Singer-songwriter Sia announced via Twitter Friday she has an obscure but painful genetic condition called Ehlers-Danlos.
“Hey, I’m suffering with chronic pain, a neurological disease, (E)hlers-(D)anlos and I just wanted to say to those of you suffering from pain, whether physical or emotional, I love you, keep going,” Sia tweeted.
The 43-year-old Australian music star, born Sia Kate Isobelle Furler, topped the U.S. charts for the first time in 2014 with her album “1,000 Forms of Fear.” She was already famous in industry circles for penning tunes popularized by the likes of Britney Spears, Rhianna, and Beyoncé.
Sia followed up Sunday on Twitter, mentioning she was struggling with several other diagnoses in addition to Ehlers-Danlos.
Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues, according to William C. Shiel Jr., MD, FACP, FACR, arthritis specialist and chief editor for MedicineNet.
The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type, Dr. Shiel says. The fragile skin and loose joints often result from abnormal genes that produce abnormal proteins. These confer an inherited frailty of collagen (the normal protein “glue” of our tissues).
In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). Abnormalities in this protein, called tenascin, also lead to a form of Ehlers-Danlos syndrome. Researchers suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body, Dr. Shiel says.
Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given patient, Dr. Shiel says.
Skin protection (from injury of trauma and sun, etc.) is critical. Wounds must be tended with great care and infections treated and prevented. Suturing can be difficult as the skin can be extremely fragile, he says.
Dr. Shiel points out that joint injury must be avoided. Occasionally, bracing may be necessary to maintain joint stability. Exercises that strengthen the muscles that support the joints can help to minimize joint injury. Contact sports and activities involving joint impact should be avoided, he says.