DIAGNOSIS: EHLERS-DANLOS SYNDROME

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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).

I’M TURNING INTO MS. BIGGLESWORTH

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Three weeks ago, or nine weeks after my cross-linking surgery, I started to notice more hair than normal in the shower.  Then I noticed clumps of hair in my wide tooth comb.  Soon enough, the drain in the tub began to clog until I opened it up and found the mother of all hairballs.

Now, I’ve had this happen before.  When I first got sick in 2001 with what I was told was fibromyalgia—stay tuned for a possible misdiagnosis post* (see update), my hair started to do the same thing until I lost at least 1/2 of it, if not more.  It finally stopped falling out but didn’t grow back to its original thickness until I finally forced a GP to put me on thyroid medication, as my TSH was borderline high.  It eventually grew back, but fell out two more times (not as badly) when I switched doctors and they subsequently screwed up my thyroid by switching my medication.  However, this round, my hair is not only falling out but also has this strange texture, which makes little sense considering my hair is finally getting long—nearly 3 years later—and has a lot of “old growth.”

I chalked it up to stress on my body from the CXL surgery (read my last post) or the stress of dealing with my mother pre- and post-op.  That didn’t quite fit the bill when I realized I had pretty traumatic surgery both physically and mentally in 2006 and no hair loss.  Hmmm… What could be the root cause?  I always seem to diagnose every malady I have so I just kept focusing on everything “cross-linking.”  Then it hit me like a ton of bricks (or a giant hairball) while I was trying to get my Carol’s Daughter shampoo and conditioner through my now beyond coarse, dry, and unruly hair—that was a plug for CD… Great for ethnic, curly hair.  Anyway, it had to be the Pred Forte eye drops, also known as steroids.

I started those drops on day 5 with instructions to use them 4 x day until told to stop.  Steroids are used after CXL to prevent hazing, which I got anyway, although it went away within 2 weeks.  I cannot take steroids, so I was worried about that drug, but an eye drop?  How much can get into your system? A lot.  I instantly got the insomnia—even while on Ambien to sleep, the night sweats, and my chronic musculoskeletal pain was through the roof.  I stuck it out for 17 days and got permission from my surgeon in L.A. to stop the drug.  All side effects subsided, or so I thought.

After researching this tonight, it appears there’s a huge connection between steroids and hair loss—a lot of hair loss—and that it continues long after you stop them.  I do know that it takes 3 months for hair that has fallen out of the follicle to actually grow—or fall—out of your head, so I really am hoping this will stop soon since I wasn’t on the steroid for that long. The odd thing is that it changes the texture of your hair and makes it coarse, dry, and frizzy, which would be my natural texture—plus curly, so it’s a hot mess right now.  I do get a trim next week and hope more layering (I lost any guys reading this) will hide the thinning that is rather obvious with my dark hair and pale scalp.  I can’t chop it off after nearly 3 years of growing it out!

I know this might all seem trivial, like for those on chemo or men who are going permanently bald, but I’m famous for my dark, thick, curly hair and at this point, it’s all I have going for me!

 

*Update: I was diagnosed with Ehlers-Danlos syndrome (EDS) by a geneticist in November, 2012.  It is an inherited connective tissue disorder that is sometimes misdiagnosed as fibromyalgia and can cause keratoconus.  I have written about this on my blog.

MY EXPERIENCE AFTER CROSS-LINKING

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Here is the good, the bad, and the ugly of my experience following cross-linking (CXL).

To learn what it’s like to get cross-linking surgery, you can read my post I GOT CROSS-LINKING!

Please note that everyone has a different experience with CXL. I just had my 3-month, post-op follow-up with my local ophthalmologist as required by the FDA for the CXL clinical trial I was in.  However, I haven’t written about my experience with CXL post-op in detail, so I’ll start there.  Again, this was my experience and it’s not typical.  I saw a top surgeon in Los Angeles, but my body has a strange reaction to about everything.

I had unremarkable, bilateral cross-linking surgery in the late afternoon and was given anesthetic drops mixed with a medication to dilate the eyes to take home, which is supposed to help with pain.  My doctor mixes these drops, as they aren’t readily available in a pharmacy.  I also had a steroid eye drop to start on day 5 and an ocular NSAID for pain.  I was told that some patients have little pain and some are in agony, and I guess I was unlucky enough to fall into the latter category.

I got back to the hotel with my blackout sunglasses and noticed that I had 2 black eyes—common for me and a shock to my doctor.  I also had red, irritated eyelids and my right eye was bloodshot from surgery.  I immediately started using the numbing drops and the NSAID drops as often as my doctor said I could.  I was very uncomfortable and it felt like acid had been poured into my eyes.  I had to sleep and shower with special goggles but I hardly slept as I woke up every hour from the pain and had to put in more drops, so it was a long night. The lights were killing me and my vision was worse, so trying to get into the hotel bathroom with the fluorescent lights was not fun.

The alarm woke me up very early again for my post-op appointment the next morning.  Aside from the eye pain (still doing those drops 3 times an hour), I was feeling really nauseous but managed to get cereal and tea down. We packed, checked out, and headed back to the doctor’s office. My nausea was getting worse by the minute.  The parking was in a hot, humid, underground garage and suddenly I was crouched on the floor as the blood rushed out of my head—I tend to pass out when I feel really sick.  I didn’t want to get into the elevator but had to get out of that garage and into a bathroom, STAT!  I remember the bathroom being in the hallway and needing a key, but luckily a woman was coming out and I just grabbed the door, ran in, and threw up about a dozen times in the toilet—and I never throw up!  It was horrible.  Well, aside from my eye pain, once I cleaned myself up, I felt much better.  Sort of reminded me of why I don’t drink.

