Friday, November 20, 2015


Fiona continues to be mysterious. She had labs drawn this week. Her helper t-cell count is 1306!!!! That's normal. The mystery is how did it go away? Her low numbers were worse than AIDS. T-cell deficiencies don't just go away.

Her immunoglobulins are also normal. Her igg dropped from 2056 in July to 821 this week. I'm concerned that it's still going down. We don't know if she's making her own igg, or if her dose was too high. For now we are just watching and waiting. She's developed some nasal congestion today. This is the first time she's been sick in a long time.

I've loved not giving her treatments for the past 2 months. I'm trying to get used to her new normal, which is normal.

Monday, October 19, 2015

new labs

We have the results from Fiona's labs on 10/12. Her igg was 1048. In August her igg  was 1963, then we skipped a few treatments, and September was 1500. It looks like her igg level is going down 500 every month.

The big question is, what will happen next month? We don't know what her body is making, and we don't know what her bottom level will be. If she gets down to 600 they'll put her back on treatments. I'm a little worried that her levels will be low going into cold and flu season. My hope is that if her igg gets low, her t-cells will stay normal. We'll see.

Our mysterious girl loves being outside. She loves swinging in the back yard. She loves dinosaurs, Dora, and Daniel Tiger. She's learning letters and tries to spell. She's starting to recognize numbers. She wants to sew (that's what she calls knitting). When she's really insistent I let her hold the knitting needles while I knit. She loves meeting people in doctor's offices. We were in the waiting room last week, and she was handing out magazines to everyone who came in. Later I was holding her so she wouldn't bother anyone. She really wanted to get down and run around. When I asked why she said, "I need to go see that big fella over there."

Wednesday, September 30, 2015

Fiona's labs

Fiona's latest labs are mostly normal. Her IGA and IGM are normal. Her IGG is high, which could mean that she's making her own, or that she's not metabolizing it as fast. All of her t-cells are in normal ranges. Her t-cells are responding well to stimulation, except for tetanus, which is about 1/4 of low normal. There are some other labs that are off, but I'm not sure about what they mean.

So you may be thinking this is great news. I should be excited, but I'm not really feeling it. I'm actually a little more uneasy and worried. Kids don't really outgrow this kind of immune deficiency, and some of the cells she's making aren't working well. If everything looked normal I think I would be more hopeful. It feels like her version of normal has changed.

In July her IGG was 2000, August was 1900, and we skipped a few infusions between then and September, when it was 1500. High normal IGG is 1200. I don't know if her IGG went down because she was getting too much, or if she was making more of it, and now she's not making enough. We've skipped a few weeks of infusions, and will be rechecking in two weeks when she has her antibiotic infusion.

She's been healthy for a few months. She's growing well. She's been going to primary, and she loves it! Last week was the primary program at church. She got up to the microphone and started telling a story about a storm with thunder and electricity. She ended with everyone is not doomed. She's been pretending to be a snake, or a mama pteranodon. Her babies, Tiny, Shiny, and Don are always hungry for meat, usually ostrich or pig meat.

Sunday, September 6, 2015

confusing kid

I just realized how long it's been since my last post. We've had some labs drawn in the past few months that have been unusual for Fi. Everything that is usually low was high, lymphocytes, iga, igm, all normal, igg, high. In the two years that we've been watching her that's never happened. We are going to Cincinnati this month to have labs drawn to make sure there wasn't a lab error, and they'll do a bunch of labs that we haven't checked in a few months.

As much as I want to think that her immune deficiency is gone, I don't think it is. She has thrush. I found it this morning at church. She had patchy transparent white spots on her bottom lip. I just checked her again at bedtime. The spots on her lip are bigger, and less transparent. Now there are spots on her cheeks and in the back of her throat. In the past her response to thrush wasn't great, then it was, then it wasn't. Thrush in a three year old is unusual, and mostly seen in kids with t-cell deficiencies.

