Category Archives: Ehlers-Danlos syndrome


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Recently, I had my follow-up visit with the PM&R doctor who agreed to see me after I was diagnosed with Ehlers-Danlos syndrome (EDS), classical type.  I had seen him a couple times prior to that and was originally his patient for my misdiagnosis.  PM&Rs are physical medicine and rehabilitation specialists, and I personally feel they can be a good fit for EDS patients as they specialize in people with chronic, debilitating diseases and conditions.

I originally saw my doctor before my collagen cross-linking surgery and long before I had my scleral contacts that I’m forced to wear when I have to go out and I literally couldn’t see his face or make eye contact with him.  However, it wasn’t solely due to my vision—it was also due to something I didn’t pick up on for awhile.  You see, my doctor has some type of social phobia and does things like stand as far across the room from me as possible, tear through my file like a mad scientist while not really looking for anything, avoid eye contact with me at all costs, and the most bizarre: putting his head down on the counter when we were in a very small room and he couldn’t escape my gaze or me.  So, the faceless doctor image could also be replaced by a faceless patient I suppose, or an image of this patient talking to the wall to not upset the doctor.

Now, his behavior makes any type of interaction rather difficult, but I’m not one to make fun of anyone with a phobia—I just think they should choose their profession better.  For example, as I tend to have panic attacks on airplanes and yes, I saw the news about the triple-7 that is somewhere at the bottom of the South China Sea southern Indian Ocean, I didn’t become a pilot. Perhaps, I would have been an excellent pilot as I’m very systematic and prefer to be in charge, but darn it, I just can’t get over that free fall back to earth.  So, I went into the non-profit sector instead.  I have many reasons to wonder why this man became a doctor, so here’s a rundown of how my appointment goes to justify my thoughts, and mind you that I have to drive about 45 minutes to get to his office with my less-than-stellar vision.

  • I arrive and have to fill out the same form that doesn’t really address any of my issues and is too hard to see and best of all, my doctor never even looks at it.

  • The medical assistant calls me back and then I get to sit and wait in a chair that kills my body in a boring exam room for up to 45 minutes, when I’d be more comfortable in the waiting room with padded chairs and a big plasma TV I can actually see.  Per the wait, I was going to be 5 minutes late once due to an accident and called from my cell (these are things I should not do with my vision) and my appointment was cancelled and then I was slapped with a huge, no-show fee that didn’t go away until I called someone I knew in the office who took it off my bill.

  • The doctor finally comes into the exam room and asks how I am.  How should I respond when I already wrote “the same” on the form?  I’m also in more pain and beyond irritated by that point.  So, I tell him that I’m hanging in there as he doesn’t really care what I say.

  • He doesn’t ask me about my EDS or how it affects me physically.  He doesn’t offer to get involved with my physical therapy to make it more effective, and he writes my scripts for it.  He doesn’t ask how my EDS affects me emotionally, even though I circled on the form that my anxiety has been worse since I saw him last.  I really question how much he knows about EDS, even though he said he was familiar with it before I saw the geneticist a little over a year ago.  He tends to speak in a hushed tone and when a medical student was with him once, I vaguely heard him say that people with EDS are tall. Sure, a subset of people with EDS have a Marfanoid habitus, but I’m not one of them—that was my maternal grandfather.

  • I basically try to think of something to say to make my appointment worthwhile, but what’s the point when you don’t have a doctor who cares or is interested?  I’ve even asked the one medical assistant I like if he’d rather not have an EDS patient since I formerly saw his nurse and now he’s stuck with me, but she said that’s not the case. So, what is the case?  And if you’re wondering why I don’t just go elsewhere, trust me that I’ve been everywhere in this town and this is as good as it gets.

  • I have my few prescriptions written and there’s a problem with them every time, but as my scleral lenses don’t fully correct my vision and other factors affect my near vision, I tend to need help reading them.  This time, he wrote the dosage of one of my drugs wrong, so I would have run out early.  His handwriting is awful even for a doctor and the assistant wasn’t sure what it said for a couple minutes, but then she rewrote it and had him sign it and he asked her what the problem was and she lied and said that the pharmacy would have trouble reading his handwriting which really bothered me, but I decided it was best to stay quiet about his mistake.  On another prescription, the medication was crossed out and then rewritten, so I hope that won’t raise any flags.

  • And that was it!  Nearly an hour of driving, who knows how long spent waiting to see him, five minutes or less accomplishing nothing in the exam room, and 15 minutes of wasted time and frustration dealing with his inability to write prescriptions.  Then, I had to check out with the rude girl who feels so important behind her counter—the same girl who had informed me on the phone that my fabulous nurse had left the practice and slapped me with the no-show fee in the saga that I wrote about in this post.

So, why is he a doctor—especially for patients like me?  I could easily walk into an exam room, naturally not look at people without my lenses in, not offer much help—although I feel I know much more than this one does—and then write poorly written scripts due to my vision just like him.  He’s not much older than I am so the burn-out hasn’t started yet, not that I like that excuse because I knew some great, older doctors back home.  And if you have a social phobia, then go into research, because those of us with chronic, life-altering diseases that will only get worse need empathetic doctors who actually care and can look us in the eye and put their hands on us in order to feel a pulled trapezius muscle, or tendinosis in a rotator cuff, or subluxated shoulder joints, or any of the other things my physical therapist does on a regular basis and all the doctors missed from day one.

If my PT could write my scripts and order the imaging I have to pull teeth to get, I’d just have her be my doctor because it takes a lot more than having the initials M.D. after your name to actually be one.  No one deserves such sub par care when they’re sick and in pain and the worst thing is that I could be writing some semblance of this post about the majority of the doctors that I have and the hundred I saw before them.

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This was my forehead after I spent 8 hours applying a compress to stop the bleeding.  I probably needed stitches, but I couldn’t afford to go to the ER so in the middle of the night, I super glued my forehead together, which is actually better than sutures for my fragile skin.  I heard this method of closing wounds was used during the Vietnam War, so good enough for me.  In fact, I can source that fact right here, although having training as a medic would’ve been helpful at the time.

I wasn’t in a car accident; I was trying to grab my cat’s litter box from under the built-in desk, but due to being visually impaired from keratoconus, I slammed my head into the sharp, laminate edge of the counter top and because my defective collagen makes my skin so weak from Classical Ehlers-Danlos syndrome (CEDS), I split my forehead in half, or however long that gash is.

Now, in the grand scheme of all my problems: living with severe, chronic pain, having a body falling to pieces, dealing with major visual distortion which makes it hard to tell how far away a counter top is, surviving off 6 foods, being semi-homeless and on and on, hitting my head shouldn’t be a big deal, right?  Well, it really is and here are a few reasons why.

People with CEDS, a genetic connective tissue disorder, have defective collagen V, which causes poor wound healing and wide, atrophic scars—also known as cigarette-paper scars—along with 1 million other things.  I think I hit my head 2 weeks ago or so and the scar is looking very purple and keloid-like right now, but if history proves correct, it will keep widening and then the center will turn into thin, papyrus-looking skin—right across the middle of my freaking forehead!

But, that is just part of my little accident.  I apparently hit my head so hard that my brain literally shook.  Yes, it took me a few days to realize I’d sustained a concussion from this thing once I could get back online and Google my symptoms.

At first, my forehead just felt like someone was driving a stake through it, so I went through every bag of frozen veggies in the freezer icing my head.  Then, I got v-e-r-y sleepy and just had to lay down and I fell asleep without Ambien CR for the first time in over 8 years and I kept sleeping like that: in 3 to 4 hour bursts throughout the day and night.

Now, while all this was going on I started to get really nauseous, which isn’t normal unless my pain gets above a level 9 on the Richter scale.  And even worse, the lights were driving me absolutely insane and I got double vision, so instead of seeing 6 of everything like normal, I saw 12. Therefore, I just stayed in this dark, distorted cave in my sleepy stupor with frozen veggies on my head and prayed I wouldn’t throw up, which I luckily didn’t.

Now, how many days was I in the cave?  I have no damn idea. I don’t remember much of anything, other than trying to text someone and not being able to do that at all, not that I can text well in general due to my vision.  I know I posted a draft that I had saved on my blog a few days out.  I also remember contacting my mother, but I’m not sure if that was by phone or e-mail.  I know I was trying to get help and she lives one state over from me and can drive here, but she was too busy getting some cosmetic procedure done to her face to be bothered, so as usual, I was in the cave all by my lonesome, aside from my beloved cat, who really could care less about her litter box being a little stinky I suspect.

