Sia and Jameela Jamil recently shared that they suffer from the rare, incurable disorder. Here, experts and real women share what living with EDS is really like.

By Caroline Shannon-Karasik
Oct 28, 2019 @ 1:00 pm
Guille Faingold/Stocksy

Singer and songwriter Sia announced on Twitter earlier this month that she’s suffering from Ehlers-Danlos syndrome (EDS),  a group of connective tissue disorders that most commonly affects the skin and joints.

Sia’s fans immediately weighed in, many of them offering words of encouragement. Some of them even said that they, too, suffer from EDS, a condition that affects approximately 1 in 5,000 people worldwide, according to the National Institutes of Health (NIH). Actress Jameela Jamil also replied to Sia’s tweet, revealing that she was diagnosed with EDS when she was a child. 

While EDS is rare, revelations like Sia’s and Jamil’s have shone a light on what it's like to live with the incurable condition, which often takes years to diagnose. Here, everything you need to know about Ehlers-Danlos syndrome, including the symptoms and treatment options.

What Is Ehlers-Danlos Syndrome?

For starters, Ehler-Danlos syndrome is in fact a group of disorders — there are 13 subtypes that fall into the EDS category that can manifest in a variety of ways.

"Ehlers-Danlos syndromes are a group of connective tissue disorders caused by defective collagen, characterized by hypermobile and painful joints, extensible skin, and fragile tissues," says Claudiu Austin, M.D. a board-certified internal medicine physician and member of The Ehlers-Danlos Society.

The defective collagen is due to mutations in collagen genes, which are usually inherited from parents, but can also occur randomly, he explains. 

Because collagen's job is to connect structures of the body —including the skin, tendons, ligaments, and blood vessels — a defect in collagen can affect "virtually any organ" in the body, Dr. Austin explains. "This explains the seemingly unrelated symptoms EDS presents with," he says.

What Are the Symptoms of EDS?

And that list of EDS symptoms is long — including everything from eye problems to digestive issues like IBS. Depending on the EDS subtype, symptoms can be mild or life-threatening.

Two of the most common symptoms seen in all subtypes of Ehlers-Danlos are soft, velvety skin that's highly stretchy and fragile — and more prone to scarring and bruising — and loose joints.

This joint instability and hypermobility can lead to dislocations as well as joint and muscle pain, Dr. Austin says. And as a result of weak tendons and ligaments, patients are more prone to falls and sports accidents. 

There are also many neurological and spinal problems connected with EDS; early onset arthritis, scoliosis, neck pain, headaches, and fatigue are all common symptoms, Dr. Austin adds.

These symptoms could be the root of Sia’s follow up tweet that revealed she has two herniated discs, as well as cubital tunnel syndrome, a condition that causes pressure on or stretching of the ulnar nerve (aka your "funny bone") and can lead to numbness, tingling, and pain.

How Is EDS Diagnosed?

The Ehlers-Danlos Society notes that EDS subtypes overlap with other connective tissue disorders — like hypermobility spectrum disorders — so it’s important to get a diagnosis that not only points to EDS as the cause of your symptoms, but the subtype of EDS you might be dealing with.

When it comes to diagnosing the most common form of EDS (hypermobile), Dr. Austin says the "there are no specific lab tests at this moment" — meaning diagnosis is reliant on a physical exam and a patient’s medical history.

Other types of EDS can be diagnosed by genetic tests (by looking for specific gene mutations), or with specialized imaging tests, like CT scans or MRIs, Dr. Austin says.

In other instances, a derm may be helpful. “If you have skin symptoms, a board-certified dermatologist can examine your skin and perform a skin biopsy if necessary," says Noëlle S. Sherber, a Washington D.C.-based dermatologist.

The Ehlers-Danlos Society offers a comprehensive medical directory that can help patients discover a doctor who can provide not only a diagnosis, but treatments targeted at their specific needs, including practitioners who specialize in chiropractic care, orthopedics, physical therapy, optometry, and neurology.

Still, Dr. Austin notes that EDS is not typically an easy diagnosis, given that both the definition and classification of the disorder are still evolving. Simply put, the majority of physicians just aren’t familiar with EDS.

"What our patients tell me when we make the EDS diagnosis is that they have seen [many] doctors over many years, and had hundreds of tests and yet received no diagnosis," Dr. Austin says.

"Since childhood, they were called clumsy and accident-prone; then they were accused of faking symptoms, looking for attention, or diagnosed with psychogenic symptoms," he explains. "My patients are relieved to learn that there is a disease to explain all their symptoms.”

What Living with EDS Is Really Like

That was the case for Katie Harris, 38, who began to experience inexplicable symptoms in high school, including aches and pains, as well as dislocations and broken bones. By the time she was in college and playing tennis while on scholarship, her joints would not stay in place and she became "desperate to find some kind of explanation."

"My whole body felt like burning acid was flowing through my veins," says Harris, who was diagnosed with EDS in 2011. "I lost feeling in most of my body, my vision and hearing were affected, I was passing out constantly, my blood pressure would [rapidly] fluctuate, and I started having seizures."

The next several years included multiple surgeries, including a cervical fusion to repair the ligaments in her neck — "they were not holding my skull up" —and vision, Harris says. 

For others, like Debby Fireman, 53, who was diagnosed with EDS 28 years ago, symptoms are less severe but still require living with "chronic, severe and sometimes debilitating pain." 

"Not only does every bendable joint in my body hurt on any given day (sometimes all at once; sometimes several), but I have to be aware of every move I make to try and prevent dislocations,” she says. (According to The Mighty, 99 percent of people with EDS experience chronic pain.)

As a result of being born with defective collagen, or what she calls, "the glue that holds all of me together," she deals with a "crazy patchwork of ailments" and over overall, she describes living with the condition is an unpredictable journey — "no two days are the same."

As with any chronic condition, the physical ailments often come with emotional struggle, too. "I won't sugar coat it," Harris says of life with EDS, which has led her to be dependent on a wheelchair. "It's hard. It's hard to lose so much independence, have so many doctors not understand what is going on, and to [not have] many answers. It all obviously took a toll on me physically, but it also took an incredible toll on me mentally."

What Are the EDS Treatment Options?

While there is no cure for EDS, there are treatments that can help ease specific symptoms related to the disorder. With the exception of vascular Ehlers-Danlos syndrome — a rare form of EDS that affects one in 50,000 to one in 200,000 people  and can result in a shortened life expectancy — patients with EDS are expected to live a full life with the assistance of various therapies.

"I had to find a completely new way of living and really had to learn to be an advocate for myself with doctors," says Harris, who relies on hot baths, physical therapy, pain medication, and her service dog help with her symptoms.

Fireman says her pain management plan has evolved throughout the last several years to include Pilates, physical therapy, yoga, massage, medical marijuana, pain medication, cold laser therapy, spinal manipulation, acupuncture, cupping, and even surgery.

While getting a diagnosis can help put a name to years of undiagnosed symptoms, it's still a scary one to receive because of the lack of clear treatment path to go down.

"As I think back to my diagnosis, I remember feeling helpless, hopeless, and directionless as to where to turn or what to do," Fireman says, pointing to resources that have helped her find a supportive community, like The Mighty app and Facebook group EDS - Zebras Need Zebras, which is a reference to the EDS mascot. “It’s scary the moment someone learns that they have a condition that will be lifelong.”

But Fireman says she maintains a positive outlook to go with "the mess that is EDS" and focuses on minimizing stress — which can worsen EDS symptoms — to help reduce symptoms, as well as "listening and honoring my body every minute, every day."

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