Friday, August 14, 2015

genetic test results

Fiona's whole exome sequencing came back today. They didn't find anything. Does that mean her deficiency is not a genetic mutation? Nope, it's most likely a genetic mutation they haven't seen before, or it isn't manifested in the exome (more below). I'm not really surprised, because she is so unique, even among rare disorders. They say that 1 in 3 kids gets a result from the test. I'm still waiting for a copy of the test. I really wanted them to find something. Not having a diagnosis is hard.

Fiona didn't get sick at all this summer. We sent her to primary last Sunday for the first time. She loved it. I think we'll keep sending her unless she gets sick. Being around other kids is a good test for her immune system.

Her arm healed really well. She was casted for about 7 weeks. When we were on the Vineyard we took her to the beach. When they took the cast off she had some sand in it. The sand got stuck in her skin, and we had to pick it out. She still thinks there is sand in her skin.

I feel like genetic testing was our last real hope for a diagnosis. Until research catches up I don't think we'll know what Fiona has. I'm curious to know what this means for her future treatment. Unknown combined immune deficiencies are treated with a watch and see approach. Which means that we wait to see if she gets sick before we transplant.

I've copied some information about why whole exome sequencing didn't find her mutation below. Feel free to stop reading, some if it is pretty technical.

The 10 Exceptions
Understanding the limitations of exome sequencing is important because it’s already here. "Be one of the first to get your personal exome sequence," proclaims 23andMe, about its pilot Exome80x project, offered direct-to-consumer, "for research and educational use only."
The first CLIA-certified test, Clinical Diagnostic ExomeTM, became available from Ambry Genetics earlier this year. A news release announcing the diagnosis of three tough cases calls the technology "essentially a human genome project for an individual patient." Said CEO Charles Dunlop, "Some of these families have been trying to figure out what was ailing their children for years, and we solved the riddle in weeks."
But exome sequencing won’t help every family, and here’s my list of reasons why. The technology won’t detect:
1. Genes in all exons. A few exons, such as those buried in stretches of repeats out towards the chromosome tips, aren’t part of exome sequencing chips.
2. Mutations in the handful of genes that reside in mitochondria, rather than in the nucleus.
3. "Structural variants," such as translocations and inversions, that move or flip DNA but don’t alter the base sequence (detectable other ways).
4. Triplet repeat disorders, such as Huntington’s disease and fragile X syndrome. Their mutations don’t change the DNA base sequence – they expand what’s already there.
5. Other copy number variants will remain beneath the radar, for they too don’t change the sequence, but can increase disease risk.
6. Genes in introns. A mutation that jettisons a base in an intron can have dire consequences: inserting intron sequences into the protein, or obliterating the careful stitching together of exons, dropping gene sections. For example, a mutation in the apoE4 gene, associated with Alzheimer’s disease risk, puts part of an intron into the protein.
7. "Uniparental disomy." Two mutations from one parent, rather than one from each, appear the same in an exome screen: the kid has two mutations. But whether mutations come from only mom, only dad, or one from each has different consequences for risk to future siblings. In fact, a case of UPD reported in 1988 led to discovery of the cystic fibrosis gene.
8. Control sequences. Much of the human genome tells the exome what to do, like a gigantic instruction manual for a tiny but vital device. For example, mutations in microRNAs cause cancer by silencing various genes, but the DNA that encodes about half of the 1,000 or so microRNAs is intronic – and therefore not on exome chips.
9. Gene-gene (epistatic) interactions. One gene affecting the expression of another can explain why siblings with the same single-gene disease suffer to a different extent. For example, a child with severe spinal muscular atrophy, in which an abnormal protein shortens axons of motor neurons, may have a brother who also inherits SMA but has a milder case thanks to a variant of a second gene that extends axons. Computational tools will need to sort out networks of interacting genes revealed in exome sequencing.
10. Epigenetic changes. Environmental factors can place shielding methyl groups directly onto DNA, blocking expression of certain genes. Starvation during the "Dutch Hunger Winter" of 1945, for example, is associated with schizophrenia in those who were fetuses at the time, due to methylation of certain genes. Exome sequencing picks up DNA sequences – not gene expression.


