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).

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4 thoughts on “DIAGNOSIS: EHLERS-DANLOS SYNDROME

  1. cynthiablue says:

    You said “I told her I couldn’t, but that as a child (elementary school age) I would chronically sit on the floor like a frog—lower legs facing out—and that adults went crazy over it. “… I could do that as a kid, too (not so much anymore, but still can get into the position) and people would just freak out about it. I thought it was normal! :p

    • So glad you found this. It can be seen in normal kids (it is discouraged) and then there are the hypermobile (but benign) gymnasts, ballerinas, and whatnot. However, I was never hypermobile in the traditional sense and thought I’d mention it to the geneticist. I can’t find any scholarly articles linking it to EDS online, otherwise I’d provide a link. I find researching EDS to be pretty frustrating in general.

      I can’t W-Sit at all anymore–amazing you can. I have loose joints with very stiff and overworked muscles that are full of knots, spasms, and make my life a barrel of fun. Btw, I have Type II (Classical), but I bet Type III (Hypermobility) EDSers can do this as adults, although they’d probably dislocate a lot of joints. EDS is odd and the types tend to overlap. I have some VEDS (Type IV) symptoms and had to get the genetic test to rule it out. Came back negative a few weeks ago, so I guess I’m stuck in this body for a while!

      My mother, who is rather asymptomatic but has EDS due to her father’s wreck of a body, admitted recently that she sat this way throughout childhood, too. Food for thought…

  2. Wendy says:

    I am going to the geneticist in a few weeks and I could have written your story almost word for word. It is unbelievable. I did go digging around and actually found a photo of myself w-sitting as a child! Opening christmas presents no less. I am about 8 years old and I always sat like that. I could also spin my hands almost completely around for tricks. I am no longer “bendy” like you except for a few joints. Thank you so much for writing!

  3. Hi Wendy,
    You are so welcome! Do I have a twin out there? That’s one reason I write–I got stuck with that awful misdiagnosis for 12 yrs. and don’t want anyone else to go through that. My most disabling symptom is still horrid, chronic muscular pain, which I never mentioned in this particular post… Oops!

    Btw, as I officially have Type II, I’m not majorly hypermobile (never was aside from the W-sitting and I have photos, too!), but I have loose/unstable joints in general and some have an abnormal range of motion–mainly in my upper body. Sound familiar? It was my newer PT who picked up on this (love her)! The only “tricks” I can do is pull my thumb to my wrist, turn my neck 90 degrees towards my shoulder like ET, and reach my arms really far up my back, but if you do a Google Image search for “wrist sign,” I can do everything on there so now I’m just confused! Who knows? Crazy connective tissue disorders have things in common, but genes “run true,” so EDS it is! I need to change that image I have on 1 post w/the Type III symptoms like I’m in the Cirque du Soleil… Lol.

    If you have all the little oddities that go along with EDS (Types I or II), then I sure am glad you found a geneticist! FYI, it will be a “clinical diagnosis” as the DNA tests are not sensitive enough yet (except for Type IV) and type III (super hypermobile) doesn’t even have a gene identified yet. Don’t waste your time as insurance (In the US) won’t cover it and the “pickup” rate is under 50%. Insurance will usually cover type IV, if you need that looked in to, and the test is over 98% effective per the lab that did my test. It took me months to find a geneticist who treated adults and I went in thinking, “Well, maybe 50/50” because the medical literature seems to give the worst-case scenarios, although my EDS has been going crazy since 2010, 9 yrs. after getting sick with the “fibro-type” symptoms. My geneticist said there’s a wide spectrum with EDS, even within the family gene pool, so it varies. If you like medical literature, here’s a wordy, “worst-case scenario” description of Types I & II (Classical Type). Type II is less severe in regards to the skin complications:
    http://www.ncbi.nlm.nih.gov/books/NBK1244/
    Do post an update! Take care and thanks for commenting… 🙂
    A

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