The Unknowable Impact of Delayed Diagnosis

ID: A purple plastic cast on my fat leg.

Six years ago today I received the dreaded purple leg cast. The hope was that my ligaments would heal up tightly after a severe knee cap subluxation a few weeks earlier. It was a custom cast that went from my ankle to my hip and was the only kind of brace that would stay put on my fat, upside down champagne bottle legs. It was uncomfortable, expensive, and unsightly. And, it was the worst thing we could have done for my hypermobile body.

That subluxation was one of many missed opportunities to get diagnosed with Ehlers Danlos Syndrome. The image of that purple cast always makes me wonder about how my life would have been different had my EDS been caught earlier.

At the time, I told the orthopedist it was the third such subluxation in that knee (in fact I’ve had many more that, because I didn’t know about my condition, I didn’t understand that they were, in fact, subluxations). Serial subluxations are in the diagnostic criteria for EDS. As a surgeon he was thinking about surgery, wondering if my ligaments needed to be surgically “tightened” but, he said, there are no surgeons who would operate on someone my size. He noted three bone deformities in the knee that make me prone to subluxation. I’ve since learned that all three are associated with EDS. But he didn’t seem to know that. So, he prescribed the cast, immobilization for 5 weeks, and physical therapy. Of course, now I know the surgery likely would have failed due to my EDS, not my weight.

Still, immobilization for an EDSer is a terrible idea. (Actually, it turns out to be a terrible idea for anyone as it causes permanent damage to the joint capsule.) EDSers are prone to muscle wasting (atrophy). After immobilization, my muscles locked up and I couldn’t bend my knee at all. On top of that, I developed adhesions in the muscles that took months of excruciating massage to work out. And on top of that, I experienced atrophy that took years to recover from. My glutes on that side are still smaller than the other side.

When I returned to the orthopedist, he seemed shocked I had followed through with PT, as though he expected that a fat person could never have had the discipline to actually do physical therapy. He urged me to take extra care of the knee, and cautioned that in people who have subluxed as many times as I have, he sees daily subluxations as a lived reality. What this really means is that he has seen other EDSers he didn’t recognize as EDSers. Sigh.

The damage to that knee is extensive. Some of it comes from EDS (I can manually move that knee cap about an inch to the right), but some of it comes from the three immobilizations I went through as treatment. Though I suppose it is a good thing, that knee does not hyperextend as much as the other because of the damage to the joint. It sounds horrendous when I bend it. I have come to accept that it will never be right and I will probably never be a candidate for knee replacement—not because of my weight, but because my ligaments are like over-stretched rubber bands. The raw materials are no good. It is a question of making do with it as it is.

On the one hand, I feel sympathy for doctors who just don’t know what they don’t know. As a professor, I know that it is difficult to stay on top of all the latest research while also juggling direct service. On the other hand, it is frustrating that the signs should have been recognized because they were so “textbook“ as to be glaringly obvious. Actually, I had another near miss with diagnosis in 2004, 10 years before the purple cast. After developing persistent pain in my foot I saw a wonderful podiatrist who took me very seriously. He sent me for extensive testing when the problem couldn’t be seen on an X-ray. A bone scan showed signs of blood pooling (EDS symptom!) in my feet, and what the radiologist described as “signs of connective tissue disease.” The podiatrist had me tested for autoimmune CTDs, like rheumatoid arthritis and Lupus, apparently not aware of the non-autoimmune CTDs. To be honest, it scared the shit out of me how seriously he took it. When those tests came back negative, he sent me for an MRI that showed a cartilage tear. He thought it was strange but said it would heal and sent me on my way. Though a cartilage tear isn’t exactly textbook for EDS, it is absolutely a sign that my connective tissue is weak. In combination with the bone scan results this was a big flashing red sign. The doc saw it, but didn’t know what to make of it. What if that doctor had known just a little bit more? He was such a good doctor!

But I could go back further, what if EDS had been considered after my second severe subluxation in 1993? At that time, I was quite hypermobile and I also had serious immune system challenges. I certainly met the old Villefranche criteria, but those didn’t even come about until 1997, if I have my history right. Maybe it was too early to expect the average doctor to consider hypermobile EDS way back then.

I try not to spend much time wondering about what could have been. It is what it is. But days like today cause me to reflect on the impact of delayed diagnosis and the role fatphobia might have played in it. If I had presented as the stereotypical tall, thin EDSer would these doctors have considered EDS as a possible diagnosis? Had my EDS been diagnosed six years ago, or 16 years ago, would I have been able to avoid the horrendous cascade of worsening symptoms that started in 2016? Had I started joint stabilization PT in my 20s or 30s, rather than at 40, would my progress have been faster? Would I be in less pain or have better mobility? We will never know. What I do know is that diagnosis matters.

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