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.

Fusion and sailboats.

Yesterday at the grand ol' "Baylo Clinic" the Pops (Father in Love) and I wheeled up to meet the new orthopedic. I think he's number 6 or 7, I've lost count. Good news is he is going to be the guy for me to round out the DOCTOR TEAM to treat my connective tissue issues.
You need a Rheumatologist (freaky, deaky weird stuff docs)- Dr. Bhanusali LOVE HER. I love her! Did I mention that I love her?.
You need an Orthopedic Surgeon, for when you need a joint replacement/hip replacement and I will he says in the not too distant future (I'm thinking at around 40 or so)- Dr. Harrington he says he uses "power tools in surgery!", and you need a A Primary Care Doc (you know for your booger control, i.e. sinuses)- Dr. Chen.
You need an Opthmalogic Team: Dr. Lewis, Dr. Hammil, Dr. Yeu, etc. Baylor Eye Clinic. The best.
So PRAISE the Lord I got them locked down. So the DOCTOR TEAM is complete! I know they are all simultaneously high fiving each other as I speak. GO DOCTOR TEAM!

Oh and did I mention that I'm in HORRENDOUS PAIN!!!!!!!!!!!!!!!!!!!!!!! If you have ever read any of my posts you know I'm hip on the whole Phil. 2:14 "Do everything without grumbling or arguing." Or at least I try. But the pain is now getting all Chuck Norris on my body. The worst is at night. I have retreated back to using Tylenol PM and muscle relaxers.

So I had hip xrays done at the orthopedic's. They were nasty. I screamed and cried and screamed again. My poor Pop had to hold me in position and cheer me on. Thank you Pop. Love ya. And guess what, THEY SHOWED SOMETHIN'!! What, a result? Me? They showed the bones are fusing. Fusion. As in, my bones are growing together. What the whaty what what?!? That's not appropriate! My Sacrum (sp?) is fused to my iliac (sp?) spine bone fused to pelvis bone- and let's not forget there's a crazy "nerve nexus" up in there getting all bent out of shape. It's happening on the right side.

Possible diagnosis: Anklyosing Spondylitis (when your back bones start a fusin' to your pelvis bones!) So I got a cute little handout with good looking people water-skiing and sailing, called, "ANKLYOSING SPONDYLITIS: AN OVERVIEW". Awesome! Why is it that people with crazy diseases are the only ones that are extremely active in life? Where's my sailboat?

Today I had a lower back MRI w/contrast- i.e. let's juice you up in an IV while you're in a tube time. It was fun. Monday I had the hips re-MRI'ed since the results are so confusing.

No results yet. I'm good guys, really. It's like that lame dude those people sent through the roof down to Jesus to be healed. He healed him spiritually first! Spiritually healed. Physical healing is a bonus. Meanwhile, I'm back to being besties with my wheelchair and contemplating decorating her in some fashion. She needs a horn for real.

OOOOoooooh weeeee

WHAT UP WITH ME?
Yesterday the Johnster and I rolled it on up to the Baylor Clinic. We noticed so many similarities to Mayo Clinic in regards to the decor, the e-chart, the doctors wearing all fancy clothes, etc. I would like to change it to "Baylo Clinic". Now, I have quite the file at Baylo Clinic, thanks to my whacked out zonules in my eyeballs. So I have an "in" there. Why I haven't just been seeing all the doctors in that system, I'll never know. But I have now seen basically the entire Baylor Eye Clinic, the Parkinsons Disease and Movement Disorders Clinic and now, Rheumatology! The Rheumatology clinic is my new favorite place to be in the medical center in Houston. Dr. Bhanusali gets 2 lax finger joints waaaay back (= good rating) from me!!! LOVE her.
She's super smart and informal- a GREAT combo!
Here's how it went down:
Me: "I'm a mom of a 4 year old who basically can't walk and do what I need to do for over half a year. I've been having pain since Oct. 2009!! I can't eat cheese anymore! I've had 9 eye surgeries!!!!! WAAAAAHHHHH!"
Dr. B: "That just sucks."---NO KIDDING SHE SAID THAT VERBATIM!!!
I liked her immediately.
She has several theories. She is the first doc to actually have valid theories- meaning I've ended up in the right place which she verbally confirmed by saying, "Rheumatologists deal with the weird diseases. And you are even weird for us. BUt we cannot leave you like this!"
Theory of the first:
1). My hip wants to dislocate due to the connective tissue disease (still not named) but can't, so it just gets crazy inflamed- yowza pain!- thus causing muscle spasms, ergo affecting nerves in surrounding areas. The hip dislocated back in '94 during drill team tryouts when I did the splits and then I got up and kicked my own face. One of my favorite stories to share.
2). I might still have Ehlers Danlos - a type of connective tissue disease that has many types. I have to go get a different gene tested in HOUSTON to figure it out. This will probably take months, but she still wants this done. This disease affects the joints and whatnot. She isn't happy with my connective tissue disorder being: "not otherwise specified"
3). I might have a form of Lupus due to my ANA bloodwork being positive. This doesn't mean I have the systemic Lupus you hear about, no but more of the weirder forms (duh) that mess up connective tissue. She ran more bloodwork yesterday to get that looked at.
4). I get a catscan of the hip next week - Wed. Just throwing that in, not really theorizing there.
5). I'm actually a real "weirdo" a la Gonzo in the Muppets.

Needless to say, Dr. B is on the case!!! I'm so thankful that I was referred to her by Dr. Shahed (neuro genius). Oh and I got a whole new medicine regimen to in the meantime treat the symptoms which by the way, is all you can do with any of those above theories. Manage it. Who cares! I'll take managing over living in pain all day any day, right!? I was overjoyed with how well the appt went yesterday. Plus, I got a Reeses buttercup, could you ask for more? Well, you could, but lunch was too far off.

So I go back to Dr. B in 3 weeks after the medicine regimen has been in action. I have a feeling with the right mix of anti-inflam and muscle relaxers I could be a pain-free walker here real soon!!! Praise the Lord from whom all blessings flow!