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?

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. 🙂

My Poor Little Baby

There is nothing that breaks your heart more than when your child is sick and there’s nothing that you can do.

Saturday night, Baby Imp woke up screaming. As in, inconsolable screaming. So I got out of bed, gave her a bottle, she fell asleep and I put her back down. And she woke right back up, screaming. Between Lord Imp and I, we rinsed and repeated about 3 times until I noticed she was feeling awfully warm.

So out came the rectal thermometer. And it came back at 102.4 degrees.

Cue the urge to freak out. A fever in an infant is any temperature higher than 100.4 degrees. And since this is a first-time event, I had no idea what to do. 

So we brought Baby Imp to the ER. Where we were told that it’s probably something viral, put her on Tylenol and Motrin, give her plenty of fluids, follow up with the pediatrician and come back if she gets worse.

For any normal parent, this is a completely legit way to diagnose what was going on – we don’t know, just keep her comfortable. To a parent with a primary immune deficiency, that’s just not good enough. To a parent completely lacking in any sort of antibodies, being told “I don’t know” is downright scary. I like to know what I’m up against. And I have a child running a high fever. If it’s a cold, I need to know if it’s a cold. If it’s the flu, I need to know it’s the flu. If it’s measles, I sure as hell need to know that it’s measles. That way if and when I come down with whatever the baby has, I am able to tell my immunologist what’s up and I can be given the correct antibodies if necessary without delay.

But, we were just told the baby is sick, keep her comfortable. Incredibly frustrating. Especially since I gave up on sleep that night to bring her in. I went to work Sunday morning only having gotten an hour’s worth of sleep since 11:30 the night before.

Even more frustrating, her condition deteriorated on Sunday. She wasn’t eating much, was lethargic, incredibly fussy, and her temperature had climbed to 104.1 despite alternating between Tylenol and Motrin every four hours. Lord Imp called me at work freaking out, and I told him to bring the baby back to the ER.

This time around, we fortunately had a more thorough examination. Everything came back negative and I did feel bad for putting the baby through all the tests she went through. Some may even think that I’m selfish for putting her through that. But given that sickness for someone with a primary immune deficiency can sometimes equal a hospitalisation, it was necessary not only for the baby but for me as well.

And I can’t be a good mother if I’m in the hospital.

My mother yesterday had brought up the possibility of the baby having roseola. Roseola is an incredibly common illness in children under 2 – from what I’ve read, estimates are as high as just a hair under 100% of adults having antibodies against it, indicating prior exposure to the disease. It presents itself first as a sudden high fever, then after a few days the fever breaks and a rash starts. It’s highly communicable and the fever is uncomfortable, but it is by no means fatal nor anything to worry about. It’s really more of an inconvenient pain in the ass. So at the baby’s follow-up appointment, I asked her pediatrician about it. He agreed that this was very likely the cause of the baby’s illness, and told me to keep up with the fever medication, to not be surprised if the fever suddenly dissipates and she starts having a rash on her trunk, and to call if there were any concerns.

The good news is, Baby Imp has been a little more engaging in a positive manner today – she was even smiling towards the end of the night, something she hadn’t done since Saturday afternoon. She finally started letting me put her down (she was not happy with not being in someone’s arms at all, neither Lord Imp nor I got any sleep until about midnight last night), she got a good 5 hours worth of sleep last night and she even took a few naps today. She was in a much better mood tonight than she had been, probably due to the fact that she finally got herself a little rest. She’s in her crib right now, conked out. 

A huge part of me is relieved that she is finally looking like she is working her way through this. The other part of me is paranoid. Like, super paranoid. I hate having fevers, I hate being sick, and I don’t know how I’m going to be able to take care of the baby on my own if I do get sick since Lord Imp is out of town for work. I’ve been taking my temperature about every 6 hours during waking time for the past two days, just to keep an eye on it. 

We’ll see what happens. I may lack the antibodies that keep germs out, but I have a supply of those that fight the infections. If all goes well, all I’ll end up with is feeling kinda meh. I can handle feeling kinda meh, I didn’t get any sort of sleep until after midnight last night, I’ve been rocking the feeling kinda meh thing for the last 72 hours like a boss. Although I was able to get a good 3 or so hour long nap in while the baby slept, and I was feeling better. Add on to that the fact that I stopped cheating on the low-carb diet and I feel even better (I’m saving my burger/fries/pizza/Egg McMuffin experience for another post).

But I’m still tired. And now it’s bedtime.

Crossing the Finish Line

Today was it. The day of the Meijer Festival of Races at the 2014 National Cherry Festival. I have crossed the start line. I have crossed the finish line. Yay!

