As some of you might know, in October 2019 I started working for The Marfan Foundation full-time as the Director of The VEDS Movement.

I have been thinking a lot about the last three years since diagnosis- where I was then, and where I am now.

What an amazing journey it has been.

When I was diagnosed, I felt alone. I didn’t know anyone else with Vascular EDS, and the Ehlers-Danlos Syndrome facebook group I was in rarely had posts from someone with VEDS.

That’s how the Youtube channel started, about a month after I was diagnosed.

Then I started to meet some AMAZING people. I got connected with Jared, from Annabelle’s Challenge in the UK. At some point I was added into the VEDS facebook group. I talked with Kyle Dolliver from Ryan’s Challenge.

I met two amazing doctors working with people with VEDS, Sherene Shalhub and Peter Byers at UW. I found out they were working on something called the vEDS Collaborative– A research project connecting researchers and patients to drive research in a direction the community wanted it to go. I WAS SO EXCITED. I cannot express how excited I truly was! ALL CAPS does not do it justice.

Shortly after starting with the vEDS Collaborative, I was asked to join their Advisory Board, where I worked closely with John and Dave DeMasi, from Fight vEDS, and Sherene and Peter. I also met many people working with the vEDS Collaborative in the broader stakeholder group- Cathy Bowen, Rachel and Jeremias Tays, Emma and Justin from the Defy Foundation, Abby DeLong, Lara Bloom from the Ehlers-Danlos Society, and many more. I LOVE everyone I have worked with in the Collaborative.

I started interviewing other people impacted by VEDS on the podcast, Staying Connected, in Spring of 2018. To-date, I have talked to almost 30 people about their stories with Vascular EDS on the podcast.

I finally met some of these amazing people I had been working with in July 2018 in person, at the first vEDS Collaborative meeting. It was such a heartwarming and special experience, meeting so many others affected at one time. I loved every second of it. Shortly after the meeting, John DeMasi wrote this heartwarming blog about his experience there. John DeMasi passed away earlier this week, and I have read this blog post over and over again, wishing I could hear his voice one last time.

In 2019 we continued with the vEDS Collaborative and met again in person for another research meeting in August 2019. Many others had joined the Collaborative in 2019, including The Marfan Foundation, and it was a whirlwind of a year! I felt like we were speeding forward to drive research, and we would stop at nothing.

I am going to pause here for a tribute to John DeMasi for what he has accomplished. John had just started his career as a doctor. He helped start the vEDS Collaborative with Sherene and Peter. He started Fight vEDS with his brother, Dave, and they launched an awesome genetic testing program. Overall he was incredibly passionate and had an amazing amount of fire to help everyone affected by VEDS. His legacy lives on in what he has accomplished, and the way he touched everyone’s heart who met him or talked with him.

It is so amazing to me the amount of drive I see in the people I meet in the VEDS community. This community so desperately wants change, and to help each other, and they will stop at nothing.

Which leads me to now.

I am so incredibly grateful to be leading The VEDS Movement and driving forward change and support for this community.

Since the launch of The VEDS Movement, we have started five monthly support groups, launched a website entirely devoted to Vascular EDS, and have been working tirelessly to drive forward change for our community. We were even published in an emergency medicine journal. 

To be leading the Movement is such an honor, and I know that even after I am gone, the Movement will continue to charge forward for this community and carry the torch.

I am so humbled by every wonderful person I have met with VEDS, and the memory of all the wonderful people we have lost. Their memories live on as we continue to make change for others living with this diagnosis.

I hope I am here to do this for many years to come, but I know that if I am not, the fight is not over. This community will stop at nothing to make a difference, and I hold everyone in the community close to my heart.

Much love to all of you. <3

I have Vascular Ehlers Danlos Syndrome. 

It is something I have said many times since my diagnosis almost two years ago. I have Vascular Ehlers Danlos Syndrome. 

