EHLERS-DANLOS SYNDROME: 'You just have to keep going'
In 1981, Alexandra Lloyd was a 25-year-old opera singer.
"One day, it was just 'ah-ah'" she said, motioning to her throat.
And that was only the beginning. In 1995, her hands stopped functioning properly. At the time, she was a massage therapist. In 1996, she was listening to music and her ears started ringing.
"At this point, I was starting to suspect — this is my whole body," she said.
Some times were better than others. During the stronger periods, she worked various jobs, including driving a school bus and delivering meals for Meals on Wheels.
Lloyd is a single mother of a daughter born in 1991.
"There was always a Plan B," she said. "Any time a part of my body would become injured, I would just do my best to stop using it."
Lloyd described how she set arbitrary limits to how far her condition could go. But the disease she didn't know she had — Ehlers-Danlos Syndrome — exceeded those limits.
In 2002, she stopped being able to sleep in bed.
"I've been sleeping in that recliner there for 15 years," she said, gesturing to the living room of her small home in Lee.
She's had to cover up her home's windows to keep out the light that hurts her eyes.
"There's one rule to this. Respect the pain," she said. "[I thought] 'Just please kill me. Just somebody put a bullet in my head.' I felt buried alive. My house was just a prison."
Lloyd went to the doctor expressing how badly she needed answers.
On March 17, after about 35 years of confusion and being disbelieved, Lloyd was diagnosed with EDS.
"Just knowing what it is has validated what I've known all along," she said. "I went through a lot of pain and suffering. Being not believed ... there may be others out there who may be wondering, 'what's wrong with me?'"
Ehlers-Danlos Syndrome is an example of a group of connective tissue disorders generally characterized by joint hypermobility, hyper-stretchable skin, and tissue fragility. EDS is categorized into 13 types. Symptoms vary widely.
Twelve of the 13 types, excluding hybermobile EDS, have identified genetic markers, said Lara Bloom, international executive director and patient expert at the Ehlers-Danlos Society.
Current data suggests the prevalence of EDS is about 1 in 2,500 to 1 in 5,000 people, according to the Ehlers-Danlos Society.
Each type involves a distinct problem in making or using one of the types of collagen — what the body uses to provide strength and elasticity to tissue.
The collagen of a person with EDS is not structured the way it should be, or only part of it is produced. Without properly structured and produced collagen, the tissue that relies on it can be pulled beyond normal limits and damaged.
Collagen is found almost anywhere in the body — not just skin, tendons and ligaments, but also blood vessels, organs, gums, eyes and other places.
Lloyd has hypermobile EDS — the most common type — with uncommon eye symptoms, including sensitivity to light and eye pain.
Other EDS symptoms include joint pain, loose or unstable joints, arterial, intestinal or uterine fragility or rupture, scoliosis, and slow and poor wound healing.
EDS also tends to have significant gastrointestinal symptoms like irritable bowel syndrome, said Jeff Milunsky, a doctor and co-director of the nonprofit Center for Human Genetics in Cambridge. Very high incidences of depression and anxiety are also associated with EDS, he said.
An EDS patient could be anywhere from asymptomatic to wheelchair-bound, Bloom said.
Sometimes, no matter what treatment a patient gets, they inevitably end up with severe symptoms, Bloom said. But more often, people with EDS end up in worse condition than they would have been, had they received appropriate help earlier, she said.
"More often, people are as disabled as they are and as in pain as they are because they have been left and neglected, and that's the problem," she said. "There's a massive lack of education and awareness."
Misdiagnoses are common due to the varied ways the disease can present. The condition is made harder to diagnose when patients aren't examined by a multidisciplinary team, she said.
Lloyd previously received a diagnosis of fibromyalgia, a disorder characterized by muscle pain and fatigue.
Fibromyalgia is a common label for patients with EDS, but it represents an incomplete picture, Milunsky said.
EDS is an extremely under-diagnosed condition. Many primary care doctors don't know about it, and even specialists can lack the ability to examine all aspects of the condition, Milunsky said.
EDS is diagnosed through specific diagnostic criteria, but symptoms can vary greatly.
Appropriate exercise — keeping as mobile as possible while respecting the diagnosis, a quality diet, and therapy can help those diagnosed with EDS. There is also growing evidence that supplements can also help, Bloom said. Some patients also find they need painkillers. Milunsky's office implements a holistic approach to pain, including acupuncture and biofeedback.
Bloom has personally found Vitamin C, B12 and D to help with her EDS, but cautioned that different patients need different treatments.
"This is a very difficult condition to manage and to treat," Milunsky said. "The patients are hurting."
Lloyd remembered when she spent a couple of months meticulously planning her suicide.
"And then I realized I really couldn't do it to [my daughter]," she said. "I don't think that way anymore. What really helped was getting the diagnosis. This is what it is. You're not alone."
She could have avoided injuring herself further, had she known what her condition was, she said.
"Just don't push," she said. "That's what I kept doing. [I thought], 'It's all in my head anyway.' You really feel like you're insane, like you're in a nightmare that just won't end."
Now that she has a diagnosis, Lloyd said she's had to accept the chronic nature of her condition.
"I know I have to create a life anyway," she said. "As with anything ... you just have to keep going."
Reach staff writer Patricia LeBoeuf at 413-496-6247 or @BE_pleboeuf.
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