Sunday, June 21, 2015

broken arm

Last Friday we went to the movies for date night. During the previews Katherine started calling me. I thought that was strange, so I walked out of the theater and called her back. She told me that Fiona jumped off the couch and broke her arm. I asked how she knew it was broken, and she told me that her arm wasn't straight. I could hear Fiona screaming in the background. I went back and got Christian. We went home and took her to the hospital. They tried to start an IV for pain meds, but her veins kept blowing. They only had 1 arm to work with, so they decided to stop trying. Have I mentioned that as much as a port scares me, I would love it if every vein access was easy? The doctor came in and splinted her arm so they could xray it. Her radius was completely broken, and needed to be set. They gave her some medicine for conscious sedation. and sent us to the waiting room. It bothers me that they didn't try harder to give her something for the pain. When we got back her eyes were red like she had been crying. She got a pink cast from just below her shoulder to the end of her hand. She can still use her  her fingers. She wasn't quite awake, but she kept sticking her tongue out. When she woke up she was so funny! She thought we were in space. She wanted to see a meteor. When we sat her up she told us that she felt dizzy. When we were getting her ready to leave she said something about being back on Earth. She is doing really well. We take her back next week to have her arm xrayed again. In 4 weeks she'll get a shorter waterproof cast.
This week is the Immune Deficiency Foundation conference. I'm really looking forward to it!

Tuesday, June 16, 2015

more test results

Fiona's gastroenterologist had to go over the slides from her biopsies with the pathologist to interpret the results of her tests. They've diagnosed her with duodenitis, which is inflammation of the duodenum, which is the first part of the intestine. No big surprises. They are going to start watching her for celiac disease. The hard part about testing her for celiac is that most tests use IGA to test. Because she is IGA deficient, the blood tests won't work.

Tuesday, May 26, 2015

tests results

We got some of Fiona's test results back this morning. They were from the biopsies they took during her endoscopy and colonoscopy. I'm not really sure what the clinical significance is. Everything looks normal, except, "Mild increase in villi intraepithelial lymphocytes, patchy." Intraepithelial lymphocytes are just white blood cells in the gastrointestinal tract. The increase shows inflammation. The report also mentions some, "mild villous blunting overlying prominent Brunner's gland." My first reaction was that villous blunting is from celiac disease, but after some reading it can be caused by an immune deficiency. Hopefully we will hear back from her doctor soon.

We're not sure if Fiona is sick or if she has some allergies starting. She has a really productive runny nose, and a cough without a fever. I'm keeping an eye on her just in case.

Saturday, May 16, 2015

Cincinnati yesterday

Fiona had her tests done in Cincinnati yesterday. Everything went well. Her gastroenterologist said that everything looks normal and healthy. They took some biopsies, which should have results in a week. Her pancreatic function test will take a little longer. She was cranky when she woke up, but recovered quickly. We left the hospital just before noon. She's doing fine today.

Monday, May 11, 2015


Fiona is having some urinary tract infection symptoms. We're going to the doctor this afternoon. She's also having loose stools. TMI? probably. She seems to get groups of infections. I'm looking forward to the results from her procedures on Friday.

Thursday, May 7, 2015


Fiona is scheduled for an endoscopy, colonoscopy, and pancreatic function test on May 15th. The prep for the procedures sounds pretty miserable. The day before her surgery she has to stop eating at 1 pm. After that just clear liquids with miralax for four hours, then just clear liquids. I can't imagine that will be pleasant for either of us. I'm trying to figure out how to keep her from finding snacks, she's a pretty determined kid when she really wants something.

Tuesday, April 28, 2015

Surprise appointment

Yesterday I found out that Fiona could see gastroenterology (belly doctor) today, or we would have to wait until June to get in. I was worried that it would be a short appointment, but I was wrong. I really like the doctor we see. He is very thorough. His nurse is in the room taking notes and ordering tests while he tells us what he wants to do.