To add insult to injury, literally, I got kicked out of physical therapy until I received clearance from a doctor stating it was safe for me to come back, but I had fired my rude and inept GP, so I missed a couple weeks of my much needed PT, not that I should have been doing any exercise, but my brain didn’t seem to comprehend that.  In fact, my brain wasn’t comprehending much of anything.  For example, I did a bunch of labs in December for a disorder associated with Ehlers-Danlos and I had to twist that doctor’s arm to even get him to order the tests for over a year.  However, I couldn’t recall what the tests were for all of a sudden.  How odd: this disorder I had researched in the medical journals for so long had just flown right out of my head.  It definitely started with an M, but what was it called?  Hmmm…

Since the concussion, I don’t sleep with Ambien CR anymore, not that I’m sleeping well and unfortunately, my circadian rhythm disorder is definitely here to stay.  I’ve also made some changes in my life, like deciding to not tolerate rude and discourteous people for 1 second anymore (yes, if you are one of them, goodbye) and getting rid of some useless online activities that were anything but helpful.  Who knew about the benefits of cracking your head open?

If you ever hit your head and anything in this article on concussion rings a bell once your brain is working a bit better, I hope you have the following if you are in the States:

Good insurance
A doctor

My mother suggested that due to my disabilities, such a nasty word coming from her mouth, I should wear the following on my head.  Come join me so everyone will know how special the disabled are and you might just get a trophy, too!

For the 1st time, my home team won the Super Bowl! Go Hawks!

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Years ago, I needed a new doctor for my now misdiagnosis and I found a specialist for that syndrome, which was odd for this city.  He was a PM&R physician and did a very thorough exam, but somehow was yet another provider who failed to realize that I actually had a genetic disorder: Ehlers-Danlos syndrome, classical type (EDS).

I remember that at my first consultation and after my exam, he told me straight out that he had no magic pill for me, but that what he could offer was compassionate care.  It was what I—a patient with a chronic, painful, and debilitating illness—needed to hear, even if he thought I had something else.

No one knows what happened, but a year later, all of his patients received a letter stating that the doctor would no longer be in practice there.  No other information would be given and I was transferred to an associate, but that was the first time I had a complete meltdown over losing a healthcare provider.

Prior to getting sick, I just had the doctors most have and maybe saw them 6 times a year for annual exams, refills of a few medications I took, and then the endless upper respiratory infections I’d get from every cold, which only turned into massive bronchitis because I was too busy working to go to the doctor.  But, things change when you get a chronic illness. I now have more than 20 medications, I have over 10 specialists who largely do nothing for me, and I spend 3 or 4 days a week in some waiting room, which literally makes me sicker.  When healthcare providers become your entire life, and not by choice, losing one is utterly devastating as the process of finding another and dealing with records and forms I can’t see and every other hurdle you have to jump over in the U.S. is an utter nightmare.

I have been to 4 doctors for my EDS, formerly called something else, since I lost the one who disappeared and then the entire practice closed.  They were all inept or rude or left me waiting hour upon hour or all of the above. One, who I absolutely believe was an anti-Semite based on his country of origin and how friendly he was with everyone but me, actually said something so rude to me that a tear fell down my cheek in the exam room, and I wish with all my might that he had never seen that.

Right before my corneal surgery and my diagnosis of EDS last year, I found another PM&R who was willing to see me, as most weren’t interested in the misdiagnosis.  I had come from a rundown and horribly unprofessional practice where my doctor literally walked out the front door while I was waiting for him. I really didn’t know him as he spent maybe 2 minutes with me signing prescriptions and nothing else. The staff were rude and complacent and I was months behind in scripts for physical therapy and they could care less.

I knew this new doctor I had was smart and he actually questioned my misdiagnosis, but he seemed rather uncaring and disinterested by my second appointment like the others. I couldn’t see him well, but noted that he preferred to stand on the opposite side of the room and wouldn’t make eye contact with me as I can see color, like the sclera of the eyes.  If he has a social phobia, then he should have gone into research and not private practice.  It was a place to get my refills and scripts for physical therapy, which is how I view most providers in my life: robotic people who do the basics of their job while I get an extended stay at the Hanoi Hilton courtesy of my broken-down body.

One day, I was told I’d be seeing the nurse as the doctor was busy.  Well, that figured.  Unlike the doctor, his nurse was actually a person and she was friendly and talked and asked questions and was concerned.  So, I became her patient and didn’t see the doctor anymore.  I always took the last appointment since I can’t wake up and am really slow to get ready due to my pain and stiffness, and she would spend over 30 minutes with me and it felt like I finally wasn’t just a number or a nuisance anymore.

We tried a few other medications without much success as usual, she attempted to appeal the insurance issue with my physical therapy being cut-off, she was researching EDS as fast as I was, and since she was from Ohio, she always said she wished she could just stick me on a plane and send me to the Cleveland Clinic because she was so frustrated, and not by me, but for me.  I always left my appointment feeling better, even if there was no magic pill.  I had compassionate care again.

I’m on a 3-month schedule with the practice now and I had an appointment earlier this week.  There was a huge plumbing issue with the central line that affected my bathroom here at the motel, so I was running a hair late, but had enough time to get to my appointment if I drove fast and everyone does.  I get that I can’t see well, but I can drive better than the 20/20 crowd here and had my sclerals in, with enough lubricating ointment to make them somewhat tolerable, but it was like someone smeared Vaseline over the windshield.  The clinic is in a nearby town, so it’s a bit of a drive, but I can do it if I really try since it’s not in the direction of the sun.  What I didn’t expect was an accident on the arterial that leads to the freeway that created a backup for miles.

I called the clinic to let them know I’d be late due to the accident, but not more than 10 minutes, as everyone gives you a 10-minute grace period from my experience.  I was told that the doctor had to leave to meet with his lawyers and so I would have to reschedule.  I didn’t understand and had about gone through the wringer waking up earlier and getting ready and just driving.  I explained that I didn’t see the doctor—that I saw his nurse and I’d never been late.

It was then that the rude receptionist told me she was no longer at the practice.  It hit me like a ton of bricks, and she made up a lie as to why she was gone.  I knew I needed refills soon, so I was pleading with her, and she told me that I was talking in circles.  I just kept trying to be the squeaky wheel, but could hear my voice cracking and then hung up.  I was by a shopping center, so I pulled into the parking lot and just lost it.

How would I find my nurse?  Who could I talk to that would understand how complex chronic illness is?  Who would offer me compassionate care?  Certainly not anyone I currently see and not the doctor there.  My counselor, who is supposed to help me, has been putting me through the Inquisition for weeks and I rip the cuticle off my thumb in every session from the anxiety he’s causing me.  I felt abandoned, like I have felt my entire life.  The feelings about the former doctor disappearing came flooding back, as did everyone else in my life who had betrayed me: my family, my traitorous, best friends, the guys I had been with, the entire world.

I’m tired of this disease and the subsequent vision loss.  It’s been 12 years and there’s no hope.  The cure is not coming in my lifetime and the degeneration will continue—that much I know.  A million thoughts were flooding my mind and I went to a very dark place while sitting in my car, which is not uncommon—I’ve had enough and there is no meaning in my endless suffering.  I couldn’t breathe and was on the verge of having one of my major panic attacks.  I called the only person I know here—the one who gives me rides here and there—and asked that he take my cat, Moush Moush, but he wouldn’t.  I was begging him to take her to no avail and in the end, it was Moush Moush who saved me again, just like I am trying to do for her.  I promised her that I’d never leave her, and I won’t.

Very few people will understand this post.  A healthcare provider is someone most see for an infection or an injury or an acute condition that will either get better or kill you. There’s a gray area where those with chronic illnesses that steal your entire life live, and that’s my land.  I have staked a claim and it’s a lonely place that hurts my body and my mind. My nurse brought more light in, but now she is gone, like so many before her.

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Why does Ehlers-Danlos syndrome (EDS) have to be a freak show disease?  My skin doesn’t stretch enough to be the India Rubber Woman and I’m not hypermobile enough to be the Human Pretzel, but I look like a hybrid of marbled, blue cheese and the Purple People Eater from the venous pattern and purpura and petechiae covering my body from nearly head to toe.  The icing on the cake is the beyond frustrating keratoconus, which turned my corneas into little cones. Alas, the latest problems that have been discovered could surely guarantee me an act in the freak show.

Possible employment?


