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.