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Trigger Warning: Child Abuse, Sexual Abuse, Medical Trauma

Hello, everyone! I know it has been a very long time since I wrote to you here. One of these days, I will be able to tell you the entire story of why I haven’t been able to be as open to the world as I used to be. For now, I will tell you the vulnerability I have always cherished in writing was used to try to fight a battle I didn’t think could possibly hurt me more than EDS does. I didn’t expect what happened after, the publicity, the sudden move away from my home, and ultimately, some really severe PTSD I’m still not quite sure how to handle. For most of my life, I wanted people to know my name and to fight for what I believed in–until my name and fighting for what I believe in almost destroyed my life. I’m doing a lot better now than I had been. I have had a lot of help and support from a lot of people, many of them in this community–and I so appreciate the patience people have had with me as I have tried to navigate venturing back out into the public. My passion has never wavered, but my abilities and my needs have.

May is EDS Awareness Month, as most of you know. I posted a photo in my Snapchat story last night with the caption “Thanks, EDS” and giggled a little with my husband about it. Tammy (our wonderful leader) saw it this morning and mentioned I should share it with you for awareness this month. She was right. The picture is funny if you KNOW you have EDS. Your legs probably look like mine or at least they have looked like mine and they will again. It’s not so funny if you don’t know you have EDS and has the opportunity to educate a lot of people. So, here’s the photo:

Just a Regular EDS Night

I remember growing up and getting hurt many times. It seemed like I was spraining joints more often than I was taking spelling tests. The nearest ER was a frequent stop, so much so I think we had a running joke about a punch card for a free visit after ten stops. Back then, though, I was just a kid, covered in bruises, hurt again. I wasn’t diagnosed with EDS until March of 2016, when I was 25 years old. I always knew what was coming when we went for these visits. I would wait for the worst part. They would ask my mom to leave the room and then ask me questions to make sure I wasn’t being abused at home. Make no mistake about this: recognizing the signs of child abuse is an absolutely critical part of medical care. It was challenging for me because I am the victim of child molestation and I waited 11 years to come forward about it. When they wanted my mom to leave the room to ask me about whether or not she was safe, I was afraid they might figure out the other “thing” or take me away from the person who did keep me safe, the one who kept taking me to doctors no matter how far away the drive, no matter how many of them told her I was fine. I knew she was getting asked questions in the hallway. I knew they were looking for differences in our stories, keeping track of how many times I’d fallen off my bike. I remember even at 13 years old being confused about why she would bring me in covered in these bruises and asking for help if she were trying to hide something.

I wish my mom had known then what we know now and could have advocated for me. When my husband and I go to the ER now, which we still avoid but now only for a lack of knowledge about the more rare of my conditions, Hypophosphatasia, we are able to have them access my electronic medical records to see that I am a patient with Ehlers-Danlos Syndrome. My pain specialist makes himself available for calls about the condition in case they do have questions about the easy bruising. You see, I don’t know where one single one of these bruises came from. My husband is a VERY patient man who would never in a million years lay his hands on me, but I also could literally bump into him when walking across the living room and end up with one of them. I have bruised myself with one of the worst bruises I have ever seen from my own wheelchair, a device meant to limit injury to my person.

Why am I writing this now? I want people who might have legs that look like this to know what to ask their doctors. I want them to know the questions to ask that my mom didn’t know to ask and NOT for lack of trying. We had no idea what EDS was. More than that, though, I want doctors to know what else might cause someone to look like this. I want them to know it is so important to know the signs of abuse, but also to know how to test for conditions that might make me look like this from absolutely nothing abuse-related. I want them to understand this could be caused by the patient’s DNA and a bump into a kitchen counter. None of these bruises hurt when they happened or I would know where they came from.

