If a New Blood Test Can Detect EDS, Will Doctors Even Use It?

By Crystal Lindell

New research points to a potential blood test for hypermobile Ehlers Danlos syndrome (hEDS). But even if the test becomes a reality, I’m skeptical that doctors will use it wisely.  

The study, recently published in the American Journal of Medical Genetics, was funded by the Ehlers-Danos Society. It identifies potential blood-based biomarkers that could help diagnose hEDS, as well as hypermobility spectrum disorders (HSD). 

Researchers examined blood samples from 466 adults, including 94 diagnosed with hEDS and 80 with HSD, and found a protein (fibronectin) with a unique pattern in every participant with hypermobility. 

“The study revealed the presence of a specific 52 kDa fragment of fibronectin in the blood of every individual with hEDS and HSD. This fragment was notably absent in healthy controls, individuals with other types of EDS, and those with various kinds of arthritis,” the Ehlers Danlos Society explained. 

“The consistent presence of the 52 kDa fibronectin fragment in individuals with hEDS and HSD suggests a possible common underlying pathophysiology.”

So basically they found a biomarker that seems to only show up in people with hypermobility, and they are hoping to use this biomarker to create a blood test. The identification of these fragments could lead to the development of the first blood test for hEDS and HSD, providing a more reliable diagnostic tool for healthcare providers.

In theory, this is good news. A blood test would help more people get an hEDS diagnosis, since it’s seemingly more straight-forward than the physical evaluation and family history used to diagnose hEDS now. It currently takes an average of 12 years before someone gets an EDS diagnosis.

However, I’m skeptical about how a blood test would be used in practice. 

Something I always think about is how visually obvious it is that my joints hyperextend. Any doctor who met me should have been on the alert for hEDS within five minutes. And yet, it still took years for me to get evaluated for EDS, and even then it only happened because I pushed for it. 

Shortly after I was diagnosed, I mentioned it to a nurse who I’d been seeing regularly for months for lidocaine treatments and she said, “Oh yes, your elbows do overextend. I see that.” 

Okay, well if you can see it that easily, why hadn’t you ever bothered to look for it? Why did I have to spend months researching EDS myself, and then bring it up to doctors who had never even mentioned it as a possibility?

If doctors and nurses ignore obvious visual markers now, I don’t have much faith that they’ll be proactive in ordering something more arduous like a blood test.  

Not to mention that once there’s a blood test for something, it’s often treated by doctors as both infallible and the end point of evaluation. This happens regardless of how reliable the blood test even claims to be. 

I still remember sitting in an emergency room in my 20’s in extreme pain while the doctor looked me in the eye and said, “It’s definitely not your gallbladder. The blood work for that came back normal.” 

Yeah, but it turned out it was my gallbladder. I was having a gallbladder attack caused by gallstones, which showed up on an ultrasound that I finally got a couple months later. 

But that particular blood test isn't very accurate when it comes to diagnosing gallbladder attacks, as an article from Merck Manual explains: "Laboratory tests usually are not helpful; typically, results are normal unless complications develop."

Whether or not that ER doctor knew that the gallstone blood test was unreliable doesn’t really matter at the end of the day, because he presented the information to me as though the blood test was a perfect indicator – and I believed him. 

The result was that I spent months after that enduring additional gallstone attacks, while waiting for another doctor to override him and order the ultrasound.  

Another time, a medication I was taking was causing excessive bruising on my legs, to the point that there was more black and purple than skin tone. My then-doctor ran blood work and said that “everything was normal.” 

So again, the blood test resulted in a faulty conclusion, because something was definitely abnormal. 

A few years later, when I was finally diagnosed with hEDS, I realized that one of the symptoms is heightened bruising, and thus the medication I had taken had sent that into overdrive. EDS bruising does not always show up in blood tests because it’s not caused by the same factors that cause bruising in other patients. 

If my then-doctor had taken the time to look at the visually obvious bruising on my legs and decided to override the “normal blood work” results, maybe I would have been diagnosed with EDS sooner. 

Make no mistake, I’m glad that there is ongoing research into a blood test for hEDS, and I hope we eventually get one and that it will lead to more people finally being diagnosed. 

