Monday, March 28, 2016

new labs

We had new labs drawn earlier this month. Almost everything is normal. I'm waiting to hear back about the other stuff.

There are some things about her t-cells that are off, but I don't know if they are a problem, because they've never been off before. I'll post more when I know.

She has antibodies to CMV (cytomegalovirus). Most adults have CMV, and don't even know it. It's only a problem for people with immune deficiencies and pregnant women. It remains dormant in your system for life, and can be reactivated. This is the first time she's tested positive.

Her antigen response to candida and tetanus are low. Her candida response has been much  higher than it is now. Candida response is usually linked to helper t-cells, and her helper t-cell level is really good right now. I always thought her low candida response was because of her low helper t-cell level. Her tetanus has always been low. No one naturally responds to tetanus, we develop a response from our vaccines.

She doesn't have protective levels of diptheria, some strains of pneumonia, and tetanus. Her antibody levels were so low before we knew her vaccines didn't work. She will need to be revaccinated.

The great news is she has been really healthy. She's growing, she's learning about social behavior, and she's a wild girl. She loves dinosaurs, and playing outside. She says she wants to be a nature tracker (from Dinosaur Train).

 Last week she told me that she wanted to live in an apartment building that we drove past. She said the strangers there would take good care of her. I asked why she wanted to live with strangers? She said she didn't like the food at our house, and the strangers would feed her lots of fruit. The day before I brought home plums, grapes, and bananas.

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!