Whether I am telling a new friend, a doctor, or an emergency responder, the responses I get are typical. “How do you spell that?” “What is that?” “Got it, Ehlers Danlos Syndrome. Shouldn’t be a problem.”

Explaining this condition has become an integral part of my life. I explain it to the emergency responders for my home and work. I explain it to every new doctor I see. Sometimes I reexplain it to my existing doctors. To the cardiologist who thinks a catheter ablation is “no big deal” with EDS. 

Can it be frustrating? 

Of course.  Because my form of Ehlers Danlos Syndrome, the vascular type, or VEDS, comes with severe complications. Life-threatening complications. It comes with a shortened life expectancy. It comes with a daily balancing act of risk management and quality of life assessment. It comes with a lot of hurt and confusion. With artery ruptures. With organ ruptures. With strokes and sudden death. 

And it comes without a solid management plan. It comes without a treatment. It comes without a cure. It comes without many doctors who know what it means. 

And no, I should not have a catheter ablation. It IS a big deal. 

VEDS is a silent killer. Only those who have been impacted by this disorder scream. It is left out of text books for medical students because it is a rare form of a disorder that is, as a whole, misunderstood and ignored. 

Coming to terms with this diagnosis was one of the hardest things I’ve had to do in my life. Helping the people who love me come to terms with the diagnosis is even harder. 

I live every day with the knowledge that it could be my last day. Could be my last week. 

I know that when my time comes, it will likely be fast, and it will likely be very painful.

How am I okay with this?

I am okay because I know that when my time comes, I have lived my life to the fullest. And the fullest to me doesn’t mean riskiest. It doesn’t mean that I have seen every inch of the world. It doesn’t mean I’ve raised a family. It doesn’t mean I’ve had every experience, or done everything I wanted to, just to be able to say I have done it.

It means I have appreciation for what I have done with my life. I have loved with my fullest ability. I have approached every obstacle and opportunity with everything I have to give. I can look back and truly say I am happy with my life. I am human, and I have made mistakes. I have taken from those mistakes everything I can learn. I know I will make more mistakes, and I will learn from those when I make them. 

I have not let VEDS take my appreciation for life. Life is a fragile thing, and I am grateful for each day I get to be here. I live in true happiness. In acceptance. And excitement for whatever future I get, for however long I get to experience it. 

And I know that no matter how frustrated I get, or how far I am pushed down, I will not lose that appreciation for what my life has been. 

Elastosis Perforans Serpiginosa.

The three words that a dermatologist used to describe the ring-worm-looking thing on my arm that I had struggled with for a over a year. And the first three words I was given that gave an on-paper clue to my Vascular Ehlers Danlos Syndrome (vEDS).

This had shown up on my arm one day in 2012, and was soon in not one but two spots on my arm. Ringworm. Gross.

First I tried all of the over-the-counter ringworm medications I could, with no success. After a while of trying these I went to my doctor. Two different prescription strength ringworm medications didn’t work either.

By this time, several months had gone by, and I was disgusted with myself. My girlfriend didn’t want to touch my arm. I would wear bandaids to work to try to cover it, but after seeing me with bandaids for so long it was hard to hide that something was going on.

I tried scraping and cutting it off, but it would just come back.

I tried wart remover acid several times. Again, it would just come back. So finally I saw a dermatologist.

This dermatologist made me so self-conscious. It took less than a minute for him to look at me and determine I needed to see a rheumatologist.

“What is going on with your hands? Have you been tested for scleroderma?”

“Your hair is really thinning on your scalp, you need to go get some Rogaine for that.”

“I don’t want to do anything until you see a rheumatologist.”

I tried explaining that I had already seen a rheumatologist, and all my tests came back clear years ago.

It was a no-go. Things change after several years, he told me.

So off to a rheumatologist I went. Again.

And again, all the tests came back clear. No scleroderma. No lupus. Nothing.

A few days later I was scrolling through pictures on my old computer and came across a picture of me petting an armadillo.

GASP!

That was several years prior. Maybe I had leprosy!

