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.
Symptoms
  • 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.

One Reply to “Rare Disease Day – All About Stickler Syndrome”

  1. We have many people in our family with Sticklers and the vision has not gotten to the point of them not being able to function (my father-in-law is 75 and has it). He does have more hearing problems, but they are resolved with hearing aids. The joint pain has not gotten very bad either. I hope this helps so you don’t worry as much

Leave a Reply

Your email address will not be published. Required fields are marked *