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…

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. 🙂

No, I’m Really Not All Right, But Thank You For Asking

Lately, I have been finding myself in somewhat of a predicament of a social nature. A common question in our society is to ask “how are you doing?” Of course, whenever someone asks me that, I respond with “I’m fine,” or the more cheeky “well, I’m upright…” On the one hand, it has made it so that people don’t worry about me. However, it has also made it so that people don’t really realise that I am not well at all. On Facebook, you frequently see something like this talking about invisible diseases:

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From sodahead.com

I do think that this explains it all right, but it fails to mention that it’s not just difficult to explain to someone what living with an invisible illness is, it’s downright impossible. My boss, unfortunately, didn’t quite get the memo when I called in the day after my first IVIG because I felt like I had been hit by a Mack truck. “I really need you to come in, do you think it might be at all possible?” Buddy, you try getting 25 grams of pure protein in the form of blood products pumped into your veins and let me know how you feel afterwards. It doesn’t help that I had knee problems going into it. I couldn’t even drive myself home, and I went home and slept. As a matter of fact, I slept all through the day I was supposed to work. I really didn’t feel too hot afterwards.

As a matter of fact, it didn’t occur to him that this is a real serious issue until I told him that I can’t work Tuesday evening because I have a pulmonary function test and CT scan starting at 3 in the afternoon. He made a joke about double-checking that my brain was still there, then got bug-eyed when I mentioned that it wasn’t for my head but for my lungs.

“Is it really that bad?”

Why yes, as a matter of fact, it is. Having pneumonia 5 times and bronchitis at least a dozen times throughout your life will do some damage. 

I’ll admit, I’m scared of the CT scan. The x-rays to make sure the pneumonia I had in April was gone were “clear as mud” to quote my primary care doctor. She wasn’t sure if it was yet another round of pneumonia or scarring from the previous two rounds. So, I got put on antibiotics. Again.

Funny how she’s prescribed them to me 7 times since the beginning of the year and never thought to check the status of my immune system.

But I digress. 

The other thing that I’m scared of is sounding like a whining little wimp when someone asks me how I’m doing and I give them an honest answer. Which today would have been “well, my right ear is clogging up again and I’m worried about it getting infected again because it might mean a hospitalisation for IV antibiotics since I just got off a round of super antibiotics for that same ear. I have a raging headache. I’m exhausted. My throat hurts. And I impaled where my upper lip meets my gums with my toothbrush last night and I’m in a disproportionate and increasing amount of pain. I’m also concerned about that getting infected too. But other than that, I’m fine, thanks for asking.”

But here’s the thing: I’m not wasting away to nothing, I’m still standing, still working, still able to form coherent sentences. I don’t look sick. And people really don’t believe me when I say I’m not feeling well. Except for Lord Imp, he believes me.

Sorry folks, but I have not only one but two major life processes that straight-up don’t work. Just because I’m not looking like I’m wasting away doesn’t mean that I’m fine. As a matter of fact, I’m far from it. But I keep on pushing. And why? Because I’m strong, and I take pride in that strength. I’m proving to myself that I have no limitations. Trust me, when I tell you that I can’t do something, there’s a reason for it. It upsets me greatly to have to turn things down because I’m not feeling well. But you wouldn’t know that, because all you see is someone who looks healthy and is turning you down.

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Suck my tiny little lady balls

I really wish people would do some research. Yup, they still think I have something with an extra-long polysyllabic name. Fucking use Google. Ignore the several sites that say that I have a good chance of not making it to my 40s, they’re ominous and I don’t like thinking about it. I’m not looking for your pity, I’m just looking for you to understand what I’m going through, even if it’s just a little bit.

Sorry folks, but I’m really not all right.

 

Don’t Panic

They want to do bloodwork on my siblings and daughter now.

“Don’t worry.” Those two words I heard at least three times from the nurse’s mouth. “Don’t worry. We’re just looking for genetic links.”

Lady, I’m a molecular biology student. I know what this means. I also know that there are unknown patterns of inheritance for CVID. So the question is, do I really have ARA?

To be honest, it doesn’t particularly matter. The treatment options are the same, and I’m done having kids. Baby Imp is healthy as a horse thus far, but I won’t object to getting her tested. My siblings both have champion immune systems (my brother’s is in overdrive, as a matter of fact).

I just wish I had a definitive name to call this. I’ve been calling it CVID thus far, just to give it a name. We’ll see what it really turns out to be.

The nurse should be calling me sometime today. I’m gonna straight-up ask her.

In the meantime:

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Image by VigilantMeadow on Deviantart