I call the rheumatologist. He agreed it could be a possibility, since leprosy does have a very long incubation period (2-10 years).

But nope, the test came back negative. No leprosy. DAMNIT.

I did NOT want to go back to this dermatologist. I felt so gross at this point. Scabby thing on my arm…bony, wrinkly, old-looking hands…balding apparently. But with a clean bill of health from the rheumatologist, back I went.

The first biopsy he took came back as inconclusive, so I had to come back for a second one. That was the one that did it. Perforating dermatosis, with something called Elastosis Perforans Serpiginosa (EPS) in the differential. He had it circled on the paper, and thought it fit best out of the three options.

EPS is a skin disorder where abnormal elastic tissue is basically pushed up to the top of the skin, causing reddish bumps in a linear, circular, or serpiginous (snake-like) pattern. This website has some good pictures of it. I’ve searched everywhere for a picture of mine, but it seems I avoided any pictures of my arm for the time that I had it!

So after a year and a half of trying everything to get this thing off my arm, he just froze it off with nitrogen. So simple. He warned it would scar, but I didn’t care. My body is already covered in scars anyway, no biggy! In fact, somewhere around this time my belly button ring had ripped out too. I was no stranger to scars.

He explained that EPS was pretty rare, and was sometimes seen in people with Down Syndrome or Ehlers Danlos Syndrome. He told me I should see a geneticist to rule that stuff out, and I thanked him and went on my way. A few months later I was in a geneticist office worried I had the vascular type of Ehlers Danlos Syndrome, and the rest is history. It wasn’t until several years later that I finally got the genetic test and the diagnosis that confirmed the vEDS.

Ultimately the first on-paper clue was provided to me by a dermatologist. Someone who recognized that I had a bigger issue going on, when no other doctor had taken that step back to look at me as a whole.

At the time it made me feel pretty disgusting, but now I am grateful for that dermatologist. And luckily my EPS never came back after he froze it off. Such a simple solution for something I tried to cut off or burn off myself multiple times between 2012 and 2013.

I’ve been told now it probably wasn’t actually EPS, but I’m okay with not knowing for sure what it was. It never came back, and if a misdiagnosis of EPS is what got me to vEDS several years later then I consider the diagnosis an overall success.

A real win. 😉

Update: I looked hard and found only two pictures of the EPS on my arm. It was truly difficult, as I seemed to have avoided taking pictures of it. Here is one:

I should start this story by telling you I have a cat. A very anxious cat. 

Last year my apartment needed him out of the unit to do some work on the pipes. So I had him boarded for a few days while they did the work. He was not happy.

After the project was over and I had him back at home, I sat in front of the television with a cup of Ovaltine listening to his purr as he sat on my lap.  He was still a little jumpy from the stay at the boarding facility. He did not want to be anywhere more than 2 inches from me. 

I picked up my phone to browse Facebook and accidentally dropped it on him. Clumsy.

I think he must’ve jumped five feet in the air as he quickly escaped the terror of the phone. Pushing off my lap in a hurry to get away, he knocked over the Ovaltine and a picture on the end table.

Damnit. 

I looked down at my lap and saw blood coming through my pajama pants. I immediately applied pressure to it and walked to the bathroom to get a better look.

Okay, let’s see how bad this is. 

Deep cut, fatty tissue hanging out. About 3 inches long. 

Well that’s a deep one. What do I have to clean this up?

Digging through my bathroom, I quickly realized I did not have anything to sanitize this. I had a little bit of gauze left. No hydrogen peroxide. No alcohol.

I need stitches.

…

I just bought my first sewing kit!!! 

….

I don’t have any antiseptics. This is a BAD idea.

Off to the hospital I went, laughing at myself. Was I really thinking about giving myself stitches? 

I got to the hospital and explained to check-in what had happened. “I have this huge gash in my leg. My cat got spooked and jumped off my lap.” They looked bewildered. I smiled.

They asked how big it was, and I told them it DEFINITELY needed stitches.

