hypochondria

The Past

I’ve always been ambiguously sickly.

There was always SOMETHING wrong when I was a kid. A stomach ache, a toothache, an ear ache, dizziness, a random pain, so on and so fourth. When a kid always has something ambiguous and unprovable wrong, it’s easy to dismiss that as fussiness.

I remember my experiences well, but looking through the lens of experience, it’s still hard to sort out some things. What I had was a severe anxiety disorder, for sure. That’s probably the actual source of most of the gastro-intestinal issues I had. I distinctly remember working myself up in to a panic at the idea of going to school, and driving myself to hyperventilating or throwing up. I definitely faked a few fevers to stay home, and remember the immediate relief when I’m succeeded in my ruse.

That nervous disposition made it very easy to view me as ‘dramatic.’ And unfortunately, I think it’s human nature to put kids in boxes. Once you decide a kid is being dramatic about their health, then all of their experiences become part of that drama.

We had a family doctor growing up, Dr. Agee. Dr. Agee saw me as a dramatic child. A hypochondriac, acting out to get attention. Attention has never been something I wanted, I always just hoped to sink in to the background. But once your doctor thinks that about you, it skews how they view any problem you present with.

I could never run very fast. I was always clumsy. I slept a lot. I was always fatigued (but also adhd hyperactive. You can be both! They do not cancel each other out, they just make you pissy and weird.) I was always last in any gym class competition. I was always winded or in pain when nobody else was. Everything was harder for me, because I was “dramatic.”

I thought I broke my foot when I was, oh, 11-ish. I was sure it was broken. It was excruciating. My mom took me to the doctor, she examined it, and determined it was fine. So I did my best to deal with the pain and go about life. The pain got better after a while, but never went away. I thought I broke it again maybe a year later. That time, they did an x-ray. My family doctor looked at it, said there was a spot that COULD be a hairline fracture, but was almost certainly nothing. Still, she humored me, and it got wrapped and I got some crutches. I stayed off it for a few weeks, then was told to start using it. It still felt broken. Some days it hurt so bad I’d start sobbing at the idea of standing up. I would get sent to the school nurse, my mom would pick me up, and I’d see her frustration. I felt guilty. Was I just being dramatic? I thought I broke it a third time, and I just started using the crutches again and tried not to make a fuss about it.

Anyhow, around high school, a lot of my issues improved. And I thought, huh, maybe I was just dramatic! Looking back, I realized I just got very good at ignoring and pushing through. I had learned that making a fuss does nothing to solve the issues, and just adds guilt and shame to the plate. I had learned to accept that actually, everyone felt like this, and I was just dramatic.

… As it turns out, I was not being dramatic.

This is an extremely condensed version of my cptsd from medical trauma. I’m not even going to touch on the mental health things, just the physical ones. The mental health history is about the same, though. Just replace all the physical maladies with “anxiety,” “adhd,” “depression.”

The first time I experienced a medical professional validating one of my complaints was when I was 22. I had at that point learned to shut up at doctors, there was no point in expressing complaints. I was meeting with a new general practitioner and we were going over basics, and (probably because she has a history in sports medicine) she was being pretty detailed on patient history with physical injuries etc. She specifically asked if I had any feet problems, and I said “The left one hurts sometimes but it’s not a big deal.”

I expected that to be the end of that subject, but even just the fact that she acknowledged it was shocking. She asked for more detail, and I told her that sometimes I step wrong and I have to stop moving because it hurts to bad, but it gets better after a few minutes normally. She kept pressing, and I told her it hurts a little all the time, but just like a normal baseline pain, it doesn’t really bother me.

She then asked me to take off my shoes, so I took off my left shoe. And she told me to take off the other one, and I said “No, it’s just the left foot.” And she said “The easiest way to identify a potential foot issue is not by looking at the foot, but by looking at the symmetry between both feet.” She had me take off both shoes, both socks, and stand up.

And she stared at me for a moment, and she said, in the blunt casual way she still does today “well that’s not right.”

I think most people would be concerned or maybe even annoyed if a doctor said something like that. Before she could even say more, my response was to break down crying in relief. This had plagued me my whole life. I had been dismissed so many times. I had convinced myself nothing was wrong, that it was in my head. This tiny crack of acknowledgement was enough to break a dam of emotions, and I lost it.

She sent me to a foot specialist, who took x-rays. She put the x-rays up on the screen, looked at them, and the first thing she said was “Wow, you must be in terrible pain.”

