Understanding Ehlers-Danlos Syndrome: Symptoms, Challenges, and Coping Strategies
Ehlers-Danlos syndrome (EDS), a disorder that singer and songwriter Sia revealed on Twitter that she’s suffering from, is a rare genetic disorder that affects the body's connective tissues, leading to a range of symptoms that can be difficult to manage. While it is relatively uncommon, EDS can have a significant impact on the lives of those who are affected by it, and it is important for individuals and healthcare professionals alike to be familiar with the condition. This condition affects approximately 1 in 5,000 people worldwide. In the response to Sia’s tweet, many have since come forward to reveal they too are suffering from EDS, including actress Jameela Jamil, who disclosed that she had EDS as a little child. Despite the fact that EDS is an uncommon ailment, admissions like Sia and Jamil's have shed light on what it's like to live with the chronic illness which sometimes takes years to diagnose. As an homage to Ehlers-Danlos Syndrome Awareness Month, we round up all the information you need about this disorder, including its signs and symptoms and available therapies.
What Is Ehlers-Danlos Syndrome?
There are currently 13 subtypes of EDS, each with their own unique set of symptoms and genetic causes. The most common subtype is called the hypermobility type, which is characterised by joint hypermobility, skin that is soft, stretchy, and bruises easily, and chronic pain. Other subtypes of EDS include classical, vascular, kyphoscoliosis, and dermatosparaxis — each subtype with its own set of symptoms and complications. EDS is caused by mutations in genes that are responsible for producing or processing collagen, which is a major component of connective tissue. The disorder is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their offspring. A collagen deficiency can damage "virtually any organ" in the body because collagen's function is to connect tissues of the body, including the skin, tendons, ligaments, and blood vessels. This explains why EDS manifests seemingly unrelated symptoms.
What Are the Symptoms of EDS?
The symptoms of Ehlers-Danlos Syndrome (EDS) can vary depending on the subtype of the condition. Skin abnormalities are among the most common symptoms, with the skin being stretchy, soft, and easily bruised. Some individuals with EDS may develop abnormal scarring or have fragile skin that tears easily. Joint hypermobility is another symptom, in several subtypes of EDS, particularly the hypermobility subtype. Joint hypermobility can lead to frequent dislocations and subluxations (partial dislocations) of the joints, which essentially means that patients are more susceptible to falls and sports accidents. Other neurological and spinal issues associated with EDS include early onset arthritis, scoliosis, neck pain, headaches, and weariness. These signs may have caused Sia to tweet later that she had two herniated discs and cubital tunnel syndrome, a disorder that puts pressure on or stretches the ulnar nerve, sometimes known as your "funny bone," which can cause tingling, numbness, and discomfort.
How Is EDS Diagnosed?
Diagnosing the Ehlers-Danlos Society (EDS) can be challenging because the symptoms can vary widely between individuals and even between different subtypes of the disorder. It's crucial to receive a diagnosis that not only implicates EDS as the root of your symptoms but also identifies the subtype of EDS you may be experiencing. EDS subtypes overlap with other connective tissue illnesses, such as hypermobility spectrum disorders.
EDS is caused by mutations in genes that are responsible for producing or processing collagen. Genetic testing or specialised imaging tests like CT scans or MRIs can help identify the specific subtype of EDS and the genetic mutation responsible for the disorder. Since there are no specific lab tests at this time to diagnose the most prevalent form of EDS (hypermobile), the doctor will review the patient's medical history and perform a physical examination to look for signs and symptoms of EDS, such as joint hypermobility, skin laxity, and scarring. In other instances, consulting a dermatologist might be beneficial as a board-certified dermatologist can inspect your skin and perform a skin biopsy if required.
The Ehlers-Danlos Society provides patients with a thorough medical directory which makes finding the right physician not only accessible, but also treatments that cater to an individual’s needs. These specialists include those who focus on chiropractic care, orthopaedics, physical therapy, optometry, and neurology. Despite this, EDS is not always a straightforward diagnosis because the disorder's description and categorisation are constantly evolving. Simply put, most medical professionals are ignorant of EDS.
Numerous individuals have undergone hundreds of tests, seen dozens of doctors over many years, and still have not been given a diagnosis. As children, patients with EDS were labelled as clumsy or seeking attention, or given the diagnosis of psychogenic symptoms. Imagine the relief these patients feel when there’s a disease associated with their condition.
What It's Really Like Having EDS
Living with EDS can be challenging and unpredictable. Some, like Katie Harris who was diagnosed with EDS in 2011, age 38, reported that they began experiencing symptoms like aches and pains, as well as dislocations and broken bones when they were in high school. When the same patient enrolled into college and started playing tennis, her joints wouldn’t stay in place. Harris related that her whole body felt like there was burning acid running through her veins. On top of that, she lost sensation in most of her body, her vision and hearing were compromised, blood pressure would fluctuate and she started having seizures. The following years saw multiple surgeries, as well as a cervical fusion to treat her neck ligaments, which weren't holding her skull up.
In other cases, such as that of Debby Fireman, 53 who was given an EDS diagnosis 28 years ago, experienced much less of the severe symptoms but still needed to work through the more chronic, severe but occasionally debilitating pain. She also adds that she needs to be mindful about every move she makes to prevent dislocations, with every bendable joint in her body hurting on any given day (sometimes all at once, sometimes multiple times). The Mighty states that 99 percent of people with EDS suffer from chronic pain. "No two days are the same," Fireman said, describing living with the disease as an unpredictable trip. In addition to physical symptoms, people with EDS may also experience mental health challenges. The unpredictable nature of the disorder can lead to anxiety and depression, and the pain and physical limitations can lead to feelings of isolation and frustration.
How Do You Treat EDS?
There is currently no cure for Ehlers-Danlos Syndrome (EDS), so treatment is focused on managing the symptoms and preventing complications. The specific treatment options will depend on the subtype of EDS and the individual's symptoms. Patients with EDS are anticipated to live full lives with the aid of various medications, with the exception of vascular Ehlers-Danlos syndrome — a rare variant that affects one in 50,000 to one in 200,000 people and can lower life expectancy. One patient suffering from EDS relayed that her pain management plan included Pilates, physical therapy, yoga, massage, medical marijuana, pain medication, cold laser therapy, spinal manipulation, acupuncture, cupping and even surgery. While finally receiving a diagnosis can finally put a name to years of undiagnosed symptoms, it can be frightening when there’s no evident course of action to take. This is where finding a supportive community such as The Mighty app and Facebook group EDS - Zebras Need Zebras, which is a reference to the EDS mascot can be of aid. When someone finds out they have a permanent disease, it might be frightening. However, maintaining a positive paradigm and limiting stress which typically worsens EDS symptoms can help. That, and honouring and listening to the body every day bodes well too.