It’s just that I don’t have as much faith in doctors as many of them seem to have in blood tests. So I remain skeptical about how it would actually be used in practice.

How Realistic Is a Possible Treatment for Hypermobile EDS?

By Crystal Lindell, PNN Columnist

Ever since I was diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS) back in 2018, I’ve spent countless hours contemplating what my life would be like if there was an effective treatment.

Last week, Tulane University School of Medicine pushed that question to the forefront. They announced that they may have found a potential cause of hEDS and hypermobility in general. They also theorized a potential treatment.

Ehlers-Danlos Syndrome (EDS) creates fragile connective tissue, which can cause a range of other symptoms including joint pain, digestive trouble, migraines and more.  

Tulane researchers proposed that a variation of the MTHFR gene that causes a deficiency of folate – the natural form of vitamin B9 – could hold the key to hypermobility and a range of connective tissue disorders such as EDS. As for treatment, they hypothesized that methylated folate — which is folate that is already processed — could be a possible treatment for the myofascial pain that’s common for hypermobile patients. They published these preliminary findings in the journal Heliyon.

First, it should be noted that none of this was based on a clinical study of patients. Rather, it’s a proposal that they believe should be researched further. As such, there’s been some valid criticism of Tulane’s announcement from the EDS community. Was it premature? Will any of this hold up in a peer-reviewed study? Or are they just giving false hope to the thousands of EDS patients desperate for some good news?

As an EDS patient myself, I understand those concerns and I very much sympathize with them. Many of us have spent too much time being dismissed by doctors, and too much money on treatments that don’t end up working.

Unfortunately, I think we’re going to have to live in the uncertainty right now. We won’t know if this is a viable option until we get a peer-reviewed study. But I am glad that they are looking into this and sharing these types of updates as the research progresses. I’d rather be informed along the way than only be told at the end of the process.

What Would a Treatment Mean for Patients?

What if their theory is correct though? Is that a good thing? I have to confess, my feelings about it are complicated.

The thing about EDS is that it’s different for everyone. As it stands, most doctors treat the symptoms, which, as mentioned above, vary widely. For me, the most debilitating one is intercostal neuralgia — which is not a type of myofascial pain. As such, it seems unlikely that methylated folate would do much to treat it.

But hey, maybe methylated folate is more of a preventative treatment? That alone would be an incredible advancement for hEDS patients.

The question is, would this treatment impact anything else? Do they know if it would only address myofascial pain? Or could it also help with other symptoms? And would that even be a good thing if it did?

EDS touches every aspect of my body and even most aspects of my personality. There’s the velvety skin everyone comments on when they shake my hand. And the constant comments about how I look for my age, which also seems to be related to how EDS impacts my skin. Would methylated folate treatment change that at all? How so? And what would I end up looking like?

The most well-known EDS symptom is probably loose joints, which means they easily overextend. For me, that’s meant a lifetime of sprained ankles and joint pain. But again, what happens if methylated folate changes that? My joints may be loose, but they’re the only ones I’ve ever known. Would stiffening them up actually help me at this point? Or would I have to re-learn how to move my own body?

What about my mind? EDS patients have higher than average rates of neurodivergence like autism and ADHD. They also have higher rates of mental health issues like depression and anxiety. Could this treatment change our brains too? Or, if not, what if they eventually find a treatment that does? Would it alter aspects of people’s personalities?

There’s also the more logistical issue of EDS as a name at all. According to the National Library of Medicine, a syndrome refers to a group of symptoms and physical findings without a direct cause. Once a cause is found, the symptoms are typically renamed as a “disease.” So, if the researchers at Tulane did find a cause, what do we have? Ehlers-Danlos disease? EDD?

One thing we do know is that EDS and hypermobility cause immeasurable pain and suffering for a lot of people, so we do need more research into potential treatments. Time will tell if folate treatment proves effective or not, but either way, I hope that there are a lot more potential treatments coming.

Crystal Lindell is a freelance writer who lives in Illinois. After five years of unexplained rib pain, Crystal was finally diagnosed with hypermobile Ehlers-Danlos syndrome. She and her fiancé have 3 cats: Princess Dee, Basil, and Goose. She enjoys the Marvel Cinematic Universe, Taylor Swift Easter eggs, and playing the daily word game Semantle. 

