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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 it’s own diagnostic code, it is billed under the same code as many other rare genetic disorders or billed by symptom (sensorineural hearing loss, joint pain, etc.). Aside from the geneticist who diagnosed me and the genetic ophthalmologist who saw me at Cleveland Clinic, I have never met a doctor who has heardRead More →

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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 open about it, and I’m looking forward to Rare Genetic Disease Day celebrated on February 28 this year (traditionally February 29). Throughout the rest of the month, expect to see more information in posts and on my blog.Read More →

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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 worse, though I am fortunate enough that my vision is normal with contacts. Though technically referred to as “High Degenerative Infantile Myopia,” it is more commonly referred to as nearsightedness.  It turns out, I don’t just have bad eyesight, but I have a genetic condition known as Stickler Syndrome whichRead More →

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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 so nice and neat on paper. The past few weeks have been a real struggle.  Between going to Cleveland Clinic to evaluate a possible genetic condition, the development of a seemingly invincible urinary tract infection, and some other health issues, class has taken a back seat to my health.  AfterRead More →