Like everything else I do, I got there early. Way early. As in, an hour before my race was supposed to start. Admittedly, this was mostly due to the fact that I thought it would take me way longer than it did to get my packet. And find parking. Hell, I even had time to swing by Burger King to carb up a bit. And still got into the parking lot an hour before I needed to be anywhere.

Oh well.

So I sat there, ate my sausage and hash browns, put on my knee brace, popped a couple ibuprofen and then decided to wander my way over to the start line to stand there by myself, looking like an idiot

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Thankfully, we didn’t end up having to maneuver ourselves around that Tundra.

And there I stood. I wandered around some, found the hydration station, noted where the port-a-potties were and was thankful that I knew what buildings on campus were open so that I didn’t have to use them. And then they told us all to line up, and since I had nothing better to do I headed over.

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I really don’t do this selfie thing.

I lined myself up under what they called the “Fun” section, with the people planning on doing 12:30+ per mile. I figured that was a really good place for me. I haven’t done a 12-minute mile since I was 14, prior to the knee blowing out and subsequent surgery. Besides, the Fun section was where all the fun was anyway, and I wasn’t there to win, I was just there to do it as a symbol of all that I’ve been through and all that I’ve accomplished.

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The fun is always where I’m at.

We sang the Star-Spangled Banner, and then we were off. And I ran. I ran a good half-mile, as a matter of fact. A slow jogging pace, but it’s still the longest I have been able to run in one shot. Ever. Until my thighs started protesting, and I had to slow it down. I jogged a little here and a little there, but in the end it was a lot of walking. The miles seemed to drag on, probably because when I go for my runs, I know exactly where the mile markers are and I can anticipate them. As a matter of fact, I use the known man-made mile markers (AKA where roads intersect) as a point to focus on when I’m going. I will say though that it really did feel like there was more than a mile between the signs, but I’m sure that’s just my inexperience talking.

So there I was, walking along, and then I got into downtown. Which was hands-down the most awesome feeling, ever. All those people, lining the roads, cheering and making noise. Now, there had been people all along the route, chilling in their camp chairs in their front yards cheering us on, but getting into downtown was something else. All the noise, all the excitement, that was something that I had never experienced before. And it felt good. It was a straight shot for about half a mile and I could see the finish line, and despite the fact that my busted left knee was vehemently protesting, I started jogging again. I had to stop for a bit, my knee couldn’t take it, but once I hit Mile 3, knowing I only had 0.10 miles to go, I ran. No sprint, just a light job, but I ran.

And I crossed the finish line. Running.

I will admit that it took a bit of work to keep from sobbing as I crossed. I had done it! Despite the diabetes, despite the primary immune deficiency, despite a lifetime of chest pain and knee pain, I did it. I crossed the finish line. It was hands-down the best feeling ever. Hearing my name announced as I crossed was something else. It gave a new level of accomplishment that I have never before felt. And it felt good.

My brother was running the 10K so I waited for him at the finish line because I wanted to be there cheering him on. Lord Imp wasn’t keen on getting up out of bed to meet me at the finish line which made me sad a little, and I got over it. But I wanted to be the person cheering my brother. I wanted to take photos of him crossing the finish line, but knowing that my shutter speed on my phone is awful and I’m really bad at taking action shots, I put the phone away. But not after accidentally taking some photos that can only be filed under “weird shit I find on my Lumia.”

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Because everyone needs a photo of a crosswalk on their phone.

My brother finally crossed and I met up with him, and I continued my diet-destroying for the day by snagging myself an M&M cookie that it turns out I really needed because after that cookie, a slice of cherry walnut bread, a diabetic-friendly-ish cup of cherries and 45 minutes and a couple units of insulin, my blood sugar was only 115. And that was even after keeping a 25% temp basal running since about halfway through the race.

I destroyed that awesome blood sugar and my diet even further with a stack of pancakes at our favourite breakfast stop after the race with my family. And to be honest, I really don’t care right now. Those pancakes were good.

All-in-all, it was definitely an experience that I plan on doing again. Sure, my knee still hurts and my calves are a little sore (even with Lord Imp massaging them), but it was a lot of fun. It made me feel like I was in control of me, myself, my body and my destiny. And right now, that mental strength is what I need more than anything.

 

The Zebra Among the Horses

Life is full of frustrations. Today I discovered that manually having to save post drafts is one of them. I write what I’m thinking, the minute I’m thinking of it, and saving is the very last thing that’s on my mind. Until my computer crashes or I accidentally hit a very sensitive button on the side of my mouse that sends my browser page backwards. I have lost this post twice today, and it’s driving me bonkers.