Maybe the patient who is constantly in the ER with seemingly silly explanations for their injuries, like falling up the stairs (I can’t remember how many times I did that) and also with bruises on them like this also has stretchy skin, hypermobile joints, migraine headaches, and chronic pain. Maybe, that ER doctor could answer their questions or refer them to someone who can before they’re 25 years old and convinced they’re crazy. Maybe that child won’t be afraid about when their mom gets called into the hallway because their mom will already know to tell the physician that since the last visit, they saw another doctor and now they know the child has Ehlers-Danlos Syndrome, which is what is causing the easy bruising and susceptibility to injury–and the medical records will support that and eliminate the trauma of that fear.

The bruises aren’t fun,  but the bruises on our mental health from not knowing for so long are much worse. You can’t see collagen, but there are visible signs of the defective version.

Thank you again for your patience, support, and love. I am blessed to be in a community of people who support each other no matter what. I look forward to writing to you more again.

-Stephanie

PS: To brighten the mood after such a tough topic, here are cute photos of my dogs:

Essex “Boo Boo” Vander Paws

Aura Charlotte Vander Paws

Karina, a woman with short, brown hair and a pink flower in her hair smiles slightly. She is wearing big, black glasses and a red jacket

When I became acutely ill in 2010 with symptoms related to cervical spine instability, I fell into a big hole and didn’t quite know who I was anymore. I had to give up my job in research and couldn’t do most of the things I loved. For a long time, I struggled to find a new sense in life, something that gives me hope and purpose. 

And then ’We Are Visible’ happened! When I started to study in a journalism degree in Edinburgh, Scotland, I immediately knew that I wanted to produce a documentary film for my MA thesis. Even though I had never filmed before and didn’t know much about filmmaking, I felt that it would work out if I just put all my heart in it. And I certainly did! 

With my film ’We Are Visible,’ I wanted to give a voice to an often neglected minority: People with invisible disabilities, specifically people living with Ehlers-Danlos syndrome. I am part of this community as well, and therefore  see it as my responsibility as a filmmaker and journalist to change misconceptions surrounding invisibly disabled people. 

”How can you be sick if you look totally fine?” is one of many hurtful comments people in my community have to hear on a daily basis because you can’t see their disability from the outside. Journalists and filmmakers alike talk about these people but not with them. I wanted to change this, so ’We Are Visible’ directly involved all of its contributors in order to represent this community in an accurate and truthful way. 

’We Are Visible’ shows people living with the invisible condition Ehlers-Danlos syndrome all around the globe and therefore conveys its diversity by following families in England, Malta, Germany, America, Holland, and Belgium throughout their daily lives.

’We Are Visible’ wants for the non-disabled audience of this film to understand more about the invisible condition, and for disabled viewers to be able to relate to people with a similar disability because there is so much more that unites than what separates us! But most importantly, it emphasizes not only the challenges we face every day but also the incredible strength every person with EDS has in order to cope with all those obstacles.

 

Pencil like drawings of all the faces of the main contributors of We Are Visible.

We Are Visible – Open Your Eyes

 

Details about the Film

SYNOPSIS:

“But you don’t look sick!”

‘We Are Visible’ gives a voice to a neglected community: People living with invisible disabilities, specifically in the context of the rare condition Ehlers-Danlos syndrome (EDS). It showcases the challenges this community faces due to misconceptions surrounding invisibly disabled people and conveys the strength and resilience with which this community fights to become seen. Our condition might be invisible, but we are not!

We Are Visible

SCREENINGS of the film:

In January, there will be screenings in Rhode Island, Colorado, and a larger one in Orange, California. If you want to join any of those screenings, have a look at the Event page: https://we-are-visible-film.com/events/

Duration: 

69 minutes

Director, Producer, Editor

Karina grew up in Germany but currently lives in San Francisco, CA. After finishing school, she has worked in the medical field for eight years. As a laboratory technician, she worked in a German research facility with a focus on biotechnology. In 2010, she developed symptoms related to Ehlers-Danlos syndrome and comorbid conditions and was unable to continue her research. She soon found her passion for writing and started to combine her medical knowledge with her personal experiences with disability and chronic illness and produced articles about medicine, science, and disability. 2018, Karina was accepted into a journalism program in Edinburgh, Scotland, and has been studying ever since. As part of her degree, she has worked with blind journalist Belo Cipriani and produced three accessible short films called ”Firsts” that feature writers with different disabilities. Additionally, she writes for an Austrian magazine for medical professionals with a focus on the patient’s perspective, and she has also written for international publications such as the Columbia Journalism Review. Besides journalism, Karina has a strong passion for all activities that involve being on or in the ocean. She loves traveling, dogs, facts, and Heavy Metal music, and hates lies, intolerance, and cooking.

