I have a genetic defect—and I'm happy about it?! (Ep. 69)

Today, we’ll talk about my health again, but finally with some good news: We have solved the medical mystery. 16 years of searching, and we finally figured it out. Or rather, I figured it out and searched for the right specialists to confirm. Genetics came in yesterday, and it’s official: I have classical Ehlers-Danlos syndrome.

Over the past year or so, I’ve shared quite a bit of my health journey with you. A few times, doctors were certain, they had found the definitive answers. Some doctors did more harm than good—well, many of them. Each time we made actual progress, it was me who came up with a suggested diagnosis, and from there it was mostly a matter of finding a specialist who could diagnose me officially.

I’ve been gaslighted by doctors and society that I am just “paying too much attention to myself” or “it’s all in my head.” I’ve been told I’m exaggerating, making things up, or that it’s merely my mental health manifesting into physical symptoms. And while mental illness is a valid diagnosis, it should not be applied in lieu of looking for answers. People, especially women and people of color, get misdiagnosed all the time because doctor just stamp them with stress or depression. Stress, burnout, and depression are real issues countless people struggle with every day, but it helps no one—neither those who get the stamp wrongly nor the actual sufferers—to misdiagnose people out of laziness or due to stereotyping.

Back in 2019, after talking to a friend, I essentially self-diagnosed endometriosis, and then had to fight an uphill battle to get a diagnosis from a specialist. In 2020, a day before Christmas, which is apparently a day no one wants to get surgery, so it was available rather short-notice, I got operated, and they found, removed, and confirmed endometrial tissue. I was sent home without any information, a recommendation to keep going with the Mirena spiral—despite the cramps and cysts it caused—and no plan for the future.

After that, for a while, I kept trying to fit all my symptoms onto endometriosis, but things just didn’t fit.

Weeks after my operation, I slowly returned to exercise, but my body was weak, and I’d lost all that hard-earned progress of years of yoga, rock climbing, and swimming. I was in shit shape. And things just kept getting worse. I was hurting all over, lost 1/5 of my body weight until I was officially underweight, but kept getting dismissed by doctors.

I switched from GP to GP to get answers, but after a few visits, they all started to tell me it was just stress, I was exaggerating, that whole spiel. So, I kinda gave up. But, I kept getting worse, couldn’t even exercise anymore, and as school kept getting more demanding, I kept getting more limited. It was a nightmare.

Again, I kept pushing for answers, returning to my GP frequently, got misdiagnosed with fibromyalgia—generalized pain in joints and/or muscles without a real explanation. For most people with fibromyalgia, it’s a symptom, not a diagnosis. One day, my wrists were hurting so fucking badly, that I had to see my GP, but he was on vacation again. Doctors seem to get a lot of vacation time, in my experience. Anyway, while the doctor I saw instead wasn’t any good, the referral to the rheumatologist he wanted me to see included the diagnosis “hypermobility.”

What? I didn’t know I had a diagnosis for that? I checked with the GP, and they told me the orthopedic doctor had diagnosed me with it the year before. Apparently, it didn’t fit the narrative of my GP, and he never told me.

So, naturally, I switched GP immediately, but also did a shitton of research on hypermobility. I initially looked into Hypermobility Spectrum Disorder, after all that was what I’d unknowingly been diagnosed with. But one thing led to another, and things fell into place.

A new dentist I went to see about jaw issues not only diagnosed me with TMJ (transmandibular joint dysfunction), but also suggested looking into something I’d never heard about before, Ehlers-Danlos syndrome. The next day, at a routine checkup with my OBGyn, she couldn’t find one of my ovaries. Apparently, my intestines had sunk and were blocking the view. She, completely unprompted, asked if I had a connective tissue disorder that might be causing this. She also finally referred me to a specialist to talk about a hysterectomy to get rid of the monthly ordeal endometriosis is causing me, so wish me luck with that. Somehow, doctors always try to convince me I’ll change my mind about wanting children. It’s ridiculous.

Anyway, Ehlers-Danlos syndrome. There is quite a bit of overlap between the Hypermobility Spectrum Disorder I’d been diagnosed with and Ehlers-Danlos, and a few days obsessing over the disease later, I was convinced, I’d finally found the answer. I told my mom, and she revealed that my grandma had similar issues, but that she couldn’t remember the diagnosis, adding family history to the whole mess.

I found a new GP, went to see him, and actually didn’t get dismissed. I went there with the diagnostic criteria for Ehlers-Danlos printed out, prefilled, and video and photos to prove some of the symptoms. And he didn’t dismiss me. Instead, he ordered all the necessary tests, prescribed me the wrist braces I had needed urgently, but couldn’t get from my former GP, and also got me physical therapy.

Part of the diagnosis process is something called a Beighton score. It’s essentially a pretty weird, limited test that checks if you are hypermobile in certain joints. It checks little fingers, wrists, elbows, knees, and the spine. So if you are hypermobile in e.g. your shoulders, that doesn’t count. There are also a bunch of other criteria, as the Beighton score essentially just shows hypermobility, but that was the first step. My GP was impressed with my preparation. I’m glad he didn’t take it the wrong way. Coming overly prepared can go either way, in my experience.

As expected, the regular blood work all came back perfectly healthy.  I guess, my diligent supplementation of nutrients is paying off. Fuck, I’m even drinking liquid meals now to get my calories up. And I’ve started physical therapy, where I learned that I apparently do a lot of things wrong, that you’d think are impossible to get wrong. Think you know how to sit and stand and walk, Kate? Think again.

The genetic testing finally confirmed the answer to an at least 16-year long search: I have a mutation of the COL1A2 gene and another in the COL1A1 gene. I have classical Ehlers-Danlos syndrome, along with quite a few of the typical comorbidities. So, what does that mean?

I have EDS, to be precise, I’ve got the classical subtype. EDS is a connective tissue disorder with a few different subtypes that are all related but somewhat different. If you are not sure what connective tissue is, don’t worry. Let me explain. There are four types of tissue:

  • Nerve tissue, which transmits information through the nervous system.
  • Muscle tissue, which contracts to allow you to move.
  • Epithelial tissue, which creates a barrier around spaces in your body, well, and your body. Your skin is an example.
  • Connective tissue, which supports and connects other types of tissues.

Connective tissue really is everywhere in your body, and in people with EDS, the connective tissue is following a wrong genetic recipe to make it. Depending on the subtype, different collagens are affected, causing different expressions of the same disease. I only ever considered the classical and hypermobile types, so I am not the right person to educate you on the other types. But some types affect the organs more, some types your heart.

My type of EDS causes both hypermobility and fragile vessels. Hypermobility is not the same as flexibility, by the way. Flexibility is muscle-related, while hypermobility is joint-related. You can even be hypermobile and not flexible at all.

As the connective tissue is too loose or there is too little, the joints have too much play. In a normal joint, connective tissue lines the joint and the bone attaches there. If there’s no connective tissue, too little connective tissue, or it’s too weak, the bone can move around a lot more in the joint. That can cause all kinds of issues like frequent dislocations or subluxations, so partial dislocations, but also a shitton of unnecessary pain.

Because bodies are impressive, they figure out how to work around the issue. When the body figures out it can’t rely on the joints to do their job properly, the muscles get recruited to pick up the slack. The muscles have to constantly work to even out the wonky joints. This means muscle pain and fatigue, as the skeleton just isn’t doing its part. This leads to chronic fatigue, tiredness, and brain fog, yay.

I dislocate and sublux joints all the time, which leads to more pain. My skeleton is pretty unstable, especially in the spine and neck.

The hypermobility in my jaw leads to more issues with head and face pain, and yet more neck pain. I had braces as a teenager, which did solve the bite issue, but probably made the rest of the stuff worse. The fragile skin of EDS actually explains why I had so much trouble with the braces… Unfortunately, your jaw affects your hip and your spine. It’s really weird, but you can actually get hip pain or back pain from a wonky jaw. And due to my disease, my pelvis and spine are fucked up already, so it’s just all aggravating each other. What the fuck, body? I’m seeing a specialist dentist in May, though they just rescheduled the appointment, who will hopefully be able to solve some of the jaw issues with a weird splint thing called a deprogrammer. I’m still a little lost on how they work, but I’m sure he’ll be able to explain all that.

