Rare Disease Day… living with a degenerative eye disease.

Today is Rare Disease Day.  Let’s share to increase awareness!

Not everyone that is suffering from a disease looks like there is something wrong.  Eye diseases are one of these.  I don’t share my story often because I think people really don’t understand because it doesn’t look like there is anything wrong with me.  I find that more of a “yeah yeah yeah, I have bad vision too because I wear glasses/contacts” kind of thing happens.  But in honor of Rare Disease Day I thought that I would share my story just a bit.  And I’ve also been posting a bit more about it on Facebook because of the Olympics (Olympic Bobsled gold medalist Steve Holcomb has the same eye disease as I do).

I have Keratoconus, a degenerative eye disease.  I think it’s questionable if it is actually in the rare category (though the actual numbers would put it there) because many people have it that are undiagnosed.  Which is why it is so important to share and increase awareness!!  Also go see an ophthalmologist or a therapeutic optometrist NOT a regular optometrist (they will only check your vision not your eye health!  This is why so many people don’t know that they have KC!!)

What is Keratoconus?  It is a condition in which the normally round dome-shaped cornea progressively thins causing a cone-like bulge to develop. This results in significant visual impairment.  It’s also degenerative, meaning it will continue to progress and deteriorate over time.  The cause is still unknown.  Genetic? Maybe…  Environmental? Maybe…

Everyone with Karatoconus is different.  Some will stabilize a bit after 10-20 years and some will go blind (like Steve Holcomb).  Some with Karatoconus (KC) have it in only one eye, some in both.  Mine is much much worse in my left eye than my right.  

I also see shadows and halos in both eyes and have double vision in my left.  It also makes my eyes extremely sensitive.  To everything.  I have terrible eye allergies and being out in bright sunlight makes me nauseous.

It makes all of the simple things like driving, watching TV and reading extremely difficult.

This is a pretty good example of how I see:

Night is very difficult because of the halos.  It’s exhausting to drive at night because I have to concentrate so hard on just being able to see the road.  Brake lights and headlights in traffic don’t help.  I have to squint very hard which helps a little with the halos, but it is even more exhausting.

Treatment…  there’s not much that can be done that is non-invasive.  They try to fit you for hard (RGP) lenses at first.  There are a few new soft lenses out there (sclerals and hybrids).  I’ve tried them all.  None of them work for me.  My eyes are completely intolerant to contact lenses.  There are also intacts (implanted prescription inserts).  A lot of people have success with intacts (there is no cure for KC but they can help with your vision distortion) but the procedure is very expensive and not covered by many insurances.  Then there’s the corneal graft (AKA the corneal transplant).  That was the only option besides RGP lenses when I was diagnosed…. scary huh?  There’s a new procedure that is seeing great results at halting the progression of KC, but it’s CRAZY expensive (corneal crosslinking- CXL) and not yet approved by the FDA.  Lots of clinical trials going on right now with CXL.   

As for me… Right now I wear glasses and do the best that I can.  There is a clinical trial that I would really love to get involved with but right now is not the time unfortunately with my internship.  I had two really good visits with my eye doctor and haven’t had to go to the cornea specialist in a couple of years because of that.  However, you can be stable for a long time and a stressful or traumatic event can trigger progression all of the sudden.  I have definitely felt some changes to my eyes in the last month.  My internship is stressful to the point that I have to tell myself daily that I don’t have time for a nervous breakdown right now and that I just need to go into survival mode and keep it together.  I will definitely need to go back into the cornea specialist soon to investigate. 

When I am having an extremely bad eye day I tend to feel sorry for myself and have been known to throw the occasional pity party.  But most of the time I’ve really just learned to live with it and make adjustments to compensate for my vision problems.

I feel hopeful with all of the research going on right now (and the disease being brought to light for the general public by Steve Holcomb) that an actual treatment (or dare I say CURE) will be accessible for the normal folks one day.

Well, that’s my story.  I didn’t mean to ramble about it, but since I don’t talk about it much I apparently had lots to say!