I’ve been working with my great, new optometrist over the past couple of months to try and get scleral contact lenses, which can correct keratoconic vision to a point by creating artificial corneas in essence.  As I’m post-CXL surgery, the progression of my keratoconus (KC) has been halted and my vision is stable, not that it means I can see well.  The trial pair of scleral lenses had about 3 pluses and a lot of minuses, which I typed up in a list with bullet points for my doctor.  He thought that was very amusing, but in a good way, and it actually helped to narrow down why I was having so many issues with the sclerals, aside from my dry eyes which will prevent me from wearing them daily it seems.

My doctor got down to business getting the prescription just right as it was a hair off and he can get my far vision a little clearer, although that is where things are very good for me with sclerals.  I mentioned in my bullet points that I still can’t see well close-up and that while the T.V. image is crisp, it often has a double image, as do all the illuminated signs at night which makes it hard to drive still and is different from the multiple, faded images I see with keratoconus.  My doctor thought that the better prescription would help, as sclerals work on both nearsightedness and farsightedness.  I wasn’t that positive, though.

I had also mentioned in my list that the intermittent strabismus, or intermittent exotropia to be exact, that I developed when my brain shut off vision to my worse eye pre-CXL wasn’t gone as I suspected.  It reared its ugly head again when I started inserting the new sclerals.  As the contacts are akin to plastic bowls filled with saline solution, I have to use a rubber holder of sorts to put them into my eyes while looking into a mirror laid flat on the vanity with my head parallel to the floor.  It’s really not that easy as the lenses are so huge and I have to hold my eyelids open very wide.

The right contact goes in well, but when I go to put in the left one, I can literally see my right eye turning out—see Figure B in the 1st image—and then my left eye that I’m trying to work with does the same!  In other words, both of my eyes are turned out and it’s a little freaky to say the least.  Now, I’m not making fun of anyone but myself here—I dated someone in high school who had exotropia and it wasn’t the intermittent kind.  Regardless, a scleral lens has to fit over the cornea, so if my left eye has wandered to the far left, out falls the lens and saline solution and then I have to repeat the process 10 more times.  Suffice to say, I’ve been a little late to appointments the last month.

My setup for scleral contacts lenses


It’s a very good thing I made a bullet point about that strabismus issue because my doctor did a couple of tests. He had me focus on a letter on the wall and then flipped something over my eyes in a rapid motion, so that every second I was using either the right or left eye to read.

“You do have strabisumus!” he told me, as he’s always amazed to have a patient who speaks doctor talk. Apparently, the test made my eye turn out as I started to lose vision in my right eye and couldn’t see the letter, only a blank blur.  Yet, I can somehow make both eyes turn out when putting in the sclerals for some odd reason.  That sounds like a freak show act if I ever heard one.

“Great,” I said, as I thought this was just some transient thing from having low vision for 2 years and thus some atrophying of my extraocular muscles, which control the movement and alignment of the eyes.

“Am I going to need surgery?” I asked my doctor. “You know about my scarring issues with EDS.”

He told me, “Not now at least.”

Extraocular muscles–what are lax from EDS and where I may need surgery.


Then, he was on a mission and started rifling through my purse, which is fine as we spend most of the time joking like we’re old friends.  I asked him what he was doing and he told me that he was looking for my phone.  I grabbed my cell and he told me to type a text.  So, I started to and he noticed how close I hold the phone to my face and he pulled my arms down.  Well, that’s not fair.  I knew he was trying to figure out my difficulty with seeing close-up and I mentioned that the screens on cell phones and my blown-up laptop aren’t horrible with my slcerals in, but print text was awful.  That was in a bullet point, but I’ll cut him some slack since he’s my favorite doctor and knows all about EDS.

He gave me the paper I had typed up in 12 font at 200% in Word to read, which now looked very small and wonky.  With the sclerals, the letters tend to move around a bit and make me feel sick; that’s the best way I can describe it, unless it’s very small text and then my head starts to hurt.  He kept putting different lenses in front of my eyes and asking if it was better, but I kept saying that I didn’t notice a difference. I figured this was the best I would ever be able to see if none of the lenses over my sclerals helped.  However, I must admit I like the rows of little lenses lined up in long drawers—it’s all so old-world and I got to wear the opera glasses again for a minute.  You sure wouldn’t get any of this from the optometrist in the mall.


Then, my doctor had me look up and read the paper with the bullet points directly in front of me.  He must have been watching my eyes because he had a rather deflated look on his face when he stopped me.

“You have convergence insufficiency,” he said in a rather sad voice.

“Noooo!” I whined. “No more diagnoses.  What is that?”

He grabbed something and told me to watch his eyes while he brought it closer to his face.

“Do you see my eyes moving?” he asked me.

“Oh,” I replied. “Your eyes are moving inwards as it gets closer to your face.”

“Right,” he told me, “But your eyes don’t do that and they aren’t in perfect alignment in general, either—they both turn out a bit and all of that is causing double vision.”

“So, I have more vision problems than just the keratoconus?” I asked.

“Yes,” replied my doctor, “But convergence insufficiency is not that rare.”

More information on convergence insufficiency can be found here.

Per my eyes not being in perfect alignment, he tried to reassure me that it wasn’t noticeable, but I swear that one eye looked a little off when the KC first started.  I demanded to know if I looked like Jaws from James Bond, and my doctor couldn’t believe that he was the image I associated strabismus with.  Jaws actually had acromegaly and I don’t think he had strabismus.  I should have said Marty Feldman, who was only in my favorite movie ever growing up and does the Abby Normal line I use all the time.  Here’s the video clip. He had strabismus from Graves’ disease, but I see a resemblance, and it’s not just the eyes.  He may have been a second cousin. How long until the freak show comes to town?

Igor in Young Frankenstein–my new, male twin.


My doctor put lenses with prism in front of my eyes and I could see the text, but my head started to hurt.  Prism bends light so that people with convergence insufficiency can see close-up and I could get readers made with them, but my doctor said they can be hard to get used to.  Contacts and glasses are just too much right now.

I remembered that when I had the intermittent strabismus pre-CXL, I did some eye exercises I found online as I was so worried my wandering eye would prevent me from getting the surgery.  I asked if that might help to tighten up my muscles, just like I do in physical therapy for my loose joints.  My doctor handed me a plastic, Popsicle stick with a tiny E on it. He told me to focus on the E and pull it towards my face and then away, which I was able to do.  I will now be doing this for 5 minutes every day, as it sometimes can help, but now I can’t remember with which issue, so hopefully it’s both.

My doctor also confirmed this could all be secondary to Ehlers-Danlos, but that maybe I had had it since childhood like most people.  I never had problems with my near vision or any strabismus before keratoconus showed up, which is around the time my EDS started to affect more of my body, so I’m betting on EDS being behind all of this, or that and and KC combined.

I left with more health matters on my mind and then got a call from the assistant of yet another specialist I need to see as I was sitting in the parking lot of CVS.  How many body parts can fall apart from faulty collagen?  I went in to get my pricey prescription and got $5.00 in Extra Bucks—free money to spend at CVS for those not familiar with the chain pharmacy. I almost make money from all my prescriptions.

Then, I remembered I needed a Popsicle stick, but couldn’t find any, until I found the little freezer that had real, lime Popsicles, one of the last fruits I can still eat.  Eating the lime Popsicle that I got for free in the desert heat made the bad news a little sweeter, especially if an employment opportunity where I can just stand while people gawk at me may be in my future.

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I really thought I had an honorary M.D. after my name by now. I’ve only spent 12 years of my life researching a misdiagnosis, and now a correct one—digging deep into medical journals with such frequency that I only speak doctor talk even if discussing the weather.  Well, apparently I needed a good dose of reality.

After 5 months or so and two or three cancellations by the clinic, I finally had an echo of my heart and saw a real cardiologist.  Omg.  I know, I thought this was America—land of the world’s best healthcare system per the wealthy conservatives.  What was this, that maple leaf country to the north or something?  I had an echo twice in the past 10 years and was told I had trace mitral valve prolapse and mild tricuspid valve prolapse with regurgitation and a slightly enlarged heart chamber as a result.  Well, apparently the cardiologists who interpreted my former echos needed a good dose of reality by way of more CEU credits.

Now, these are both consistent diagnoses with Ehlers-Danlos syndrome (EDS), not that I can find that information anywhere at the moment.  For a broader description of the typical cardiovascular issues that can occur with EDS, click on this link and scroll down to Cardiovascular.  Please keep in mind that Type IV (VEDS), which has a shortened life span usually due to cardiovascular complications, is included in this description.

