Which type do I have? Doctors don’t always agree

Posted June 10, 2019

By Caleb H.

In January of 2000, when I was 2-years-old I came down with an illness which, contrary to EDS, most of the world has enough familiarity with to despise: the unfortunately common, unpleasant, but benign wintertime stomach flu. And common, unpleasant, but benign is how it should have gone. But, ironically, this common and benign condition would open the portal to a medical Narnia—an ultra rare, bizarre wonderland of issues that gawk at conventionality, and instead bombard you with witches and fauns and talking beavers, just for the sake of confusing your doctor.

This simple virus took such a toll on my body that, rather than be sick for a day or two until it ran its course, I ended up being admitted to the hospital for liver failure. After I recovered, my mother followed that freaky supernatural intuition that mothers get, and begged the doctors to determine the cause of the episode. They wrote it off as an unfortunate fluke, told her not to worry, and sent me on my way to be a normal kid. And for awhile there, that’s what I was: an unusually tired kid with an attention span the length of my pinky, and who caught every virus I came within a 30-foot-radius of, but still a relatively normal kid. I went to school, worked through my foggy, flighty mental state with sheer determination, made friends, and well, had a life.

Then in 2nd grade the bane of my existence came back with a vengeance: I’m guessing winter of 2005-2006 was a particularly bad year for the stomach flu, because I woke up with it two separate times. The first time, in early January, went as you would expect: unpleasant, but harmless. Plus, I caught it that time in the McDonald’s playhouse — newsflash to parents and children: You can’t really go into a McDonald’s playhouse and expect to come out of it healthy — so I had earned it.

(Skip this paragraph if you’re squeamish…and, if you’re squeamish, and you have to deal with a condition that is infamous for its hypermobile tricks and frequent dislocations, I send my condolences.) The second time was mid-February. That time made the first time seem like a romp in the germy ball pit. I woke up with it that night, and it only got worse as the hours drew on, progressing from actual vomit to dry-heaving what looked like coffee grounds. By dawn, my temperature was 94, at a time when I should have had a fever. The coffee grounds were actually dried up blood from my lower GI tract, and I was going into hypovolemic shock.

After that incident, people besides my mother finally started getting suspicious. Nobody was sure what to do besides keep me on a diet of soft food for a few months (which, by the way, was much more miserable than the hypovolemic shock ever was) and keep our fingers crossed that it wouldn’t happen again.

To absolutely nobody’s surprise, it happened again. It was the beginning of 2007. I was in 3rd grade by this point, which would end up being the last year of public school that I completed. With this episode, the bleeding started right off the bat, so we knew not to let it progress to the degree it had last time. I wasn’t even hospitalized on this particular go-round (although of course I had to go on the diet again, so as far as I was concerned it was equally as bad), and yet, this rather unceremonious event was what started it all. That morning was simply a matter of calling the GI specialist that we had begun seeing after the previous incident, and letting him know that my stomach apparently appreciated tradition. He told us how to handle it, what to watch for, and to call him if we had anymore questions—and then one last aside before hanging up: “Ask if Caleb can bend his thumb backwards toward his wrist.” Since I’m writing this, you probably know what the answer was.

From there was the long, tedious struggle known as genetics, a field of medicine whose appointments only bear two possible outcomes: mind-numbing boredom and confusion for the lucky ones, and then for the not-so-lucky-ones, gut-punching grief and realization. I was sent out of the room for the big diagnosis, and too bored to be suspicious of that fact, but for once, my obliviousness benefitted me. The geneticist, unbeknownst to me until years later, had informed my mother that I most likely would not live to see 13. The diagnosis was vascular Ehlers-Danlos syndrome, and since I was getting such an early start, so to speak, on the more severe complications of the condition, there was evidently no way but down.

But a month or two later, we were blessed with the plot twist that every family dreams of who has received that sort of news: we received a second opinion from one of the most well-known names there is in the EDS circle, Dr. Howard Levy. Dr. Levy told us in no uncertain terms that, while he believed I had EDS, he did not believe it was vascular, even going as far as calling the first geneticist while we were in the room, just to let her know he disagreed. After the appointment, we had the biopsy taken to test for vascular…since I’m still alive to write this, you can probably guess what the answer was.

But still today, there are questions regarding what class of EDS I would most accurately fall under. For one, my form of it manifested internally, affecting the organs, before I began exhibiting the typical symptoms that have come to be associated with the more common types. There is also no family history of connective tissue disease, as far as we know. And, despite the negative results for vascular EDS, my history with internal bleeding still suggested some degree of vascular fragility. To this day, the diagnosis is vague and indefinite, seeming to mix qualities from multiple different types of the disease, and it’s possible that my precise cocktail of EDS qualities is the only of its kind. The next milestone in my EDS journey is meeting with another household name in the EDS community, Dr. Clair Francomano.

While my life expectancy is currently believed to be a bit longer than it would if I had full-fledged vascular type (I just returned from Home Depot after knocking on every one of their wood samples), a more cynical way of looking at that notion is that I just have more years of suffering, more years of complications, and more years of annoying my healthcare providers than the first geneticist had originally estimated. And that’s not a completely inaccurate viewpoint. EDS, while it hasn’t yet taken my life, has already taken my lifestyle. I might be alive longer, but how much actual living would ever take place is dubious.

Vascular EDS or no Vascular EDS, I certainly was never a picture of health. I went homeschooled in 4th Grade, which was particularly devastating to an obnoxious child like me, who was not only an extrovert but a competitive little performer who thrived off of success and external validation. I was essentially stripped of my emotional energy supply (I never even got myself hooked up to the physical energy supply) once I no longer had peers to keep up with or teachers to regularly pat me on the shoulder (figuratively of course, not literally, a literal pat on the shoulder probably could have just dislocated it).

As anyone with a permanently life-altering circumstance knows, I eventually adapted. I began engrossing myself in simpler joys that I still had available: TV, music, internet, and most importantly — what would form the core and foundation of my very being — humor. Comedy became such a prominent and helpful fixture of my life, that it eventually morphed into becoming my purpose as well. I now have delusional dreams of rising above my sorry excuse for an energy level, my sorry excuse for an immune system — and basically just my sorry excuse for a functioning body in general — to become a screenwriter, and ideally provide the same humorous, comforting escape from real life that has kept me sane for over a decade now. Don’t ask me how I plan on going about that (no seriously, don’t; it snaps me back into reality, which is a place I visit as little as possible), but it’s the path that I plan on following. The way I see it, I’m either going to succeed or I’m going to die before I get there. Promisingly, however, I’m such a petty, spiteful person that I’m hoping pure meanness will help supplement what I lack in physical health.


Disclaimer: Each story submitted to The Ehlers-Danlos Society for this #myEDS/#myHSD anthology is published "as-is," with only minimal edits for spelling, grammar, and typographical mistakes. Each profile reflects the personal views, experiences and opinions of the individual authors-and, thus does not necessarily represent the views and/or endorsements, individually or collectively, of The Ehlers-Danlos Society, its leadership, staff, boards, or communities. We can also not confirm any medical claims or comments in the story.

Do you have a story to tell? Share it with us!

Tags: , , , , ,

Categorized in: