- “Chandelier” singer Sia has revealed she has a rare genetic condition called Ehlers-Danlos syndrome that results in chronic pain.
- The disease affects 1 in 5,000 people globally.
- It causes hypermobile joints, loose, stretchy skin, and ongoing fatigue, which makes someone more prone to injury and chronic pain.
Australian singer Sia has revealed that she has a rare condition known as Ehlers-Danlos syndrome, which causes her chronic pain.
“Hey, I’m suffering with chronic pain, a neurological disease, ehlers danlos and I just wanted to say to those of you suffering from pain, whether physical or emotional, I love you, keep going,” the singer, 43, wrote on Twitter.
The syndrome, which causes genetic defects in connective tissue, is very rare, affecting at least 1 in 5,000 people around the world — Sia being one of them.
By opening up about her condition, Sia has put a spotlight on this rare disease that may spark a conversation and educate people about the rare and painful genetic condition.
Many people with the condition can go months or even years with symptoms before getting a diagnosis.
Many people with the condition experience hypermobile joints, loose, stretchy skin, and ongoing fatigue, which makes them more prone to injury and chronic pain.
While the condition has been recognized for centuries, experts say there’s still a lot to learn about it in order to improve the diagnosis, treatment methods, and outlook of this painful disorder.
Ehlers-Danlos syndrome is a group of 13 genetic disorders that affect connective tissue, mainly in the skin, bones, joints, and blood vessels.
“These gene changes cause weakening of connective tissues of skin, bones, and other body parts,” explains Dr. Santosh Kesari, a neuro-oncologist, neurologist, and chair of the department of translational neurosciences and neurotherapeutics at the John Wayne Cancer Institute at Providence Saint John’s Health Center in Santa Monica, California.
Symptoms vary from person to person. For example, young children diagnosed with Ehlers-Danlos might experience difficulty with their motor skills, like sitting, standing, and walking.
Others may often dislocate their joints and have soft, stretchy skin prone to bruising.
More severe cases of Ehlers-Danlos could cause blood vessels to tear, causing internal bleeding and organ rupture.
Essentially, depending on which connective tissues are affected, you’ll experience a different set of symptoms.
“Although signs and symptoms vary among the different forms, the most common features are joint and skin that can stretch beyond normal limits, which put patients at risk for dislocations and easy bruising or scarring,” said Yili Huang, DO, the director of the Pain Management Center at Northwell Health’s Phelps Hospital in Sleepy Hollow, New York.
Because the joints and skin are so prone to injury, the body’s normal wear and tear can speed up, which causes chronic musculoskeletal pain, he added.
According to Huang, diagnosing Ehlers-Danlos can be a bit tricky.
Diagnosis includes a careful evaluation of family history, symptoms, and a physical exam. Some types of Ehlers-Danlos can be diagnosed via a genetic test.
“Diagnosing Ehlers-Danlos syndrome can be difficult because there are many different forms that have very different criteria and symptoms,” Huang said. “There are overlaps with many other common and rare diseases.”
Because it’s complicated to diagnose, it can be confused with other disorders affecting joints and flexibility, such as Marfan syndrome and joint hypermobility syndrome.
Furthermore, some symptoms may not even present as serious or severe at first, causing the condition to be overlooked.
“Unfortunately, too often Ehlers-Danlos patients may appear healthy and can be even classified as hypochondriacs. It is important [to] increase awareness and education of the disease and its diagnosis,” Huang said.
Unfortunately, there’s currently no cure for Ehlers-Danlos. But that doesn’t mean there aren’t treatments.
There are a range of treatments that can help people manage the condition.
“Treatment is usually with pain medications, risk assessment, and close monitoring for more severe conditions such as the blood vessel rupturing,” Kesari said.
If the blood vessels are affected, these patients will need to wear a medical alert bracelet to warn emergency healthcare providers, Huang noted.
Many people with Ehlers-Danlos benefit from physical and occupational therapy, which helps protect their joints from injury.
While there’s no cure, the disorder progresses slowly. Most patients with EDS live a long life; however, those diagnosed with the rare vascular EDS may harbor serious blood vessel abnormalities and a risk of sudden death. These individuals need closer observation and follow-up.
Although Ehlers-Danlos has been around since 400 BC, there’s still a lot to learn, according to Huang.
“Given how potentially dangerous and debilitating this genetic disease is, more research is definitely needed to help improve diagnosis and treatment,” Huang said.
Furthermore, many health experts and people with Ehlers-Danlos hope to expand awareness about the disorder’s symptoms, difficult diagnosis, treatment, and trajectory.
Australian singer Sia tweeted Friday that she lives with an inherited disorder called Ehlers-Danlos syndrome.
The condition, which is rare and affects about 1 in 5,000 people worldwide, affects the connective tissue within the body, like the joints, skin, and blood vessels. This makes people very prone to injuries, including joint dislocation and bruising.
Ehlers-Danlos can be complicated to diagnose, and there’s no cure — but patients can manage the condition with pain medications and physical therapy.