I’m Not Dead…Yet.

I just haven’t been able to do anything except study and squish fruit flies.

I haven’t even been to church in…forever.

That’s big.

I’ve struggled to get out of bed, struggled to keep going, struggled to do everything that I need to get done.

I just want to sleep.

All.

The.

Time.

My throat is also slowly progressing to an unable-to-swallow level.

I just want one day where I feel normal.

ONE.

DAY.

But…I’m not dead.

Yet.

Invisible Disease Friday

I really needed a day off.

As each day went on, I had been getting more and more worn out, more and more unable to get up when laying down, more and more exhausted. So a couple of days ago, I decided that since one class was done and the other two were doing finals reviews, I was going to take today off, sleep in, be a lazy bum and not take care of anyone but myself.

Instead, I got stuck carrying the baby down the full flight of stairs that lead to my front door to take her to daycare so I could have a day alone. I got stuck going to campus and taking care of some missing equipment out of my drawer in chem lab. And out of the goodness of my heart I made a lunch run for Lord Imp, who is feeling crappy and I knew was going to need to eat.

And now all I want to do is cry. Because I don’t get to take care of myself and only myself.

All I wanted was 36 hours of not doing anything – not getting out of bed, not cooking, not cleaning, not doing homework and not taking the baby. Instead, I got out of bed at 7:30, struggled down the stairs, took care of the baby for a bit, took a nap, woke up and struggled up and down the stairs several times, struggled to get the baby changed and dressed, struggled to get her in the car seat and prayed as I teetered precariously down the stairs carrying her to the car. In the middle of all that, I had to deal with listening to Lord Imp bitching about how tired he was and how he didn’t feel well.

I really wanted to scream this, but didn’t. So I’m going to scream it here:

WELCOME TO MY WORLD.

I am tired ALL THE TIME. It is not uncommon for me to wake up and legitimately wonder if I have the physical capability of getting out of bed. It is not uncommon for me to not be able to move without an exceeding amount of effort. It is not uncommon for me to fall asleep in classes or want to take naps.

BUT I STILL GET STUFF DONE, and with minimal complaining.

I still do laundry. I still do dishes. I still make the baby breakfast and get her dressed. I still vacuum. I still go to class. I still study. I still do research. I still go to work.

EVERY SINGLE DAY. Despite feeling the same way you are (minus the congestion). My head is ALWAYS foggy. I am ALWAYS tired. And I am ALWAYS woozy.

BUT I STILL GO ON.

Don’t EVER mistake the fact that I am still plugging on without complaint as that I am fine. I AM NOT FINE. I am only moving because my options are to keep going or to die.

And I would kinda like to keep going.

The sad truth is, I’ve been taking spoons from the next day for a while now. And today I woke up with very few of them. And instead of trying to regain my spoon count, I spent today spending them.

I sent a copy of the Spoon Theory to Lord Imp. I hope he finally gets it.

</rant>

Because A Zebra Needs Her Zeal

Having a primary immune deficiency can be very isolating.

This was the only thing going through my mind as I infused tonite, laying alone in bed with my laptop in my lap writing a review on a journal article for immunology. “CVID is isolating.” There I was, alone upstairs, snuggled up in my blanket and hooked up to a Freedom 60 pump, missing human interaction of others who were going through it just like me.

Diabetes has the online community, and it’s prominent and in your face. Do a Twitter search for “diabetes” and all sorts of things come up. Do a search for “immune deficiency” and you find links to press releases and anti-Jenny McCarthy tweets. Which are all awesome, don’t get me wrong, but there isn’t that sense of community that people with diabetes has.

Of course, that is just my impression, and likely has more to do with the fact that I’ve got a touch of social anxiety and don’t like to initiate conversation, even online. I follow people on Twitter, but I don’t tweet them, I don’t start up a conversation. It seems to me that people just don’t talk about it, It’s not like diabetes where the information gets plastered all over your info. It’s like a primary immune deficiency is the dark secret everyone hides in their closet with the dusty skeletons.

I completely understand the desire to live a normal life, to continue on and pretend like nothing’s wrong. I get that it’s relatively easy to forget that you have an immunodeficiency, since taking care of it really doesn’t consume every moment of your day. I just wish that there was the same kind of vocal group out there that diabetes has.

I could join an online community, sure. There are plenty of message boards out there, and I know that there are many devoted to primary immune deficiencies. I can’t be the only one online who understands the wooziness after an infusion due to the Benadryl and the welts consisting of pooled immunoglobulin. I know that I’m not the only one online right now with gauze taped to their abdomen. I know I’m not the only one around who knows the importance of hydrating and knows that it is the best way to prevent the Ig migrane. My question is, where are they all?

