when the grass isn’t greener: post-diagnosis letdown

Before I got my Ehlers Danlos Syndrome diagnosis, I thought my whole life would change once I saw the geneticist. I pictured a world where doctors believed me, where I had access to treatments & diagnostic testing, and where I would be validated. I pictured myself feeling better, doing more again.

In some ways, it came true. My diagnosis helped me get physical & occupational therapy, which led to my ring splints:

Even better: Suddenly, I “made sense” to my epileptologist. He had long been concerned it didn’t make sense to have epilepsy and Chiari and Syringomyelia. But EDS connected the dots. After a childhood of medical trauma inflicted by neurologists who refused to believe I could have mysteriously dislocating joints and tinnitus and paresthesia and migraines and bipolar and chronic pain and epilepsy (and trauma), I felt like I never had to fear a neurologist again.

Finally, I had what you might call a Unifying Theory of Karrie. I never felt explained before. I never made sense before. My whole world was going to open up.

I found an amazing new PCP (my previous one no longer took my insurance) after I read reviews from fellow zebras online. She tested me for Mast Cell Activation Disorder after discussing my symptoms, and sure enough, I had an explanation for my weird rashes and digestive symptoms. She sent me for referrals, prescribed medications, and I had hope.

But making sense only gets you so far in the United States healthcare system, and the letdown after that initial excitement is real and depressing and hard. Diagnosis is a privilege, to be sure, and I am not denying it. But diagnosis does not mean access. It does not mean belief, either, I am finding.

Insurance cut off my PT & OT after only a handful of visits, and I lost some of the progress I was making. I try to keep up with the exercises at home as much as I can, but I miss the zero-gravity treadmill and my PT’s gentle way of stimulating supporting muscles. I miss the hot wax treatments for hand pain at the OT.

When an angio CT found my ascending thoracic aortic aneurysm, my cardiologist refused to connect the dots to my EDS, even when I brought him research studies. “If it’s not vEDS,” he said, “There is no connection.” But I have no other cause for it: no clogging or hardening in my arteries, no other underlying heart disease. I go without annual imaging, necessary to track its expansion so we can intervene at the right time. “The right time” comes earlier with connective tissue disorder; my aorta is going to be weaker than someone without EDS. Insurance denies the cardiac MRI I need; they might approve it if my doctor would connect those dots.

As for vEDS, the geneticist wants me to come back to rule that out, too, because of the CT scan. It could very well be vEDS, and we don’t know it yet.

I am still fighting for most of my medications–almost all of them denied coverage because my diagnoses are “off label” uses or the meds are non-formulary since they aren’t common.

I have no pain management of any kind. Let that sink in: My joints dislocate regularly and I have a spinal cord condition with no pain management.

I am still being denied coverage for crucial testing, like an EMG to rule out neuropathy or perhaps an underlying condition like chronic inflammatory demyelinating polyneuropathy. My PCP says it’s urgent. My neurologist rolls his eyes. “You can’t have another thing.”

He doesn’t understand that EDS means I may well have many other things.

“EDS doesn’t protect you from other diseases,” I tell him. My gene mutation is not a shield, I think.

EMG denied. Rinse. Repeat.

I asked this same neurologist for an upright flexion-extension MRI, explaining to him the concept of cranial settling in EDS and how Chiari malformations like mine can herniate deeper in the upright position.


Finally, my PCP sent me for one, and what do you know? My Chiari is deeper when upright and I do have Craniocervical & Subaxial Instability. Insurance initially authorized it, then denied it. So now I’m on the hook for the bill.

I paid out of pocket for a long-distance neurosurgeon consult with a renowned CCI expert. He says I need Chiari decompression & fusion from C1-T1. Fusion would look like this:

^Not my imaging. XRAY of cervical spine and skull from back and side; showing rods and screws from C1-T2, from the case study: A Case of Occipito-Thoracic Fusion for Skull Base and Cervical Multiple Myeloma
January 2015
DOI: 10.4172/2165-7939.1000217; image used under Fair Use for educational purposes

I sent the neurosurgeon’s opinion to my other neurologists: They ignore it or downplay it. They don’t believe it is making me that sick to have my skull sinking and sliding, my brainstem compressed. Never mind my Karnofsky score is 40, meaning: I am losing my independence.

Theoretically, I could fly out to the neurosurgeon who wrote the opinion. In fact, he would be my first choice. But insurance would never pay for it, so I’d have to start a GoFundMe, and I will never be popular enough to raise that kind of cash. I am wearing the recommended neck brace for car trips and hoping for the best.

That’s the long and the short of it: I waited 43 years for validation, and I finally got it, and I can’t get most of my treatments or medications and can’t get even a simple test like an EMG — something you’d think makes sense with a spinal cord condition.

I don’t want to discourage anyone seeking diagnosis: It absolutely matters. However, I want others to know the truth of the post-diagnosis letdown, when reality sets in that proving you really are sick doesn’t mean the medical system cares about making you well.