Today Fi got an xray, they ordered stool and urine tests, and they're scheduling an endoscopy and a colonoscopy. An endoscope is a camera they feed into her belly through her mouth to look at the stomach and large intestine. A colonoscopy is a camera they use to look at the small intestine. They will be looking for abnormalities, and lymph (fluid with white blood cells, protein, and albumin) leakage into her gut. Her xray results are back, and they look normal.

Fiona has been doing pretty well. Her stools are looser than normal this week. TMI? Probably. She also has some belly cramping. Usually that means she has a stomach virus. Her nasal discharge is thick and green. Usually that means she has a sinus infection, but allergy season is pretty bad this year, so it could be that. We'll see.

Here's what I'm thinking... Lymph is a fluid. It contains lymphocytes (t-cells, b cells, and natural killer (nk)) cells. Her b cell, and nk cell levels are normal. If she's leaking lymph, shouldn't all of her lymphocytes be low?

I bought her a bag of m&m's at the hospital gift shop. After she ate them I asked her what she wanted for lunch. "Candy!" was her reply. Then she fell asleep for most of the ride home.

Friday, April 10, 2015

new tests

Our trip to Cincinnati on Wednesday was an adventure! Just as we were leaving it started to rain, which quickly turned to hail, not the bouncy pea sized fluffy hail I grew up with. This hail was huge, quarter sized chunks of ice. We waited it out for about 40 minutes under the drive through at our favorite Walgreens. We had to go back home to drive some of the older kids to school because they couldn't get to the bus stop. Luckily even though we left 45 minutes late, and we had to drive through heavy rain, we were only 15 minutes late.

At the appointment our doctor talked about how Fiona doesn't present like a typical kid with an immune deficiency. She doesn't get that sick, she's growing well, and her body responds to infections. He thinks she may be losing t-cells in her digestive system, or in her lymphatic system. We're waiting for a call from gastroenterology to schedule a scope of her digestive system, and they want to check the vessels of her lymphatic system for leaks. They will inject dye into her lymphatic system and watch to see if it stays in the vessels. Some of you may remember that we've already tested for lymphocyte loss in her digestive system. The new testing will be more in depth.

The lymphatic system is made of organs, lymph nodes, and lymph ducts, with vessels that run between them like blood vessels, but instead of blood they carry lymph. Lymph is made of lymphocytes (white blood cells), and other fluids, including albumin. Since we've been testing, Fiona's albumin has been low. She's also had a slightly larger than normal belly since just after she was born. It may be that there is extra fluid accumulating in her abdomen. I'm hopeful that this might be the right diagnosis, but I'm trying not to be too invested, because every new test we try comes back normal.

We don't go back to immunology at Cincinnati Children's until July. For our next visit they're going to let us have her labs drawn here, which is good because the lab tech at our local doctor usually doesn't have to stick Fiona more than once. I like seeing her results before her visit, rather than waiting for them and calling the doctor after.

This week Fiona is creating artwork on our new carpet, ugh! Our steam cleaner has been able to remove everything so far, with the added benefit of extra clean carpet for Fiona to play on. I'm working on clearing out the kids outgrown clothes, and figuring out what they need for summer. It was 80 degrees here yesterday, so I better work fast.

Fiona's last antibiotic infusion was great! Only one poke, which surprised the nurses who remembered her from her previous visit. I have a new protocol for IV's and blood draws, we give her as many juice boxes as she'll drink, which add fluid and make her blood vessels bigger.

Tuesday, March 31, 2015

Immune Deficiency Foundation Conference

A few weeks ago I applied for a partial scholarship for the Immune Deficiency Foundation's National Conference in New Orleans. Today I found out that we were awarded the scholarship! It will cover the hotel stay. When I applied I didn't really think about it, I just wanted to make sure that if we wanted to go that we had applied. It would be an amazing opportunity to meet other families, meet doctors, and learn more about Fiona. I'm a little anxious about traveling, and about how to pay for the travel and registration. I'm really hoping we can make it happen. I think we could all use a break after our winter isolation.