More about the filmmaker: www.karina-sturm.com 

Trailers

Trailer 1

https://vimeo.com/349770539

Trailer 2

https://vimeo.com/349770866

Tailer 3

https://vimeo.com/348046371

 

Find out more:

IMDb

https://www.imdb.com/title/tt11100592

Official Website:

https://we-are-visible-film.com

Facebook:

https://www.facebook.com/karinasturm86/

 

Flyer for 'We Are Visible' featuring black and white pictures of the main contributors, all women and two children, as well as film award laurels, and the synopsis of the film.

We Are Visible – A film about people living with Ehlers-Danlos syndrome

I post a lot online. For some people, it’s probably annoying or way too much. For others who share my condition or have family members who share my condition, it’s probably comfort. For others, they probably just don’t feel much of anything about it. Honestly, I don’t much care where you fall on that spectrum–and I don’t mean that in a rude way. I do it for two groups of people: myself and the people who need the words I write. Everyone else knows how to avoid reading them.

I wear makeup to the emergency room…I don’t know. Sue me.

I was in the hospital most of yesterday. It’s not the first time that’s ever happened. My husband couldn’t be there with me, because he had to be at work. I have some complicated issues with my ovaries and uterus that are causing intense pain and major symptoms in my life that frankly, none of you want to hear about.

Here’s the problem, though. I hear this all the time. I get told this all the time. It’s one of the comments I read the most on my Instagram posts and blog and other internet formats. “How are you ALWAYS happy and positive?”

I am absolutely, in no uncertain terms ALWAYS happy or positive. In fact, if you asked my husband, he would probably laugh so hard at you about that he would end up on the floor. Not only am I just NOT ALWAYS happy, I have clinical depression and severe anxiety. I am medicated for both and despite medication, I still feel them. I work with a psychiatrist and I talk about how I feel and I have yet to make it through a therapy session without crying and saying “not fair” at least once.

So, how am I smiling frequently? Are my positive posts lies? Am I always sad and crying?

No, that’s not the case either. I genuinely believe I was put on this earth with this chronic, incurable condition to help other people. I have a positive attitude about it a lot of the time. I have moments when I scream and yell and cry and use words that are not appropriate for a blog or for children…but I also have moments when I read the words other people comment on the work I’ve done with EDS Wisconsin or the posts I’ve done myself and I remember what I can do with the situation I’m in. I remember there are young kids looking at me and thinking about what’s going to happen to them when they get older and I hope what they’re thinking is that it’s going to be okay. I hope they notice that I have a wonderful husband and a supportive family and two adorable dogs and I served in elected office starting when I was only 20 years old and they realize that even if they’re sick, they can still have fulfilling life. I hope they forgive themselves for the moments they are angry at the world for giving them EDS but also find joy in their uniqueness.

I mean, look at her face. She can brighten any day.

I’m different from most other people. I’m different not just because I’m sick. I’m different because I can write and I know every word to every Taylor Swift song ever written and I can paint tiny artwork on my fingernails. I’m different because my mother tells me I’m the only person she’s ever known who’s actually uniquely talented at coloring. I’m different because I have a tattoo of my dog’s crazy big ears on my left shoulder and a tattoo in memory of my wonderful grandfather on my right wrist. I just also happen to have really crappy collagen that means I sometimes use a wheelchair or the most blinged-out crutches you have every seen.

