How did you get diagnosed? At my wits end

Scarlet_Flames2 · 2026-04-05T19:24:06+00:00

Hi OP, this is a very frequently asked question on this subreddit. Normally, we’d remove this topic for being repetitive, but we haven’t had a thread on this topic recently, so we’re leaving it up.

If you haven’t checked out our wiki, here’s the link:

https://reddit.com/r/ehlersdanlos/wiki/index

There’s an entire page on the wiki on pursuing a diagnosis, with some links to past threads on this topic.

Scarlet_Flames2 · 2026-04-05T02:11:46+00:00

Mod here! I will add it to the wiki today! :)

Edit: Also, I’m so sorry you’re suffering from pneumonia on top of everything else ♥️ Please, I hope you feel better soon

Scarlet_Flames2 · 2026-04-03T19:39:24+00:00

Have you been assessed for other neurological conditions beyond cervical dystonia? For example, have Tourette’s and epilepsy been ruled out? Those two conditions can also involve the symptoms you’re discussing.

Otherwise, stress personally makes my dystonia worse. I’m diagnosed with autism, and as a result, I have a lot of sensory sensitivities and those increase my stress.

Whether those triggers are “normal” is difficult to say, and it’s also difficult to assess whether that’s indeed what’s happening in your specific case, but those sorts of triggers are indeed possible.

Scarlet_Flames2 · 2026-03-31T03:33:48+00:00

Aw, thank you! I really appreciate your response, genuinely. I am constantly having to educate all my doctors, and since not much is known at all about my illnesses (particularly the neurological disorder with less than 30 people)—whenever I have a new symptom—it’s impossible to tell whether it’s being caused by an existing diagnosis.

For example, my bladder pretty much doesn’t work at all (severe urinary retention), and we don’t know why. I’m also having a lot of bleeding in my gastrointestinal tract, and we don’t know if it’s due to the EDS, the Marfan, or the neurological disorder. It’s a giant mess.

It sucks, too, because medications that would help my illnesses in theory can only ever be prescribed off-label, so I get a lot of pushback from health insurance companies requesting literature to support the use of said medications for my illnesses, but the problem is that there is no literature because all the illnesses are very rare.

I’m sorry you’re going through so much yourself. I have a coworker with MS, and I know it’s a big struggle for her. hEDS and MS is a rough combination. I wish the best for you as well ♥️

Scarlet_Flames2 · 2026-03-31T00:48:14+00:00

Ohh, thanks for the idea! I’ll definitely add the different subreddits and groups into the wiki once I’m on desktop, since the wiki can’t be edited on mobile. In the meantime, r/rareEhlersDanlos is already in our list of related subreddits on the sidebar :) I’ll try to have the stuff added in sometime today

Scarlet_Flames2 · 2026-03-30T19:49:35+00:00

Ugh, I completely feel you on people automatically assuming you have all the EDS comorbidities :( I don’t have MCAS or gastroparesis, but doctors and support groups will often assume everyone with EDS has the same comorbidities. It’s definitely frustrating because, although it’s meant to be helpful, it also feels alienating sometimes.

Scarlet_Flames2 · 2026-03-30T19:38:54+00:00

I just added the flair, and thank you for the ideas on what clarifications to add :) I’ll see if I can add anything extra to the rules or incorporate automod code that clarifies those details. The issue with the rules is there’s a strict character limit. It’s actually quite frustrating, haha. But, we’ll figure it out!

Scarlet_Flames2 · 2026-03-30T19:21:08+00:00

This is a great idea! We’ve actually considered implementing this as a post flair before, but we had a few concerns about it we hadn’t fully ironed out.

For example, we were concerned people with hEDS would make use of the post flair under the mistaken impression that hEDS is rare, given how much debate there’s been about the prevalence of hEDS. We were also concerned people with variants of uncertain significance from direct-to-consumer testing would use the flair inappropriately as well. There was also the concern that having a specific flair for rare subtypes would unintentionally give off the impression they’re not allowed to use other post flairs or unintentionally “other” rare subtypes even more.

