Thursday, March 21, 2013

The Official Diagnosis...

It only took 32 years of waiting for me to be diagnosed with:
Autosomal Recessive Ectopia Lentis et Pupillae! 

That's what the geneticists call it, but I will always call it:
Googly Eye Disease!

Let's face it, I'm special and I now have a crazy random label to slime people with. Yeah, I said slime. I miss you Double Dare and You Can't Do That on Television!

You are all so jealous. Don't even try to hide it. You want these jello jiggly eyes and disconnected connective tissue so bad!!!!

So here's the lowdown.

John and I went to the geneticist again to hear about what the amazingly brilliant and most likely glasses-clad geniuses in Oregon found in my one vial of blood.


"DNA's in your blood!" (Jurassic Park reference)

This time they tested the AdamTSL4 gene and for this appointment we got to hear the results. Here's the post about the last appointment where I boggle their mind with questions...
The testing -which by the way this particular gene was discovered DISCOVERED only 2 years ago- showed that I had a mutation (small deletion) in the coding of it and therefore has caused my proteins that deal mainly with the zonules (those guys that hold your ocular lenses in place) to be all jank.

Some where along the genetics line, things got messed up. And I love the part where sweet Tracy said, "Your body just had to do the best it could." She is so sweet!

And it did, I mean I didn't go blind in my left eye until college! Then the right was like 9 years after that! Amazing. Thank you Lord. 

Hearing her say "tested positive" sounded strangely good. I've never heard those words before. It was kinda like finding the end of the rainbow for me. So many years. 

It looks like it may affect the rest of my joints/connective tissue as well. But of all the people tested, I think it's under 20?, I'm the only one showing those results so far. And yes, my hip still hurts every now and then and now my joints are very "worn out feeling" when I sit and change positions.

BUT THANK GOD I CAN STILL WALK!!!! 2010 really sucked.

So what does this mean?
1. Leelah is a carrier, bless her heart.
2. She may or may not be affected. She's got a 25% chance. Which reminds me, I need to make her another eye appt! But she looks like she is doing absolutely fine. By her age, I had cataracts and my nose was against the TV to see.
3. Leelah will pass it on to her children and they might be affected depending on the future hubby/daddy. So pick him good God!!!
4. I learned things.
5. My cardiovascular system, a common concern with ELEP peeps, is ruled out to be unaffected at this point.

And we have a fancy name to this way that God made me.

Eye update: Well you know Left Eye is always dancing to 'Wobble' like it's at a wedding reception. Right eye, Champion, is doing great.
To those peeps that tell me they are still praying for my eyes, I love you. Thanks so much for that. You are part of my miracle!

And I have new glasses with better lenses!

I do apologize for my Ice-Truckers hair do.

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