I am not always positive. EDS is not even a little bit fair. I wouldn’t change my life for anything; I love who I am–and I can feel that way while also knowing I wouldn’t wish EDS on anyone else in the world. I may not always be positive, but I am positive I wouldn’t want to be anyone, but the Taylor Swift-loving, puppy-cuddling, has way too many bottles of nail polish person I am.

I’m just me. Positive, negative, me.

If you read this and if you are in my shoes, please remember what I always say about self-pity and sadness:

It’s okay to visit…as long as you don’t unpack and live there.

I said something tonight I bet people all over America say routinely on Sunday nights. I said, “I’m not ready to Monday tomorrow.” It’s a quirky statement usually meant to imply the weekend needed more hours to do all the fun things people love about weekends, not working, sleeping in, staying in comfortable clothes, being with family, or going places you aren’t able to go when you are obligated to be at work.

What did I mean tonight? My pain all weekend has been absolutely excessive. When I say excessive–I mean, normal people would absolutely not go to work, describe it as a 9.5 on the pain scale, use every tool in the pain toolbox kind of pain. I mean, I literally do not know if my body is going to wake up at all prepared to handle the things I need to do tomorrow.

When I woke up in immense pain today, it was okay. I could stay in bed longer. I could keep the same clothes on longer. I could get a hot bath at 10am while my husband walked the dogs and eat leftovers for lunch, just enough I wouldn’t get sick from the pain meds I needed today. When the pain got worse this afternoon, I could curl up with my dogs on the couch and binge watch something on Netflix while eating a Blow Pop because hard candy calms my nausea. I could relax while my husband cooked dinner even though I prefer to cook for him, because he knew I was in too much pain to cook.

Essex and Mama spent a lot of time cuddling this weekend. Thankfully, she and her sister are very good at taking care of their dog mama.

Tomorrow, Monday, if I wake up in immense pain–an alarm is going to go off. I might be lucky enough to hit snooze, but I need to make a 90 minute drive tomorrow, which means putting pressure on my spine, the part of my body that causes me the most discomfort. I’ll have to put on nice clothes and enough makeup that hopefully customers who see me can’t tell I’m in pain, even though I’ll have to use my wheelchair. They’ll probably ask about it–I’ll have to resist the temptation to respond with sarcasm, because truthfully when you’re in immense pain, it’s VERY hard to stay in a good mood–or not be frustrated with able-bodied people who aren’t sharing in that pain.

Here’s the thing, though. I’ll do it, because I do it all the time. If you don’t have EDS or a chronic pain condition, you probably can’t even fathom this. If you do, you aren’t surprised by this. You do the same thing all the time. It’s less of a “look better, feel better” concept and more of a “fake it til you make it” reality, because if we stayed in bed every day our pain rose above a 5 on the pain scale, most of us would have bedsores.

I’m working on being aware of how my pain affects my mood. I’m working on how to make my pain better. It’s hard when you have tried as much as I have. It’s harder when you think about those 25 years a doctor didn’t tell you what was wrong and all the damage you could have prevented. It’s challenging not to wonder if dreading morning alarms would happen less often if we had known when I was in kindergarten instead of when I was old enough to teach it.

So, my friends, if you’re reading this and you’re worried about whether or not you’re ready to Monday–or if your body can even handle Monday, you are and it can. You are so, so strong. No matter what it takes to get through the day, whether that’s taking an extra five seconds before responding to a question or promising yourself a hot bath after the day, you will get through it, because we always do.

I haven’t written here for a while because truthfully I haven’t been up to it. I’ve always been someone who finds a lot of comfort in working hard and my doctors forced me to take a medical leave because we can’t control my pain. So, I’m on week two of a four week leave from my job. Now, instead of spending my days working and contributing to my office—I’m spending my days on the couch and taking extra naps with my dog. This gives me a lot of time to think and ponder—and I’ll be getting to those ponderings VERY SOON. But first,

Taylor Swift (I know, I have a one track mind, but hear me out) has a lyric that says “Wish you could go back and tell yourself what you know now.” It’s about thinking you’re in love when you’re in high school and the decisions you make around that love.