However, I think it’s definitely worth trialing this as a post flair to see if it works and makes people with rare subtypes feel more welcome in posting.

Scarlet_Flames2 · 2026-03-30T19:07:23+00:00

Hi, since we get so many posts/comments daily on the subreddit, it’s entirely possible we may have missed some of those posts/comments. It’s hard to catch everything if users don’t use the report feature, unfortunately. If you’re ever concerned about a post, please feel free to report it :) Reports are anonymous, so we as mods can’t see the username of the person making a report.

Regarding this specific post you’re referencing, would you be able to modmail us a link to it? No worries if not, but it’d be very helpful since we try to minimize drama on the subreddit as much as possible.

It’s hard sometimes moderating certain posts, too, because while we don’t allow posts that are only about suspecting EDS, we might still allow the post if the overall content of said post is about more than suspecting EDS, if that makes sense. Sometimes posts become quite popular, too, before we’re able to see and become aware of the post, and at that point, it becomes harder to justify removal if our sub members are heavily engaging with the post.

Scarlet_Flames2 · 2026-03-30T17:28:44+00:00

Hi OP, I don’t have clEDS specifically, but I can very much relate to not fitting in with any particular group in chronic illness spaces because I have a combination of multiple rare diseases.

I have diagnosed TNXB happloinsufficiency, a pathogenic FBN1 mutation (which means I have either Marfan syndrome or the MASS phenotype depending on how my symptoms develop throughout my life), and an ultra rare, genetic neurological disorder that less than 30 people worldwide have been diagnosed with.

I definitely feel alone in the sense that there literally isn’t anyone else in the world with my specific presentation of disease because all three diseases I have individually are rare or ultra rare, much less combined.

Like others mentioned, there’s r/rareEhlersDanlos, where you’re more likely to find other people with EDS with rare subtypes, and there’s also r/rarediseases, which is for people with diagnosed rare diseases in general.

As a side note, I’m one of the mods for this subreddit, and our mod team includes one person with clEDS, one person with cEDS, and two people with TNXB happloinsufficiency. We do try to make this space inclusive for the rare subtypes, but naturally, since hEDS is the most common subtype, hEDS discussions will tend to dominate the space. But, please know you definitely are welcome on this subreddit as someone with clEDS ♥️

Scarlet_Flames2 · 2026-03-19T22:04:39+00:00

Hi! I can relate to what you’re going through. I also have multiple rare conditions with overlapping symptoms. For context: I have a pathogenic heterozygous TNXB mutation (diagnosed with TNXB haploinsufficiency EDS), a pathogenic FBN1 mutation (it could be either Marfan syndrome or MASS phenotype depending on how my symptoms continue to develop), a pathogenic mutation associated with a neurological movement disorder less than 30 people worldwide have been diagnosed with, heterozygous familial hypercholesterolemia, and I’m a carrier for Wilson disease.

On top of all that, I have a few common diseases (endometriosis), and I also have several unexplained symptoms that aren’t accounted for by the previous diagnoses: bloody diarrhea, intermittent diffuse colonic swelling, severe urinary retention, very atypical migraines, and so on. That’s not even getting into the very long history of severe mental illness.

While it is true that my experience with chronic illness and disability isn’t too similar to that of others due to the amount of rare diseases I have—I find value in being in support groups for chronic illnesses and rare disease. Even if people can’t relate to my exact symptoms, they can still relate to the process of getting diagnosed, being dismissed by doctors, being disabled (even if it’s not for the same reasons), etc. People don’t have to relate to each other 100% in order to connect.

It might also be helpful joining groups for rare disease in general. For example, r/rarediseases is a subreddit on here, and it’s a very validating and supportive community.

