sicker. I'm not sure if it's just one of those funny feelings, or a real thing.

ER visit

Fiona had a fever this afternoon, so we went to the ER to get checked. Her white blood cells are high (for her), and they are culturing her blood to see if anything grows. They gave her rocephin, an antibiotic, and sent us home. Hurray!!!

One of the problems we have is in getting an accurate temperature. Her axillary temperature is always low, around 97, even when she has a fever. Because of risk of infection we can't take a rectal temperature. Ear thermometers are inaccurate. We have a temporal artery thermometer at home, but they don't have them in the hospital. She bites on oral thermometers, and won't let us put one under her tongue. I wonder if I take our thermometer to the hospital next time if they will let us use it?

Her thrush seems to be gone. We follow up with our local doctor tomorrow, and hopefully she will be able to stop taking diflucan, which is giving her horrible diarrhea.

Poor kid

What happens when you have two stomach viruses and take diflucan? You don't want to know. It was bad. Fiona had to have a bath. She has a really bad diaper rash, but at least it won't have yeast on it.

Fiona's mouth looks much better after 2 days of diflucan. She is eating a little more, but is still having trouble drinking. We have been able to avoid dehydration. I'm glad she's going to see a doctor tomorrow.

Today is treatment day, and I'm beyond excited to have supplies from BioRx again. Our rep found the tape we love, which is nice, because I've been buying it for $8 a roll. She also sent us barrier skin wipes, which aren't quite as sticky as the ones I found at Walgreens. This week we are trying a high flow needle set. I've heard that some people don't like them, but I'm trying to keep an open mind.

Fiona is feeling restless lately. After her brief taste of freedom she tries to escape the house every time the door opens. She cries when we drop James off at preschool. She wants to go to. I am grieving for her lost experiences. She'll never go to preschool, or nursery at church. I'm not sure she'll ever go to school. I'm going to ask the doctor tomorrow if it is safe for her to go to the zoo. She really loves animals, and this may be a good way to get her out of the house. We'll go when it's not crowded, keep her in her stroller, and not take her into any of the buildings.

Today

After talking to our local doctor's office and Cincinnati the plan is to switch Fiona to diflucan, which is a systemic antifungal. She has an appointment with our local doctor on Monday. Hopefully her thrush will clear up over the weekend.

I'm still trying to understand whether or not her stomach viruses are contagious. We don't know how long it will take for her body to clear the viruses. I read a journal article yesterday that said the mean time frame for someone with a compromised immune system to clear norovirus is 3 months. Ugh! I'm not comfortable taking her anywhere because I don't want her spreading a virus, and because the virus may be weakening her immune system.

Today we got our first box of hizentra and supplies from our old specialty pharmacy since January! They were able to find the tape we love, 3M kind tape, and skin barrier wipes. We are back to using 2 bottles for each infusion, instead of 5.

It's easy to forget that there is anything wrong when Fiona is healthy, but when she gets sick, she really gets sick. Hopefully it won't take 3 months for her to get better.

thrush still

Fiona still has thrush. The thrush on her bottom lip is almost gone, but her top lip still has white patches. I'm not sure how long it takes for nystatin to work. I've called our local doctor to have her checked. I wonder if she needs something stronger because of her low t-cells?

isolation or exposure

In the past we've talked about whether or not we should keep Fiona isolated. It seems like most exposure leads to one or more viruses. As a parent my first instinct is to protect her from the outside world. Last winter she was healthy. Once we started exposing her she was sick. It seems like an easy choice not to expose her. We'll be talking to her doctors about continuing isolation.

When she gets sick her responses are strange. I know this sounds funny, but she has norovirus and adenovirus, and she isn't throwing up. In fact we only found it because I told the doctor she had diarrhea, and she was complaining of stomach pain. I almost didn't tell him about the diarrhea, because it wasn't that bad. It seems like she should be sicker, which makes me wonder if her immune system isn't responding to illness?

skin barrier wipes

During yesterday's treatment we tried a new product called a skin barrier wipe. After I stuck her I wiped it on the skin around the butterfly of the needle. It's really messy, sticky stuff. Once it dried I put on her clear bandage and continued with her treatment. Peeling off the clear bandage was much easier than without the skin barrier, and less irritating to her skin. In the future I'll look for water soluble skin barrier wipes, the ones I used left a mess on my fingers, and could only be cleaned with alcohol. Another solution would be to wear gloves when handling the wipes. I found these at Walgreens. They were about $15 for 50 wipes, and I use three wipes for each treatment. I'm going to ask our specialty pharmacy to see if they can get them for me.