In my life, though, it’s more about wishing I could go back and scream into my own ears “ASK YOUR DOCTOR ABOUT EDS; TELL HIM THIS IS WHAT YOU HAVE. TELL HIM NOT TO CUT YOU OPEN UNTIL HE FIGURES THIS OUT. MAKE HIM STOP.”

Today, I had a doctor’s appointment, so I had to leave to drive to see my doctor to discuss things. The specifics of what happened aren’t important. What is important, though, is when we got to a part of our discussion when he said, “This is something that should have been done for you at least fifteen years ago. This is a series of tests that should have been done for someone with this sort of condition at least by your early teens. We would have known then. We could have done more.”

It’s been a little over two years since my diagnosis and this is probably the fifth or sixth time a doctor has been this blunt about the nature of a need my body has. Not understanding what was happening in my body for so many years means that we did not get the treatments I could have had. We did not see the doctors I could have seen. My mother did not know. She could not ask the questions. She could not help. I call these situations the “Should’ves, Would’ves, but Didn’ts.”

It goes something like this: We should have (should’ve) done <insert medical concept here> for you. It would have (would’ve) allowed us to <insert medical result here>. Unfortunately, we did not (didn’t) know of your diagnosis at the time, so we must now follow through with <insert updated version of medical concept here>.  Voila! A formula for Should’ves, Would’ves, but Didn’ts!

I don’t know when you get over them, but I do know they continue to affect EDS patients for a long time. I do know they play a critical role in the damage to our bodies for longer than we like to admit.

I’m not a doctor. I can’t give medical advice. I won’t give medical advice.

I will tell you these things, however.

If you are NOT in the EDS community:

  • If you have ever wondered why it is that I speak and write and share so much about my health—it is because all I seek to do every single day is prevent another 27 year old from wondering what her life would be like if those tests had been run when she was 12.
  • Sometimes we need extra support at doctor’s and after them. If we ask for you to join us, please do. Other times, we really prefer to go alone. Please respect that.ves

If you are in the EDS community:

  • It’s okay to need time to process that you DIDN’T have those things done for you before. I am a FIRM BELIEVER in crying in the car after the doctor. I BLAST Swift and cry on the road from Madison to Whitewater so often you’ve probably heard me at some point on I-90.
  • Once you have a diagnosis, you have a responsibility to work for the answers you need. You have to learn to be your own advocate. You can’t expect doctors to just KNOW what you need if you don’t tell them.
  • The best way to prevent future “Should’ves, Would’ves, but Didn’ts” is to get educated. EDS usually is like this fun game that includes a bunch more diagnoses. They don’t always have the time to teach you everything in a single appointment. Educate yourself. Seek out resources. Speak with others in the community. ASK QUESTIONS.

Just like Taylor wished and couldn’t, you also can’t go back and tell yourself what you know now. You can make sure you’re seeking out every single opportunity in your present. Come to our support groups. Read our blogs. Become our friends. Ask us questions. Let us help you. We promise that’s what we want to do. We promise we won’t judge your situation—ever.

You aren’t alone–we promise!

 

 

 

Why is collagen so important, anyway?

By Guest Author, Samantha Geiger

Hey everyone! Before I dig into some science, I’d like to take a second to introduce myself. My name is Sam and I’m a veterinary medicine student at UW-Madison (I also have a BS in microbiology and genetics), science enthusiast, and fellow zebra. I’m very passionate about science communications and making difficult-to-understand concepts more accessible to people with non-scientific backgrounds. When it comes to EDS, I strongly believe that understanding the biology behind the disease empowers patients and allows them to ask their doctors the right questions to get proper care. Additionally, I want to provide resources for medical professionals so they may learn to care for patients with diseases they may not be familiar with – I’ll be leaving citations at the end of each post for this purpose. I’m exceedingly grateful to EDS WI, Inc. for giving me this opportunity. As this is my first post, I thought it would be fitting to discuss what collagen is, why it’s so important, and why it can cause different manifestations amongst EDS subtypes.