Regarding cardiovascular issues, I know what a stroke is.  I couldn’t claim to have an honorary M.D. without that basic knowledge.  My grandfather who had EDS had one, but he was a chain smoker.  His mother had one, but she was a rather zaftig woman from photos I’ve seen.  I recently heard some random, first cousin once removed that I never knew of died of a stroke in her late 30s or so, but she’d been a former drug addict it seems.  Did any of these women have EDS?  I have no idea and I really don’t know my mother’s side of the family, with the exception of my late uncle and grandparents.  Then, we have aneurysm.  I always thought an aneurysm was when a blood vessel in your brain bursts due to a weak spot and then you go bye-bye.  I do recall that it is a type of stroke: hemorrhagic stroke.  Due to my very leaky blood vessels, I figured this would be my one-way ticket out of here.

So, what is an aneurysm really?  According to the NIH:

An aneurysm is an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel.


It’s before the artery bursts, if it does.  Well, you learn something new everyday.  In fact, I learned I have an aneurysm in my heart.  It’s in the septum dividing my right atrium and left atrium, or the atria as the docs would say.  I apologize that the septum isn’t labeled in the colorful image above; I think you need to dissect the heart to see it.  The aneurysm is in connective tissue as it’s in a septum—what a surprise, but that means it’s not in an artery if it’s in a septum (see aneurysm definition).  Odd?  What about the deviated septum in my nose?  Now, I always thought that was just a nuisance, but my snotty cousin had to get a nose job on account of hers.  On to more pressing matters, I have a bulging balloon of who knows what size in some connective tissue dividing my atria.  More precisely, I have a congenital heart defect called an interatrial septal aneurysm. What does that mean?

I don’t really know because even though the older cardiologist was nice and knowledgeable and had seen three—make that four—EDS patients in his entire career, he never mentioned the heart defect.  Did it slip his mind?  He even took me to the back to view my echo and was considerate enough to ask if I would be able to see it due to my keratoconus.  I do okay with computer screens if I’m viewing larger images and he pointed out this and that and used doctor talk—oh, goodie.

The cardiologist did tell me my heart was fine, and while I don’t have any prolapses, I do have leaky mitral and tricuspid valves with mild regurgitation, but no enlargement of my heart chambers.  He suggested we do an echo annually to monitor things and due to my leaky blood vessels, I need to stay away from aspirin and omegas and everything I already know turns me into more of a black and blue (and purple) mess.  That sums up the consultation, which was very pleasant aside from the long wait.  In the end, I happened to see mention of the heart defect in the report when I got home as the font was large enough for me to read.

Of course, I hit up the medical journals as soon as possible to figure out what this aneurysm was.  Would my heart burst open at any moment?  I did find a connection with EDS—how could I not?  Here’s what I found, or rather didn’t find, as every site refers to atrial septal aneurysm, so what is the “inter” that is before “atrial” in my report?  I did read a non-scholarly article that referred to this septum as interatrial, so are they synonyms?  Where’s a medical thesaurus when you need one?

An atrial septal aneurysm (ASA) is a rare but well recognized and localized saccular deformity of the atrial septum that bulges into the right or left atrium with uncertain clinical significance. Although these abnormalities are considered clinically benign entities, they have been independently associated with ischemic stroke. 


Ischemic stroke?  I went right past the benign part.  Wouldn’t you just get a hole in your heart if that thing ruptured?  Well, that’s what medical school and those residencies are for.  I do believe an ischemic stoke is what my grandfather had, not that it killed him.  He just had a miserable downward slide until he died from pneumonia after his electric scooter tipped over, shattering his hip and leg due to early-onset osteoporosis—the latter presumably due to EDS.  So, what will it be?  An ischemic stroke or a ruptured aneurysm in my brain due to my weak and leaky blood vessels as presumed. Blood thickeners or blood thinners?  The doctor said taking vitamin K would probably be beneficial when I asked, but what about the ischemic stroke risk?  It’s the ol’ Catch-22.

Maybe I should just start smoking, but then I’d have to go out to the freaky parking lot with the wandering junkies and it’s nearly 120°F here and it doesn’t cool down at night.  I possibly used to smoke years ago and may have enjoyed it. Something menthol-y rings a bell.  Lately, cigarette smoke makes my nose stuffy and my eyes burn, not to mention all those wrinkles and other bad stuff, but my grandfather smoked like a chimney and lived to nearly 80.  Oh, what to do when you can’t be healthy even if you try?

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Getting a diagnosis for a chronic illness is everything.  It does not mean you will get better per se, but you finally find that weird box that all your symptoms fit into and some solace comes from that.  When I connected the dots after getting keratoconus and stumbled upon Ehlers-Danlos syndrome (EDS) and had my “Things that make you go hmmm” moment and then got a diagnosis of EDS type II (classical type) confirmed by a geneticist, it all made sense. I have zero doubts about my diagnosis and personally, I think my textbook case should be used in the textbooks so doctors can learn to connect the dots, as well.

It seemed like a closed case 6 months after my diagnosis, but EDS is a genetic disease—in type II it is autosomal dominant—and aside from those who are born with it via a spontaneous mutation, you only need one parent to carry the gene and the chance the affected parent will pass that gene on to their offspring is 50%.  Flip the coin.  It is quite clear that EDS type II came from my mother—who has a rather mild form but some obvious type II symptoms—and she inherited it from her father, who had a more severe case. This is documented in my genetic report.  More information on classical EDS (types I and II) and basic, genetic information can be found here.

Just to up the ante, I do not have a good relationship with my mother.  She never bonded with me, I have little recollection of her from my early childhood, and then have awful memories of her from around age 11 on as my father took an emotional hike and I got stuck with her until I decided that chillin’ in skeezy, 1980s, downtown Seattle at 13 via a bus pass and living with friends was a better option than dealing with my mother and the dysfunction in my home.  As an adult, she was a chronic burden, and I got stuck raising my younger brothers for awhile when I was in college due to her inability to do so after my father divorced her.  Then, I had to deal with her chronic phone calls for no apparent reason while at work during my pre-illness, workaholic, career years.  She was a ball and chain tethered to my ankle for too many years to count and she was supposed to be the parent—not I.

Once I became sick, things deteriorated further with my entire family and her lack of ability to be a mother was more apparent than ever.  She did take advantage of my illness to bolster her poor me story, however, which is the only story she seems to tell.  She has many acquaintances, but no close friends due to her closed off nature, yet in time her entire circle knew about her hard knock life due to her sick daughter, although they had no idea that she did not even have a relationship with me. Nonetheless, this became her story for over a decade as it apparently worked for her—ol’ Johnny One Note.

Suddenly, however, things began to change once I got a diagnosis.  My mother revealed more and more EDS symptoms that she had, which she previously dismissed when I inquired about them for myself.  She would call my cell and not pick arguments with me for the first time in my life and while she is a passive listener who never has any suggestions or advice, at least she was not verbally abusing me on the other end of the phone.  Dare I say she had a guilt complex that my 12 years of torturous pain, illness, and now impaired vision—not to mention losing my career, financial security, and entire life—were all from her defective genes? After all she had done, or not done, for me—I do not hold her responsible for giving me EDS.  She did not even know she had it herself and we thought a lot of my grandfather’s symptoms were from his rheumatoid arthritis.  Who would really know about Ehlers-Danlos back then?  Most doctors still do not know what it is.

Well, all good things come to an end, of course.  My mother, who is passive and does not have a voice of her own or an opinion on anything for the most part, was just trotting around China with my step-father, a retired physician, as they take extravagant vacations a couple times a year.  She does not have a clue about medicine or medical research, let alone how to use a search engine or a library.  Somewhere on the guided tour in China—so typical they take tours—she met all sorts of new friends from Australia.  Note that making new friends is her entire reason for living and then she needs to tell everyone about how popular she is.  Obviously, my mother told the sob story to her new friends.  Well, as a result, she soon learned—possible over a lunch of pricey, shark fin soup—that one of her new BFFs had Lyme disease and my mother hung on to every word.

Let me preface this by saying I was tested for Lyme disease twice within the last 10 years, although it was the test that is not very sensitive.  I had a couple of positive antibodies each time, which is not uncommon, but when discussing if we should order the pricey, sensitive test the second time around, my doctor and I decided to pass as I had no symptoms of Lyme disease, never had a bullseye rash, and the tick that carries it and transmits it to humans is very rare in any area I have lived in or traveled to.  If I look at the symptoms of Lyme disease even now, it is so far out in left field I would never consider it.  Therefore, it was crossed off the list.

