EHLERS-DANLOS SYNDROME?

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Photo Source: Me!

While my eyes are still healing, I thought I’d mention a somewhat rare syndrome that I will be seeing a geneticist about.  It’s called Ehlers-Danlos syndrome (EDS) and it’s an inherited connective tissue disorder that can be associated with keratoconus. There are many types of EDS and if I do have it, I would have one of the milder forms.

Now, that doesn’t mean everyone needs to see a geneticist for this disorder or any of the other connective tissue disorders associated with keratoconus, but I have so many of its symptoms that when I mentioned it to my ophthalmologist, he suggested I see a geneticist to rule it out.  Of course, thanks to insurance hang-ups and whatnot, I’m still waiting on this.

I’ve mentioned that I have severe fibromyalgia* (see update), but some doctors tell me something else is going on as I have hypermobile joints which are symptomatic, chronic myofascial pain from muscle spasm, very easy and spontaneous bruising, leaky heart valves which cause a murmur, GI issues, strange allergies, chronic tendon problems, and on and on.  EDS may explain some of these problems, as well as why I got keratoconus.

One of my grandfathers had many EDS symptoms, especially the hybermobile joints and joint pain which was worse than mine, so I’m curious to see what the appointment reveals. There is no real cure (what’s new?), but I’d like an answer as to why I have such severe or atypical fibromyalgia and maybe this will explain a few things.  I learned about EDS doing research online after my keratoconus diagnosis this summer—food for thought for anyone with a similar medical history.

*Update: I was diagnosed with Ehlers-Danlos syndrome (EDS), classical type (type II) by a geneticist in November, 2012.  It is sometimes misdiagnosed as fibromyalgia.

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12 thoughts on “EHLERS-DANLOS SYNDROME?

  1. Wendy Dickson says:

    Great blog. Thanks for leaving your post on my blog I sent you a message but not sure if it has gone. X

  2. ChaelaLynn says:

    It’s amazing what medical problems are explained once the EDS diagnosis comes through! Good luck on your journey!

  3. Ticie says:

    Hi– Just found your blog, and am looking for others with dual diagnosis EDS and Keratoconus, as my son has both as well. Specifically I’m interested in how you’ve treated your KC–contact lenses alone? CXL? etc
    It’s a fairly small group of people, and hopefully we can learn from each other–

    thanks!
    Ticie

    • Hi Ticie,

      Welcome to my blog and inner thoughts. It’s a bit of a depressing place at the moment, but what can I say? Yes, it is a small group, but also a small world! All of your questions are in my categories at the bottom of my blog, but in a nutshell for anyone interested, I had bilateral cross-linking which has halted the progression thus far and unfortunately, I really can’t wear contact lenses. I never wore them pre-CXL as the disease hit so fast and my eyes were very dry and post-CXL, I have no tear production. This is the biggest struggle, aside from how painful my eyes are, as I can’t see like most KCers who just put in RGPs or hybrids or whatnot. I have a pair of scleral lenses that I got a couple months ago and I’m forced to wear if I have to drive, but they’re not perfect due to my other eye issues and I need to wear them with ointment in my eyes to try and keep my eyes moist, so rather like driving with Vaseline all over the windshield. And then the inflammation comes after only a few hours of wear. :/

      My posts are long and ramble on and forget the beginning ones when I couldn’t see at all and had to rewrite, but feel free to browse (or skim). I get visitors with EDS and KC as I can usually see the search terms on here, but not many drop a line.

      Take care…
      A

  4. liljodzx says:

    Hey! I was diagnosed in 2012 too! I’m a lot stronger now, I’m only 22 but my biggest fear is the future and it’s so helpful to be able to read the stories of others such as yourself! Thankyou I look forward to reading more!

    • Hi and welcome (and thanks for the follow)!

      I’m so sorry you’re a member of the EDS club at such a young age. It is really just awful and so unpredictable. I just got sick one day in my late 20s and I was misdiagnosed for so long. I swear I’d never have figured it out if I hadn’t have developed keratoconus, either. It’s rather odd that I was figuring this out while starting this blog on my eye disease in 2012–so 2 fun diagnoses that year! Btw, I tend to blog on my keratoconus more as I don’t know where to start with the EDS, but I do write about it off and on.

      I have classical EDS (type II) and really should change out the image I have of the Beighton score that I think is on here as I can only do the thumb to wrist thing, but I have other joints and bones that are hypermobile and subluxate w/o physical therapy and am a super stiff and achy mess. I never knew I subluxated! Haha. I’m different from the type III crowd in a lot of ways, but a non-functioning mess, regardless. Gee, I sound like such a downer, but I try to keep my posts humorous for the most part. I’ll bookmark your blog as it’s too hard for me to follow everyone with my low vision and crazy inbox, but I try to check on everyone as often as my eyes allow…

      Thanks for dropping by and talk soon!
      A 🙂

      • liljodzx says:

        Thanks! I was misdiagnosed for years too, wasn’t until glandular fever and resting for so long that my symptoms got worse and ended up finally getting diagnosed – even had one doctor tell me I had an infected nerve on my face (neuralgia) when in fact my jaw had been sublaxing!!

      • I think most people have our sad story of sitting for years and years w/o a diagnosis (or a wrong one, which is what happened to me). And then there is either a sudden onset or a sudden worsening of symptoms from something it seems. It’s rather odd. Argh! I had to Google what you had (British English there). Lol! We call that mono and I had it at age 16 or so and was so sick, but no EDS for another decade. I did get worse after getting something called viral vasculitis awhile back. After that fun thing, I got a venous pattern everywhere, acrogeria in my hands/arms, more arthralgia, and loads of weird allergies leading to further weight loss. So, I think there are triggers in us too. I hate that the doctors over there are as clueless as the ones in the States. Booooo! CEDSers usually have issues with the TM joint in the jaw and I also grind my teeth and that joint is super hypermobile and owww! I want to rip my jaw off sometimes… 🙂

  5. Cheri says:

    Hello, sorry to hear you also have EDS. I simply wanted to tell you about a very informative support group that I’d highly recommend. You can find it at http://www.inspire.com I have learned more from this group in 1 year than the previous 17 years since my diagnosis. I wish you good health and hope you are able to get the correct help and treatment for this frequently undiagnosed condition 🙂

    • Thank you for your comment, Cheri. It took me over a decade to connect the dots on EDS, as you probably read (I figured it out as I was writing my blog). I am familiar with the EDNF’s forum on Inspire and am glad you have learned so much there. I have EDS, classical type and find it to be rather dominated by those with EDS, hypermobility type, but aside from the online medical journals where I primarily get my info, it is a very good place to get and share info with fellow EDSers. I’m sorry you’re stuck with EDS, as well. I wouldn’t wish it on my worst enemy.

      Take good care and thanks for dropping by,
      A 🙂

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