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.
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.
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.
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