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.

Denied.

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.

 

 

Lena Dunham & the fetishization of #hypermobility CW: CSA, abuse, medical trauma

CW: CSA, abuse, medical trauma

In a recent profile in The Cut, Lena Dunham characterized her mixed connective tissue order as making her “flexible” and “the reason she is good at sex.” (She has also mentioned Ehlers Danlos Syndrome previously, though not in The Cut profile. People can have both.)

There are so many problems here it is hard to begin.

First, hypermobility and flexibility are not the same thing, and conflating them harms people with CTD diagnoses and those in diagnostic limbo. It might seem like splitting hairs, but in reality, it can delay diagnosis for years or decades. Hypermobility means joints move easily beyond normal range of motion, often leading to partial dislocations called subluxations, or full dislocations, when the joints must be reduced back into place. Not all people with CTDs experience dislocations, but many do.

Flexibility is in the muscles, not the joints.

As Murray Meetze writes on Uniquely Striped:

As hypermobility goes up, flexibility can often go down. As is the case for me, muscles can tighten while attempting to stabilize hypermobile joints. Many with EDS, including myself, have extremely tight hamstrings, even in childhood, as the hamstrings try to protect the hypermobile spine and joints. Can EDS patients be extremely flexible? Absolutely. But, flexibility is not what doctors should be assessing when EDS is up for diagnostic consideration.

An example of hypermobility:

Karrie’s right arm, extended to her side, with her elbow bent the wrong direction; she has a falcon tattoo visible on her inner bicep

Notice that doesn’t look like “flexibility.” In fact, I am stiff!

In my case, my muscles stiffened up so much over the years that I didn’t realize my subluxations and dislocations even were hypermobility. I thought you had to twist into a pretzel like performers in Cirque de Solei to get a diagnosis. In fact, during my first visit at NIH for a Chiari-Syringomyelia study (a known comorbidity to EDS), I was asked, point-blank, “Are you hypermobile?”

I did not yet fully understand what it meant. I started to tell them about some of my joints (with documented dislocations going back to birth all through childhood & still today), but I feared they would “make me show them how bendy I was” and since I “wasn’t flexible,” they would laugh at me.  It added another two years to my diagnostic wait!

It turns out I score 6 on Beighton (the test used to score hypermobility) now, but a 9 if you had tested me years ago. Some of that change is aging; some is stiffening from syringomyelia and muscle tightness to hold my joints together.

Some folks with CTD are super flexible; some are tight. It is different from hypermobility and not part of the criteria. And yet, many doctors think I am flexible and are surprised how stiff I am. It makes them question my diagnosis, even though an expert geneticist at a dedicated connective tissue clinic gave it to me.

And by the way, connective tissue disorders mean a lot more than hypermobility. For me, it has caused craniocervical instability which will eventually require surgery fusing my cervical spine; an aortic aneurysm and congenital heart abnormalities, including an atrial septal defect; severe pain; loss of function of many joints after so many dislocations; Chiari-Syringomyelia; my deafness that requires hearing aids (hypermobility affects joints in the ears, too!); mast cell activation disorder; unrelenting fatigue; migraines & other headaches, facial pain, TMJ, urinary tract issues; severe digestion problems; eye problems; a lifetime of painful dental issues + a high, arched palate … and the list goes on.

Connective tissue affects every system in the body, so boiling it down to “I’m flexible” erases the real experience of a CTD.

So that is one thing.

The fetishization is far worse. Many of us with hypermobility have dealt with leering & inappropriate comments from medical professionals, strangers on social media, and even intimate partners–as well as abuse that is both because of our hypermobility and covered up by it.

Don’t forget that Dr. Larry Nassar abused U.S. Women’s Gymnastics team members primarily by using Ehlers Danlos Syndrome as an excuse: “One gymnast, Melody Posthuma Van der Veen, claims that he told her she might have EDS because he was able to ‘put his whole hand’ inside of her, the Huffington Post reported in a tweet.”

Lena Dunham seems unaware of the harm she perpetuates with her “makes me good at sex” comment. Perhaps it is her privilege in having access to the best doctors, the best care, and even a huge platform. Most of us do not live like that. Perhaps she really believes it makes her good at sex. I don’t know. For me, it causes pain with intimacy: I can dislocate & sublux in my sleep, let alone during sex. I am not alone.

When I was a child, my doctors knew I was being abused. My father was under active investigation, which is documented in my medical records, meaning: doctors definitely knew. They diagnosed me with PTSD and were highly suspicious of sexual abuse. My parents would shift from refusing to believe my diagnoses–calling them “psychosomatic”–to using them to cover up injuries.

Meanwhile, I caught on at a young age to medical appointments being forensic investigations in disguise. If I talked about the abuse,  I had no shot at epilepsy care. To neurologists, if you have abuse trauma, your seizures must be psychosomatic. Never mind that epileptic & disabled children face much higher rates of abuse. It can be both.

I knew if I talked too much about my pain, I also could be denied my epilepsy meds, as the doctors had long since decided I couldn’t have epilepsy and dislocating joints and pain, etc. (Now we know they are all, in fact, connected.)

If I didn’t talk about the pain, I wouldn’t get care for it, but I might have a shot at keeping my epilepsy meds. But then: no care for the pain!

Sometimes, even I wasn’t sure which injuries & pain were abuse and which were my disabilities.

Which is why Lena’s comments are so dangerous. Some medical professionals prey on this confusion to build careers as forensic experts. One doctor, Michael Holick, works feverishly to diagnose children with EDS to get parents off the hook for abuse charges.

The problem? Dr. Holick never (or rarely) examines the children in person; hypermobility is common in children so diagnosis of EDS usually isn’t made until later; and his theory about bone fractures does not fit well with EDS. While it is absolutely true that childhood EDS injuries could be mistaken for abuse, Dr. Holick seeks & finds EDS in almost every case, with no examination. He also seems to forget, again, that disabled children face higher rates of abuse. It can be both–and often is.

Many disabilities are fetishized and have been throughout history. There is even a word for an able-bodied person who fetishizes disabled bodies: a “devotee.” When I read Lena’s comments, I wondered: Had she ever even cracked open a disability studies text, or read disabled voices who are talking about these issues? She barges in with her huge platform, becoming “the face” of these illnesses, without (it seems) taking time to respect disabled activists, artists, and writers who have been doing the work for disability justice.

For BIPOC people with CTDs, the fetishization and conflation with flexibility can inflict even longer diagnostic delays due to medical racism, as well as greater danger of abuse & assault.

Lena Dunham might have been joking, and there is certainly nothing wrong with using humor to cope with illness, but some jokes are harmful and have real & lasting consequences. I hope she will use her platform more responsibility in the future, but I don’t have much hope.