Rare Disease Day – All About Stickler Syndrome

General Information The rare disease I live with is Stickler’s Syndrome, Type III (formerly hereditary arthro-ophthalmopathy) as a result of a mutation of the COL11A2 gene. Because of a genetic flaw, my collagen strand is weaker than normal.  This affects hearing, vision, facial development, and joints. Stickler Syndrome is so rare that it doesn’t even have… Continue reading Rare Disease Day – All About Stickler Syndrome

Rare Disease Day

About a year ago, I was diagnosed with Stickler Syndrome. Stickler Syndrome is a common, but rarely diagnosed progressive genetic disorder that causes severe myopia (nearsightedness), blindness, loss of hearing, facial development problems, hypermobility, and joint pain. I am finally to the point of acceptance that I’m willing to talk about it and be more… Continue reading Rare Disease Day

Glasses Memories

One of my first memories is of sitting at the dining room table, next to one of my grandparents, peering through the edge of the large glasses he wore, amazed at how different the world looked.  I got my first pair of glasses at three years old.  As I grew older, my eyes got progressively… Continue reading Glasses Memories

When Good Plans Go Bad

It can be frustrating when you have ideas for your life that just don’t work out how you planned.  As part of academic advising, I had things all planned out, I knew what classes I was going to take when.  In spring of 2013, I would graduate with a Bachelor degree in Neuroscience.  Everything looked… Continue reading When Good Plans Go Bad