I was diagnosed with Klippel-Trénaunay Syndrome (KTS) at the age of 14, having enjoyed a full and active life until then. The worst impact as a young girl was managing people’s stares at the port wine stain that affected my right leg from my toe to hip. While receiving my diagnosis, my medical team also informed me about the life-long limitations of the condition, and this experience was devastating.
For a long time, I never saw myself in the online photos I found of others living with KTS and believed my case to be mild. Or maybe diminishing my symptoms was a way of coping. My presentation to doctors and specialists (too numerous to calculate over the years) has often been their first encounter with KTS and I’ve needed to balance my support needs with managing their curiosity. Certainly, for decades, it was the psychosocial impact that caused the most distress.
Now that I am 51, the progressive and degenerative nature of KTS is becoming more known, and my capacity to engage in everyday activities is more and more limited. I have always had strong supports in family and friends, and their acceptance has been both challenging and a comfort.
While research continues and has recently implicated a link with the PIK3CA gene, there is still no known cause of KTS. Ongoing management is conservative (but financially draining), comprising of physical and psychological therapeutic supports. As I have been mostly able bodied for most of my life, I now struggle with a mindset that debates my eligibility for supports that make my life more manageable. I struggle to finance the therapies that are barely covered by private health insurance, while other limited financial support is available through Medicare.
For decades, the literature and information available online has originated mostly from the United States of America. There has been very little representation (knowledge and education) of KTS locally in Australia. Only in the past five years or so, have I discovered Australian hospitals including web pages on vascular malformations more generally or KTS specifically.