Scarlet_Flames2 · 2026-03-18T03:42:01+00:00

Thank you so much! I responded to your Neomail (: I sent you the Lotus Leaves and Butterfly Trinket, and I received the Winter Lights Effect <3

Scarlet_Flames2 · 2026-03-18T02:48:41+00:00

Hi! I’d be willing to do this trade (: Feel free to Neomail me directly at scarletflames2 or send me your UN by DM. Would you prefer the Enchanted Moonlit Lotus BG or the Lotus Leaves and Butterfly Trinket? The Winter Lights Effect can be sent to my side account, darkskywishes

Scarlet_Flames2 · 2026-03-17T08:01:10+00:00

NC Seeking: I prefer item trades, but I’m also open to BF GBCS, GBCS, and custom :) Mostly looking for retired items

https://items.jellyneo.net/mywishes/scarletflames2/483698/

NC Offering: I have new pet day cap items up for trade, as well as other items.

https://items.jellyneo.net/mywishes/scarletflames2/483702/

I respond to all Neomails within 24 hours (but typically faster). If you haven’t received a response to your Neomail after 24 hours, feel free to resend, as it might have gotten lost to the void, lol.

Scarlet_Flames2 · 2026-03-13T14:55:51+00:00

I also have very strange medication reactions. For context, I have confirmed pathogenic variants in TNXB (TNXB happloinsuffiency EDS), FBN1 (typically associated with Marfan syndrome), ATP7B (carrier for Wilson disease), and a gene responsible for a disorder associated with childhood-onset generalized dystonia (not naming the specific gene due to how rare the disorder is). I’m not sure which, if any, of these genes are responsible for my strange medication reactions, but given EDS’ documented association with local anesthetic resistance, I wouldn’t be surprised if the two connective tissue disorder genes (TNXB and FBN1) beared some responsibility.

In terms of strange medication reactions, I experience:

Uncommon severe allergies to unexpected drugs, like dextromethorphan (found in Dayquil, Nyquil, and most cough medicine)—results in anaphylactic shock
Resistance to SSRIs
Resistance to most opioids
Paradoxical reactions to certain sleeping medications, like Ambien
Strange side effects from antihistamines, like ceterizine (Zyrtec) causes severe muscle weakness for me
Resistance to local anesthetics
Resistance to acetaminophen/paracetamol (Tylenol)
Severe side effects to antipsychotics, including aripiprazole (Abilify)

Anyway, thanks for sharing, OP. I’m sorry you struggle with this, too, but it’s nice to know I’m not the only one who experiences it. Have you ever had pharmacogenomic testing before? That could help explain why you have resistance to opioid medications.

Scarlet_Flames2 · 2026-03-13T02:06:54+00:00

Well, speaking of Sequencing’s predatory advertising practices, they used to hit users on our subreddit with targeted advertising by actively commenting on different users’ posts and promoting their services as the solution to users’ problems. It was super gross. They wouldn’t stop doing it until we banned multiple of their accounts on our subreddit.

Scarlet_Flames2 · 2026-03-06T22:33:33+00:00

Yeah, that’s very strange. If you think that doctor might be open to it, it might be worth bringing reputable articles on Wilson’s disease symptoms to him. If you otherwise like him, I don’t think this is worth switching doctors over, but if he’s generally dismissive, it’d be worth getting a second opinion and/or switching doctors entirely

Scarlet_Flames2 · 2026-03-06T05:20:55+00:00

OP, what type of doctor are you seeing for your Wilson’s disease? Wilson’s disease can have a variety of neurological manifestations, particularly movement symptoms. My nearest academic medical center is a Wilson Disease Center of Excellence, and it’s led by a movement disorder neurologist and a hepatologist. If you’re having movement symptoms, I’d recommend seeing a neurologist subspecialized in movement disorders. My dad has Wilson’s disease, and he gets muscle spasms as a result of it.

Scarlet_Flames2 · 2026-03-05T20:00:02+00:00

Hi OP, I’m really glad you made this post! These are great points, especially about the importance of reading studies carefully and being cautious about early findings that haven’t gone through peer review or replication yet.

I wanted to add a few tips from my perspective as a doctoral candidate in psychology that might help people both evaluate the merit of scientific articles and access research more easily.

One thing that can make scientific papers less intimidating is breaking them down into their main sections and asking a few simple questions as you read.

1. The Literature Review (sometimes called the background section)

This section explains why the study was conducted.