My blood was already seeping through the little bit of gauze that I had on the wound. I asked an attendant in the waiting room area for fresh gauze, and looked around the room.

The waiting room was full of people coughing and sneezing. One person was vomiting. 

I looked back at him as he handed me the gauze and a wrap. 

“How do I do this without contaminating the wound?”

He looked at me very seriously as he handed me the gauze and wrap. 

“Here’s what I want you to do. Go to the bathroom. Do not touch anything. Do not go into the stall. Do not wash your hands. DO NOT TOUCH ANYTHING. Pull down your pants, take the old gauze off, put the new gauze on, wrap it, and come out. Just don’t touch anything.”

I laughed and smiled at him. 

This is hilarious.

I headed to the bathroom door, putting pressure on my leg with one hand, and holding the fresh materials he gave me in the other. 

I balanced on one leg and brought the other high up to hit the handicap automatic door button with my foot. I smiled as it opened.

I walked into the bathroom and two women were in there talking. 

Good thing I have on underwear! Hahaha.

I pulled down my pajama pants, replaced the gauze, threw out the old stuff, and headed back out to the waiting room, laughing to myself. 

Those people probably thought I was crazy. Oh well. 

Luckily I didn’t have to wait long for them to grab me from the waiting room.

The nurse led me back to the treatment area, and I relayed how my cat jumped off my lap and gave me this cut. Ovaltine everywhere.

I was in good spirits. This was a ridiculous story. 

Someone came in to sanitize and numb up the area, and then I waited for them to come back to give me stitches.

I had to pee, but I didn’t want to risk contaminating this thing. 

I waited for an hour for them to come back and give me stitches. I could not hold it anymore. Damnit.

I called the ER nurse in, and she gave me some gauze to hold over it while I used the restroom. Again, “don’t let anything touch it.”

Cool. I’ve got this. 

Hospital gowns are always too big on me. I tried to bundle all of it into one hand and hold the gauze with the other. 

I don’t have a free hand to wipe with! How am I going to do this?

I tried to carefully transfer both the gown and the gauze into one hand, and reached for the toilet paper with the other. 

I heard a splash. 

The gown had fallen into the toilet. 

Well, shit. 

I removed the gown from the rest of me, finished my business, washed my one free hand, and proceeded to hit the call button. Never removing the gauze. Again grateful to be wearing underwear. 

The nurse cracked the door open. She took one look at me, looked at the toilet, and looked back at me as I smiled at her guiltily. “I’ll go get another gown,” she said. 

The whole experience was funny to me. I finally got stitched up and on my way twenty or thirty minutes later. I am not sure if any of the nurses or doctors really believed this was from a cat scratch. 

15 stitches I counted in my leg. 

15. 

Now that I know I have vEDS, and I know my thin skin is part of my condition, I look back at this story and other stories like it and think it was so obvious.

My dad used to tell me that scars are cool. My entire body is covered in scars. They tell my story.

My belly button ring ripped out when it caught on a counter, I’ve had 12 stitches from a warehouse rehab job I worked on with my dad, I’ve been cut open by bumping into the side of the cooler at the convenience store where I used to work…the stories are seemingly endless. I even cut my knee open on a couch when I was nine. 

A couch. 

My skin is thin on the bottom of my feet too. When I was a kid, I used to marvel at how many rough surfaces my brother could walk on barefoot. My grandparents had a gravel driveway, and he would just walk on the gravel, no big deal.

I can remember trying to persevere through pain walking on the stones barefoot. Thinking if I did it long enough I would be able to do it too. Maybe I would get callused feet and it wouldn’t be as painful. 

I never could. It hurt too bad, bruising the bottom of my feet. 

I look at the bottom of my feet now and see my veins through the thin skin. I giggle to myself. That was a child’s game, and now I know what it all means. 

This thin fragile skin is from a genetic condition. There is nothing I can really do to change it, and it is the least of my worries. 

