My Hyperflexibility Was The Root Of So Many More Problems

Ellie Hopkins, 35, had always known she was bendy but never thought much of it. “I just thought it was normal. I assumed everyone could do the splits, or bring their foot up to their chest to see what they’re doing when they cut their toenails,” she tells Refinery29. It wasn’t until her 20s that Ellie’s unusual flexibility took on a new level of significance when she started experiencing weird and seemingly disconnected symptoms.

“I’d had muscle and joint pain pretty much my whole life, but then I started experiencing awful light-headedness and chest pain, feeling like I was going to pass out, as well as gastric issues and rashes all over my body,” she says. “I sublux (partially dislocate) joints regularly. Something as simple as holding my arm out straight at shoulder height will cause my shoulder to pop out, so getting dressed can be a risky procedure!”

With no obvious link between her symptoms, it took around four years of ever-evolving symptoms for Ellie and her doctors to start connecting the dots. She was subsequently diagnosed with a life-changing trifecta of complex and poorly understood chronic conditions: hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (PoTS), and Mast Cell Activation Syndrome (MCAS). As for what that has to do with being flexible — it’s complicated. 

Let’s start with hEDS, which is often thought of in terms of hypermobile or bendy joints, fragile tissues, and stretchy or elastic skin. But these are just the visible tip of the iceberg; the external signs a doctor might look for to explain your other symptoms. For those living with hEDS, the symptoms with the biggest impact are largely invisible, like chronic pain, fatigue, and headaches.

“The Ehlers-Danlos Syndromes are hereditary connective tissue disorders of collagen,” Dr. Emma Reinhold, a former primary care physician, researcher, and clinical advisor who also lives with hEDS, POTS, and MCAS tells Refinery29. While there are 13 recognized subtypes of Ehlers-Danlos Syndrome, the hypermobile type that she and Ellie have is the most common, affecting an estimated one in 500 people. However, experts including Dr. Reinhold suspect hEDS is still significantly underdiagnosed, so the true prevalence may be much higher.

While you might associate collagen with skincare and anti-aging, its role in our day-to-day functioning is far more crucial. Collagen makes up 30% of the protein in our bodies and is the main building block of the connective tissues such as bones, ligaments, tendons, and cartilage that hold us together. So when the collagen isn’t adequately supportive, that understandably wreaks havoc across the whole body.

The symptoms are numerous, wide-ranging, and vague, making it tricky for general practitioners to diagnose. The Ehlers-Danlos syndromes GP Toolkit which Dr. Reinhold co-authored, advises doctors: “If you can’t connect the issues, think connective tissues.” Yet she says patients, like Ellie, are still typically passed from one specialist to another before anyone connects the dots.

To complicate matters further, there’s emerging evidence that hEDS commonly co-exists alongside other conditions (known as comorbidities), particularly, as in Ellie and Dr Reinhold’s cases, MCAS (an immunological condition where cells from the body’s immune system inappropriately release chemicals that trigger inflammatory reactions), PoTS (a form of autonomic dysfunction, where your heart rate increases very quickly after getting up from sitting or lying down), and other dysfunctions of the autonomic nervous system.

According to the charity PoTS UK, around half of patients with hEDS also meet the diagnostic criteria for PoTS, and vice versa, and a small-scale study of 195 medical records in 2021, found signs of MCAS in a third of patients with hEDS and POTS.

Perhaps the biggest challenge, for both patients and their doctors, is that medical understanding of all three conditions remains limited, and researchers are only just beginning to investigate the links between them. While experts like Dr. Reinhold have their own theories, we still can’t say for sure how or why they interact with each other, and a lot more research is needed.

In the meantime, living with the trifecta presents other, more everyday challenges. There is currently no medical treatment for hEDS because the research simply hasn’t caught up yet. “Collagen is a very complex structure, and it’s constantly being adjusted, so it will look very different at 9 a.m. from how it might look at 6 p.m. [Researchers] are really only just beginning to scratch the surface of understanding how collagen is produced,” Dr. Reinhold explains. 

Furthering that understanding will be crucial to figuring out how a treatment might be developed, but, according to Dr. Reinhold, there are very few researchers looking at it and, as is the case in so many areas of research, there’s never enough funding.

Symptoms of PoTS and MCAS can be managed with medication, as well as lifestyle adaptations, such as avoiding triggers wherever possible. “I take medication for the PoTS and the MCAS but I’ve also changed my lifestyle and habits to accommodate them,” Ellie says.

“I know my MCAS really hates hot weather and being out in the sunshine, and the heat also drops your blood pressure, which makes PoTS worse. The summer is a real trigger for both of those conditions for me, so it’s all about staying cool, staying indoors, and monitoring my fluids really carefully.”

For 41-year-old computer programmer, Amy*, who asked us not to use her full name, ensuring her pain and fatigue are well managed has taken a lot of work. “I have to be very careful about what I do. I only work part-time and we plan our weeks so we don’t do too much. Learning to pace effectively has made a really big difference to my symptoms, but also puts the biggest limit on what I do day-to-day,” she says.

