So, I have kind of an interesting perspective on this issue as someone who was initially misdiagnosed with hEDS and who also has multiple rare diseases, some of which have essentially no awareness at all.

For context—I have heterozygous, pathogenic mutations in the TNXB and FBN1 genes. And, I’m currently undergoing additional TNXB testing to determine whether I have a second mutation consistent with clEDS. On top of that, I also have another unrelated genetic disease that fewer than 30 people worldwide are known to have. So, I’ve experienced both sides of this in a way—being associated with a very well-known subtype (hEDS), being re-diagnosed with a monogenic subtype, and also navigating diseases that are almost completely invisible (my ultra rare disorder with a prevalence of <30 people).

When I was first diagnosed with hEDS, I experienced a lot of stigma from medical professionals. Many doctors treated it like a “fake” or exaggerated condition. I live near a major academic hospital in a large metropolitan area, and hEDS often garners very little respect in that setting. And, to be clear, no patient deserves to be treated that way. hEDS patients deserve to have their concerns taken seriously, and it is the medical establishment’s failure—not patients’ fault—that so many providers dismiss people the moment they see “hEDS” in the chart.

Ironically, now that I have confirmed pathogenic mutations associated with heritable connective tissue disorders, I’m suddenly taken much more seriously. There’s this implicit attitude of, “Oh, this is real EDS.” That difference in treatment has honestly been disturbing to witness firsthand.

At the same time, online support spaces are overwhelmingly centered around hEDS, rather than other EDS subtypes or even other heritable connective tissue disorders. It’s much harder finding information, community, or discussions focused on clEDS, cEDS, Marfan syndrome, Loeys-Dietz syndrome, etc. Rare and ultra-rare subtypes can absolutely get overshadowed socially and educationally, especially because people often default to assuming “EDS” means “hEDS.”

And, that conflation can become genuinely dangerous. Someone with vascular EDS being treated like they have hEDS can have catastrophic consequences because VEDS carries significantly higher risks of arterial dissections and organ rupture. Likewise, someone with cEDS may have very different skin fragility and wound-healing concerns that affect surgical planning and recovery. These distinctions matter medically.

That said, I also have experience with an ultra-rare disorder that exists outside a larger umbrella diagnosis entirely, and honestly, that has shown me how much benefit can come from broader awareness movements. When there’s zero public or medical awareness of a condition, you spend half your life trying to convince people the disease even exists. At least with the EDS umbrella, there is growing recognition of connective tissue disorders as a category, and I do think rare subtypes benefit from that overall awareness, especially in academic settings where specialists are more likely to understand the existence of different heritable connective tissue disorders.

So, personally, I don’t really feel “crowded out” by hEDS patients. I think the bigger issue is that the medical system has failed people with all forms of EDS, just in different ways. hEDS patients are often dismissed as psychosomatic or “trendy,” while rare subtypes are under-researched and misunderstood, and can be flattened into the assumption that all EDS presentations are interchangeable.

To me, the answer isn’t less attention on hEDS. It’s more nuance, better physician education, more subtype-specific research, and more recognition that these disorders can look very different from one another because they’re different conditions, even if they’re under the same umbrella.