With the risk of arteries dissecting, or my arteries and organs rupturing from vEDS, I appreciate these signs that were missed before. And while I might be thin-skinned in appearance, I think the frequent injuries have made me tougher when it comes to dealing with new ones. Each injury is story, waiting to be told. 

I woke up at 2:35 am, slightly nauseous. The night before I had been out with my friends and had a few beers. It had been a stressful week, to say the least.

I headed to the kitchen to get some water, and picked up a bottle of Pepcid (which I normally take every morning) and a bottle of anti-nausea medicine. The nausea medicine was prescribed by an ER doc earlier in the year after I had spent all morning heaving water and my stomach bile into the toilet.

Now I was in the kitchen, carefully choosing between the two medications. On the one hand I knew that Pepcid may not really be for nausea, but could still resolve a sour stomach. On the other, the nausea medicine carried a drowsiness and alcohol warning. Always cautious about warning labels, I took a Pepcid and grabbed a glass of water. I carried the other medication in my hand for my nightstand, in case I changed my mind.

I headed back to the bedroom, glass of water and prescription bottle in hand.

As I walked through my bedroom doorway, I suddenly felt lightheaded. Processing this thought was brief, as I soon realized I was on the floor.

The room was spinning. My left leg was gone. Did I have my left arm? Why was it so hard to see? Why am I wet? Did I pee myself? Was I bleeding?

These thoughts flashed through my head in an instant. A stroke. Shit. Today? I was not ready for this.

Calm fell over me. I had to call 911. I had a job to do if I wanted to survive.

My apartment complex has thin walls, and I knew my neighbor is always up late. I called out his name four times, to try to save myself from having to crawl to the phone across the room. When he didn’t answer, it was go time.

Crawling across the floor to the phone felt like a slow motion action scene. Somewhere in me, I knew it only really took a minute, but I was only able to use my right hand and leg to achieve it. During the crawl, I felt shooting pin pricks down my left shoulder, an area that is always in pain these days.

Once I reached the dresser, I started pulling at the charging cable for the phone. Trying to get it to fall to the ground. I still couldn’t lift my head far. The room was spinning fast.

I got the phone onto the ground, hunched over it, and got to work. Using my right hand proved more difficult, as my brain seemingly wanted to text rather than call. I’d hit the button to call, and the messaging screen would show up. This happened three times as it dawned on me that my hand-eye coordination with my right hand was not working.

Breath. Focus.

My hand was consistently going more to the right than I needed it to.

I can correct this.

I felt like I could barely see, and I wasn’t sure if it was because the room was spinning, or if there was something wrong with my vision. It seemed I couldn’t see clearly out of my right side. I was seeing flashes, like my ocular migraines. But it was dark.

I can correct this. I can do this.

I got to the dialer pad.

9.

4.

1.

Nope.

Backspace where are you?

Okay. Let’s try again.

9. 4. 1.

Almost there. Backspace?

9.

1.

1.

I heard the ringer. I had been holding my breath. I let out a sigh.

The dispatcher answered. I replied “Hi, my name is Katie, I live at [address], I need an ambulance, I am having a stroke.”

“Okay, can you repeat the address?”

I obliged.

“Is there a way for us to get in?” the dispatcher asked.

I am alone.

“No, I am alone. My friend at [address] has a key.”

“Okay, can you repeat the address?” Again, I obliged.

Dispatcher, “Can you tell me what is going on?”

I did not want to spend precious minutes on the floor trying to explain. I knew I was having a stroke. I asked her to confirm there was an ambulance on the way. She confirmed. Then I told her in a few words about my left-sided numbness, the room spinning, and my inability to see correctly.

She let me know someone was on the way, and asked if she could hang up.

Terror crept up into my throat for a second as I asked how far out they were.

About five minutes.

Shit.

Okay. It is going to be okay. Stay calm.

I responded. “Okay, we can hang up. Thank you.”