My mother knows my EDS symptoms, or at least I told her what they were a thousand times.  The more I research EDS type II, the more and more it fits.  How she heard this new BFF describe Lyme disease and then came to the conclusion that this is really what I have and that my textbook EDS type II is all wrong is beyond me.  Was my Johns Hopkins-trained geneticist having an off day when I saw her, as well? Now, I would so love to blame this on her lack of knowledge on everything aside from shopping, lunching, and throwing parties with lots of pricey alcohol, but I suspect she decided to play doctor for a reason, without the honorary medical degree I have acquired after more than 10 years of hardcore medical research on the wrong disease: my misdiagnosis. Why would she even be interested in my health when she never was before—and now that I have a clear-cut diagnosis, why would she question that?

It is so obvious, after all.  It is all about her, like it always is. She gave me a genetic disease and now she is not able to tell the sob story without implicating herself in the process. Instead of acting like a mother who offers support or even someone who can relate to a couple of my symptoms as she has the same disease, even if in a non-disabling form, she is now set on finding a differential diagnosis in order to not be the one responsible for my illness and disability.  That is precisely why she was never a mother to me and never will be, not that I would have a clue what having a mother is even like.

The final stage of the five stages of grief is acceptance.  It seems that a genetic disease, as opposed to my former misdiagnosis, would be a hair easier to accept.  There is literally nothing one can do to prevent it, so it removes all of the, “If only I had done x, y, and z.”  Yet, how can I learn to accept all that has been put on my plate if some people cannot even accept the diagnosis?  I would so love to put my mother on the next cargo ship back to China, but as she cannot do anything on her own, I presume she will fall overboard, be eaten by sharks, and then be ladled out as shark fin soup to the next round of wide-eyed tourists savoring the exotica in Hong Kong.

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I live in a weird city with weird people.  I also live in the ‘hood, which is an ethnically diverse mix of undesirables and makes it even more interesting.  It’s not the South Side of Chicago by any means.  The Southwestern U.S. was largely developed in the latter-half of the 20th century, so imagine rows of mid century, rundown strip malls filled with liquor stores, pupuserías, laundromats, payday loan shops, and taquerías jammed between big box stores and junkies roaming around every parking lot trying to hustle a buck off you.  Due to my low vision, lack of rides, and the sun setting later, I’m stuck attempting to drive during the day, which has forced me to access the medical care in this stellar part of town whenever possible.

I have needed an X-ray of my spine since I got sick 12 years ago, as I have a bizarre vertebra jutting out to the right in my lower cervical spine and mild scoliosis in my thoracic region, combined with unrelenting back pain from Ehlers-Danlos syndrome (EDS).  I finally got my new PM&R doctor to refer me to an imaging center and I found one within a mile of where I stay.  It is also the only place that takes appointments, so I wouldn’t have to sit for 3 hours, which really hurts.  I called and asked for the latest appointment, which was at 4 pm and the receptionist told me the X-rays would be taken at 4:30 pm—typical of how imaging centers work so that everything runs on schedule.

As I have difficulty filling out forms due to my vision, I picked them up a week prior so I could take my time and fill them out in the best light.  It took me about 1 hour to find the place as I can’t read building numbers or the signs that say what is in the buildings.  Just trying to drive is enough of a nightmare. After numerous attempts and driving in circles, I eventually went into the right building and found the center, but it was closed.  I tried another day and finally got the forms.  It’s part of life with keratoconus, so I didn’t make a big deal about it, although my low vision made me rather depressed that day.

This Friday, I had my appointment for the spinal X-ray.  I was running almost-on-time, but got there 1 minute late and had all the forms filled out already.  I gave the front desk woman the forms, with a brief explanation as to why I already had them, handed over the necessary cards, and was told I was after Barbie Big Boobs—a typical look in the ‘hood due to all the strippers and hookers—I mean escorts, and that it would just be 15 minutes or so.  Wonderful!  I didn’t have to wait 3 hours like I do at the eye doctor or would be doing at the walk-in imaging center across the street.

I wasn’t feeling well as I’d pulled several muscles that go from my ear down to my shoulder joint in my sleep (again) and my whole body aches chronically in general.  It’s all a typical day with EDS.  I just wanted to get the X-rays over with as I had to get my brake light fixed and then go to the pharmacy and blow more cash (again).  I also hadn’t slept much due to the steroids I’m on (again), which doesn’t help anyone out.  Yet, I complained to no one and had my smiley face on while I took my seat.

There was a woman in the waiting room I’ll call Misty, a creative, white-girl name like her real one, who was blabbing with her friend on her cell phone in a very loud and annoying voice and using words that were definitely not appropriate in a small, public place.  I could sort of make out her face and she looked like the dog above.  As a disclaimer, if your name is Misty, don’t take offense.  I know a woman named Tiffani—that is an i at the end—who is nothing like her name.

Suddenly, Misty got off her cell and began to yell at the front desk woman from her seat.  It appeared her complaint was that she had an appointment on Sunday for an MRI, but they had called to let her know there was an opening on Friday if she would like to reschedule.  Obviously she rescheduled, as she was sitting a few seats to my right.  She went on and on about how she was told her appointment was at 4 pm, not 4:30 pm. She told the front desk woman to, “tell the guy in the back to hurry up,” which the front desk woman stated she couldn’t do. She also added that the MRI of her back would take 2 hours and she couldn’t be there all day.  That’s amazing as I’ve had an MRI of my back done in 30 minutes or so.

She demanded to know who had told her to come in at 4 pm as she had stuff to do.  The woman calmly told her it was someone in scheduling.  Misty demanded she give her the phone number and she whipped out her cell phone again. She seemed to think her cell phone was akin to a Glock 9.

Someone must have answered in scheduling and Misty said she wanted the supervisor.  She abruptly had a calm, quasi-professional voice, aside from her confusion of past participles as she stated, “I wouldn’t have drove all the way over here to wait 30 minutes.”  It’s driven, Misty, driven!  She went on and on again about her predicament and was so infuriated that her appointment was really at 4:30 pm. She told the supervisor how the front desk woman would do nothing and wouldn’t even go to the back and tell the imaging guy to hurry up, despite her asking.  She had a fondness for ending every sentence with, “You know what I’m saying?” and there were a lot of uh-huhs on Misty’s part as the supervisor must have been trying to appease her. She just felt so special that someone was listening to her sob story.  Did it ever occur to her that she would be waiting 30 minutes on Sunday, as well, if she hadn’t rescheduled?

Now, I am one who often jumps into weird situations in this weird city in a “What Would You Do?” scenario, but I just decided to sit there with my finger in my ear in attempts to block out Misty’s ranting and hope the tech would soon be done with Barbie Big Boobs, who was also there for a spinal X-ray, presumably due to her Super Size implants causing an achy back or possibly her 6″ stripper boots throwing her off balance.  Poor thing.

I couldn’t help but take stock of my situation at that moment. How many hours of frustration did it take for me to get and fill out the forms due to my low vision?  While sitting in the waiting room, I wasn’t able to see the TV or read a magazine or do much of anything.  I still had a racing heart from driving there in daylight and pulling a U-turn on a major thoroughfare and praying there weren’t any oncoming cars that I couldn’t see.  I kept rubbing deep into the knots in my neck and shoulders and wishing that for once in 12 years the pain would stop.  I was worried about what else the X-rays might reveal, as I already have 2 troublesome spinal issues.  I spent over $13,000 USD on medical bills last year.  I live in a motel due to being broke, on disability, and other factors.  Unlike Misty, I have no friends to call on my cell phone, which is actually good as I don’t have many minutes. It’s not a smarty-pants phone and I don’t pretend it’s a Glock 9.  I wasn’t complaining to anyone about anything.  I just sat there in the distorted-looking room while forced to listen to Misty’s temper tantrum over nothing.

Finally, my name was called and I got changed and went into the X-ray room.  I had to pose in bizarre and uncomfortable positions over and over and then lie on a hard table that hurt my whole body while the tech continued to manhandle my achy self in order to straighten me out while my barely 100 lb, skin-and-bones body tried to stay covered in an XXL gown, which was all they provided.

If your female body is half-exposed due to being underweight from a genetic disorder that takes away your ability to eat and digest food and the gown doesn’t stay on because you’re 1/3 the size of the average American male, then that’s your own fault I guess, but I didn’t complain and I just kept trying to cover myself up while making a joke about it.  I am quite sure the imaging guy was disappointed he got stuck with short Olive Oyl after X-raying flirty Barbie Big Boobs with her head of platinum extensions and perky bustline.  I could be legally blind and spot all that.