thrush

Fiona has thrush. I knew this was a risk because she's on an antibiotic, and her resistance to candida (the fungus that causes thrush and yeast infections) is reduced by her immune deficiency. In fact I'm surprised that it didn't happen sooner. I called Cincinnati and they are sending in a prescription for nystatin. If that doesn't work they'll give her something stronger. We also have to boil her pacifiers then replace them once the thrush is gone. I'm pretty sure we'll have to do the same with her sippy cups.

good news

Fiona's blood test came back negative for adenovirus. If we can keep her hydrated we'll avoid the hospital. For a sick kid she's got plenty of energy.

viruses

Fiona tested positive for two viruses, adenovirus and norovirus. She doesn't seem to ever get just one thing. She's had some diarrhea and stomach pain in the past few days, so they tested a stool sample yesterday. They did the same test in January, and everything was negative. When they ordered these tests I expected the same results. A new strain of norovirus is going around, and no one in the country is immune to it, so I wasn't surprised that she had it. Adenovirus is more troubling. I'll feel better when the blood test comes back.

The plan is to watch and wait. Her igg is down a little from the last test, but it's still good, over 900. We aren't going to lower her dose of hizentra as previously planned. We have to make sure she is hydrated. They are testing to see if she has adenovirus in her blood, which would change treatment to an aggressive IV medicine in the hospital. We don't know how long she will be infected. From now on when she goes to Cincinnati she will be put in isolation to prevent other patients from being infected.

We are going to put her back in isolation. We were cautiously exposing her to the world. Maybe that wasn't such a great idea. Last week I was walking through the grocery store and I had a feeling that I should restock my hospital travel bag, because she was going to get sick. I picked up some small toiletries, and really didn't think of it again until this morning when the test results came back. Christian joked that he's going to start calling me Moses.

We don't have any idea how she will respond to these viruses. We don't know how long she'll be infected or contagious. I feel a little helpless. For me that's the hardest part.

Cincinnati yesterday, local doctor today

We went to Cincinnati yesterday. We had a great conversation with Fiona's doctor. I think Christian understands the way a thymus works, and how that impacts a bone marrow transplant. There are some things a transplant won't fix, things that are structurally wrong with the thymus wouldn't be cured. Fiona is a strange case. Most kids with her symptoms are more easily diagnosed with standard lab testing.

Because of Fiona's recent crankiness post treatment, we are reducing her dose of hizentra (igg) by 1 gram. We raised the dose during flu season to better protect her from illness. Now that flu season is over we are hoping that the lower dose will help turn our beast back into a princess.

This weekend Fiona started complaining of stomach pain. She would stop playing, start crying, and say "ow ow ow". They are testing to see if she has any intestinal infections, markers for inflammation, or parasites. If they don't find anything we will probably do some scopes to take a look at her belly.

We have some labs back from her visit yesterday. There are some changes that I'm going to ask about. On her CBC they noted microcytes, which are smaller than normal red blood cells. Microcytes can signal anemia. Her lymphocytes (combined antibodies and t-cells) are lower than we've ever seen them. I'll be interested to see what her t-cell counts are. Her neutrophil count is going down too, which can be a side effect of Bactrim, the antibiotic she takes on weekends.

Today we go back to our local doctor, an infectious disease specialist. I like that we have two doctors who understand her issues so well. When something goes wrong we have two doctors working to figure it out.

treatment, and plumbing update

Fiona has been having a difficult time with infusion day. She does great with the treatment. About two hours later our lovely princess turns into a beast. The crankiness continues on Monday and has usually resolved by Tuesday, but not this week. She's also complaining of pain under her ribs on the right side. I think I may take her to be seen this afternoon.

Our adjuster came and looked at the damage yesterday. They are replacing the carpet in our dining room and living room. They are also replacing the linoleum in the bathroom, hall and kitchen. That's 2/3 of the flooring downstairs!

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.

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.

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.

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.

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.

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.

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.