Sibylla Bostoniensis

So, unfortunately, it dawned on me only about ten hours after getting home from the ED (i.e. after I had slept) that the condition my symptoms most match is a thoracic aortic aneurysm, and in the ED I had been asked none of the relevant diagnostic or risk questions for TAA, nor did I, having not had that realization yet, ask them if the tests they had done were indicative of the state of my upper aorta.

Aortic aneurysm is unusual in women under 60, and usually associated with pregnancy. Thoracic aortic aneurysm is the rarer location for an aortic aneurysm, in general.

But the one risk factor other than pregnancy that makes aortic aneurysm much more plausible is a connective tissue disorder.

And here's where the situation gets gnarly: I suspect I have a connective tissue disorder.

I have a lot of reason to think so – I have the kind of injury history that precipitates physicians screening me for EDS. But I don't have EDS. The symptoms I have don't match EDS. I don't stretch, I tear.

But I have multiple medical conditions which are suggestive that there's something wrong with how my body holds itself together. At least one of the conditions I have has been hypothesized to be caused, in some cases like mine, by an as-of-yet undescribed, undiscovered connective tissue disorder.

The thing that triggered the realization that this might be an aortic aneurysm was reviewing the clinical note from the ED visit. They had done a chest X-ray, and there was an incidental finding: I have a very slightly sunken chest, i.e. mild pectus excavatum.

(I kinda always knew there was something slightly non-standard with the shape of my rib cage, from sewing clothes for myself.)

Or more accurately, what triggered the thought was when I looked up what pectus excavatum and its clinical implications were and found out it was a congential condition suggestive of disordered connective tissue, and any of a whole list of known connective tissue disorders.

I of course thought, "Oh, it's not that I'm having a very unlikely (given my age, blood pressure, and blood cholesterol level) cardiac incident, it's that I am very likely having the umpteen-thousandth incident of some connective tissue in my body tearing apart, again. Hmm, let me think, what parts of my body are in the place it hurts which might have given way. ...Oh hell."

So I looked up aortic aneurysm symptoms, and realized somebody at the ED should have asked me if I had had any recent problems with swallowing or history of aneurysms, or, you know, any connective tissue disorders. Because if they had, the answer to all three would have been, "Oh, hey, now that you mention it..."

But none of those things are in my medical record. I have been way too busy with other medical concerns to bring up the swallowing thing – over the last six months or so, I have sometimes had trouble with food getting uncomfortably stuck in my esophagus, apparently hung up on an obstruction. I presented my weird spontaneous bruising to my doctors, but they were unconcerned and mostly dismissive. And I have been trying for over twenty years to get a medical professional to take more than passing clinical interest in the possibility I have a connective tissue disorder, instead of treating every single injury and complication as a separate unrelated condition, and it hasn't happened yet, so there is no connective tissue disorder in my chart.

In the ED, I was asked about my family history of heart disease, but nobody asked me about my family history of connective tissue disorder. My sister has been diagnosed with one. And I have an uncle who needed a heart valve replacement due to a bicuspid aortic valve; there is an association still being explored between bicuspid aortic valves and connective tissue disorder (it is common in Marfan syndrome), so these researchers propose that people found with bicuspid aortas should be screened for connective tissue disorder, and offer a screening scale for doing so. (Disappointingly they based it on Marfan symptoms, which I expect will cause problems down the road.)

The thing is, thoracic aortic aneurysm can be a stable and not particularly concerning. Also it can turn into an thoracic aortic dissection, which is when the largest artery in the body tears. Which is absolutely as catastrophic as it sounds like.

So I emailed my PCPs office to suggest I be seen more quickly (there is a whole story here, and I'm not thrilled how it played out, but maybe later) and they got me in on Wednesday at 4pm by telehealth.

My PCP thinks it's probably just something gastrointestinal (or maybe costochondritis, but my symptoms really don't match). But I point-blank said I was concerned with the possibility it was an aortic aneurysm and asked what was necessary to rule it out. He said a CT with contrast.

So I'm pulling an all-nighter to get to my 9:00 a.m. Sunday morning CT appointment on time.

After about three or four days from the ED visit, the pain started remitting; at this point it's about 95% gone, though something still feels... off.

I hope he's right and this returns nothing of significance, but because there's no official diagnosis of a connective tissue disorder in my chart, I can't just rely on his, or any physician's, professional experience. He tried to push back a bit about the CT, but saw I was adamant and wrote the order. It's one of the reasons I keep him – he's not great, clinically, but he'll write the order.

I am... not pleased with feeling like I have to be my own doctor because actual physicians are caught in a self-sabotaging web epistemological idiocy, where because there's not a specific named syndrome to designate my symptoms, they don't document it, and because they don't document it, it stops being a risk factor when evaluating other, potentially life-threatening, presentations.

Update, 9:50 a.m.: no pathology of the upper aorta! Yay! Going to sleep now.