In a little over a week we go to Cincinnati. I'm looking forward to hearing what Fiona's doctor is thinking about. Waiting has given me a little too much time to think about it. When Fiona was first diagnosed we went from thinking she just had a typical virus, then hypogammaglobulinemia, and then an unknown immune deficiency. Every step has been a little worse news. I hope that isn't the case this time.

Some of us have had a cold/allergy/sinus infection, but Fiona hasn't had more than a runny nose. I'm so thankful for her treatments. Her last two treatments went really well. She didn't cry when I stuck her, and she was so brave.

This week is spring break, and the weather is nice, so Christian and the kids went to the park last night. Fiona was really excited to swing. She stopped two boys at the park to tell them about her curls, which is what she calls her ponytails. She loves to talk about her hair, it's adorable. She's also a blossoming singer/songwriter. This week's theme is Old MacDonald. Yesterday she was singing "with a poop poop here, and a poop poop there", and today she sang about hating her older sister, because Katherine wouldn't let her take a bath. She's exploring art, and likes to talk about her masterpieces.

Friday, March 20, 2015


Fiona is sick again, fortunately it's so mild we haven't checked to see what it is. We drew her labs just before she had symptoms, so they show what her body does as soon as it encounters a virus. The good news is that her CD3 (regulator t-cells) and CD8 (killer t-cells) responded really well. Her CD4 (helper t-cells) went up slightly, but are still really low. The problem is that helper t-cells tell killer t-cells where to fight. I'm still waiting for more labs to come back.

Fiona has started announcing to anyone listening that she is sick. Sometimes her brain is hot, sometimes it's cold. She likes to have her temperature checked. She needs lots of bandaids for her bruises and scratches. Today she told me that she needs to play "in the warm sunshine" as she ran out the front door with no coat or shoes. It's 43 degrees and mostly cloudy, so she was disappointed.

Friday, March 13, 2015


Yesterday I found our that Fiona's doctor is thinking about a different diagnosis than we have discussed previously. I won't find out what it is until April 8th. That's a long time to wait. As a mom who likes to learn as much as she can, this is going to be an exercise in patience. They are sending me a kit for the lab to draw blood for us to send in to get tested. It takes two weeks for some of the test results to come back. We're also waiting for the results of her genetic tests to come back. I'm not good at waiting.

Thursday, March 12, 2015


Fiona had her pentamidine infusion last week. It was okay. She had to be stuck 5 times to get her IV started, and 4 of her sticks they used an ultrasound to see the vein. Having to be stuck that many times is pretty traumatic for her. This will be a monthly infusion.

I'm starting to think she may need a port. For anyone who doesn't know, a port is a small medical device that would be implanted under her skin. It connects to a vein with a catheter. Her veins have never been great, but we've avoided a port because she's only getting blood drawn. Getting a port would allow them easy access to a vein when they need it. The downside to a port is that it can get infected. With her immune system that would be bad. She's also growing, so her port would have to be replaced a few times as she grows.

Her last labs came back and they look okay. They aren't normal, but they're pretty normal for her. We're waiting to hear what our doctor in Cincinnati thinks about her numbers, and about a port.

She's still healthy, which is nice because she had a pretty long stretch of infections starting last spring. We're starting to think about taking her back to church in April. She escaped the house for a few minutes yesterday and loved it. She was climbing over a snowbank, throwing snow balls, and taking our neighbor's invisible dog fence lawn flags for a "road rally" (thanks to the Mickey's Road Rally cartoon). These are the days that the mommy guilt really kicks in. I'm always trying to weigh the risks. I hate that she doesn't get to have normal kid experiences.

Lately I've been reading about Idiopathic CD4 Lymphocytopenia (ICL). That's just a long way of saying that they don't know why she doesn't have enough CD4 t-cells. CD4 cells are also called helper t-cells, and they are the t-cells that most people know about because of HIV and AIDS. Fiona has a significant helper t-cell deficiency, but she doesn't have HIV or AIDS. Her immune deficiency is called a primary immune deficiency because it's genetic, not acquired, like HIV or AIDS. Because her other t-cell lines are low, I'm not sure that ICL fits her well.