According to Twisted Sifter, a group of zebras is called a “zeal.” I don’t care what they’re called, but I need to find a zeal. Zebras work best in groups and their camouflage works best when there’s more than one around. So, immunodeficient people of the world, let’s band together. Let’s form ourselves a zeal and become more strong. Zebras live in zeals because they will live longer that way – why wouldn’t the same be true for us?

Life is Exhausting

Especially when you’re a full-time student.

And a mother.

Working a job until way past your bedtime two nights a week.

With two chronic illnesses that are a full-time job to take care of.

And one of them you’re still waiting for your new insurance company to approve the prior authorisation for the meds for.

I bitch about how run down I feel after an immunoglobulin infusion. But now that I’m overdue for another one, I truly realise how much better I was feeling while getting them.

I really wanna curl up in bed.

But I have to be to work in an hour.

I also really want some fucking Hizentra.

But I’m waiting for the bureaucrats at Upper Peninsula Health Plan to give me the OK to get it.

They told me if it was marked urgent  by my doctor, it could be two to three weeks.

That’s cool, I could get a cold that will turn into pneumonia and I’ll leave you with a nasty hospital bill since I will likely have to be medevaced to Marquette. Not to mention the IVIG I will need to get. That shit alone costs a ton.

But hey, you assholes get to determine whether or not it’s ok for me to get medication.

I forgot that I’m only a dollar sign to the health insurance companies.

Sorry it’s short, but I’m running out of spoons.

The end.

Common Variable Accuracy Deficiency

Lord Imp has recently gotten into watching House, and a couple of days ago he was chatting with me excitedly about watching an episode where a character was diagnosed with CVID. He was all giddy, telling me that he had it figured out 10 minutes in cause that’s what it sounded like. Bless his little heart, he tries so hard to understand the biology behind everything I go through. So I decided to watch it for myself to see what was up and to look at it from a different perspective now that I actually have the rare condition that was talked about.

From the get-go, I found myself wanting to beat my head on the keyboard. Who the hell calls toxoplasmosis a fungus? Idiot show writers who got their information off of Wikipedia, that’s who. Toxoplasmosis is caused by the protozoan Toxoplasma gondii. It’s a parasite. And P.S. I got that from Wikipedia, my microbiology textbook has been packed, didn’t think I was gonna need it until I moved…HA!

The slight fact that they’ve put toxoplasmosis in the wrong kingdom aside, let’s take a minute to talk about presentation. CVID will typically present as recurrent sinus, pulmonary and/or ear infections. Even House said that he wasn’t having the usual pulmonary infections. We’ll leave that point for a minute and allow the writers the benefit of the assumption that someone with CVID has issues fighting any sort of infection, no matter what kind. Where is the recurrence? Where is the pattern of frequent infections? He comes down with one fungal pneumonia and OMG, he’s got CVID! No, sorry folks, that’s not quite how it works.

He also has an extremely low T-cell count. Low T-cells and low B-cells. Sounds more like SCID to me. Which he wouldn’t have made it to kindergarten if had it. There are many reasons to have a low T-cell count, and it can spontaneously develop. According to Medscape, a T-cell deficit can cause a lack of communication between T- and B-cells, causing those B-cells to not reach maturity and leading to the Ig deficiency that is the hallmark of CVID. So that is entirely possible, although I call bullshit on their analysis that this miscommunication is the sole cause and reason behind CVID, seeing as I am a person with perfectly normal (and rather robust, as a matter of fact) T-cells at healthy levels.

And then there’s the testing. I’m going to leave the fact that they told the patient that he had AIDS before even drawing blood and doing a test, and focus instead on the testing itself. For starters, from what I’ve read on several sources, the AIDS test is going to be automatically a double-test when the ELISA comes back positive and it is followed up by a Western blot. House ordered a second test after the first positive, and that one came back negative. If what I am reading is correct, that Western blot should have caught the error, making another blood draw unnecessary. And why not run an Ig assay anyway since toxoplasmosis only progresses in immunocompromised patients? It’s a very inexpensive test, and since you were looking at someone with immune issues, ALL parts of the immune system should have been checked, not just one class. The hairy cell leukemia could have been ruled out with a simple complete blood count and flow cytometry of, funny story, cells in the immune system. AKA killing two birds with one stone. Half a dozen vials of blood in one draw (yeah, a bit of an exaggeration, but you get the point) and a lot of the bullshit could have been avoided.

