Rare by Birth, Valiant by Choice
An unexpected surprise in my life was being diagnosed with Klippel-Trenaunay Syndrome. It’s a rare, random (meaning not hereditary) genetic mutation causing complex vascular malformations which can singularly or in combination include the absence of, overgrowth in, undergrowth of, and weaknesses in two or more of the following vascular components — capillaries, veins, and lymphatic vessels while also affecting soft tissue, connective tissues, bones, and internal organs. It is now considered to be in the PIK3CA-Related Overgrowth Syndrome family; meaning is have been in the PROS my whole life. Who knew.
By way of history, I was diagnosed in 2002 at age 48 after being diagnosed in 1997 at age 43 with chronic peripheral neuropathy which had already put me in a reclining chair 24-7; shockingly I was given marginal hope that I would ever be able to safely walk again. As it would be, the prior is thought to have been caused by the latter. My experiences with these two rare syndromes solidified my young skepticism about the practice of medicine — a society of well-meaning professionals who likely will not be able to claim science is settled for quite some time to come. Not every diagnosis is firm and not every prescription is a guarantee.
My counsel to fellow companions and their loved ones is to be diligent! Be curious! Be strong!
Provided below are passions of mine. If you are so predisposed please check these out. Let’s make a difference in the lives of kids with a rare syndrome that hits about 1 in 100,000 kids during gestation. It’s incurable and in many many cases inoperable, although medicine is working hard on the latter.
A world-class digital scrapbook that includes engaging messages and stories from K-T Syndrome affected and extended family. We see the future and it includes today’s KT Kids knowing that they are special; not because of KT, but rather because their KT family is a world-wide community living life in a big way. Leave no doubt […]
A worldwide registry of those affected by Vascular Anomalies which got its start when author William Lee looked for a way to connect with others traveling an unexpected path. The directory includes those born with genetic anomalies, as well as parents, siblings, partners, friends, medical professionals, and supporters. Individual participants must formally approve of their […]