Happy Bunny FTW

After I hit the “Save” button on the bottom of the text field, a button I used to never have to press unless I wanted to and a process which now takes far longer than the original, I began to think about how to once again compose my post. And I thought a lot about frustration. Not so much the frustration I’m having with the computer right now, but the frustration associated with how long it took for me to finally get a diagnosis as to why I had spent my entire life getting sick.

The whole reasoning behind this entry came as the result of a piece I read on KevinMD.com by Shirie Leng, MD about the difficulties doctors face in diagnosing and treating patients, and the subsequent malpractice suits that arise when that horse turns out to be a zebra. She talks about a young man who had gone into the ER complaining of cough, fever and chest pain, was told he likely had the flu or a cold, prescribed antibiotics and sent on his way. Unfortunately, it turned out that the patient had a difficult to diagnose and impossible to treat virus, and passed away not long after. The family then sued for malpractice – and won.

Only in America can you sue a doctor for malpractice because he didn’t think to do a battery of tests on someone who was clinically presenting a common illness that millions of people get every day. Doctors are taught to look for horses not zebras, and for the most part it makes sense. Statistically speaking, it’s so rare to get a zebra illness that it just makes no sense to go that extra mile. Dr. Leng brings up an excellent point that hospitals are required to cut costs, and this poor doctor is now facing higher malpractice suit premiums because he didn’t do a whole slew of tests that probably never even occurred to him to do. Since he didn’t perform all kinds of expensive testing for a virtually impossible to diagnose illness that patient likely wouldn’t have had anyway, he did the right thing by sparing the patient the discomfort of going through a heart biopsy that statistically speaking would have resulted in nothing. Given the evidence, I wouldn’t have even thought about the rare virus the patient ended up dying from, and I’m not surprised at all that the doctor treated the patient the way that he did.

This made me think about my own situation a little. I’ve spent the past month or so frustrated that I have been sick my entire life and no one bothered to look for an underlying cause. I’ve been frustrated at having been on round after round after round of antibiotics, and getting told to “get the diabetes under control” and I would stop getting sick so often. I’ve been frustrated that the first person to say “you are way too old to be getting ear infections, let’s have a look at your immune system” didn’t come around until I was pushing 30. But to be honest, after reading that article and seeing it from the doctor’s side of the stethoscope, I have a little more understanding now of why things happened the way that it did. The fact of the matter is, it is very common for type 1 diabetics to have issues with illness and yeast growth. It is also very common for children to have ear infections, and very common for people living in New Jersey to have sinus infections (cause you know, smog). I’m a little upset that my PCP in Jersey brushed off my complaints of the allergy medication, decongestant and nasal spray use didn’t keep the infections away, but given that he had to have been in his 90s at the time, he probably just literally didn’t hear me. I have been quite upset and frustrated that for all this time, the “this shouldn’t be happening” comments were followed by criticisms of my self-management of diabetes or my lack of healthcare (because prior to 2014 it was sooooooo easy for someone with a pre-existing condition to get health insurance, after all). I’ve been frustrated that the “this shouldn’t be happening” comments weren’t followed by a “now, let’s find out why” and a series of tests until the beginning of last month.

Of course, I very likely have the reaction that I do because I’m still alive and I still have a chance. I have no intentions of suing anyone for malpractice despite the possibility of having irreparable damage in my lungs (still waiting for results on that). Had I died, perhaps things would be different. Maybe I would want to sue from beyond the grave.

Zombies

BTW I freaking love that movie

Maybe I would go to the grave angry. But I don’t want to be angry or frustrated. Yes, I have been living with a primary immune deficiency my entire life that no one caught. Yes, I am very well aware that I shouldn’t even be alive. Yes, I know that for my entire life, I have had Ig levels either at or only a hair above 0, I know that I have no mature B cells and it’s “inconclusive” that my body makes Bruton’s tyrosine kinase. I am very well aware at how incredibly rare it is for a female to present like this. Yes, Mayo Clinic, I am also very well aware that I am in fact a female, but thanks for asking just to be sure (yes, that actually did happen).

In the end, I am eternally grateful that I was able to make it this far. I am grateful that I had what I thought was an allergic reaction, which got me into the immunologist’s office. It may have taken almost 30 years for the blood work to happen so that we could find this out, but I don’t blame any of my doctors in the past for missing the underlying cause. I don’t blame any of them for looking at me as a horse instead of a zebra. Instead, I am going to hold my head up high and strut around the savanna in my trendy zebra stripes.

I don’t hold the medical community accountable for looking at me like a horse. All I do is ask that maybe you keep in the back of your mind that the zebras do exist.

Steep Downward Slide

Please allow me to acquaint you with the progression of my blood sugars over the 4 hours since discovering my site was kinked:

I think my site is working perfectly fine now.

It doesn’t help that my blood sugars tend to crash following an IVIG infusion. The last time around, I spent the day of in bed sleeping and I spent the day after adjusting the pump. I’m in for an awfully long night. Good thing I can spend all day tomorrow sleeping.

After seeing that lovely blood glucose reading of 48 mg/dL, I did what any normal girl who had her sugars drop 355 points in 4 hours would do:

Mmm carbs…

I’ll be honest, after 8 months of low carb I really didn’t enjoy those Doritos and Faygo as much as I used to – and it has nothing to do with the fact that those chips should be Better Made ones. I’ve read about people losing their taste for carbohydrates after going LCHF, and I’m now wondering if I am one of those? In a past life, that can would have been gone as well as 3/4 of the bag…well, I only drank 1/3 of it and I stopped at maybe 2 oz of chips – twice the serving size, but way less than I would have eaten a year ago. Blood sugar right now is at 73, so I’m at least at a perfectly liveable state, the temp basal got cancelled and that extreme 10 unit dose of Novalog at 7 this evening in an effort to drop the sugars, I have no idea how much is left active because I didn’t deliver it through the pump. I’ll probably be up for another couple of hours just to make sure I don’t crash. In the meantime though, I’m uploading the pump settings since I’m curious to see what the IVIG will do to my settings so that maybe I can anticipate it next month. I seem to go on a dip and then I start raising my settings after 2 and a half weeks or so when I start running out of Ig because I’ve started out with active infections and I’m having a tough time fighting things again. I want to be able to have data so that I can anticipate what I need to do for next month’s round.

My life would be so much easier if illness didn’t spike the crap out of my blood sugars.

Of course, I will be doing this all over again when I start on the SCIG, but whatevs. The more data, the better. I do hope that the SCIG will keep me on a more even level so that I don’t go through the peaks and valleys with the blood sugars and the peaks and valleys with my energy levels. Because last month was extreme. I’m hoping that this month, like the infusion, will go better.

And here I was trying to add a “Diabetes” tag to the post, getting pissed off because I am mashing on the enter key and it’s not adding, yet I can add everything else…until I realised that “Diabetes” was the first one I put in…yeah, I think it’s time for me to go to bed…

Take Two

Went in for my second IVIG therapy today, and it was a vastly different experience than my last one. Instead of curling up in a ball, sobbing, shivering and in quite a bit of lower back and knee pain, I made it through this round without a hitch. No pain, no feeling of cold, not even a headache. I still have yet to develop one, which is amazing. My mother thinks that it’s because this time around my body is a little more used to it. A lifetime of zero immunoglobulin and then suddenly pumping 25mg of the stuff in…makes sense that it made me feel awful.

However, what did make me feel awful…how about some serious high blood sugar levels. Woke up well over 300 this morning, so I shot up via syringe. Added a bunch more before breakfast mostly because I mistakenly stacked doses, but knowing that I was fixing to be pumped with 5% dextrose solution, I didn’t worry about it. Ran some errands, found that my blood sugar was high again, went to the bathroom and discovered that my set had come disconnected. So I snapped myself in, bolused through the pump and figuring that everything was fine, went on my way.

I spent the rest of the afternoon pumping insulin through a syringe until I ended up logging a 403 after a supper that consisted of carb-free crab cakes and sauteed zucchini that could not have had more than 2g of carbohydrates in the entire meal. So I decided the site had gone bad after less than 24 hours in, so I went to change it out.

Well, that explains a lot…

Yup, the cannula kinked. That happens an awful lot. It makes me sad, since it makes it so that very limited insulin comes out of the system, sending blood sugars through the roof. So, I sighed, and busted open the box of Medtronic Mio infusion sets that I had received in my last order because I had heard that they didn’t kink as much and I finally remembered to change. Added bonus, they’re bright pink. So now that’s in and I’m hoping that my blood sugar will come back down.

But all in all, the infusion was a success. Minimal complications, and the cough I had been developing the last week has magically disappeared. With any amount of luck, over the next three days my lungs will clear out and I can actually run. Which would be excellent, seeing as I’m doing my first 5K on Saturday.

I will say though that while I don’t exactly look forward to IVIG sessions, I do look forward to feeling well afterwards. Never before had I known what it was like to feel healthy, and I’m well on my way to feeling completely normal for the first time in my life – or at least as close to normal as one can feel with type 1 diabetes. I have always wanted to be able to run, and my lungs always burned like fire whenever I did. Since starting IVIG, I have been able to do it with minimal chest discomfort – in fact, the pain comes more from my out-of-shape thighs and the knee that I had an ACL reconstruction done on just before my 15th birthday.

Today, I feel like a whole new woman. And I’m looking forward to going out and exercising tomorrow. That will be my last run/walk before the 5K. And I can’t wait. 🙂