I was finally done after 20 minutes or so and as I headed out, I could see that Misty was gone, unless she gave up the corner seat to go have a slim n’ sassy Misty cigarette. Apparently, the important stuff she had to do really was top priority.  I could only imagine what choice words she said on her way out.  The front desk woman was now blabbing on her own cell phone—such professionals here, but I needed to make sure the report was going to my referring doctor. She looked up my name and said it would be sent—all while her friend was on hold.  I told her I hoped she had a better day and was sorry she had to deal with Misty, which she appreciated, so I did my good deed for the day.

Here’s what I would love to know.  What was so tragic about Misty’s life that she had to throw a barking, hissy fit over something so idiotic and ruin everyone’s day?  Who doesn’t wait a minimum of 30 minutes for anything in the U.S.—especially when dealing with our healthcare system?  What gives anyone the right to talk to an innocent party in such a demeaning way and disturb an entire waiting room due to their need for attention?  This is not appropriate behavior and makes it harder for cordial patients, like me, to get treated with respect when I finally do find functional healthcare.  There are standards that are followed in any medical center and this issue didn’t warrant any complaints. Of course, there are times when it is necessary to take a firm stance to get things done, but this didn’t fit the bill and it’s not how a decent person takes care of business, regardless.

If the Mistys of the world really want something to complain about, they should walk in my shoes for a day.  I can only wear flats due to EDS, which may make it a little easier, but I doubt they would last even 10 minutes.  Bark, Misty, bark—it isn’t going to get you out of this one, either.

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I am not aware of when my father’s irrational fear of death and disease began, but it became a part of my life in the late ’70s, around the age of 5.  I was an only child then and while I have a long memory, I have little recollection of my mother, who did live in our home.  It was my father who raised me and spent time with me on the weekends during those formative years of my life.  He taught me many lessons in hopes I would become like him, something that would turn against my father in due time when I stood up to him as a young child—an act that I do recall my mother was incapable of doing.  Nonetheless, for as similar as we are, I never acquired this phobia—this duality within his being—that has controlled his life for so long.

People suffering from thanatophobia are so preoccupied with death or dying that it begins to affect their daily lives. They may even develop other disorders as they try to cope with their phobia, such as obsessive-compulsive disorder or hypochondriasis.

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My father owned a company and preferred to have an office at home.  He was a typical workaholic and if he weren’t at his job sites, he was working away in his office in our daylight basement, either on the phone, looking at blueprints, or crunching numbers that he wrote in ledger books with an electronic calculator not far away—all while talking to himself and making color-coded lists with a large, ballpoint pen with 4 colors of ink.  He even had refills for each color and this was all drilled into my head at an early age.  Hard work, logic, accounting, lists, and productivity—this is what mattered in life. In all honesty, this was the more normal side of him and I believe his work controlled his obsessive thoughts, even if he looked like some sort of mad scientist working in that small room late into the night.

Way back when, my father could never have imagined that I would get a debilitating, chronic illness as a young adult.  I had followed in his footsteps and become a hard-as-nails workaholic like him, until that fateful day when my life unraveled and I no longer could be.  I often felt that I was the mirror in which my father saw all of his fears staring back at him.  He was so unsupportive and we eventually became estranged.  How could a man—whose only comprehension of disease was through an irrational phobia—have any empathy for a sick daughter?  He had a duty as my father to be there, just as I had for him.

It all began when I came home from school one day to a quiet house, as if no one were home.  I heard my father’s voice calling me from the large master suite at the end of the long hall that ran down one side of the foyer.  I found him in bed with a blood pressure cuff on his arm, something he kept in the drawer of his nightstand which I never understood.  He spoke in a strange, calm voice, which was not his normal voice and I presume he reserved this voice for his deathbed moments.  He told me, “Call the operator.  Tell them your father is having a heart attack and tell them ‘no sirens.'”  So, I did.

In an emergency, police, ambulances, and firetrucks are required to use sirens and lights for safety, so they all showed up as if the house were on fire and parked in our big, round driveway.  I had been waiting for them in the foyer and looking through the glass of the double doors to our house.

I don’t recall having any emotion about this event.  I don’t believe I was worried that my father was really dying.  He was probably 35 at the time, although that was old to me.  He had quit smoking, ran and went to the gym almost daily, and wouldn’t allow any meat in the house—hardly someone to be suffering a cardiac arrest.  As a rather shy child, I just think I hated having to call the big, scary operator.

Soon enough, the paramedics made it up the stairs and I opened the door.  They asked where my father was and I led them to the master suite.  Who knows what went on in there, but they left soon enough and that was that, until the next time it happened.  The strangest thing was there was a phone on the nightstand on my father’s side of the bed, so why did I always have to call?  Was this another lesson he was trying to teach me?

The blood pressure cuff never went away, but a new medication seemed to help some with his fear of dying until the phobia took a new turn.  He began to get diseases that he never really had symptoms of, but his doctors would give him a diagnosis of one bizarre thing after another, which I presume was in attempts to get rid of him.

In the late ’80s, he decided to become a skier.  There are several ski slopes near Seattle, so we—which now included my much younger brothers—had to leave cold, rainy Seattle and go to a freezing, snowy mountain for the entire day.  My weekends were ruined, but my father was in his element in the Wide World of Sports, while I hid out in the lodge listening to my Walkman and drinking hot cocoa.

That was when Raynaud’s entered my world.  My father would chronically complain about his freezing hands and buy box after box of “hand warmers” to shove into his gloves. His only symptom was cold hands, yet a doctor told him he had Raynaud’s, so Raynaud’s it was and the whole world knew about this in time.  I’ve seen what Raynaud’s looks like; it’s a disorder of the vascular system, often a result of auto-immune disease, and usually causes the fingers or entire hands to turn purple.  His hands were olive, the same color as the skin on the rest of his body.  Eventually he got bored of skiing and the Raynaud’s simply disappeared.  Maybe he just needed some warmer gloves.

Then, the horrendous vertigo came in the early ’90s.  He justified this by saying my grandfather had episodes of vertigo and it was genetic.  So, he was back on the deathbed, a tragic recipient of his father’s faulty genes.  It was all so familiar, except this was several homes later and my parents had divorced.  I was living with my father in his “bachelor pad” condo, as I was in college and my part-time job wouldn’t cover rent.  It was back to square one: just the two of us, the deathbed, and the blood pressure cuff in the drawer of the nightstand.

I’d stop home after school to eat and get ready for work and hear that weird voice from the master bedroom.  He was sure he was dying of some horrible disease; I think 911 had blocked his number by this time.  He went from doctor to doctor for his dizzy spells—it always amazed me that he could get himself to the doctor when the world was spinning in circles.

Finally, he was told he had Meniere’s, a disease of the inner ear, although he only had one symptom of it: vertigo.  He told the whole world about his Meniere’s, just like he had with the Raynaud’s and whatever else I’ve forgotten.  It’s odd that all his mystery diseases are named after long-dead, French physicians, who I think became imaginary friends in a sense. He still had to “take to the bed” due to his vertigo and was apparently still doctor shopping, since he couldn’t be stuck with this imaginary friend forever.  He had a life, after all.

At last, a new doctor gave him a differential diagnosis: ear rocks!  Now the whole world had to hear about the ear rocks and how they had turned his entire life upside-down.  Soon after his diagnosis, the vertigo just disappeared as fast as it came on.  That was also the last time I ever lived with him.

In the 2000s, when I got sick, the phobia morphed into extreme preventative medicine, probably due to the internet and his progressing age, unless my sudden illness became a grim reaper of sorts.  This continues today, but has regressed to his original fear of death, coupled with his current obsession with living to 100 without any health problems.  For years, he’s devoted much of his time to supplements, extreme diets, continued running and trips to the gym, body scans, 23andMe genetic testing, scopes of all kinds, stress tests, routine visits to the city’s best cardiologist—although he still has nothing wrong with his heart, pharmaceuticals, plastic surgery to assure himself he is younger than his real age, and who knows what else.

Everything, it appears, can be prevented.  No disease is incurable.  It all boils down to hard work.  The duality within him—the phobic and the workaholic—had created an obsession with immortality.  Where does that leave me—who has an incurable, genetic connective tissue disorder impervious to this ideology and that so severely affects my life?