Cue more crying.

As it turns out, I have accessory naviculars in both feet. It’s an extra bone or bone fragment that floats above your navicular bone on the inside arch of your foot. It’s a fairly common anomaly and normally causes minimal or no issue. In my case, on the left foot, it had WRECKED SHOP. Many of the bones were bent at strange angles. My arch was messed up. My ankle was bent strangely. The tendon was not running through the right part of the foot. The right foot was messed up too, but not to the same degree. The stress on the bones HAD in fact caused repeated hairline fractures (so, yes, I was just walking around on a broken foot for like three years.)

She said she was not surprised a general practitioner couldn’t see the issue, but it would have been extremely obvious at a glance to any foot specialist. She said that early in life, like when I first got x-rays done, the issue probably could have been significantly improved with orthopedics. It would require serious reconstructive surgery to fix now due to the negligence.

So, she removed a bone, cut a tendon, did some rearranging, put in two pins, and I spent months with a walker and then crutches. But I can walk without pain now. Turns out, I wasn’t making that up.

Chronic toothaches? Turns out I have genetically bad teeth. Despite good dental care my whole life, I had to have twelve fillings by the time I was 16. I’m probably due for more, though can’t afford it. Chronic earaches? Well, bad teeth, plus I have a vertigo disorder now. Fatigue? Winded? Joint pain? Turns out I have a b12 deficiency, probably EDS, and now it’s looking like I may have Alpha-1 – I’ll know in a few weeks, waiting on results.

The Future

For the last 10 years or so, every medical issue I’ve learned I had has been GOOD news. This is a feeling that healthy people have trouble grasping, but most sickly people know very well. Finding out you have a particular problem does not result in an “oh no, this will plague me for life.” feeling. It results in a “I KNEW this was a problem, and now I have an ANSWER and can make a PLAN.” feeling. I’ve felt empowered by every diagnoses or even lead I’ve gotten. It’s been a huge part of my growth and development, and also a big part of my identity (this is why so many people unintentionally ‘become’ their conditions, which I know can be kind of overbearing and annoying.)

But the last few months, the reality of my deterioration is setting in. ADHD has been a bit of a shield. I wouldn’t call it a blessing by any stretch, it’s made SO many other things very difficult for me. But my brand of ADHD comes with a few perks: That sense of immortality and indestructibleness that children so often have has carried over in to my adult life. I run around, I climb trees, I jump on things, I do dumb stuff all the time. I ignore my body’s signs that I need to slow down. I have become excellent at ignoring pain. I push it too far, over and over and over again. But the last few years, some of my issues – Most specifically joint pain – have become rapidly worse. And the last few months, they’ve become impossible to ignore and almost impossible to push through.

Yesterday, I did what I always do and ignored my body. We’re having a big neighborhood festival, and my hips were a little sore before I even started walking. I thought to myself “I should go kayaking today since I know I want to do that this weekend, and it won’t wear me out too bad. The festival is all weekend, I will save that for Sunday.” But then I went out on Saturday. I walked for maybe a mile and a half, maybe two. Some days, I can walk that with no problem. But I was sore before I started, and I should have listened to myself.

Pain kept getting worse, I kept ignoring it. But eventually (luckily when I was only maybe a third of a mile from home) my right hip started pretty severely subluxating (kind of partially popping out of the socket.) Probably the worst it’s done it. I ended up using my hand to apply pressure literally to hold it in place while I walked. About a block from home, I was applying so much pressure to keep it in place that my shoulder started to feel like it was going to pull out of the socket, too. That’s new.

I ended up having to sit outside for an hour after I got home because I did not think I could make it up the stairs.

And now today, I’m probably house-ridden. I can’t go kayak. There is no way I can get it on and off my car and carry it to the water. Even just walking downstairs from my apartment on the third floor is probably going to be fairly insufferable.

Almost all of the things I enjoy in life require mobility. I hike. I kayak. I camp. I built stuff. I garden. And most days, I don’t dwell too much on my deteriorating joints. I can see through the clouds, and think of all the ways I can still keep doing these things even if my joints get really bad. But some days, it’s really hard not to just want to accept that I’m going to lose access to my passions.

On top of that, I’m now facing the possibility of a serious lung issue. This one might be nothing. I won’t know for a few weeks at least.