Other symptoms I share with the EDS community are easy bruising—often without a reason—fragile skin, bad wound healing, and weird scarring. I found a graphic on Instagram the other day which showed a mind map of all the connected issues of EDS. If you need a mind map to explain symptoms, things are fucked up. But, to be honest, finally connecting all the dots means more to me than I can explain.

As connective tissue is everywhere in the body, there are a bunch of comorbidities, so illnesses that frequently go along with EDS. There are many, so I’ll just list the ones, I am dealing with.

POTS: Postural tachycardia syndrome is one of my worst comorbidities.Okay, so your blood vessels contain connective tissues. Surprise! They squeeze to move the blood through your body. My body is shitty at this, so my heart has to pick up the slack. If I lie down, my heart rate is very low. Once I get up, it spikes significantly, and stays there. I get dizzy, a lot, too. You know that feeling when you get up too quickly? Yeah, it’s like that, just extreme and all the time. If I lie down again, it goes back to normal rapidly. POTS adds more fatigue, dizziness, nausea, etc.

Funnily enough, POTS also connects to my anxiety. I mean, I have cPTSD from childhood trauma and being dismissed by the medical community for most of my life, but the fact that my heart starts racing is another factor. I’m constantly very close to a “DANGER!” response, so a little push can really set me off. It’s great, really. I’m already way jumpy thanks to my autism and cPTSD, so this is just a fun combination.

Dysautonomia: Your body is supposed to regulate your own body temperature, breathing, the speed of digestion, things like that. My body sucks at this. I’m either cold or sweating. Or both. Many people with POTS overheat easily, but I’m more on the other end of the spectrum. I love sunshine and just can’t get comfortable in winter. Blankets or sweaters make me go super sweaty, so it’s really hard to just layer up in winter. Sweater on, warm. Sweater off, cold. Blanket on, sweating. Blanket off, cold. Blanket on, but feet sticking out, sometimes, sometimes not. Summer girl, all the way.

Gastroparesis: Your stomach contains connective tissue. Surprise? It squeezes to move things along. My stomach can’t do this properly, so the sphincter doesn’t get opened when it should. I often can’t finish kid’s portions, but then am hungry right after eating. Going to a restaurant with me is so much fun. Add in me not being able to eat gluten or dairy, and being a vegan, and it’s just a fun time all around. This gastroparesis fun has also got some side effects like worse nutrient uptake, so in addition to just needing more calories than I can eat, I also have to supplement minerals and vitamins. A rainbow of pills for me, none of them covered by insurance, of course.

MCAS: Mast cell activation syndrome means that your body randomly reacts allergic to things. The reaction can be itchy skin, rashes, nausea, vomiting, sometimes a stuffy nose or scratchy throat. Or sneezing all morning for no reason… What was fine yesterday, might cause an allergic reaction today. Yay!

Neurodivergence: Autism and ADHD are both way more prevalent in people with EDS, and I have been diagnosed with both. Some people say there is no connection, but spend a day in an EDS subreddit or on a discord server, and you’ll believe me. And studies are suggesting a connection. Either way, I’m autistic as fuck, and have ADHD.

My constant ear issues, including the temporary hearing loss in 2018, my crooked nose, and so on, all connected to this. It’s all connective tissue.

I guess, there’s a reason for the fun saying that’s been stuck in my head for weeks. Seriously, every time someone says tissue, issue, or anything remotely like it, my brain goes, “If you can’t connect the issue, think connective tissue.”

So, what’s happening next? Is there a cure?

EDS doesn’t have a cure. No curing genetics, I’m afraid, but it is manageable. We’ve also finally found the answer why I was so much better in California. It wasn’t just the sunlight—though that’s definitely helped—but also the fact that I was very active there. My muscles were easily able to pick up a lot of the slack, and I mainly dealt with pain and stomach issues, instead of this full roundhouse kick of symptoms.

Drinking a lot and a high-sodium diet are part of getting my POTS under control, which really will help a lot with dizziness, fatigue, and nausea. I’ve been drinking about 3 liters, that’s 3/4 of a gallon, every single day. That’s actually hydration and not liquid intake, so coffee only counts 60%, and something like alcohol would even put me in hydration debt. Haven’t had a drink in weeks, though.