I spoke with him recently, which is a rare event, and we discussed all the hard work I’m doing between physical therapy and the gym.  While things are better between us due to my new, correct diagnosis of Ehlers-Danlos syndrome, at the end of the conversation he still had to add, “Hopefully all your hard work will make things better.”  It wasn’t the blind optimism that bothered me—it was the lesson, from so long ago, that hard work was all that mattered and I could overcome this if I really tried, a message I’ve heard a thousand times before.  My body is marginally better than it was, but the pain is the same and what I have is real.  I know the prognosis.

I may be my father’s daughter, but I’m a realist and phobias and unrealistic expectations don’t control my life.  It is what it is.

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I recently created a concept I refer to as the Disease Swap Meet.  It’s as simple as it sounds.  Pay a buck, get in, and find a stall with a disease you want to swap yours for.  Step right up.

I had a few things swirling in my mind and while I did coin this term, its origins come from two distinct concepts I crossed paths with since becoming sick in 2001.

One is the bargaining stage of the five stages of grief, originally reserved for terminally ill patients.  It is now used with the chronically ill, as well, and is officially known as the Kübler-Ross model.  In summary:

Characteristics of the Bargaining Stage

The bargaining stage is characterized by attempting to negotiate with a higher power or someone or something you feel, whether realistically or not, that has some control over the situation. You may make promises…in return for the painful situation not to occur or for things to go back to how they were before the loss or change, according to Kubler-Ross and David Kessler.

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Like many, I didn’t go through all the stages of the grief process and the ones I did go through—and continue to go through—occurred in no particular order.  Regardless, I was in the bargaining stage for about 8 years, although in my mind it was more of a swapping stage.  After one of my imaginary swaps happened to my beloved cat, I put this whole concept on the shelf for a while.  Superstition.

The other origin came from a TV show I saw years ago, which featured Michael J. Fox discussing his early-onset Parkinson’s disease.  A question I no longer recall elicited a response I’ve never forgotten.  He was saying something to the effect that when someone gets a disease, a familiarity with their illness develops—as if it becomes part of who you are.  He explained it further by providing an example.

He said—if I recall correctly—that if a big circle were drawn on the floor and everyone put their disease in the circle, but with the catch that they had to pick a disease from within the circle in exchange, they would take their own disease back because they knew how to deal with it.  Essentially, they would not swap out their disease; rather, they’d keep the one they had based on familiarity.  I watched him say this through every twitch, jerk, and tremor of Parkinson’s.  No way.  I wanted a swap.

I learned the five stages of grief and watched this show while carrying a diagnosis of severe fibromyalgia, although I would find out years later it was a misdiagnosis.  I got the misdiagnosis in Southern California, where I had ended up living with my mother and step-father in January of 2003 since I could no longer function in any capacity in Seattle.  I had been climbing the career ladder and was a full-time graduate student with honors when my health took a nosedive one day in the fall of 2001, when I was a mere 27 years old.

Southern California is the Mecca of swap meets and I did manage to go to a few as the hot, dry air near Palm Springs offered some relief to my pain.  They are strange places with strange people—mazes of stalls filled with drek and snake oil salesmen.  The Disease Swap Meet really isn’t too far-fetched in my mind.

The doctor who diagnosed me—a rheumatologist—seemed good and ran a lot of blood tests and ordered MRIs of my brain and spine.  My presenting symptoms at the time, which simply started one day and spread like wildfire, were severe, widespread musculoskeletal pain that made me vomit most of the day, large and painful knots within the muscles of my upper back, shoulders, neck, and jaw, joint pain in my hands and feet, numbness and tingling of the extremities, extreme weight loss, some lupus symptoms that were gone by then: malar rash and a positive ANA, episodes of hives and allergic-type rashes, severe hair loss, and chronic insomnia.

The diagnostic tests came back normal and since he didn’t focus on my joints and I hadn’t yet developed skin or corneal abnormalities, he diagnosed it as fibromyalgia—a junk diagnosis in my opinion—simply to give it a name.  From there, I was a fibromyalgic and devoted my time to learning all I could about this neurological disease and trying to figure out how to get rid of it.  I had just turned 29 and had a life to get back to.  What was the misdiagnosis exactly?

Fibromyalgia syndrome (FMS) produces chronic body-wide pain, which migrates and can be felt from head to toe. Other symptoms include persistent fatigue, headaches, cognitive or memory impairment, morning stiffness and non-restorative sleep. The pain can migrate from day to day. Recent scientific research studies have shown central nervous system involvement in FMS.

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I can’t say it was a perfect fit for my symptoms.  My doctor also failed to tell me a few things back in April of 2003.  He didn’t tell me that in America, fibromyalgia is considered to be a psychological disease by most doctors and now that the general public has heard of it, they have jumped on the same bandwagon.  He didn’t tell me that when I moved to the city I live in now, I would have doctors refuse to take me as a patient or have people tell me to my face that I have a fad disease or that it can’t really be that bad.

I had no idea what this misdiagnosis would do to me emotionally over the next decade as a result of the stigma it carried.  I did know it was a neurological disease, just like Parkinson’s.  No one questioned Parkinson’s.  Why did they question me and treat me so poorly?

Then the anger came, especially as my body got worse and the few doctors who would treat me offered no answers.  I saw psychologists who found no evidence of any mental disease—I was simply mad as hell.  I would destroy the nasty condo I was renting and stuck in 24/7 due to my illness and inability to work.  After my rage, I was left to clean up the mess of broken glass and chairs thrown across the room and whatever else had been within my reach.  I punched the walls until my knuckles gave out.  Why did I bother?  No one cared about the sick girl with the make believe disease.  The entire world had abandoned me—a feeling I had known since I was a young child.

I wouldn’t even give my illness a name in due time.  I got so tired of the ignorant comments that I told people I had severe arthritis to shut them up.  I became a complete recluse and made sure no one could find me, especially online where people from my past could see how the 4.0 workaholic had to drop-out of grad school and was now living off disability and handouts in a motel by the airport in the crappy Southwest.  I still continue to live like someone in the Federal Witness Protection Program: hardly anyone knows my phone number or my e-mail and aside from a P.O. Box, I have no connection to my legal mailing address, except that I know the person who lives there.

I hated fibromyalgia.  I hated how my body betrayed me.  I hated my lost life.  I hated having a disease that people thought was all in my head.  I hated dividing my time between the doctors who threw medicine at me that did nothing or just threw me out of their office for having a disease they didn’t believe in.  I hated how horribly I was treated by my supervisors when I tried to keep working.  I hated that I no longer had friends or a social life.  I hated the monotony of doing nothing everyday.  I hated living with chronic pain and more and more symptoms that doctors just dismissed.  I hated my dysfunctional family and the fact that I had no support because of this disease and was just left to fend for myself, as usual.

This was no life and I wanted a swap.  I could care less about how intimately familiar I was with it and had no time for Michael J. Fox and his overflowing optimism.  I wouldn’t swap it for ALS, but if it were considered a real disease and I could be somewhat functional again, I’d take it.

Then, just 2 months ago, I got to go to the Disease Swap Meet for real.  It really does exist!  I finally got to swap diseases, but not in the traditional sense.  How so?  I got a correct diagnosis after 12 years of being sick.  Even if I ended up at the misdiagnosis stall—a swap is a swap.

If I hadn’t developed keratoconus and known how to do medical research, the stars wouldn’t have aligned and led me to the geneticist who diagnosed me with Ehlers-Danlos syndrome (EDS), which I’ve written about before.  EDS, says my geneticist who trained at Johns Hopkins—the best medical center for my disease—explains everything and why my symptoms no longer even vaguely fit the misdiagnosis I was given so long ago.  Good bye, fibromyalgia.  I won’t miss you.

Very quickly everything seemed to change, even though my symptoms were the same.  The Disease Swap Meet concept really worked!

First, there were the doctors.  The geneticist called two of them after the official diagnosis.  The rheumatologist, who had dismissed everything for years, was apparently very interested that EDS was behind my myriad of symptoms. He should have connected the dots due to his specialty.  No need to see him anymore!  My new PM&R doctor, who thought the fibromyalgia diagnosis was wrong when I met him and wanted to look into it, is familiar with EDS and has no problem continuing with my care.  Wonderful!  As a bonus, my great physical therapist, who helped start this journey by freaking out about my shoulder joints when I met her this summer, has some tricks up her sleeve to help my EDS symptoms.

Then there was the family, none of whom live near me.  After years of being discarded, yelled at, and told I needed an institution to deal with my psychological disease, they started to e-mail me inquiring about my eyes, which are still healing from cross-linking, and other specific health issues due to the EDS.  Quite interesting.