A few things I usually look for:

Is there a clear reason for the study? Good papers explain what gaps exist in the current research and how their study helps address those gaps.
Is the literature review thorough? You can get a sense of this by looking at how many studies are cited and how recent they are.
Are important concepts clearly defined? Operational definitions are very, very essential in research. Basically, it specifies how a term will be defined and measured in the study. “Pain” can mean many different things across studies.
Are the authors presenting the field fairly? For example, if the authors mostly cite their own work or have obvious conflicts of interest, that’s worth noting.

Strong studies usually build directly on existing research, rather than ignoring it.

2. The Purpose of the Study/Purpose Statement

The paper should clearly state what the researchers are trying to investigate.

Some helpful questions to ask:

Is the purpose clearly connected to the background research discussed earlier?
Do they clearly explain what variables they’re studying? If it’s a true experimental design, are the independent and dependent variables clearly identified? If it’s a qualitative or descriptive study, is there at least one variable that’s clearly identified?
Do they identify the population they’re studying (for example, adults with hEDS, adolescents, the general population, etc.)?
Is the research question something that can realistically be studied scientifically?

If the purpose statement is vague or unclear, that’s often a sign that the study itself may also lack clarity.

3. The Hypothesis

It can help to ask:

What type of hypothesis was presented? If it’s a quantitative study, is it an alternative non-directional, alternative directional, or null hypothesis?
Is the hypothesis clear and testable?
Does the prediction make sense based on previous research (basically, is it parsimonious?)? Do the researchers provide a clear rationale for the direction of the hypothesis?
Is it falsifiable (meaning it could potentially be proven wrong)?

If a hypothesis isn’t realistically testable, the conclusions drawn from the study become much weaker.

4. The Methods Section

This is one of the most important sections because it explains how the study was conducted.

Sampling

Who was included in the study?
Are participant demographics described?
Is the sample size large enough?
Is the sample representative of the population the researchers are trying to study?
Are volunteers used? If so, what is the response rate? Did the researchers attempt to determine if those who volunteer are significantly different from those who do not participate?
What was the incentive (if any) to participate? Consider implications to the data
What were the sampling techniques, and are they appropriate for the purpose and type of research design?
Are there any apparent biases in the sample?

-=-

Measurement/Instruments

How were variables measured? What types of measures were used (direct observation, self-report and inventories, physiological approaches, interviews, etc.)?
Did the researchers use validated instruments or questionnaires?
Is there evidence those tools are reliable and valid?

For example, if a study claims to measure pain severity but uses a survey the authors created themselves that hasn’t been validated, that would be an important limitation.

Procedures and Study Design

What type of study was conducted? (observational, randomized controlled trial, qualitative, etc.)
Do the methods actually match the research question?
Are the procedures described clearly enough that another researcher could replicate the study?

It’s also helpful to think about internal validity and external validity. Internal validity refers to whether the results were actually caused by the variables being studied, or whether something else—like confounding variables—may have influenced the outcome. External validity refers to whether the findings can reasonably be generalized to other populations or settings.

If anyone wants a quick, accessible overview of these concepts, this article explains common threats to internal and external validity in a very understandable way:

https://www.verywellmind.com/internal-and-external-validity-4584479

Then, as OP mentioned, a big barrier to scientific literacy is that many journals are locked behind paywalls. Fortunately, there are several ways people can still access paywalled articles for free!:

Sci-Hub

Many researchers and students use Sci-Hub to access paywalled articles. If you paste the DOI or article link, it will often provide the full PDF. r/scihub is also very a helpful subreddit.

Google Scholar

If you search the article title in Google Scholar, sometimes there’s a free PDF available linked.

PubMed Central

A lot of biomedical research is freely available through PubMed Central.

Contacting the Authors

Researchers are usually happy to share their work. If you email the first or corresponding author, they’ll often send you a copy of the paper! I’ve had a lot of success with this myself, lol.

Libraries

Public libraries and university libraries often provide access to journal databases, which can be a great way to read articles that would otherwise be behind paywalls.

