To finally get a diagnosis, 20 years after complaining of symptoms – and being told it was all in your head – might, to some, come as a relief. “You would think that,” says Dr Alissa Zingman. “But most of it was grief.” Zingman was diagnosed with Ehlers Danlos Syndrome (EDS), a genetic condition that affects the connective tissue in the body. “The thing about connective tissue is that it’s everywhere,” says Zingman, who trained in orthopaedic surgery. “It can affect your eyes, your nervous system, your gastrointestinal system. It affects the spine and joints.”
There are rarer versions of the syndrome, such as vascular EDS, which make the walls of arteries and some organs at risk of rupture, but Zingman has the more common hypermobile EDS. As a child and teenager she had been a semi-professional dancer, thanks in part to her extreme flexibility, but, by the time she was diagnosed in her 30s, having become a doctor and had a daughter, she had given up her orthopaedic surgery training, and some days could hardly walk.
She had slipped discs in her spine – one while doing nothing more than sitting at her computer – and she was in and out of hospital with gastrointestinal issues, her stomach so bloated that she looked heavily pregnant, and often felt on the verge of passing out. There were times she was also suffering incontinence. “By the time I got diagnosed,” she says, “I was so far gone.” When we meet over Zoom – Zingman speaking from Maryland, US – she couldn’t appear more different. She seems so energetic and articulate, laughing often.
Her diagnosis wasn’t a relief, she says, because there is no cure. The consultant who diagnosed her told her she could expect a 10%-15% improvement with some treatment. “I was barely able to take care of my daughter on my own, and unsure if I was well enough to practise medicine at all – so to think the best I could hope for was a 10%-15% improvement was …” She pauses. “It was probably the lowest I’ve ever been.”
Zingman had worked hard to qualify as a doctor, and owed hundreds of thousands of dollars in student loans that she wasn’t sure she would be able to repay. She says she would get through the day, work when she could, play with her daughter, “but once she was asleep, I didn’t come out of my room. My husband thought he’d married this rock star surgeon, who had been going to the gym twice a day and doing dance performances, and now he had this person whose capabilities were so diminished – I just felt small.
“It was a terrible feeling, but I had a supportive spouse who was the primary breadwinner; I wasn’t a single parent living in poverty, with no family support. It’s really hard, looking at other people going through this without the education, resources and support system that were all such huge advantages for me.”
In 2019, Zingman opened her own clinic in Silver Spring, Maryland, to treat people with EDS. It is busy – the week we speak, patients from the UK and Australia have travelled to see her. “Within three months, I had a three-month waitlist. That’s very much about need, and lack of resources,” she says. She has also established a foundation to collect data and undertake research into the condition. “I think it has the potential to impact so many more people than I could ever see at a single clinic in Maryland.”
EDS is believed to affect one in 5,000 people, but with little research into it, and with many undiagnosed or misdiagnosed, it is likely to be more common. One of the reasons it can be so hard to get a diagnosis, says Zingman, is that it doesn’t fit into any medical specialism and patients may see lots of different specialists – cardiovascular, gastrointestinal, musculoskeletal – for symptoms, without anyone joining the dots.
It is also not insignificant that EDS is a condition more likely to affect women, who have been historically underserved in healthcare. Zingman remembers, as a trainee, the women who would come in with multiple joint complaints and were also very flexible. She would hear senior doctors describe them as a “floppy female”.
She was about 14 years old when she started getting injuries – the start of two decades of being dismissed by medical professionals. “Doctors kept saying, ‘It’s because you dance so much’, and I thought: other people are also doing what I’m doing, but I’m the one getting injured.” After she ate, food would often come back up, but she was told it was due to anxiety.
Zingman learned about EDS in the second year of her medical degree but only briefly – mainly that people with EDS are very flexible and prone to dislocations. But it was enough to make her think she might have it. She’d had lots of dislocations, and had recently dislocated her kneecap just getting out of bed. Zingman says she asked to be evaluated for EDS, but was told it was in her head – that medical students were famous for thinking they have the diseases or conditions they learn about. “But in this case, it was true!” she says.
Around that time, she was developing instability in her neck – loose ligaments meant the vertebrae moved too much. “Some of the symptoms of that are difficulty concentrating and focusing, because your eyes need to be coordinated with the back of your brain.” It made studying hard, and she would have to spend almost an equal time at the gym, undoing the damage of sitting at a desk for even just a couple of hours.
Zingman became so stressed by her symptoms, and the fact that nobody would listen, that she was referred to a mental health clinic. They diagnosed her with ADD but this made no sense to her. Even so, she took the medication, Adderall, despite a side-effect being an increased heart rate – something Zingman definitely did not need.
An elevated heart rate is associated with EDS, and she would often wake in the middle of the night with her heart racing. She was sure it was due to the medication, but a cardiologist gave her a heart monitor to wear. “I couldn’t wear it because I was allergic to the adhesive, which is also very typical of people with EDS,” she says, laughing at the ridiculousness of it. “I just gave up.”