Why Getting a Diagnosis Matters

By Crystal Lindell, PNN Columnist

For me, finding out I had a genetic condition with no cure was, strangely, liberating. 

When I walked out of the doctor’s office, I went to lunch at Chipotle with my mom to celebrate. We splurged for the guac. 

No, I wasn’t ever going to get better — but at least I wasn’t crazy. 

It took about five years of debilitating chronic pain in my ribs, two trips to the Mayo Clinic, appointments at three different university hospitals, and countless specialists before I was finally diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS) in March 2018. 

And you know how it happened? It wasn’t some magical doctor who finally figured it out all out. No. It was my readers. A few of them emailed me suggesting I check into it, so I asked my doctor about it. He referred me to a pain specialist who diagnosed me within a month. 

I’m not going to pretend that finding out I had hEDS was all just a pile of happy pills though. I went through an extremely rough month of depression and grief as I worked to grapple with everything that came with that life-long diagnosis. There’s no cure. My body will probably just get worse over the years. And having children would be extremely risky. 

It was a loss, for sure, but it also was a gain in so many ways to finally know what I was fighting — and for others to know as well. It felt like it went from, “She’s making it all up and probably just wants pain meds,” to “She’s here legitimately,” in my medical chart. That alone was life changing. 

And based on the Facebook and Reddit patient groups I follow, I’m not alone in any of this. Hundreds, if not thousands, of people seem to post about their search for a diagnosis, and the validation they feel once they’ve gotten it. 

Knowing your enemy’s name makes it much easier to do battle. 

And yet, doctors seem to be so far behind on this. 

Here are some common myths I’ve heard both from my own doctors, and via patient stories. 

Myth: A diagnosis won’t change how the symptoms are treated. 

Fact: This simply isn’t true. For me, hEDS means I can react differently to medications and treatments. For example, I should avoid chiropractors and only see specially trained physical therapists, because if I don't, I could be seriously injured. Not to mention the fact that it also means I have additional risks that can be regularly tested for, such as issues with my heart. And the risks related to surgery also change. Be skeptical anytime someone tries to tell you that more information is a bad thing.  

Myth: A diagnosis will increase insurance rates. 

Fact: The U.S. requires insurance companies to cover pre-existing conditions now, so this simply isn’t true. 

Myth: Seeking a diagnosis means you just want to spend your days blaming everything on your condition. 

Fact: Trust me, nobody “wants” to blame everything on a genetic condition. But if a genetic condition is to blame, then it’s not crazy to connect the dots. A diagnosis also helps you see dots you didn’t even know where there.

Myth: A diagnosis doesn’t change anything.

Fact:  A diagnosis does so much more than get noted in your medical history. It also can help you apply for programs like Social Security Disability and medical marijuana cards. And maybe even more importantly, it can help you explain yourself to friends, colleagues and family.

When you show up late for a meeting because “your ribs hurt,” people give you the side-eye and then leap into a diatribe about how their back hurts sometimes and they still manage to get there on time. But if you show up late and explain that you have a rare disease called EDS, they usually rush to offer sympathy and understanding. 

So what do doctors mean when they try to tell you that a diagnosis doesn’t matter? They mean, it doesn’t matter to them. It’s similar to when they say a surgery is going to be easy, they mean it’s going to be easy for them.

But we aren’t living for them. We’re living for us. So keep fighting the good fight. Keep insisting that you get the right diagnosis. And know thy enemy.

Crystal Lindell is a journalist who lives in Illinois. She eats too much Taco Bell, drinks too much espresso, and spends too much time looking for the perfect pink lipstick. She has hypermobile Ehlers-Danlos syndrome. 

The information in this column should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represent the author’s opinions alone. It does not inherently express or reflect the views, opinions and/or positions of Pain News Network.

How I Started Telling People I Have EDS

By Crystal Lindell, Columnist

One of the first people I told about my new Hypermobile Ehlers-Danlos syndrome (hEDS) diagnosis was a local politician.

I was still trying to get a feel for how the letters EDS tasted on my lips. How they felt in my breath. How people would react when I said them. And truth be told, this was when doctors were telling me I probably had it, but before I was officially diagnosed — that came later.