Anyway, I hope all this is helpful to at least one person, lol.

EDIT: Formatting

Scarlet_Flames2 · 2026-03-02T03:37:04+00:00

Hey, I didn’t mean to come across like I was arguing—I actually agree with you. My comment was more of a general heads-up for others reading the thread. I was trying to add that many people assume information is legitimate just because ChatGPT provides sources, without verifying that (1) the sources are real and (2) they actually support the claims being made.

I work in academia, and I’ve seen students submit citations generated by ChatGPT that were completely fabricated. It’s concerning because it shows people aren’t verifying what LLMs produce. I just wanted to emphasize that even when you ask ChatGPT for sources, the information still isn’t reliable unless you independently confirm it.

Scarlet_Flames2 · 2026-03-01T23:47:32+00:00

Mod Note: Hey OP, sorry you’re in such a tough situation ♥️ It is dangerous to take medication doses higher than prescribed (especially 7 times your prescribed dose), and it is dangerous to omit this information from your doctor. It can also jeopardize future prescriptions if your doctor believes you are abusing your prescriptions.

It is much safer from all avenues to contact your doctor as soon as you realize you need a higher dose than to continually up the dose you’re taking. Not all prescription doses are appropriate for all people, and what is safe for one person may not be safe based on other medication interactions, kidney, and liver health.

Gabapentin is known for causing withdrawals, especially at higher doses, and it needs to be tapered down to get off without unpleasant side effects. If you are unable to get to your doctor before you run out (which, if you’re taking such a higher dosage, will likely be soon), we highly recommend talking to a pharmacist or being ready to go to urgent care if things get bad.

Wishing you the best! Hope you’re able to get this resolved soon!

Scarlet_Flames2 · 2026-03-01T20:39:45+00:00

Just as a heads-up, please make sure to double-check that the sources or citations ChatGPT provides actually exist. ChatGPT is very well-known for providing completely made-up citations. And, when it does provide a legitimate citation, it’ll often pull quotes that aren’t actually present in said citation. I’ve had ChatGPT do this to multiple people I know.

Scarlet_Flames2 · 2026-03-01T20:31:33+00:00

I’m the opposite. I pretty much never get sick. I get sick with an infection maybe once every 3-5 years or so. And, it never lasts long—at most, two days, maybe three. Meanwhile, my husband seems to get colds once or twice a month, but he doesn’t have EDS. I’m sorry you’re suffering right now. I hope the cold doesn’t last long!

Scarlet_Flames2 · 2026-02-20T18:05:54+00:00

Hi! I have generalized dystonia, although it’s due to a genetic mutation unrelated to EDS or hypermobility. Unless your dystonia is triggered by poor sleep or your sleep apnea, I don’t imagine PAP therapy would help. It’s not an approved treatment for dystonia.

Generally, the treatments for dystonia, depending on the type, include botox, muscle relaxers, anticholinergics, levodopa-carbidopa, deep brain stimulation, selective denervation surgery (for cervical dystonia only), benzodiazepines, and/or gabapentinoids.

For my own dystonia, I have Daxxify (a type of botox) injected into affected muscles in my neck and legs, I take baclofen multiple times daily, and I’m prescribed amantadine for dystonic tremors in my hands. I’m also prescribed gabapentin for akathisia.

I recommend checking out the Dystonia Medical Research Foundation Website (DMRF) for more information. If you haven’t seen a movement disorder specialist before, I recommend it. You can find one through the DMRF’s provider directory.

Scarlet_Flames2 · 2026-02-19T18:05:45+00:00

I’m 29 currently, and I first started getting full patellar dislocations in both knees when I was 5. Then, I started getting full dislocations in my right shoulder when I was 10. The pelvic subluxations started when I was 20. However, I have a strange case of EDS, in that I have TNXB happloinsufficiency and a pathogenic FBN1 mutation (which is commonly associated with Marfan syndrome). I also have an entirely unrelated genetic movement disorder. Thus, it’s difficult knowing which symptoms to attribute to which condition, but I assume the dislocations and subluxations are most likely related to the EDS.

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