I also want to take a second and clarify a critical point: genes set the template for the body to make proteins, and proteins are the workhorses of the body. Proteins are what actually “do” things and carry out a function. If you have bad blueprints – mutated genes – your body doesn’t make a normal protein. Sometimes, like in the case of EDS, these abnormal proteins can have noticeable effects in the body. Proteins are made in different parts of the body at different levels due to a mechanism called “gene expression.” This is why you have nails at the end of your fingers instead of on your forehead!

Most of us know that collagen is a foundational protein found throughout the body and that it’s essentially a “building block” for different structures, but did you know there have been 29 different collagen proteins identified to date? Some of them are more common or have a bigger impact on the body when they don’t work properly compared to others. The first five types are perhaps the most important and well-understood:

  • Type I collagen is by far the most common in the body and makes up parts of your skin, tendons and ligaments, blood vessels, and bones. It often works in partnerships with other kinds of collagen.
  • Type II is a huge component of cartilage.
  • Types III, IV, and V help anchor cells to each other (using what’s called a “reticular fiber”) and to other types of tissue, in some cases forming barriers called “basement membranes” underneath layers of cells. These collagen types are important for microscopic, cell-to-cell activity.

As you can see, each collagen type has its own job to do, which is why there are different subtypes of EDS that can be described by which collagen protein isn’t working. For example, mutations in type III collagen can cause vEDS. This makes sense because the fibers type III makes are critical for forming the architecture of the heart and major blood vessels and give them the ability to stretch and accommodate changing amounts of blood.

Some types of EDS don’t have collagen mutations at all! In these cases, proteins in the body that have to work with or use collagen are mutated and lose their ability to do their jobs. Essentially, the body’s collagen is fine but it can’t be used properly. In periodontal EDS, C1R, a gene involved in a specific part of the immune system, is mutated and collagen is normal. However, the culprit protein uses collagen to make itself. When C1R can’t do its job, the mouth ends up becoming very inflamed, which can cause dental problems.

We’ve all heard the metaphor that likens collagen in the body to building a house. If you have a crummy foundation – mutated collagen – the house will probably wear out more quickly than it should. To add some nuance to the metaphor, imagine collagen is the wood you use to build your house. It forms the walls, the roof, the floor, and maybe some structures inside like cabinets and doors. All in all, pretty important structures to have in a place to live, right? If all of your wood is bad, it’s going to have pretty serious effects throughout the house. Maybe only the wood you use for your roof is bad – your walls will still stand, but maybe some rain leaks in through the ceiling. Maybe your carpenters don’t know how to use the perfectly fine wood you bought, and that’s the reason your floor caves in.

Thinking about collagen this way can be a really helpful tool for understanding why different types of EDS exist. There isn’t just one type of EDS, just as there isn’t one purpose for the wood you buy to build a house. Medically, you don’t treat similarly or lump together patients with different types of EDS, much like you don’t have your carpenter install your plumbing.

*Disclaimer: I am not a physician, and I am not qualified to give anyone advice about their medical condition. All posts written by me are strictly meant to inform and empower patients and medical professionals alike, with information they can use to better communicate with each other. If you have questions about your condition, please ask your doctor.

Citations:

https://www.ehlers-danlos.com/eds-types

Preparation and characterization of the different types of collagen. Miller EJ, Rhodes RK. 1982. Methods Enzymol. 82 Pt A 33-64.

Collagen: a overview. Miller EJ, Gay S. 1982. Methods Enzymol. 82: 3-32.

Elastic and Collagenous Networks in Vascular Diseases. Arteaga-Solis E, Gayraud B, Ramirez F. 2011. Cell Struct. 25(2):69-72.

Periodontal Ehlers-Danlos Syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. Kapferer-Seebacher I, Pepin M, Werner R, et al. 2016. AJHG. 99(5):1005-1014.

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