My older brother Paul had an adventurous spirit, often being referred to as a daredevil. He was also considered an accident-prone child. He experienced unexplained bruising and his skin seemed to easily tear. Throughout school, Paul’s pediatrician advised against participation in physical education because the simple act of running caused such an impact on his vascular system that his legs would turn black and blue. We knew something wasn’t right, but his pediatrician couldn’t figure out what was causing these symptoms.
Sobi listens. We listen to each other, we listen to our patients, we listen to caregivers and physicians. Listening helps us fulfill our purpose
Paul was 11 years old when my parents first heard the words “Ehlers Danlos Syndrome.” Due to his bruising and subcutaneous hematomas, he was sent to a vascular specialist who suspected vasculitis -- a bleeding disorder. He underwent numerous bleed time tests and labs. His doctor also noticed Paul’s arm span was longer than he was tall, which could be either Marfan Syndrome or Ehlers Danlos Syndrome (EDS), so she sent Paul to a dermatologist. The dermatologist’s assessment was “type II mitis benign.” He wrote it on a piece of paper and advised my mom not to look it up because the outcomes were scary.
At 16, two weeks before getting his driver’s license, Paul suffered a stroke on his optic nerve and lost partial sight in his left eye; this was later classified as an aneurysm. He saw a geneticist and a biopsy was sent to the University of Washington, at the time one of the only labs in the country that tested for EDS. My parents were so relieved when they received the negative test results. Their elation was short-lived. Not 15 minutes later, the phone rang with the devastating news: The wrong test results were shared. My brother did have Vascular Ehlers Danlos Syndrome, previously known as Type VII.
It took nearly Paul’s entire childhood to learn he had a rare disorder. Seven days before starting college, Paul suffered a pneumothorax, or collapsed lung, which was the start of one major medical catastrophe after another. Our parents spent months by Paul’s bedside at a hospital nearly two hours away from our home, while my younger brother, Michael, and I did our best to continue with school.
I idolized Paul. As I learned more about his disorder and genetics, I wondered if this was something I could have too. Fortunately, his disorder was not inherited but caused by a faulty gene mutation; a significant relief for myself and my parents. At the time, Paul was one of only 1,500 vEDS patients in the US, leading to an estimated minimum prevalence of 1 in 200,000.
As I was starting my career, I worked with a gentleman who I later learned also had Vascular Ehlers Danlos Syndrome. While he didn’t talk about it, he knew about my brother and became a sounding board for me. Today, his family is a great source of inspiration, courage, and hope for the future as they've established a foundation with the mission to raise awareness and funding for research. The opportunity to enter the healthcare industry and focus on rare disease is deeply personal for me. The work we do fills my cup every day. We have the opportunity to make an impact on patients and families and that’s something I don’t take for granted.
Sobi listens. We listen to each other, we listen to our patients, we listen to caregivers and physicians. Listening helps us fulfill our purpose of putting the needs of people living with rare diseases first. I’m honored to work in the field of rare diseases and to contribute to our mission of positively impacting those affected by little-known disorders. It’s about more than the patient; it extends to the full family unit. The family’s journey is just as significant.
Everyone's experience navigating the world of rare disease is unique and not all have a positive outcome. The Sobi team works each day to bring hope to families and we’re very focused on changing these outcomes as much as possible. We advocate, we support, we educate, we listen. Even to this day my brother’s memory inspires me. After his diagnosis, Paul's motto was, "Live N.O.W - No Opportunity Wasted". His words keep me present and keep my purpose at the forefront.
Vascular EDS is a rare genetic disorder that is life threatening and affects all tissues, arteries and internal organs making them extremely fragile. The COL3A1 gene is the glue that holds everything together and gives instruction for making collagen type III, a tough fiber-like protein that makes up one-third of our body protein. When this gene is altered, it causes a lack or deficiency of this collagen making the connective tissue less effective, particularly in skin, lung, uterus, intestine, and the vascular system.