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.

Source:http://jurassicpark.wikia.com/wiki/Mr._DNA




"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.

Psurgery Psyche!

Went on down to Baylor Eye Clinic for my 9:00 appt with the husby who just loves to drive Miss Crazy around the town, and saw Dr. #1. Dr. #1 proceeded to really be concerned with my shakylaky vision in my left eye, so much so that she didn't want to dilate them (I have crazy tiny pupils so they can't really see all up in there without dilation) because she was afraid the lens would further drop. She feels that Super 8 (Left Eye) might need surgery. I mean I dropped 2 lines of vision since August.

So she worked us in to see my surgeon to see what his opinion was/is.

The husby and I were prepared for this like Doomsday Preppers prepared, and we had our Kindle Fire and John left and got lunch (Chipotle- when will I learn to stop getting the chicken there. Stop it Gillian!) so when I did get in and see him at 1:20, it wasn't like a wait at all. In fact, I got so comfortable there that I considered taking my shoes off.

 Have I mentioned I have stinkless feet? It's truth. And it's amazing in the real sense of the word "amazing." If I ever ran a marathon- wait, I need to stop and insanely cackle right now- okay, I'm back, sigh, but if I ever did- wait, hahahahahfhfahfahsdfhfhahahahahahh!!!!- would my feet smell?

I guess we will never know.

Dude, I can't run long distances! What part of googly eyes don't you understand!!!!!!!!!!!!!!! I'm not gonna run an eyeball out and make this crap elective!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

 Where was I?

Oh yeah, so we were holed or is it wholed? up in BEC. I get called in my Dr. #2, this time a "Fellow."

Can a doctor type person explain that to me please? What a Fellow is?

The Fellow gets all kinds of confused, but in an intelligent way. He almost seemed to rebuke me. I give in and begin the Eye Timeline to fill him in. I could say, "Fellow, look at the vast scrolls- I mean chart." But I don't. He digests it. Then takes a look. Proceeds to talk about surgery options that Dr. Hammy will possibly consider. I know full well that no, he probably won't.

We get in to see Dr. Hammy, who I haven't seen since January- Praise Jesus!- and he takes a good look.

We are now friends, he and I and the husby. And I will forever be his patient patient.

He says no go for surgery. So I ask my usual questions:

"But when will it drop out?" (The Lens).
Dr. H: "You could be hit by a meteor. Or the Earth could swallow you up."
Me: "But I mean, is it close and what will you do then?"
Dr. H: "Stay away from you or get a shovel."
(For his sarcasm alone, I'm going to remain a patient you see.)
He continues: "It could slip in 3 weeks, then we go in and take care of it."
Me; "Is there something I can..."
Dr. H: "There is nothing you can or shouldn't do to help with it. Have a Merry Christmas!"

We prayed and so many others did. This was God's answer and His timing and we have to trust that it's not the right time.

So I adjust with the shakiness and decreased vision. This is where the mental kicks in. The patient patient I need to be that I pray I can be and I increase the zoom to 200% on everything. I start the winding down earlier and go out less.

Kind of like when I was in Kindergarten and I NEVER wanted to nap. So much that I led Nap Revolts amongst the class.

God is the Teacher who is saying, "Now, Gillian you know you need to rest."

Thank you Lord for my jello vision. Please help me to rest in You.

Thanks for your prayers beloveds. 

Faith of a First Grader

On the way to dropping me off at an event I had to photograph, Leelah tells John and I that one of her classmates said to her:
"I know you are a Christian."
Leelah agreed.
This little boy comes from a family that is Jewish. Which if you truly know a Christian, we adore Jewish people. We pray for them. We support them. It hurts our hearts that they are so very persecuted. And it hurts our hearts that they do not believe that Jesus is the Messiah.

So the conversation continues between Leelah and her friend.
He says, "We do not believe in Jesus because we are Jewish."
Leelah, "I know that." We had lightly touched on this at our home, still telling her all the while- show him LOVE. Which we pray she is doing.

He goes on to say, "Jesus is a liar. He tells lies. He is not the Son of God."
Whoa.
Re-read the subject: First Grade.
 Look, I thought that Leelah's diagramming sentences and learning prepositional phrases was beyond first grade, let alone theology debates!

"That's not true." Leelah says, "Jesus is the King of the Jews and the Son of God." 

I asked her how it ended and John said something to the effect of, "How every convo a kid has they see a bird and run off or something."

Leelah kind of dropped it, but John and I explained that Jesus is a Jew and that He is the Son of God. They do not believe what we believe, Jewish people believe in a different book called the Torah.

If you are Jewish and are reading this, I love you. Seriously. Everything about you pulls at my heart. Please know I'm not sending my child to school to convert everyone she sees. My child is starting to recess preach, and I just pray that she speaks the truth in love. We don't hate anybody. She is bold and honestly, it scares me sometimes. I'm all like I LOVE PIZZA and she's all telling kids about Christ and, "It's okay if you don't believe, I still love you anyway!"

We further explained that Jewish people wanted God's Son to be a KING. Or as Cee-Lo would say, "A KANG!!!" With all the riches and glory and whatever else. I'm sure I'm insulting folks now.

But Jesus came in on a donkey. He is humility. His riches are far more than that of wealth we could conjure here on earth. He fulfilled all the prophecies.

 We explained to her that people are not going to believe in the Bible, but we stand on it ALWAYS AS TRUTH. Always.

And that story right there is just one of the reasons I go to Moms in Prayer International, formerly Moms in Touch each week!!!