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: ,
But You Don’t Look Sick: An Open Letter


[Note: This post was updated on 1/12/2015, upon further reflection of the subject.]

So, I’ve been sick a few more months than when I originally wrote this post. Every single day, I learn more about what it’s like to be chronically ill and live with all of the ups and downs related to my conditions, as they take turns flaring and receding. I wonder if the conditions use some sort of lottery system, but I digress. Anyway, I’ve put some more thought into this post and updated it, hopefully for the benefit of all the sick and healthy people everywhere. As I talk to more people with chronic conditions and see that the perception of what being sick looks like has an impact on more people than just me. It affects so many areas of life for every chronically ill person.

but you don't look sick open letter

Hi there,

You may have just met me. You might be my good friend. You might even be my family member. I just wanted to take a moment to talk to you about the phrase “you don’t look sick.” You know what, you’ve never seen me at home alone. So, yeah, I don’t look sick right at this second. To borrow a phrase from the ever wonderful writer Ariane, my pants should not have to match my pain level. Sometimes, putting on a dress helps my mood, even if it doesn’t help my pain. I’m sorry if that conflicts with your idea of looking sick.

I don’t mean to sound ungrateful for what you mean as a compliment, but it is kind of insulting. The phrase you don’t look sick minimizes and dismisses my pain. So, if we just met, and I opened up to you about my painful neurological condition (and I didn’t even mention the other conditions with which I live), please don’t think you’re complimenting me. If you follow it up with “but you’re so beautiful,” you are unknowingly implying that being sick should make me ugly. Maybe you think I’m exaggerating my pain because you perceive me as beautiful. Beauty fades, but my pain won’t.

This letter is not about only me, either. By telling me that I don’t look sick and that I’m beautiful, you are reinforcing the idea that if anyone wants his or her medical conditions taken seriously she should look a certain way. Maybe I should not take any pride in my appearance if I am sick, so your conceptions of illness and my illness will fit together. The preconceived notions of what being chronically ill looks like is what prevents people from seeking the medical attention that they need, receiving the benefits that they deserve, and being treated with dignity. There are people who cannot even get the much needed family support during their illnesses because their families do not understand that being sick can present in many different ways. Sick looks different for different people on different days.

I would like you to know that it probably took me twice as long to look passable for public viewing than it did before I got sick. Instead of wearing contacts, styling my hair, putting on make up, and wearing an outfit that isn’t entirely from the “active wear” department absolutely every day, like I did in the past, I only do that once or twice a month. [Side note: We can talk about the irony of wearing active wear in my condition later.] You don’t see me at home. You don’t see me the way my family does. My situation is so excruciatingly embarrassing that even my doctors do not see all of the pain. My mask is reinforced by years of negative experiences with showing vulnerability. I dread necessary doctors’ appointments because I know that it will mean that I have to take a shower with energy that I do not have.

I only let you see what I want you to see because you would be uncomfortable with the truth. Plus, I do not want to be humiliated. I want to be treated with dignity. So, I only leave my house when I can be presentable, which is not often. Therefore, I become isolated and lonely because I don’t have energy to make myself look like my former self. There should not be any stigma when I can’t wash my hair because I am that sick, but there is judgement because you can’t see my whole story in a glance. That’s why you only see me when I don’t look sick.

If you are another person with Dystonia, I feel really bad for you. We share a common bond, which I thought you would appreciate. But when you tell me that I don’t look like I have Dystonia, just because Botox helps me to hold my head straight for 8 out of every 12 weeks, you are insulting me, too. I am sorry if Botox doesn’t help you hold your head straight, but I experience life altering pain, just like you.

I also want to take a minute to address a few more problems with the phrase you don’t look sick. You may know about my illness from my blog or from me telling you about it. Either way, neither on my blog or in conversation, do I lay out my entire medical history. I can’t even explain it all to a single doctor during an hour long visit, even if I bring notes and timeline. I don’t tell you about the hours and money that have gone into biofeedback and neurofeedback, the tests that I’ve had run, and all the extra things that I require to maintain a manageable pain level. I’ll never tell you how many doctor visits that I average a week or how many pills that I’ve tried and had horrible side effects or allergic reactions. I won’t tell you about the pain of when the doctors don’t know what to do with you — yes, I have been turned away by primary care doctors because I’m too complicated — they either throw a lot of pills at me or they take their frustrations out on me by yelling at me. It may sound crazy to you, but you probably only see the doctor when you have a sinus infection. So, in addition to dealing with pain and being sick, I deal with more frustrations than you could ever imagine. When I first got sick and didn’t understand why the doctors were yelling at me, it felt like I was slowly losing my sanity. That makes me feel even worse. So maybe I brush my hair and try to look ok when I leave the house, but I carry so much pain behind the facade.

When I hold my head straight really quickly, so someone can take a picture, because I’m wearing makeup and plucked my eyebrows for the first time in two months, don’t think that’s my everyday experience. I go out of my way to document the moments that I can enjoy life, so when everyone else is living life, and I am alone in the recliner, I can see some evidence of that one time I enjoyed playing with my dogs at my grandparents’ house.

So, I if you’re a close friend or family member, I appreciate it when you tell me that my voice sounds strong or notice an improvement in my symptoms. But, if I don’t know you or you don’t think I look sick, you aren’t complimenting me.

Thanks,

Sarah

Related Posts:
Rethinking Hospitality (for the Chronically Ill)
Cervical Dystonia
Managing Cervical Dystonia Pain
Invisible Illness

Categories: Cervical Dystonia, EDS, Sick Tags: , , ,