He didn’t know he was among the first people I told — that he was a test case. But there we were, at a local Democrats meeting and he asked me about medical marijuana, and I decided to go for it. 

“I actually have EDS,” I said. “My thumb touches my wrist, want to see? Yes, marijuana should be legalized. No, it won’t help everyone.”

He had the response most people seem to have.

“Maybe it will get better?”

“It won’t get better,” I told him.

“Yeah, but maybe it will! Once, I was sick and then I got better. So maybe you will get better.”

“It won’t.”

I get it. Nobody wants to really understand that being born in the wrong family is enough to sentence you to a lifetime of weak ankles and debilitating pain. It’s hard to understand that. It’s hard to accept that. It’s a lot easier to believe someone might get better.

It’s been hard for me to accept that. And harder still to say it out loud.

I have found though that it feels easier to lay the news on random acquaintances. The Tinder guy I met once. The woman who expertly bleaches my hair at the over-priced salon. The clerk at Walgreen's ringing up my pain medications.

There’s something to be said for telling random strangers something so overwhelming. It greatly reduces the consequences of your words — and of their reaction.

My initial instinct was to tell the people closest to me, my inner circle, first. But that quickly become completely overwhelming. Those people care way too much about me. They take it way too hard. It cuts too deep.

No, strangers are much better. They are morbidly impressed with my thumb to wrist trick. They are able to distance themselves from the depressing, long-term aspects of the diagnosis and ask horrifically, wonderful mundane questions like, “What does EDS stand for?”

And they never stop to think about what it might mean for my future. That’s my favorite part. Because the future looks very scary right now. And I need to do my best to stay in the present.

I have forced myself to pepper in the tougher conversations with the people who care about me. The late-nights over tears with my best friend wondering what this might mean for my future. Asking things like, what if I can never kids? And even if I can, do I want to risk passing it on to them?

Will I need assisted care sooner than most? How will I ever explain my health to future lovers? Why did it take so excessively long to get the diagnosis? How much of my life was wasted waiting for it? What could have been different if only I had known sooner? Will my siblings need to be evaluated? And what happens if they have it too?

All the things that fill me with grief and despair if I let them.

But strangers never ask questions like that. And even if they do, they don’t actually care about the answers that much. And I love that about them.

Eventually, hopefully, it will just become one more things about me. I’m blonde, I don’t like Trump, I love Burn Notice, I eat too much Taco Bell, and I have hEDS. It’s part of who I am, but not the whole part, or even the most important part. Just another casual fact in my Instagram bio next to things like, “I like lipstick.”

And no, I won’t actually ever getter better, but eventually, hopefully, I’ll get better at having hEDS and telling people about it.

Crystal Lindell is a journalist who lives in Illinois. She eats too much Taco Bell, drinks too much espresso, and spends too much time looking for the perfect pink lipstick. She has hypermobile EDS. 

Crystal writes about it on her blog, “The Only Certainty is Bad Grammar.”

The information in this column should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represent the author’s opinions alone. It does not inherently express or reflect the views, opinions and/or positions of Pain News Network.

Finding Out I Have EDS

By Crystal Lindell, Columnist

It turns out pain has been running through my veins all along. It has been a part of my bones since the day I was born. I just didn’t know it.

I have recently been diagnosed with something called hypermobile EDS, which is a subtype of Ehlers-Danlos syndrome. Basically, my connective tissue is weaker than it should be.

It explains why I spent the last five years feeling like the bones in my rib cage were cracked. It explains why my legs and arms are often painted blue and purple and shades of Army green with bruises from injuries I have no memory of. And it explains why my ankles gave way so often over the years that I ended up with an entire dresser drawer full of beige ankle wraps.

It also explains why everyone who ever loved me would describe me as clumsy. And why I got tendonitis at such a relatively young age. It explains my vision changes and my “bad veins” and my soft skin.  

Readers have privately messaged me many times to get checked for EDS, but I thought it was too rare. I thought my doctors would think I was stupid or crazy for asking about it. And I didn’t think it ran in my family.

I was devastatingly wrong about all those of things.

And at every crossroad over the last few weeks, at every opportunity to find out that maybe I was overreacting, my worst fears were confirmed.