How did it feel to be dismissed constantly? “You have moments where you doubt yourself, where you think maybe I’m just not tough enough, med school is just too hard for me, I’m not as smart as everybody else here,” she says. It felt hugely damaging, she says, “to be made to feel that you can’t trust yourself”. As a doctor, it has taught her that “when you see a new patient, and there’s something you don’t understand, the most likely answer is that it’s real, and you just don’t understand it, as opposed to: ‘It’s in the patient’s head.’”
For a while, Zingman’s health improved. She met her husband, and was working as a surgical intern, putting in up to 100 hours a week, and was also doing around two hours a day of exercises she had devised for herself. “I knew I had a connective tissue disorder, and I knew my only option was to just keep myself as healthy as possible.”
The accumulated strain of working at that pace for several years, and her pregnancy, proved too much. She ended up in hospital several times with gastrointestinal issues. Then she lost her voice. The ear, nose and throat specialist she saw said her vocal cords were in such a bad way that it looked as if someone had poured acid on them. “I said: ‘Well, yeah, I’ve been regurgitating my food for years.’” He was the first medical professional to take her seriously.
It was, says Zingman, a “transformative doctor’s appointment for me, because I had given up on anyone ever figuring out why this was happening, or caring”. He referred her to a gastrointestinal specialist, who couldn’t find anything specific, but put her on a low-Fodmap diet, avoiding certain carbohydrates that put stress on the gut, which helped.
Around the same time, she went for dinner with a friend from medical school, now working in neurology, because she thought he would believe her and might help – “I’d already been to a spine surgeon who told me I was fine, said not to get hysterical, and wouldn’t order an MRI” – and he was horrified when she turned up, radically different from the healthy person he’d once known. “That was a big wake-up call for me. I was so used to struggling, I was just putting one foot in front of the other.”
She was eventually diagnosed with EDS after seeking out a specialist, but – after that initial low period – Zingman refused to take her best-case 10%-15% improvement. She made her own treatment plan. The anti-inflammatory diet helped, and she cut out gluten, believing she also had coeliac disease, which is more common in people with EDS. She got out her anatomy books and started to work out what would help – if she had a headache, for instance, she would find which vertebra had shifted out of place and manipulate it back into position. Sometimes this involved getting other people involved, such as personal trainers or pilates instructors, “who would let me tell them what to do, like, ‘put your thumb a little bit higher, push there’ and then it would pop back in, and I’d be like: ‘I’m better.’”
When she went back for a follow-up almost a year later, the doctor was surprised at how much Zingman’s health had improved and urged Zingman to start her own EDS clinic. It would be another two years before she did, but during that time, while working in occupational medicine, Zingman diagnosed – and treated – two other people with EDS. “Both were struggling and I thought, I’m going to try some of the stuff that I do on myself on them.” She says: “They got so much better.”
Before opening her clinic, she spent time shadowing doctors who were experienced in treating patients with EDS to learn all she could about the condition – she describes herself as a musculoskeletal preventive medicine specialist, rather than an EDS specialist, a specialism which doesn’t, she points out, formally exist. It’s why she wants to formalise the knowledge and training. Her treatment involves tackling inflammation, either through diet, or through looking for and treating infection; getting bones into alignment and checking muscle tension. She looks at the body as a whole – neck strain, for instance, may be a knock-on effect of diaphragm and breathing issues, or jaw problems. “I started off cautiously, in terms of what I did. I’ve become more confident because I’m now seeing a couple of hundred people with this condition, and we have really good results.”
Her waiting list for new patients is currently more than three years, though the clinic is expanding and she expects the wait to reduce. However, finding staff is a struggle. Many doctors have only had the slightest training in EDS – Zingman also wants to write a training manual, train other doctors and open new clinics in other locations, but she’s struggled to find the time. It also pains her that her services are available only to those who can afford it (in the UK, too, many EDS specialists are found in private practices).
Alongside this, she still has to manage her own health. Twice a week she has two hours of “manual medicine – muscle activation techniques”. She does breathing exercises daily, tries to maintain good posture, and finds soaking in a bath with Epsom salts helps.
Small things can become bigger issues – her dog jumped on her shoulder and left her with problems for a while. And bigger problems take a long time to get over: during an endoscopy for one of her stomach issues, her jaw dislocated and, more than two years on, she still hasn’t fully recovered.
Yesterday at her clinic, she says, she choked on her own saliva, “and because I still have that vocal cord issue, I went into a spasm where I coughed until I threw up”. That sort of thing is rare now, thanks to medication to treat mast cell activation syndrome – which provokes an inflammatory response in the body – and a course of antibiotics, as well as diet, to correct a condition known as small intestinal bacterial overgrowth. But it once would have been a daily occurrence. “It was a crazy way to live.”
Like her, most of her patients have struggled for years without a diagnosis or treatment. Seeing them improve is “just extremely gratifying”, she says. Thinking back on all the missed opportunities, when she could have had a diagnosis, motivates her to continue her work. “What could have been different?” she asks. “And how can I make that different for the next generation of people?”