Now, back to the AIDS bit. Who in the HELL tells a patient they have AIDS before even doing a blood test?? I mean, that just BLEW my mind. That’s like, medical epic fail #1, telling a patient they have a socially stigmatizing and awful illness WITHOUT RUNNING A TEST. OMG I just can’t even wrap my tiny brain around it. That’s just….AAAAAAHHH!!!

Putting the ethics aside and back to the hair-pulling…

The Epstein-Barr virus as well as the epilepsy medication the patient was on as a child are both associated with CVID – on their own. I was unable to find anything saying that the combination was what was associated with it. And the phenytoin he was on seems to only cause temporary CVID, Pub Med had an article where they looked at a guy who developed CVID-like symptoms while on phenytoin – which reversed after coming off the drug. Many drugs can cause low Ig levels, this is not  uncommon at all. However everything I read said that phenytoin-induced Ig deficiency is extremely rare. And it looks to me like it’s impossible to have 30 years later since it appears to only be a temporary side effect of the epilepsy medication.

So then they put the patient on IVIG and BAM! All of a sudden he’s magically cured immediately. Oh, I wish it were that easy. It can take anywhere up to 6 months of continual infusions to get yourself to a point when you are feeling amazing – although after a lifetime of illness, a couple days after your first infusion you do see a noticeable difference. I’m also really confused how IVIG got his T-cells back to normal, too…yeah, if you’re deficient in it, that IVIG isn’t going to do you a damn bit of good, all it’s going to boost up is your IgG levels. Your T-cells are produced by your bone marrow and refined in the thymus, and if you don’t have any you either have some serious production issues going on, you’re on some kind of immunosuppressant, or you have one of a small handful of other illnesses. Either way, one round of IVIG is not going to get your T-cells up. Sorry, Charlie.

And the final, big question…Cameron is a FUCKING IMMUNOLOGIST. WHYYYYYY did she not open her mouth? Sure, Chase mentioned immunoglobulin deficiency and House shot him down, but COME ON. There are a rather large number of immunodeficiencies out there, you have a patient presenting an illness that a healthy person shouldn’t, hello this is your field! Does House own the hospital? No. You’re a doctor, you can order tests just as well as any other guy. I mean sure,  you would have to deal with House’s attitude problem, but he has a short memory, he’ll forget about it in the next episode.

So yes. This is my somewhat-educated, I-am-no-expert rendition of what I found wrong in the episode that I really can think of. I would just like to take this moment to say that all I had to do was use Google. How hard is it for a show’s writers to do? They had to have had a medical expert on the writing staff, you can’t begin to convince me that a medical expert would repeatedly refer to toxoplasmosis as a fungus. Unless there’s just some other organism that causes it. I’m too tired to do that much research. But I digress, everything I found was publicly and freely available, and not that hard to find. Come on, make it a little more accurate, folks.

But then again, it wouldn’t have been that dramatic had they done it the way it should have been done, and had they made it present the way that it should have. Would have made for an awfully boring episode…

The Stress of Exhaustion

I don’t remember moving ever being this stressful.

We moved a lot growing up, by the time I had graduated high school I had lived in 6 different cities in 3 different countries. I had lived on the east coast, the west coast, and by the time I was in my mid-20s I had even lived places in between. 

My mother always coordinated the moves, and always managed to pack up an entire house, bribe three children into packing, start getting angry at three children who still hadn’t packed yet and the movers were coming in two days. She found houses, got utilities set up, and in one case even drove from one end of the Trans Canada highway to the other with three kids in tow and nothing but an early-90s bag phone and three Weird Al Yankovic cassette tapes between her and insanity.

Now that I’m trying to get a move together I fully understand what she went through and I now truly appreciate her efforts. Because I have done everything for this move.

I’m the one who set up house viewings and drove 9 hours with an infant in tow to look at them.

I’m the one who set up the utilities.

I’m the one packing the boxes.

I’m the one coordinating getting stuff up there.

I’m the one concerned with transferring health and car insurance and setting up renters insurance.

I’m the one looking at changing banks.

I’m the one looking for a job.

It’s starting to get to me. I walked into my mother’s house after a few days spent at the in-law’s and I started to freak out.

A complete, total, trembling, unable to breathe freak out.