Monday, February 23, 2015


Fiona is scheduled to get her first dose of pentamidine on March 1st. I'm a little worried, but feel better that it's scheduled. I talked to our care coordinator this morning and have a better understanding of the process. It will take about 2 hours to give her the IV. The biggest risk is increased heart rate. If her heart rate increases they would stop the IV and restart it at a slower rate. They will also premedicate her. I'm not sure what the premeds are yet.

I should have Fiona's latest labs today or tomorrow. I'm really curious to see what her lymphocyte levels are now that she hasn't had a virus in over a month. Hopefully they're higher. We go back to Cincinnati on April 1st.

We hit our $8,000 out of pocket this month. I think we will be able to use $3,499 of the copay assistance Hizentra offers. Now we wait to get the medical bills. If the website is right we will need to pay just over $4,000 in medical bills. Thanks to generous donations we were able to pay off last year's bills, and have a start on this year. Fiona's medical fund has helped so much!

Wednesday, February 18, 2015

opportunistic infections

Because Fiona can't take Bactrim she's at risk for opportunistic infections. The one they are most worried about is pneumocystis pneumonia, or PCP. We are working on getting her started on another medicine called Pentamidine. It has to be administered in an IV, and they have to monitor her heart while they give it to her. I'm a little nervous about it.

We drew labs on Monday to check Fiona's lymphocytes. I'm still waiting to see the results. One of the things I love most about Cincinnati Children's is that they post her labs to her account. I usually have the results within a day. I hate waiting for someone to call me with her results.


I've been working on this post for at lease a week. Things have been so crazy I haven't had time to finish it. Christian had surgery last Friday, so I decided to just post this and write a new post to update for the past week.

We want to thank everyone who supported our City Barbeque! It was an amazing day for us, we took all of the kids to dinner, thanks Grandpa! Because Fiona rarely leaves the house, she loved it. We raised $459.43! We also want to thank the donors to her online fundraiser.

We reached our $5,000 deductible before the end of January. Most of the cost was at the pharmacy. Fiona's medicine was almost $3,200. We think the manufacturer's copay assistance will pay that, plus the cost of her medicine until we reach our $8,000 out of pocket maximum. With the money from the fundraiser we think we can pay the rest of the medical bills from last year, and keep up with this year. I'm keeping my fingers crossed.

We got Fiona's beads of courage necklace and beads a few weeks ago. She has too many beads to fit on one necklace. Each bead represents a blood draw, infusion, lab test, hospital stay, proceedure, etc... Looking at her beads was sad for me. She's been through so much, fought so much, and she's been so brave. My hope for her is that someday she'll be cured, and she won't have any more beads to add to her necklace.

Because Fiona's t-cell counts were so low in December we are going to recheck her lymphocyte counts again next week. Her last helper t-cell (cd4) count was 131. To understand how bad that is, an HIV diagnosis changes to an AIDS diagnosis when their count drops below 200. At 150 they would diagnose advanced AIDS. She doesn't have HIV or AIDS. She was born with an unknown genetic defect that is causing her immune system to fail. Hopefully her numbers will be a little higher. They may have been lower last time because she was sick.

We figured out that Fiona's restlessness and irritibility wasn't caused by her infusions. It's caused by her preventative antibiotic, so I stopped giving it to her. Our doctor came up with a new dosing schedule, but she's still miserable. I'm lowering the dose and hoping that she can stay on it. The only benefit of not taking it is that it can lower your immune counts. She is now at high risk for opportunistic infections. Those are infections normal people wouldn't get. 

Tuesday, January 13, 2015

City Barbeque fundraiser

Our amazing friend Julia set up a fundraiser for Fiona at City Barbeque in Carmel. Please join us if you can, and don't forget to take a flyer!