This extreme hydration adds more blood volume, making it easier for my shitty vessels and my over-worked heart to deal with life. It’s already started helping, though I pee sooo much! I know, I need to up my sodium intake more to hold on to more of the hydration, but one step at a time. I’m getting there.

I’ll even get to carry around emergency salt for dizzy spells, though simply getting to the ground has been working well so far. A packet of salt might be less confusing to other people, though. We’ll see.

I might also get put on some more medication, but that’s all still up in the air, as I have to see quite a few specialists now. Remember that rheumatologist I was referred to at the beginning of all this? There are no appointments. Waiting lists of many months or just a complete intake stop are pretty common. I’ve kinda given up on seeing one while we live where we live now. I guess it’s a good thing we’re moving in a few months.

But the main thing will be to undo all the damage the doctors have done when they told me to eat a low-sodium diet, to slow down on the exercise, the forced rest after unnecessary operations, and just being told that it’s all in my head. Medical PTSD is a thing, and after going through all this, I can say it’s actually no wonder so many people are traumatized by doctors.

I’ve put myself on a slow strength training regime. I can’t overdo it, or I’ll knock myself out for weeks and start over. Patience is my best friend, but I really am not the best at patience. I’ll have to train my muscles slowly without fucking up my joints. After a few weeks of this, I am progressing to more fun workouts. I even get to do some kind of yoga again. Anyone ever tell you that downward dog is a resting pose? I never really agreed, but it definitely isn’t restful if you don’t get to rest into your skeleton at any point during the workout. It’s like a weird plank for me. But I’d rather look like I am very bad at yoga and enjoy the process than fuck anything up more than it already is.

I’m also taking some less common steps like switching from back-mount diving to sidemount diving, as that will allow me to carry my equipment in much smaller pieces to the side of the water. No more turtle-shell walking while carrying more than my body weight on my back. I’m excited to get in the water again. After all, water sports are great for training muscles without straining your joints too much. But, as there’s no way you’ll get me into a chlorinated pool, diving really is the best way to go. And the ocean, the ocean is always a good choice. Cod, I want to move closer to the ocean, right now, please. Soon, Kate, soon.

I’m also close to finishing the stressful part of my studies. After this semester, there’s only the bachelor thesis, including two surrounding projects, left. I’m almost done. I’ll get to focus on my filmography, photography, podcast, and writing. I’m excited as fuck!

So, long story short: I have cEDS and there is no cure, but there is a lot I can do now that I have my answers. I’ll get better. I will forever be chronically ill, and there are some things I shouldn’t do, like bungee jumping, but I’m totally fucking fine with that if it means getting out of my current state. I’ll trade bungee jumping for a physically and mentally able life any day.

Wow, that was a lot of words to explain an illness. Thanks for bearing with me. I have an answer, people. An answer! Learning about EDS was like learning about autism all over, physical edition. What autism meant for learning about my mind, EDS means for learning about my body. I’m no longer in the dark. Doctors can no longer gaslight me into a depression. I’m chronically ill. I’m a spoonie, but I can manage this. Knowledge is fucking power, people.

Okay, enough talking. Next week, we’ll probably return to our Climbing the Tree of Life series with an excited episode on cuttles. Cuttles are a magic mindfuck, so I can’t wait.

As a spoonie, I cherished this show more than you know. Being able to work from my own desk, educating people on biodiversity, sustainability, and the issues with society is my passion. You keep me going. But it also means that I need your support. If you want to support me and make it possible for me to keep telling the world about all these things, consider becoming a patron or buying me a coffee. If you can’t afford to help me out—please, your own finances come first!—you can help me out by liking, subscribing, sharing my episodes, or rating my podcast wherever you listen to podcasts. I appreciate every single one of you awesome people. A special thank you, as always, to my loyal patrons, Robert and Paul, who had been pledging money every month, and to the lovely people out there who sent one-time donations. Thank you!

Weirdly yours,

Kate Hildenbrand.

Kate Hildenbrand

Kate Hildenbrand

Kate Hildenbrand is the writer behind the essays here, author of fiction novels, the creator of the Kate Hildenbrand podcast, and a student of marine ecology. At least, that's her on the surface.