I have until a week from Friday to get all the stuff together. Get everything packed. Make sure I have all the stuff from this house that I want to take north with me and will need in the new house. And before next Friday, I still have to wrangle a baby, read a chapter of anthropology, complete two modules in the course, take a final, go to a doctor’s appointment about a suspected UTI or kidney stone, hydrate like a champ and receive an IVIG infusion.

My to-do list is on my full-length mirror and takes up the entire thing, with extras added on in the margins. One of those little extras:

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Easier said than done.

I know that freaking out does me no good. I know that it raises my blood sugars and lowers my immune defenses. But I can’t help but worry. I can’t help but be concerned over getting everything done that I need to get done.

It doesn’t help that I’m not getting much in the way of support from Lord Imp, save him taking the baby from me up to his parents so that I can focus on getting things done, but while taking the baby out of town does free me up to get things accomplished, it in and of itself doesn’t lessen the burdens any. Part of the issue is that I really don’t think he understands what we’re doing here. I don’t think he understands that we’re not going to school, we are moving. As in, picking up our lives and transplanting them to the Keweenaw. Which I just had to Google to  make sure I’m spelling it correctly.

I wish he understood that the reason why I do everything so far in advance is because I don’t have the energy to leave things to the last minute like he does. He’s an engineer, engineers by definition leave everything until the night before it’s due. I can’t do that, my body just doesn’t let me. I have to spread everything out so that I don’t use up all my spoons for the next month before everything is done. Shit, I start writing papers a month before they’re due.

I’m exhausted and in desperate need of some R&R. But I don’t have the time to take it. I don’t have the time to sit on my butt and relax and get everything done that I need to get done. I really need it though, I’m tired and in pain and running out of immunoglobulin (although that bit is really just me being overly dramatic). My blood sugars are all over the damn map, after my pseudo panic attack I spent several hours over 200 mg/dL before I crashed back down in a dramatic fashion despite canceling my temp basal hours ago.

To make matters worse, I made the mistake of leaving Baby Imp on the bed a couple of times and she fell while I had my back turned. All it took was looking for a Sharpie or trying to fix myself a plate to eat and BOOM! Baby on the floor, likely having conked her head. I gave her some Tylenol for the pain and an enormous bottle after letting her scream on grandma’s lap while I wolfed down a supper of a chili cheddar brat and a small salad consisting of frozen greens, and she is now conked out to the point where I had to shake her and call her name to get her to stir. I’m honestly freaked out over that as well, although she is breathing and both times she fell she immediately calmed down when I held her. The total height of my bed is only 16 inches from the floor, since I am heavily anti-bed frames because I will just only shove shit under the bed. My carpet is rather soft and if not for all the crap I have strewn all over the floor due to my weird packing routine, worst-case scenario she would just have a bit of a rug burn on her face.

But I’m convinced she nailed her head not once, but twice today. And I’m scared.

And I’m tired.

And I’m stressed out.

And I really need someone to help me with the slack.

Instead, I’m going to blog. And make no sugar added blueberry jam. With wild blueberries.

But first, I’m gonna pack a few boxes.

And the Verdict Is…

Got a phone call from the immunologist today. The results of the genetic test are back in, and the Bruton’s (or X-linked) agammaglobulinemia has been switched to common variable immune deficiency. I lack the mutations in the gene that causes the XLA, and although that I am presenting like XLA there are mutations in the genome that are indicative of the CVID. 

I will admit, this is somewhat of a relief. While the genetic inheritance of CVID isn’t known for 100% fact, what is known is that it’s autosomal and not sex-linked. Making the chances of passing it on to my son slim to none.

That is an enormous relief. I’m still having Baby Imp do an immunoglobulin assay at her 6-month check up just in case, and I notified her brother’s father. We’ll see what he does about it, but whatevs I’ve done what I need to do, it’s completely out of my hands now on that front.

I’m also relieved that I now have a definite name for it. I’ve been calling it XLA since that was how my labs were presenting – deficient in all immunoglobulin classes, no mature B cells and it was unknown if I was making Bruton’s tyrosine kinase. I don’t know if they’re going to do another BTK test and quite frankly, I think it would be a lost cause since the genes that code for BTK are just fine.

I guess though that it begs the question: what else contributes to the maturation process of B cells? I’m sure there are more enzymes that do, I just don’t know what they’re called or even if we know about them. What else is causing this?

I’m having the results emailed to me, and I will be requesting the results from all other labs when I’m in the immunologist’s office here in a few weeks. I want to look over them to see for myself what’s up.

Now’s the time I’m glad I’m a molecular biology/biochemistry major. 🙂