Oct 28, 2011

Does New Diagnosis Explain Everything?

Warning: This is going to be my own personal blogtherapy session. Meaning I need to get everything off of my chest and the racing thoughts out of my head tonight so I can get some damn sleep. A big thanks to Rusty Hoe over at Living with Bob for reminding me just how therapeutic blogging can be, especially during life's toughest moments.

Yesterday's trip to the geneticist was an interesting experience. I saw a geneticist and a genetic counselor at a nearby children's hospital where they primarily deal with children and mothers-to-be. Originally my appointment was scheduled for April of 2012 but there was a cancellation yesterday so they called me two days beforehand to see if I would be available to come in early. I was hoping to get in sometime before next year of course but I had no idea it would be so soon so didn't have much time to mentally prepare myself. Just hours before the appointment I contemplated cancelling it completely. Wasn't sure I was ready to know yet or if I ever wanted to know for that matter.

I already know that I have postural orthostatic tachycardia syndrome and temporomandibular joint disorder which are both incredibly tough to manage on a daily basis, along with a few other minor medical conditions like gastroesophageal reflux and sinusitis which I can deal with. I did not particularly want another hard-to-pronounce diagnosis to add to the list. And ehlers-danlos syndrome, EDS for short, is a difficult one to say the least. It is an inherited condition that effects the collagen production in the connective tissues of the body, which of course, are located all over the body. It primarily effects the joints and skin, however it can also effect the eyes, heart, gums--basically anywhere that connective tissues reside. As you already know or can imagine, having a condition like this can impact nearly every part of the body and often explain the unexplainable. EDS predisposes people to both autonomic dysfunction and joint instability. In other words, both POTS and TMJ are merely manifestations of defective connective tissue.

To quote my friend Claudia's analogy, the glue holding normal people together has the strength of concrete while the glue holding an EDS patient's body together has the strength of bubblegum. Now, on the bright side, people with EDS are very flexible and have soft skin. On the downside, it can be a physically disabling condition and depending on which subtype of EDS is involved, can also be life-threatening.

So, do I have EDS? Well unfortunately the answer is yes. The geneticist took a thorough medical and family history and then conducted the physical exam. This woman was very thorough, measuring the circumference of my head and the length of my fingers. She even measured my ears. She also checked the uvula in the back of my throat to see if I had one or two. She was pleased to find that I only had one. I scored a 6 out of 9 on the Beighton Scale. The minimum for diagnosis is a 5 out of 9 so I am hoping that a 6 means I have a mild case. I have Type III or the hypermobility type which is generally thought to be the least severe. She examined the skin on my arms, face, abdomen and shins and determined that it was soft but that I was not subject to abnormal scarring or excessive bruising as found in many of the classical and vascular cases. They were both very confident in their diagnosis which reassured me, at least to a degree, that EDS is to blame for everything that has happened to my health the past four years.

I left the geneticist's office yesterday with a 30-page stack of literature regarding the condition. They gave me this document from NIH which is thought to be the current gold standard in guides to management. They also printed off some helpful info from The Ehlers-Danlos National Foundation. Both the genetic counselor and the geneticist both seemed to know their stuff and assured me that although this is not extremely common, it is certainly not uncommon and that there are thousands and thousands of people living with EDS in the United States alone. It is estimated the 40% of people in the country of Chile have some form of EDS.

In a way, I am relieved to have the diagnosis part over and done with. I think my gigantic health mystery has been solved. The missing puzzle piece has fit into place. I still don't understand why my joints have never given me any trouble in the past until I turned 22 and why all of a sudden after that fateful wisdom teeth surgery I fell instantly ill with both POTS and TMJ. I still wish I could turn back time and never had had that surgery. I am convinced that I would still be healthy today if I hadn't had that surgery, with or without an EDS diagnosis. To be perfectly honest, if I didn't have POTS, I probably would have never known I had EDS.

Growing up, being flexible never posed any problems for me. I never sustained any injuries and I never suffered any aches and pains. In fact hypermobility probably offered me a bit of an advantage in the ballet world. My teacher always said I had perfect turn-out. And it was pretty effortless. However I can't help but look back and wonder how many of the girls I danced ballet with may also have EDS considering some of them were even more naturally flexible than I was. Back when I was a kid before the Internet had taken off, I think it was really a matter of lack of awareness that any conditions like this even existed. Access to information has improved considerably since then so now people are able to Google any medical condition under the sun and get instantly connected to online communities, resources and services pertaining to any given condition.

Part of me wants to contact Lifetime TV's Dance Moms and tell them to get their kids checked for EDS. I believe this condition is prevalent in the dance world and perhaps it's not good to encourage joint hyperextension at an early age, if at all for people with connective tissue disorders. Don't get me wrong, I love ballet. Probably in large part because it came naturally for me. I wouldn't want any of the girls on Dance Moms to quit doing what they love (I am a huge fan of the show!) but just for them to have the opportunity to be aware at an early age so they can take precautions in case any of them do have EDS or something like it.

