New Year / New Diagnosis

I am not sure if it is fitting or just plain mean that I was at the doctor’s office on December 31 and January 1. On January 1, I received the definite diagnosis that I have EDS, which stands for Ehlers-Danlos syndrome.

New Year New Diagnois

My Story:

Last year, during EDS awareness month (May), another blogger in a closed group that is for other bloggers who blog to bring awareness to health problems shared a post about the symptoms of EDS, and I thought “Wow, that’s me. It fits me perfectly.” However, even after talking to the blogger, I couldn’t figure out how getting diagnosed would help me. It seemed like a lot of trouble for no pay off. Like, there would be no treatment or difference in my treatments. I was in so much pain, though, I also couldn’t and can’t think clearly.

Towards the end of last year, my mom emailed me information about EDS because she thought that it sounded like me. However, at this time, I was (and still am) suffering from multiple, debilitating bursitis points, need PT, but the therapists injure me, and I’m always wearing 2-4 braces. Not to mention, pain has consumed my life. I am housebound. I have a few acquaintances who are more of a problem to have because they only see me when I am well, so they expect more out of me and don’t take my limitations into consideration.

I also kept hitting a brick wall when I went to orthopedic specialists. I would leave with a 45 minute lecture on fibromyalgia and no one would do any imaging on my problem areas or help me in anyway. I thought I was losing my mind. I really can’t count how many times that I left a doctor’s office sobbing because my hope for help had been crushed.

After spending some time on inspire.com’s message boards, reading the stories of other people with EDS, I realized that a diagnosis would mean that other doctors would take me seriously and treat me with respect. And if they didn’t, I could know it was them, and not me. Unfortunately, I have suffered a lot of emotional pain and physical pain because doctors didn’t take me seriously. As I’ve talked to other EDS patients, I have learned that they get taken seriously after they are diagnosed.

While geneticists can diagnose EDS, in the US, no one doctor treats it, which is why I went to 3 rheumatologists and a fibromyalgia specialist who all said my hypermobility was off the charts, but never thought that I might have EDS, which requires specialized physical therapy, at a minimum.

I chose to see a specialist who works with diagnosing and treating EDS patients. His entire practice is devoted to 1 or 2 hour long appointments to fully address all of the patients needs because EDS patients can be complex. I had the misfortune of being one of the most complex to come in. I do think that is because I am almost 28 years old and have been to every specialist under the sun without any relief.

My EDS:

I have features that overlap types I and III, but they are essentially treated the same. Type I just means that I bruise more easily and have elastic skin. I have hypermobile joints all over my body. During the examination, I learned that I was hypermobile in places that I didn’t know could be hypermobile, and all of the cracking left me a little bit sick.

I did a little research and found this:

For each individual with EDS, the clinical story is unique. There isn’t a single answer as to why an individual might have features of more than one type of EDS. The first step that they could take to sort this out is to visit a medical geneticist. It is possible that they might benefit from laboratory testing to confirm the molecular or biochemical basis of the form of EDS that they have. Sometimes, but not always, the testing helps to clarify the clinical confusion. It may be, however, that they have features of more than one type of EDS because they have a connective tissue disorder that hasn’t yet been “described,” meaning that the underlying protein abnormality or gene mutation is unknown. Future research studies will be necessary to answer the question. Answered by Melanie Pepin MS, CGC

So, your EDS won’t look like mine or anyone else’s EDS, which is why it takes an exam.

Overall, what I have is a connective tissue disorder.

I haven’t gotten very far into the treatment process yet. I am meeting with my local physiatrist tomorrow to start working on getting the MRIs that I have been seeking for the last year. I will also see my other doctor soon to change my medications. And finally, I go back to the EDS doctor next week to have custom braces fitted and meet with him again. Oh, and at some point, I need to find a physical therapist who will read a 200 page book and spend 40 minutes alone with me each week to use those techniques.

I am not an expert or a doctor. But, if something is wrong with your body, remember that you know yourself the best and that you have to advocate for yourself. I haven’t been an EDS patient for long, but I’ve been a professional patient for a long time.

Anyway, I wanted to share my story, so readers if anyone else is struggling with hypermobility and or unexplained pain and thinks they may have EDS, I want to encourage them to bring their concerns to a trusted doctor. [Sidenote: I had plenty of doctors tell me not to waste time getting examined because it would hurt and be a waste of time because they didn’t believe that I had it, when I have a severe and complex case. Once of the doctors that discouraged me had only met me once and just looked at my knees.] Also, do your own research to bring to the doctor. My great doctor didn’t know the process about how to get diagnosed. You don’t go to a rheumatologist. I waited two months to see one and get laughed out. You need to get an appointment with a geneticist ASAP.