I was rushed back to see my doctor, who did an eye exam and said everything looked okay.  He thought I was sick from the Vicodin, but I told him I had refused the Rx because I do get sick from narcotics.  I think if I could have taken 2 days of narcotics, the eye pain would have been much more tolerable. So, he figured it was my body reacting to the pain and put more numbing drops in my eyes—the same anesthetic ones I had with me and had my eyes doused with in surgery.  I had a few more things to do there and then was free to go and head back with my mother to her home 2 hours from L.A.

Well, guess what?  I got nauseous within 5 minutes of my doctor putting those numbing drops in, so now I knew what the culprit was.  I get very sick from general anesthesia so I suppose that nearly 24 hours of those drops was enough to make me sick.  Then I had to get in a car while wanting to throw up, all while being stuck in L.A. traffic on the freeway. I remember putting something over my glasses to block out all light and I reclined the seat and somehow made the trip back, which took about 3 hours due to the traffic.  I kept the NSAID drops nearby and used those every hour to help with the pain.

When I got to my mother’s house, I went straight to bed, which is what you’re supposed to do right after surgery, not 24 hours later.  It’s hard to get comfy with those goggles you have to wear and sleeping was hard since I was still waking up every hour to put in the NSAID drops.  I used Acuvail, by the way. Actually, I normally can’t sleep without Ambien, but after days of 4 or 5 hours of sleep, I was able to take a nap.

I woke up and remember having chills and chattering teeth, just like when I’ve had general anesthesia, so that sealed the deal that it was the drops that did me in.  Again, most people don’t have any problems with anesthetics and won’t deal with any of this.  I know I washed my face that night.  I wasn’t supposed to get my eyes wet for a while so I had my goggles on.  I must have eaten something—wish I could have seen and taken notes—and went to bed with my Ambien. The 2nd night I woke up at least 5 times from the pain and to douse my eyes with the Acuvail and lubricating eye drops, but the pain was better than the 1st night.

The next day, which would be day 2 post-op, I stayed inside and felt like I had the flu.  I would say this was the medication still lurking in my body and have never heard of any of these side effects.  The lights were bothering me at night inside the house (not horrible) and the glare from the silverware drawer was quite bad.  Again, I was using the Acuvail every hour still and my vision, as expected, was getting worse. That night I woke up maybe 3 times from the pain, so things were getting better, even though my vision was getting even worse.  I think it was the 3rd day that I finally felt like I wasn’t under the weather and even though the pain was still bothersome, I was almost sleeping through the night.

I returned home by car on day 5 post-op.  The pain was better but my vision was so distorted I couldn’t see a thing, which I assumed was due to my liquid bandage contact lenses being so dirty and full of all the medications.  I had also started the steroid drops, but all seemed okay with that. The several hour drive home at night was like the 4th of July. I couldn’t make out anything but the lights, which all looked like sparklers and fireworks.  I had my drops handy and was still on those every hour, with my doctor’s permission.  I got back home and thought I just had to wait until the next day to see my local ophthalmologist for my 1 week post-op and to have the contact lenses removed.  Yay, only one more day of those goggles.

Well, things didn’t turn out as expected.  I saw my doctor who went into alarmist mode since my epithelium hadn’t healed. The cells had partially grown back in my right eye, which had better vision now, and hardly grown back at all in my left eye, which came in at 20/400.  So, no getting the contacts out.  He scheduled me for a recheck in 48 hours and if things weren’t better, he was going to have to put something over my cornea in my left eye to get it to heal.  He blamed the dry, desert air and of course, we all have A/C going when it’s over 100°F.

I decided that if I doused my eyes with my liquid gel drops every 10 minutes and taped my eyes shut before bed—they’re half-open when I sleep—that I could get the epithelium to heal in both eyes and it worked!  I got the contacts removed (no difference in vision and I’d actually lost one contact from all the drops), got permission to sleep and shower without goggles, and was on my way.  My vision was dramatically better with the epithelial cells back on my corneas, too—well, not 20/400 anymore.  I thought I was over the hump.

Not so fast.  My dry eyes had now entered the no-tear-production zone and I was an achy mess—worse than normal—and having horrible night sweats.  I have problems with oral steroids and get those symptoms minus the dry eyes, so at day 17 I finally got off the steroid drops after talking to my doctor in L.A. and my symptoms were gone, except for the horribly dry eyes.

My right eye, which was my worse eye pre-op, had great improvement from the surgery and I have somewhere between 5-7 lines of improvement in my VA.  My left eye, which is healing much slower, currently has about the same VA as pre-op, so I’m much more symmetrical and have binocular vision again.  My VA will fluctuate for 3-6 months so I still have a ways to go.  I also no longer have worsening vision as the day goes on.  How I see when I get up is how I see when I go to bed.  How nice.  So, with that right eye I appear to be the poster child of CXL, but I have this slow healing of my epithelium and the severe dry eyes that have left me using ocular ointment (yes, essentially Vaseline) in my eyes every 30-60 minutes.  This is apparently not a normal side effect and I’m wondering if it will ever go away so I can get contacts and not have to explain to everyone why my eyes, eyelids, and eyelashes are so shiny.  Not to mention my eyes hurt!

So, this is where I am 3 months post-op and I would hardly say it’s normal.  I can’t drive during the day due to the light—a whiteout effect of sorts—and I rarely drive at night since my depth perception is still off and I just can’t see well enough. Near work is still impossible, but I finally figured out how to blow up the font on the internet via Google Chrome and I write my to-do lists with Sharpies and big sticky notes.

I sure wish I could see to pluck my unruly eyebrows and file my nails, but I guess I shouldn’t be so petty.  I could be blind, after all.