Because I am still new to all of this, I definitely have a lot to learn. Any guidance is much appreciated. I do have a few questions for those of you who have been in my shoes before. I plan on starting off slow with a few sessions of physical therapy that I can replicate at home. Which activities best stabilize joints or strengthen the surrounding muscles safely with minimal risk of injury? Are there any specific exercises you would recommend for hypermobile knees, elbows and shoulders? Have you tried any methods of natural pain relief that have been effective?

I read in the NIH document that 1 in 20,000 people have the hypermobility type of EDS. However estimates are as high as 1 in every 5,000 people. Rest assured, fellow zebras, when people tell us we are a one of a kind, it is true! Which brings me to my last and perhaps most lighthearted question: why is the EDS mascot the zebra? It is a lovely animal, I just don't understand the significance. Does anyone know the history behind it? I'd be interested to hear it!


  1. It is really interesting that 40% of people in Chile are thought to have EDS - did your doctor have any explanations as to why that is? My mayo clinic doctor talked about POTS being caused by stretchy joints and how it's very common in dancers and gymnasts - he didn't actually use the words EDS but I think it's what he was implying, so I would definitely say you're right about it being prevalent in the dance world. I think dance may actually be a benefit, though, because we have to have enough strength to manage our flexibility which should help stabilize the joints and flexibility, at least that's how I think it should work. I wish I could help you more! I'm glad you're working with doctors who seem to really know their stuff and that you're already getting a head start on getting educated about the disorder, though. I hope you were able to get sleep after writing this! <3

  2. Hey, sorry to hear about the added diagnosis!

    To answer some of your questions-
    your beighton score has nothing to do with how severe or mild your case is as everyone is affected differently. Also its not EDS that kills, its the complications that arise from having EDS. Even those with a hypermobile type have just as many problems as others…it sucks non the less.

    As far as physical therapy- low impact is the best, aqua therapy is great. It all depends on whats going on too

    the Zebra story- doctors are taught to always look for the obvious and easiest answer first as for diagnosising…because rare diseases are exactly that - rare. Well with us its all relative….so they say when you hear hoof beats think zebras not horses. as in think outside of the box.

  3. I recommend reading both of Dr. Brad Tinkle's books, they are excellent, and will give you a lot of information in one place that you can trust. It's written for the hypermobility type, which makes it even more relevant for you (and me, I have that type as well). The books are "Issues and Management of Joint Hypermobility: A Guide for the Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome" and "Joint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome." In Dr. Tinkle's books he mentions that a lot of gymnasts and dancers have hypermobility and that they have trained their muscles to be able to do. While I have no doubt that many gymnasts and dancers probably have a higher percentage of people with hypermobility syndrome or EDS hypermobility type, a lot of them have conditioned themselves as an athletes to do that. Also, it is fairly common for someone to have hypermobility in one or two joints, hence the need for more than four on the Beighten score. I know when I try to explain EDS to a lot of people they think it is the same as just being double jointed. Like you said, it is a whole lot more! I like the analogy with the concrete and bubble gum. Two support places (other than facebook) you can try are butyoudontlooksick.com and hypermobility.org. Oh, and you may hear people referring to hypermobility syndrome, which a lot of doctors (but not all) believe is the same as the hypermobity type of EDS. Oh, and the hypermobility type used to be called EDS III, so you may see it referenced that way. Those are all the info bits I can think of to throw at you right now. I hope it helps!

  4. Sorry to welcome you to the heard! However, there is a massive support system out there, especially on fb. There is a closed group called holistic edsers, and we often throw around alternative treatments and therapies for eds. We would love to have you! Best of luck....I too was a dancer, gymnast....overtaxing your joints as a child will lead to more damage as you age...nutrition is also extremely important!
    Pots and mcad go hand in hand....mcad is what caused my pots...they thought for years that it was due to pregnancy...but alas, it is not!

  5. OH dear. I too often wish where my life would be without my wisdom teeth removal. I just really wish I would have known that it would have led to everything as well.

    I'm sorry to hear that you have EDS, too. I was diagnosed by a geneticist here as well & my mom was also diagnosed. It is very important to get your eyes checked annually as they are 85-90% cartilage & have annual echocardiograms!

    I also love the feedback from Lady of the Ozarks! I will definitely check out those books, I love learning new material and trying to stay on top of all these awful conditions :/

    Take care girl,
    let me know some tid bits you find out as I am always learning as well!!


  6. Chanelle I found that shocking too! I don't have any Chilean heritage and I'm not sure why 40% of the country would have it except that it is a genetic condition. The geneticists mentioned it when saying that EDS really is not uncommon. Here is an article I found where they studied a Chilean population with EDS: http://www.ncbi.nlm.nih.gov/pubmed/16447226
    You know you're right about the dance thing though. Perhaps that's why I never had any pain or injuries growing up, maybe the extra muscle strength from dance helped keep things in place. VERY good point. Check out this discussion I found on Dance.net regarding hypermobility: http://www.dance.net/topic/4032785/2/Stretching-Photos-Misc/Hyper-mobile-joints.html&replies=45

  7. Thanks for clarifying the whole zebra thing Katie! :) You explained it perfectly. Aqua therapy is an interesting idea. Right now everything's just popping and clicking along with some muscle spasming. I have a feeling if I was in better physical shape my body would hold itself in place a little better so I'm definitely going to pursue some PT!