What could I do in the minutes on my floor? I got back to work. I struggled hard with my right hand to get in contact with a friend, my mom, and my brother. Prior to this event, my biggest concern was having an emergency and not being able to tell them what had happened to me.

I hear the ringer. I get a voicemail.

“Hey, it’s Katie. Something happened. I am having a stroke. The ambulance is on the way. I just wanted to tell you that I love you. I will try to keep you updated.”

Repeat for my mom.

Repeat for my brother.

As I was leaving my brother the voicemail, I heard the fire truck roll up. In hearing the fire truck, I apparently missed the “I am having a stroke” part, and left him with “Something happened. The ambulance is on the way. I love you.” I later found this out as we laughed about my ridiculous voicemail together.

I heard the response team try the front door. I heard them go back downstairs. I started feeling a tingle in my left foot. Feeling was returning. Things in the room had stopped spinning so hard as well.

I heard one of the responders say “we can go to the other unit for the key.”

No.

No need to wake up my friend. I could do this.

I had a camper light I kept by the bed in case of emergencies.

I turned it on and held it tightly in my right hand as I started crawling.

I encountered water on the floor, and remembered I had a glass of water with me when I fell. The realization came upon me as I dragged myself through it that I didn’t pee myself. I had spilled water on myself.

Win.

Slow and steady, I got to the front door.

I looked up at the door handle from the floor. I reached up far to unlock the bolt, and opened the door. A wave of cool air rushed into the apartment. Deep breath.

I heard them downstairs, “I think I just heard the door open.”

“Hello?!” I yelled out, “Hello??” The room had stopped spinning, feeling returning to my leg.

They were coming up the stairs. Relief flooded over me as I held the door open from the ground.

They came inside, standing over me as I laid in front of the door with my emergency light. The whole apartment was dark except for my little camper light.

One of them asked, “Can we turn on a light?”

I laughed at his question. “Please do, and if you could close the door that would be great. It is a bit chilly out there!”

They helped me onto the couch and I told them where my emergency book was. I was still seeing flashes of light in my eyes, but other than that the symptoms had subsided.

The ambulance drivers soon arrived as well. I had five emergency responders in my apartment, and they were shocked reading my emergency book and learning about what I have.

Of the five emergency responders standing in my living room, none had heard of my condition.

Laying in the ambulance on the way to the hospital four days before Christmas, I laughed to myself. I already met my out-of-pocket max this year!

The neurologist at the hospital diagnosed the event as a posterior circulation transient ischemic attack (TIA), non-CT. He thought I had a dissection in one of the arteries that supplies blood to my brain stem, but the dissection was so small that it did not show up on the scans. This would explain the symptoms on both sides of my body.

I talked with one of the firefighters later, after I had been evaluated by the hospital neurologist and the TIA was diagnosed.  He was happy to see me, and I explained more about my condition.

He told me if I hadn’t had the emergency book and the sign on my front door alerting them about my vEDS, they probably would not have taken me to the hospital. I look young, and healthy, and my symptoms had mostly resolved by the time they arrived.

Follow-up with my care team included a referral to a neurologist to rule out hemiplegic migraines, which can mimic TIAs.  I am also looking into low-flow TIAs, which have proven difficult to find information about.

Five months later I am still on the waiting list for the neurologist, and grateful I haven’t had any further events while I wait.

I have heard this phrase many times in my life. Variations of the phrase.

“You are your best advocate.”

“The answer is always no until you ask.”

“Ask for what you need.”

During my struggle for a diagnosis I truly learned how to live by these adages. Prior to my neck injury in 2016 I didn’t feel the desperation to keep pushing for answers. I would go to the doctor, the doctor would tell me something, I would either accept it as truth, or figure out it was a misdiagnosis, and then I would move on.

It wasn’t until this severe pain in my neck continued to recur that I started pushing hard for answers.

There were many times where I felt like giving up. Resigned to live a life of chronic pain without reason.

I remember one visit to an orthopedic urgent care clinic vividly. It was my second visit to this clinic and my fourth recurrence of sudden onset severe pain in my neck in six months.