Both she and Ellie now have such severe gastric issues that for the last few years they’ve been fed intravenously, which Amy says, in addition to medication, has helped to bypass many of the food sensitivities brought on by her MCAS. 

As with so many complex and under-researched health issues, there’s also a gendered element to the hEDS/PoTS/MCAS trifecta. Women are more than twice as likely as men to be diagnosed with hEDS, with one 2019 study showing 70% of patients were female. More than 85% of PoTS patients are women and, while data on the prevalence of MCAS is more scarce, small-scale studies and reports from clinicians suggest women are also disproportionately affected at a rate of around 3:1.

What’s interesting, Dr. Reinhold says, is that: “[We believe] equal numbers of males and females have the gene or genes for hEDS but all kinds of different factors — including infections and deficiencies in micronutrients like magnesium and vitamin D — can change the course of somebody’s disease and influence the impact it has on each individual.” 

For example, she explains, if someone contracts COVID, or the Epstein Barr virus (which causes glandular fever), they appear to be at greater risk of developing a chronic illness like long COVID or ME (myalgic encephalomyelitis) if they have the genetics for hEDS. Similarly, she says, any kind of infection can set off overactive mast cells or trigger autoimmune reactions in people predisposed to these three conditions.

Hormones are a particularly significant factor when it comes to the gender disparity. “Testosterone tightens up connective tissue, builds muscle bulk, and stabilizes mast cells. Whereas estrogen loosens connective tissue and progesterone, particularly fluctuations in progesterone levels, destabilizes mast cells,” Dr. Reinhold explains.

“For boys, or people assigned male at birth, once they get their hormone kick at puberty, they will often cease to be symptomatic, so they don’t go to their doctor and get a diagnosis because their condition isn’t causing them any problems. In girls, and people assigned female at birth, they become more symptomatic as they go into puberty, and their symptoms typically get worse around their period and during pregnancy,” she says.

Research also suggests gynecological problems disproportionately affect women with hEDS, particularly heavy, painful periods. “I suspect a lot of that is hyperactive mast cells reacting to the inflammatory process of menstruation and, instead of controlling the level of inflammation appropriately, they go completely overboard,” Dr. Reinhold adds.

Trans man Isaac Marsh, 31, was diagnosed with the trifecta two years ago, having experienced symptoms since his teens. “I was really, really flexible as a kid, and once I started puberty some of the symptoms of all three became more noticeable, although I didn’t realize what they were at the time,” he says.

“I had a lot of muscular and joint pain and aching, and then when I was 16, I suddenly became allergic to all my personal care products. Every time I used shampoo or anything I’d come out in massive, bright red hives, with really intense itching,” Isaac adds. 

By his second year of university, Isaac was experiencing dizzy spells and fainting, sometimes as often as 20 times a day, as well as allergic reactions to random foods, which resulted in an increasingly restrictive diet.

Menstruation was always a particular issue, he adds. “Before my transition, I always had really bad periods. I’d always get particularly sick and have more allergic reactions, I’d get a fever and feel like I had a horrible flu every month. Doctors said it was like my body thought it had a massive infection, but all that was actually happening was I was having my period.”

Isaac still hadn’t been diagnosed when he started his transition and knew nothing about hEDS, PoTS, or MCAS. So for him, it was an unexpected side effect when, much as Dr. Reinhold described, going on testosterone made a huge difference to his symptoms.

“Transition was extraordinary for me but, apart from the obvious emotional side, I honestly felt like a superhero because I could suddenly do everything again. My PoTS improved, I had loads of energy, I could eat anything I wanted, and I could exercise in ways I hadn’t been able to for years. It felt like a miracle,” he says.

For Amy and Ellie too, hormone treatment — the combined contraceptive pill in Amy’s case, and the implant and progesterone-only (mini) pill in Ellie’s — has helped with symptom management. “I’ve been on the pill for 20 years, and any attempt to come off it has meant my pain increased, my bowels got worse, so there’s definitely a hormonal component to whatever’s going on for me,” Amy says.

These treatments work by stabilizing hormone levels throughout the month, Dr. Reinhold explains, as people with hEDS appear to be particularly sensitive to fluctuations in the hormone progesterone. However, as is so often the way when it comes to hormonal treatments, they don’t work so well for everyone.

Sadly for Isaac, many of his symptoms did come back later, and he received his diagnosis the following year. He now takes a combination of antihistamines to manage his MCAS, but says testosterone has still been far and away the most effective treatment for him.

“I feel so lucky because I’m trans and it’s helped me with my condition, but it feels horrible when I’m talking to cis women who are still really struggling with it,” he says. “I desperately want there to be more research that helps all of us.”

In the meantime, Amy says, much more awareness is needed to challenge the stigma around these conditions. “Because we don’t know what causes hEDS, or PoTS, or MCAS, I think some doctors have come to believe they’re not real when clearly they are. Medicine needs to get much better at putting its hands up and saying we just don’t know yet.”