If you think you have it, please look into the symptoms further, and approach your most trusted doctor.

I recommend going to your local EDS support group and joining inspire.com to ask about the best places to get diagnosed.

Please note that comments with links that are not relevant to the discussion will not be approved. Personal signatures with blog URLs will be deleted. Please use the Disqus profile to add your blog’s URL, so that I can find you.

Categories: EDS, Health | Tags: , |

13 Comments

  • Kaity Bee | January 6, 2016 | Reply

    I hope your new diagnosis brings you some peace. It’s so unfair that you have to suffer the way that you do.


    • Sarah @ Back to Carolina | January 6, 2016 | Reply

      Thanks, Kaity! I think it will let the doctors actually diagnose some of the underlying problems (he found a problem with my back that indicates that I have something wrong and will eventually have more pain and neurological problems with my legs! I need a ton of testing.) But, in the end, I will have treatments, instead of band-aids! 🙂


  • Sara Blinder | January 6, 2016 | Reply

    Wow. Hoping that this new diagnosis gets you taken seriously and that you can find the right physical therapist.


    • Sarah @ Back to Carolina | January 6, 2016 | Reply

      My new doctor is amazing! He’s one of the few good doctors that treats and has a plan. He even found a few more very concerning problems with my spine, which could mean neurological problems in the future. And I already have several neurological problems. Thankfully, it’s treatable!


  • Meagan | January 6, 2016 | Reply

    I am hoping that this brings some sort of relief for you. I often think about you and hope the best for you!


    • Sarah @ Back to Carolina | January 6, 2016 | Reply

      Thank you! I am tired of band aids. I think that I will get out of pain because they will be able to treat the root cause 🙂


  • Sheryl @ How to Make a Life | January 7, 2016 | Reply

    I am so sorry about this but also so happy that you have received a diagnosis. I currently see a client with EDS and she is fortunate enough to have everything managed. She is 67 and at times she still returns to Cincinnati Childrens Hospital to see their specialist. Praying for you that this leads to the right form of help.


  • Brookie | January 10, 2016 | Reply

    Once again, sorry for this rough road!! Yet I am hoping you experience relief soon with the specialized treatments, and get the respect you have always deserved but now may get by having a diagnosis.

    My first doctor always thought I had a connective tissue disorder rather than fibromyalgia. Was your diagnosis through the visit and physical observation, or was/is there a genetic blood test that is an option?


    • Sarah @ Back to Carolina | January 11, 2016 | Reply

      Well, certain types of EDS can be determined through a blood test and type III (hypermobility) needs a physical examination. You need a geneticist who will do a physical examination, which is why it is an under-diagnosed condition. In Europe, rheumotoligsts manage EDS, so it gets found more often. I ended up seeing a doctor who doesn’t take insurance, but he specializes in EDS III. He said that if he thought it was anything else, he would get me in with a geneticist immediately. I do have extremely soft skin and it is slightly elastic, so it could be crossover with type I, but the treatment would be the same and I have extreme pain, which is definitely type III. My doctor said that some people hypothesize that types I and III may be the same. Anyway, I recommend going to inspire.com and going to the EDS section (it’s not hard to navigate the website). There are just so many people on there that if you give your location or the nearest big city and ask for someone who could diagnose you, people will be able to help you. There is one woman who ALWAYS just gives you a link to local support groups, but ignore her. My local support group is useless. Just wait and someone will actually give you the name of a place or doctor to see.


  • Britt Hanson | January 13, 2016 | Reply

    Oh goodness. Another rough patch, but hopefully this diagnosis will get you the help you need! <3


  • Kenz @ Life According to Kenz | January 27, 2016 | Reply

    Getting to the bottom of your pain has got to start somewhere. I know it has not been easy for you lately, Sarah, but so many of us love you and are sending you prayers. There are so many people under the #chroniclife hashtag on Twitter who struggle with EDS. I would be happy to connect you with some folks in particular if interested 🙂 Just shoot me an e-mail or respond here and I can send you a list of them! Hope you receive some relief soon, friend. <3


    • Sarah @ Back to Carolina | January 29, 2016 | Reply

      Thanks!!! I would love a list. I’m struggling a lot with wearing jeans. I tend to stay at home so I can wear sweatpants with my braces. I haven’t found a way around it, other than leggings with dresses, but my kneecaps don’t stay in place as well.


  • What Happened in 2016? - Seriously, Sarah?Seriously, Sarah? | January 9, 2017 | Reply

    […] that I have suffered from my entire life. The diagnosis explained a lot of my medical issues. You can read about that here. After I was diagnosed, I didn't blog much. In fact, I blogged a few times that month and then […]


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