I have not had serious lung issues in the past. I don’t have asthma or anything like that. I’ve always been a bit easily winded, but more the “dang I’m out of shape” kind and not the “something is seriously wrong” kind. I remember three distinct occasions of having what I thought was an asthma attack, but each time was when I was pushing myself way too hard while being physically active so it’s easy to ride them off. The last few years I’ve developed some sleep breathing issues, some kind of apnea, but it’s intermittent. I’ve gotten really phlegmy the last few years too, but I mostly chock that up to allergies.

A few weeks ago, while looking through some old family history stuff, I noticed that under my maternal grandmother and my maternal grandfather was a note that said “Alpha-1” with no other information. I didn’t know what that was, I guess I had not looked it up in the past, so I did on this occasion. Alpha-1 in this context is the short version of “alpha-1 antitrypsin deficiency.” I’m still wrapping my head around all of the details, but in short, it’s a defective serpina1 gene that causes your liver to produce defective AAT proteins. AAT proteins serve a specific purpose, and that is helping your lungs fight off infection and heal from damage. The defective proteins can not escape the liver and build up in there, which can result in liver problems. And that means they can’t reach your lungs, which results in lung problems. Some issues can start off early in life, but most symptoms do not begin until your 30’s. (I am currently 34.)

I asked my mother if she had any more information about this, so she looked up the results from the genetic test (just one of those mail in ‘discover your family history!’ tests) she had done for her and my father. It lists both her and my father as carriers.

This means that their offspring have a 25% chance of not being a carrier (not inheriting any defective serpina1 gene,) a 50% of being a carrier (inheriting one copy of the defective gene,) and a 25% of having alpha-1 antitrypsin deficiency (inheriting two defective copies.)

There are a few different ways the gene can be defective, so there’s more to it than that. Depending on which genes you get, carriers can also have symptoms and face illness. If you straight up have alpha-1 antitrypsin deficiency, you’re likely to face lung issues, and possibly liver issues. Sometimes serious.

My grandmother had terrible emphysema, she died from it in her 60’s. She could barely walk from the kitchen to the bedroom. I was very close with my grandmother, and the thought of being in that condition in my 60’s is horrifying to me. I really, really struggle with the idea of being non-self-sufficient. It’s a nightmare for me. So this whole situation has really gotten in my head.

My mother, a carrier, also has serious lung issues. That said, she also had lung cancer, so it’s really impossible to say what role alpha-1 could play in her repeated lung infections and emphysema.

Reading more about the disease, I learned that infants who inherit alpha-1 antitrypsin deficiency are often born jaundiced. Now, infants can be born jaundiced for a lot of reasons, but the fact that I was in fact born severely jaundiced certainly isn’t reassuring here.

You can get a blood test to check for AAT levels in your blood. This is not a test for alpha-1 antitrypsin deficiency, as AAT levels tend to decrease over time with alpha-1. I could have normal levels now and still have alpha-1 antitrypsin deficiency. It doesn’t check the shape of the proteins, just how much is floatin’ around in there. But anxiety won over so I ordered lab work (hey, for $50 it seemed worth the potential to ease my panic about mortality.)

Normal AAT levels, based on the source you’re looking at, can range anywhere from 75mg/dL to 300ish. When specifically looking at Alpha-1 patients, anything under 80mg/dL is considered serious cause for concern. So, that said, I was not particularly comforted when mine came back at a level of 88mg/dL, though it’s certainly not low enough to be a definitive result.

Luckily, thanks to my family history and current sleep apnea issues, I actually qualified for free complete genetic testing for Alpha-1 through a research study. I sent in my blood sample a few weeks ago, and they say it takes up to 8 weeks to process and sent out the results. So I’m sitting in limbo right now on that one, but at least I will have some definitive answers either way. That means a lot to me with my ambiguous history.

Even if I do have full blown alpha-1, it doesn’t bode terrible – If I can afford treatment. You can get infusions of the missing protein weekly and that’ll keep everything on the right track. I don’t have insurance and I live in the United States so, uh, yeah.

So what this all comes down to, is that I’m kind of facing my mortality for the first time in my life. The possibility that I am going to be very sick, that I’m going to keep falling apart, that I might not be able to be self-sufficient in 20 years, maybe 10 years, who knows. And I am really struggling with this idea right now.

My approach is not to be conservative with my health. My approach is to push myself hard, stay as active as I can, and do all the stupid shit I want to do now in case I can’t do it later. Fuck it.

I should probably go out kayaking today.