Is this what it feels like to have a disease that physicians and the general public believe is real?  Is this why people with Parkinson’s get the sympathy looks and I would get a lecture or worse?  What a great swap!  I’ve been sick for so long I no longer remember normal, so it’s good enough for me.

I started to notice my whole attitude was changing.  The anger was gone and this clarity and sense of peace came into my life. I’ve always been funny, but for years I hid behind my humor due to this experience and suddenly I was beginning to really laugh again, even if it’s at something funny I’ve said to myself or to my cat.  I’m also less worried about talking to people now.  This was always a fear because the first thing they ask is: what do you do?  How could I explain that I can’t work due to a disease no one thinks exists?

For 12 years I played the blame game: “If I just hadn’t taken that job in the sick building, I never would have gotten sick. I’d have finished graduate school and be running my own non-profit by now.”  That building was disgusting, but EDS is genetic—it’s in my DNA and no matter what I did, I would have gotten sick.  No one can blame me, not even me!  I was a ticking time bomb and that was that.  A weight was lifted off my shoulders knowing I couldn’t have prevented this.

The cloud of shame from the misdiagnosis was blowing away.

Now that I know that my body really is a degenerating mess due to a connective tissue disorder and I don’t just have a pain processing problem, I feel I have a wee bit of control—an issue I really struggled with due to the need for control in my life.

There are things I can do that give me some sense of control now.  I can clearly explain why things hurt and you can see a lot of my problems with MRIs and the like.  Proof!  I can exercise the right way and make my body strong which helps my muscles, as they are literally holding my joints together.  I can prevent injuries this way, like spontaneous pulled muscles and tendonosis.  I can also help stabilize my joints and heal the tendonosis by going to physical therapy and doing my exercises at home.  Amazing!

Aside from my semi-anonymous blog, no one can find me still, but I sort of feel like loaning out my picture as the face of Ehlers-Danlos syndrome, the disease I was lucky enough to get in a swap.  I think only someone who has been through this can understand my excitement or even why it makes sense.  After all, the disease process is no different and and my lost life is still gone forever—buried in a pile of lost lives that sits next to the dusty parking lot at the Disease Swap Meet.

Come on down.  2 for 1 tickets this weekend.

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I’m a researcher by nature, so when keratoconus (KC) landed on my already full plate, I did as much research on it as my failing eyesight allowed.  While educating myself on KC, I wanted to know why I got this in the 1st place.  Was it genetic? Yes, some markers for KC have been identified, but no one in my family has/had KC that I was aware of.  I have such a bizarre multitude of health problems, but my eyesight was never an issue.

I did take note of 3 connective tissue disorders associated with keratoconus and discussed Ehlers-Danlos syndrome (EDS) in a previous post.  As already mentioned, EDS was eerily familiar in terms of my various symptoms.  With this syndrome, there is a defect in the production and synthesis of collagen—or in some types of EDS, at least—and for those with KC, you know that the cornea is full of collagen, hence collagen cross-linking (CXL).  Collagen is found throughout the body and from my understanding, it is more or less like a glue that keeps the body together.  For more information on EDS, click here.

I made a list of questions to ask my surgeon on the day of my cross-linking, and EDS was one of them.  I described some symptoms—hypermobile/loose joints, chronic and spontaneous bruising and black eyes, mitral valve prolapse—a type of heart murmur, and whatnot.  He told me it was worth seeing a geneticist.  That sounded easy enough.

Well, it took about 2 months to find a geneticist who dealt with adults, and not prenatal, and another month to find out I didn’t need a prior-authorization for a consultation.  I did have to go to another state again since there is no one in the city I live in which is odd, but at least she was in-network for my insurance and I could use insurance, unlike with CXL. Another drive, but at least through the pretty, red rock canyons of the desert and not L.A. traffic.  I wish my vision were better to see it all.

I was told to just bring a list of medications I take and my ID and insurance cards.  I didn’t think to write a history since a geneticist would ask a million questions, anyway.  I got up at the crack of dawn and got a ride—I still can’t see well enough to drive during the day—for the 2 hour drive to this little town in the middle of nowhere.  After some confusion at the front desk of the hospital, I finally was ushered back to a room.  I’ve never seen a physician outside of a major city, but the geneticist is a transplant from the East Coast and well-trained. She mentioned rock climbing so maybe that’s what she’s doing out there.

The doctor was very high energy and we got off to a great start.  She normally gets referrals via another physician who has identified EDS symptoms, but my rheumatologist always dismisses everything and is not my favorite person, so I sort of just referred myself.  She started asking a million questions, as I imagined she would.  She asked about my medical history and that of my family’s and took note of our ethnicity.  She asked if I could do any tricks with my joints, which is common in type III.  I told her I couldn’t, but that as a child I would chronically sit on the floor like a frog—lower legs facing out—and that adults went crazy over it.  It was natural for me and I usually could be found doing my art this way.  Apparently this is called W-sit or W-sitting since your legs form a W-shape. Who knew?

She was drawing a family tree and making notations all over. I told her how my maternal grandfather had severe joint and spinal problems, poor vision, and could pop his hip out of the socket without pain, which would send my grandmother into a frenzy.  I also said that while my mother seemed rather asymptomatic, she has early-onset osteoarthritis and had a knee replacement several years ago, although she is in her mid-60s now.  I suspected the EDS—if I had it—came from this lineage.  The doctor mentioned that some symptoms were quite odd, as in not seen in a normal person.

Then I had to put on the infamous gown and I got the most thorough exam of my life.  She pointed out things I didn’t even know I had, primarily more skin oddities, like the fact that my skin is mildly hyperextensible, or stretchy, and is soft and velvety (it is?), which is common in EDS. Yes, the India Rubber Man had EDS but she reiterated that that is not the norm.  I could use the money being in a freak show since disability pays squat but I just can’t pull my skin out that far. She pointed out how aged the back of my hands looked compared to hers and that she wasn’t that much older.  Oh, thanks.  I remember she demonstrated how my skin stretched, but bounced back, on my hands.

I do have prominent veins in most of my body, not just my hands.  It started in my hands when I first got sick with what was diagnosed as fibromyalgia and then in 2010 it showed up all over my legs and just spread from there. Translucent skin and a venous pattern are seen in EDS, but most often in type IV.  She moved my joints around and pointed out that while they weren’t super hypermobile, they had an abnormal range of motion.  This was in the joints of my upper body.  She noted my mild scoliosis that I did not have in adolescence.

She thought the stage 1 prolapse of some of my pelvic organs was very odd in a woman in her late-30s with no history of pregnancy.  Agreed.  The KC was noted, as it shows up in a couple types of EDS.  She listened to my heart and heard the click from my mitral valve prolapse, which my mother also has. She looked over surgical scars I have that are horrible and one scar from a bike accident at age 12-ish that is also strange.  I have poor wound healing and with my surgery 6 years ago, the incisions were only half-healed when the surgeon tried to remove the sutures.  My scars are wide and abnormal and one has a typical, cigarette-paper look .  She asked about stretch marks but mine are just from normal body changes during puberty.

Finally we were done and she said all this was consistent with EDS and began searching through the types on the computer. She felt strongly about type II—usually diagnosed clinically due to insurance not covering testing, but wanted to rule out type IV, the fatal type, due to my venous pattern and other symptoms.  She mentioned type VI that mainly involves spinal deformity and fragile eyes, but it’s so rare and severe that I crossed it off the list.

It’s been a little over 3 weeks since my consultation and I just received the botched mess that is my file—really just her dictation based on the notes she apparently couldn’t decipher. That was disappointing since it went to 4 of my specialists. The file was sent to my insurance company for a prior-authorization for a genetic test to rule out type IV.  If this isn’t done by the end of the year, it’ll have to be put off due to my massive insurance deductible.  So, presuming I will be able to get the blood work done this month and that it will take a few weeks to get the results, I should know soon whether I will be dead within a decade or just facing an entire lifetime of chronic pain and a body falling to pieces.

In the meantime, I’m hoping my specialist who I see next month is knowledgeable enough to say that I was definitively misdiagnosed 11 years ago and do not have fibromyalgia or that I simply have a new diagnosis and more fun to look forward to.  Flip the coin.

Update: After my diagnosis of Ehlers-Danlos syndrome (EDS), my PM&R specialist, as well as my geneticist, felt strongly that I was misdiagnosed and never carried a diagnosis of fibromyalgia.  The genetic test for VEDS (type IV) came back negative and I have officially been diagnosed with classical EDS (type II).

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