Driving was agonizing. I couldn’t turn my head. I was squinting through pain each time I would drive over a small bump or make a turn. When I finally got to the clinic I was barely holding myself together.

By the time the doctor came into the room to see me, I was laying there on the table trying to so hard to focus on his words through my pain and sadness.

He was telling me there was nothing he could do for me. The scans they had already done before had shown nothing, and physically therapy had not helped.

I felt like I was being treated like an addict. Like maybe he thought I was looking for opioids. I was taking in every word he said through tear-flooded eyes that I could barely see through.

What I really wanted was answers. I tried explaining that I did not want pain medicine. I just wanted answers.

He could not give me answers.

When I got home I felt defeated. I was so close to giving up. I would live in chronic pain the rest of my life, for apparently no reason at all. Such is life.

I was crying on the phone with my mom later, explaining how no one thought anything was wrong, and maybe there wasn’t. Maybe it was in my head.

She said, “Katie, if you really think something is not right, don’t give up until you have the answers.”

So there it is. Don’t give up. Get the answers. Be your own advocate.

An orthopedic doctor, a spinal surgeon, three different family practice physicians, two urgent care clinics, and an emergency room missed my dissected artery.

It wasn’t until I figured out I had Vascular Ehlers Danlos Syndrome (vEDS) and saw a geneticist that I got the answer to my neck pain. And even that was a grueling three-month fight, from the time I realized I had vEDS to finally getting someone to send me a saliva kit in the mail.

There were many times I felt like giving up. Many times I felt like I couldn’t take another breath. I couldn’t fight another battle. I was done fighting doctors. I would resign to depression and pain. A new life.

But I didn’t give up.

Sometimes the answer is there, but you have to dig your heels in hard to get it.

I learned how to take a step back and look at the big picture. The bigger issue, vEDS, was the answer I needed to see the smaller one, the dissected artery. And knowing I had a dissected artery was the answer I needed to finally get on a path of pain reduction.

In my case, I had seen so many different kinds of specialists over the course of my life and no one was taking a step back to see the big picture. What was the mystery that connected all of these problems?

Connective tissue. A genetic defect. Something not acquired over time, but there from the beginning. Vascular Ehlers Danlos Syndrome.

In the end, I had to be the one to step up to the plate. I had to take a step back and look at the big picture. And while the fight for diagnosis is over, I can still dissect an artery at any time. I can rupture an organ at any time. I am a bomb.

There are still many stories that need to be told, and many answers that need to be found.

I have great doctors now, but I cannot and will not stop advocating for myself.  If I ever do it could mean the end of my life, and I am not done writing my story.

Photo credit to Steve Saxton. Thank you!

In the fall of 2017, I was sitting in the ER waiting to find out if I had a dissected artery. A sudden increase in pain levels in my neck made it imperative to rule out a dissection.

My new vascular surgeon had recently discovered my pseudo-aneurysm in my left internal carotid artery, and I had happened upon a diagram of the Circle of Willis. The Circle of Willis is a diagram of the arteries that supply blood to the brain and brain stem.

When I first saw the diagram, I thought it looked like a cute little person.

Now in the ER, with hours to wait and a sketchbook, I created my own Willis, complete with a pseudo-aneurysm. Shortly after this ER visit, I started making comics of Willis. On this page, I have posted my drawings of Willis for you to enjoy!

The first drawing:

Willis enjoys Spring:

Willis goes Trick or Treating:

Willis’s Christmas

Willis makes a wish:

In January of 2017, I was sitting with my brother over lunch and updating him on my medical situation. I had been living through a year of severe neck pain that came on suddenly one morning in 2016. My doctor diagnosed it as a muscle strain, but it wouldn’t get better. I was on a roller coaster of recurrence. It would seemingly heal, and then I would be knocked down with severe pain again. 