First by the osteopath, who asked if I could touch my thumb to my wrist, and when I showed her I could, said plainly, “Oh yeah, you could definitely have EDS.”

Then by my cousin, who herself has suffered from unexplained pain and health issues for years. When I asked if her doctors had ever thought she might have EDS, she replied, simply, "Yes, they have."

Next came my mom, who I tried to avoid involving in all this for as long as possible, because I knew it would be harder on her than it was on me to find out I might have EDS. As she sat on the couch across from me, she scrolled through the list of signs and symptoms on her phone and then abruptly stopped.

“I think my dad had this,” she said.

A revelation. An epiphany of the worst kind.

Her dad. The man who died when I was 3. The man everyone always said spent his life dealing with unexplained pain. The man I was haphazardly compared to whenever I popped pills. The man who I had no memory of. It was him. He was the link. 

And then the dots just started connecting themselves. Like when you watch an eight-part Netflix show and it takes the characters until the very last episode to realize that the killer was in the house all along and you’re screaming at the TV to try to tell them, but they just don’t see it.

Then, finally, they see it. 

It turns out his mom likely had EDS too. My mom’s grandma, and my great-grandma, Hazel. The family lore is that she was diagnosed with rheumatoid arthritis at 26 and spent most of her life miserable and in horrible pain. I have now discovered that her RA was probably, at the very least, an incomplete diagnosis.

When I talked to her son, my great-uncle, I expected him to prove me wrong. To say something that countered my suspicions. But he did exactly the opposite. The last year of her life the doctors had told him that her body was like a bunch of bricks and the cement holding them together was deteriorating. EDS explained with a construction metaphor.

Even more heartbreaking was that he said all they ever gave her for her pain was aspirin. That’s it. Aspirin. And it did not help.

I had been hoping -- since it was so long ago --- that they were more generous with the pain medications at the time. That they had gladly given her all the morphine she wanted. But, as with so many things lately, the opposite of what I believed was actually true.

I told my pain specialist at the university hospital in Wisconsin about all this. And until the very end I hoped he would prove me wrong. That he would accuse me of being hysterical. But instead, he said simply, “Ehlers-Danlos Syndrome is a possibility, based on your reports and my prior examination. Best bet would be for you to come in for a visit.”

And that’s when I knew. That was all I needed to finally understand that the killer was in the house the whole time.

“Ehlers-Danlos Syndrome is a possibility.”

“Ehlers-Danlos Syndrome is a possibility.”

“Ehlers-Danlos Syndrome is a possibility.”

It played over and over and over in my head. I let myself think for a second. There it is. Ehlers-Danlos Syndrome is a possibility.

I scheduled a visit for March 15. And this week, after spending about 45 minutes bending me like a Gumby doll, he confirmed it. I have hypermobile EDS – or hEDS for short.

I am fairly certain that all of those wonderful, strong people out there who live with EDS will know how devastated I am by all this. And how sad it makes me. I cannot talk myself out of the grief I have been feeling. Because now, not only will I likely never get better, the odds are high that I will get worse. There is no cure, only treatments that manage the symptoms. And physical therapy to prevent others.

All I can think about is the doctor at Loyola from the very beginning. The one I first saw with shooting pain in my wrists five years ago. The one I went back to a few months later hoping to find answers for the new pain in my ribs.

The one who looked right at me and said, “Please stop coming in. There is nothing I can do to help you.”

The one who could have found this so easily, if only he had taken the time to look for it. The one who pushed me into piles of medical bills and doctor visits and nights with unexplained pain because he thought I was making it all up. Or at the very least, overreacting.

I want to go back to his office and show him what I learned. I want to yell in his face, “IT’S EDS! I WASN’T BEING CRAZY! I WAS IN PAIN!! I NEEDED YOUR HELP!!!”

And then I want to cry. Again. Because crying seems like the only appropriate response to all of this right now.

Crystal Lindell is a journalist who lives in Illinois. She eats too much Taco Bell, drinks too much espresso, and spends too much time looking for the perfect pink lipstick. She has hypermobile EDS. 

Crystal writes about it on her blog, “The Only Certainty is Bad Grammar.”

The information in this column should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represent the author’s opinions alone. It does not inherently express or reflect the views, opinions and/or positions of Pain News Network.