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.
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.