Several urgent care and ER visits later, my doctor was working me up for possible Thoracic Outlet Syndrome, and sending me to a physical therapist, a nerve conduction study, and a vascular surgeon. The nerve conduction study would test for damaged or pinched nerves in my thoracic outlet, the pathway of blood vessels and nerves that travel between the collarbone and the first rib. The vascular surgeon would do a work-up to determine if I had any veins or arteries constricted in this area. My brother looked at me and joked “well, they won’t even have to do any scans for that one since you can see through your skin!”

It was true. I have always been translucent, my veins on my body a map visible for anyone to see. 

I laughed. 

Later that day I sat down and thought about what years of doctors could have missed. I had always been in and out of doctor’s offices, seeing various specialists for migraines, vertigo, heart palpitations, gastrointestinal issues, skin disorders, suspected autoimmune disorders, and growth deficiency as a child. In the last year alone, I had seen multiple physicians, urgent care clinics, and ER doctors for my neck.

A few years prior to this conversation with my brother, a dermatologist told me about Ehlers Danlos Syndrome (EDS) and recommended I see a geneticist to rule it out. A few months later I was in a geneticist’s office. I thought it was the best appointment of my life. I told her all about my medical history, and told her I suspected the vascular type of EDS. I showed her my double-jointed fingers and toes, my translucent skin, and old-looking hands and feet. I described my medical history. She did what I know now was a clinical work up for the most common types of EDS. She explained after the assessment that I did not meet the criteria for EDS. I asked her about the vascular type, and she told me I didn’t need to worry about that type because no one has it. I did not fit the criteria for EDS, so no genetic testing was performed. 

So here I was, sitting in front of my computer after lunch with my brother several years later. I decided to look into it again. I was terrified when I realized I fit almost every minor diagnostic criteria for Vascular Ehlers Danlos Syndrome (vEDS). I was certain this is was the answer, and this time the severity of the condition sunk in deep. 

I spent the next three months trying desperately to get my doctors to order a genetic test, while also trying to resolve my neck pain. Physical therapy made my condition worse, and I realized that yoga did as well. My doctors agreed there was something to the possibility of vEDS, but no one felt comfortable ordering a genetic test. The genetics lab agreed to accept a blood sample if my doctor’s office took the blood draw. After a month and a half of trying to coordinate this with my doctor and getting him in contact with the lab, he told me he still didn’t feel comfortable ordering the test. That was a geneticist’s job. 

I finally got on a waiting list with a geneticist for vEDS, but that waiting list was a year out. A year without the support I needed. I was terrified. 

In a last ditch effort, I called the geneticist I had seen a few years prior, who was now close to 3,000 miles away. I explained that I had moved out of the state, and described what was going on. I begged the medical assistant to pull my file and look at the notes. I felt like a walking bomb, my insides literally ready to explode and no one to help me.

I got a call a few days later and was told I would be receiving a saliva test kit in the mail. A saliva kit. All of this work for a little saliva test. 

When the test came back positive for a pathogenic mutation in COL3A1, the gene correlated with the production of Collagen 3, supporting a diagnosis of vEDS, I was both relieved and devastated. Everything in my life was suddenly explained by this underlying condition that years of doctors had missed. A mutation resulting in faulty collagen throughout my body. Collagen that holds everything together. 

The geneticist I was on a waiting list to see was suddenly able to see me in two weeks for an emergency appointment. I was finally going to get set up with the care team I needed. 

On the other hand, I suddenly had confirmation of a deadly genetic condition with no cure or treatment. A genetic condition that could cause spontaneous ruptures of almost any artery or organ in my body, complete with a significantly reduced life expectancy. 

In the year and half it took to diagnose my neck pain as a dissected artery, I had been to the ER and urgent care clinics five times, had seen three different physicians, been through six weeks of physical therapy, endured six months of yoga, a nerve conduction test, and two different ultrasounds of my arteries. The dissected artery and resulting pseudo-aneurysm was finally confirmed with a CTA scan in September of 2017.

At the time my vEDS diagnosis was confirmed, I had just turned 28 years old.