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 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 heard of this condition.
  • The disorder is progressive and joint pain, vision loss, and hearing loss will progressively get worse as I get older.
  • I was diagnosed after genetic testing in the year 2012, but I had symptoms before I was born.
  • The first noticeable symptom was my deteriorating vision.  I was prescribed my first pair of glasses when I was 2 years old.
  • When I go to the eye doctor, I cannot see the large E that takes up the whole screen without my contacts.
  • I’m not considered legally blind because my corrective lenses can get my vision close enough to normal.  This could change any time as I am at very high risk of macular degeneration, retinal detachment, or glaucoma.
  • It is ironic because Type III of Stickler’s Syndrome is known as “non-ocular type” but I have extreme ocular (eye) involvement.
  • I have been diagnosed with mild sensorineural hearing loss, which will progressively get worse.  At this time, I don’t need hearing aids, but may need them in the future.
  • I’ve had painful joints for most of my life, when I was younger, I didn’t really know it because I’d never experienced my joints pain free.  I tended to say that I was “tired” when I really meant I was in pain.
  • Which joint is most painful varies from day to day.  I wear various braces and patches to help with pain and correct hypermobility.
Life with a Rare Disease
  • People would be surprised to know how much this diagnosis scares me.
  • The hardest thing to accept about my new reality has been the progressive nature of this disease, and the constant threat that it will be worse.
  • Most people assume that because I look normal, I’m normal.  They can’t see the pain, the hearing loss, or the vision problems, so surely it can’t be that bad.
  • Something I really miss doing since I was diagnosed is looking at something without thinking about whether I’ll ever see it the same again and wondering if I can do certain things I love if I lose my vision or hearing.
  • It amazes me how much of a difference in my life one tiny mistake in my DNA can make.
  • If I could have one day of feeling normal again I would ride horses all day and enjoy that it doesn’t cause any pain.
  • My illness has taught me to value every day – every sound, sight, and low pain day.
  • I love it when people take time to get to know me – all of me, the illness, the good, the bad, and more.
  • My favorite scripture that gets me through tough times is: “‘For I know the plans I have for you,’ declares the Lord, ‘plans to prosper you and not to harm you, plans to give you hope and a future.'” Jeremiah 29:11
  • When someone is diagnosed I’d like to tell them that this diagnosis isn’t the end of the world. Most people get this diagnosis when their child is young and it can be scary, but I love my life and can live with Stickler’s and love life too.

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 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.

Glasses Memories

Trying on an old pair of my grandpa’s glasses

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 which is known for causing very high myopia from a young age.  It also causes progressive hearing loss, but fortunately, I only have mild hearing loss at certain frequencies.  One other thing it causes is hypermobility, joint pain, and early onset arthritis.  It can also cause a cleft palate or cleft lip, but I don’t have either of those.

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 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.  After talking with my professors, I had everything planned out how I was going to make up work and catch up this past week.  Everything again looked great on paper.

Unfortunately, life doesn’t always go quite so smoothly as it looks on paper.  A bit of bad timing of a stomach flu knocked me out this entire past week, destroying my plans for make-up work.  As a result, I now have to make-up the missed make-up work as well as the regular work from last week.  This combined with everything else was causing more stress and anxiety regarding trying to catch up and keep my grades up.  Unfortunately, stress causes more pain and a vicious cycle begins.

Last week, I was determined to stick it out throughout the semester, regardless of the circumstances.  Careful consideration and prayers brought me to the point that I was able to decide that it was time for me to take a medical leave of absence from college and go home in an attempt to break the cycle.

Someone mentioned to me that if they were in my situation, they would be asking God why He had “ruined” everything.  But the thing is, I have discovered that this does nothing.  There is nothing wrong with asking why and I certainly do my share of it, but at this point in my life, I’ve learned that trusting Him is easier than asking “why?!”

Looking back, the times I asked God why make more sense now than they did in the circumstance.  I suspect that the same will be true of this situation.  In the meantime, I’ve been making a list of things I can look forward to now.  This list includes getting a rabbit, spending some time in a friend’s horse barn, hanging out with friends, and doing some graphic design work.  I find that looking at the positive helps put the negative in a better light.