    Lady of the Ozarks, I am definitely going to read Dr. Tinkle's books cover to cover. He is supposed to be the expert on EDS. I really have to give kudos to my friend Claudia for the bubblegum analogy. :) After she explained that it made perfect sense to me. Thanks so much for the info will def check out the websites and I was wondering what the real difference is between hypermobility syndrome and EDS hypermobility type. I guess a lot of doctors probably don't distinguish between the two.

    Chrissie thank you for welcoming me! I will definitely be joining that group on Facebook! I am way too sensitive to medications so any natural approaches are the way I want to go for sure. I am also going to look up MCAD and do a bit of research on the condition. It is almost uncanny that so many of us were dancers! I would also love to hear more about what has worked for you from a nutrition standpoint. Right now I am on a soft diet to try to relax my jaw muscles from the TMJ.

    Thanks Erin! I didn't know your mom had been diagnosed too! Has she had any symptoms of it throughout her life? Thanks for the reminder about the eyes! Lately I have been using eyedrops everyday because they are so dry and irritated. They've also been really light sensitive and not sure what that's all about but so far I've just been wearing sunglasses most of the time. I am overdue for an echocardiogram because my last one was in 2008 shortly after I first got sick. I am more than happy to share everything I learn with you! Going to conduct a little research the next few weeks, read Dr. Tinkle's books and start with PT and will keep you updated on progress.

  8. PILATES…. changed my life a lot. Be sure to get a trainer that knows what he/she is doing and can modify the exercises to meet your needs. I agree about Dance Moms. I heard on an episode of The Doctors that they brought the Cirque Du Soleil contortion specialist on and they recommended you take this "simple test" to see if you would be good at contortion…you guessed it, the test was the Beighton Score. Hypermobile EDS doesn't kill you. The vascular type does. Why suddenly at 22? because symptoms worsen with age. Even if you had not had your wisdom teeth pulled you would still eventually have problems. Maybe the POTS was precipitated with the extraction I can't say but the EDS would still rear it's ugly head. Pregnancy is UGLY to EDSers. LIke someone wrote- everyone has different issues that are the worst for them. We all have the same variety of problems but for me it has been sever headaches, chiari, neck issues. I cannot dislocate anything intentionally but my neck and one rib and SI (including midline ligaments) are my problems. Look into Prolotherapy. It has helped me A LOT.

    1. Ok- I am new to this-my daughter is a 9/9 as indicated by her physical therapist who was seeing her for lingering back pain- she has also been having daily headaches and issues with anxiety and I am looking into the possibility of EDS- but what does wisdom tooth extraction have to so with anything? ..she did have that done a year ago....

    2. Thanks Danee, I love Pilates as well and I'm glad it helped you in such a positive way! And you're probably right, something would have eventually triggered symptoms, for me it just happened to be the wisdom teeth extraction. The bad car accident I had a few weeks later didn't help either! This year I was diagnosed with Chiari and Cranio-cervical instability as a result of my car accident in 2007. I would LOVE to try prolotherapy as I've heard great things about it from other EDSers as well. Unfortunately I haven't been able to find any prolotherapy practitioners in my area. As it becomes more popular I am hoping I will be able to find someone in my state so I can finally give it a try!

      Barbie Faze, if your daughter scored a 9/9 on the Beighton Scale then she is most definitely hypermobile! I currently score a 7/9 but have never fallen below a 6/9. For me, the wisdom teeth extraction seemed to have triggered my POTS as I was previously very healthy one day and nearly bedridden the next. So for me that was the triggering event that rendered me symptomatic both for POTS and severe TMJD as the oral surgeon hyperextended my jaw. I am hoping your daughter had much better luck with her wisdom teeth surgery than I did!

  9. Oh I agree pilates is amazing!!! Have tried it at home many times but never worked with a trainer. That is crazy about the Beighton Scale being used on The Doctors to predict whether or not someone would make a good contortionist! Whenever I'm watching America's Got Talent and the dancers purposely dislocate their shoulders it always makes me wonder what kind of pain and injury they are going to suffer later in life...

    That is a healthier way to look at it I suppose. Chances are something would have triggered it at some point. I am sorry to hear about your neck issues and headaches. Chiari can be very tricky to treat from what I understand. Someone else recommended prolotherapy to me as well and I think there's definitely some validity behind it. My only problem is insurance won't cover it and there are no practitioners locally. If I could access prolotherapy treatment I would gladly give it a try. Hopefully in the future more preventative/curative treatments will be covered instead of just meds or "band-aid" fixes for everything.

  10. I came across this after googling "Dr. Tinkle" along with "POTS" because I am hoping to finally get my turn to see him soon -- it was a good read and I'm looking forward to checking out more of your blog.

    1. Thanks so much! I hope you got the opportunity to see Dr. Tinkle! I have never met him but was fortunate to have worked with one of his physical therapists who had a great understanding of EDS!