Oli's genetic library.

In the summer of 2009 I got another phone call that I won't forget. I remember exactly where I was sitting, what I was thinking and what I did after I hung up the phone.  It's just like when people remember where they were when a certain big event happened. JFK's death...I'm not that old.  How about...Kurt Cobain's death and when I heard that they declared OJ Simpson innocent of murder. I remember exactly where I was when I got the call telling me of Oli's genetic diagnosis.

We had some genetic testing done for Oli a few months earlier to see if she had a particular gene deletion. There are a couple of different genes responsible for eye development in a fetus.  So it would make sense that one of these genes might be missing and caused her lack of eye development.  She also had other things going on so it was more likely that it was a gene problem and not just a random occurance. Which, sometimes, it is.

These tests can be extremely expensive and if you don't know what you're looking for, you end up wasting thousands and thousands of dollars testing a multitude of different genes. You can't just go into a lab and say "My baby was born without eyes, draw her blood and figure out the problem."  Number one, they will look at you like you have lost your mind. Number two, regular labs don't run these kinds of tests. It has to be a specific lab and usually they are doing these tests to further their research.

We got lucky that the Albert Einstein Medical Center had some money and was willing to test Oli for 3 different gene deletions. (I think it was 3, but I only remember the names of 2.) SOX2 is the most common deletion in microphthalmic and anophthalmic children.  This is the one they tested first. OTX2 is another one that is less common, but also causes micro and ano. Oli is missing OTX2.

(Kekoa is watching me type this and wants me to add "Oli is wonderful". OLI IS WONDERFUL!!  Kekoa you are just too sweet.)

Before I tell you about that phone conversation I want to explain one quick little thing so it makes sense. Oli has all 46 of her chromosomes. They are all present and accounted for. Imagine that the chromosomes are bookshelves. The GENES are the BOOKS on those chromosomal bookshelves. Oli has all of her bookshelves. Oli is missing some of the books off of her bookshelves. Notice I put "some books"?  Yes. Multiple books. Not just the one titled OTX2.  She is actually missing around 20 books off of her shelves.  Bookshelf number 14 to be exact.  Some book thief came during the peak of her fetal development and stole 20 books off of her bookshelf number 14. Bastard!!

Actually...that's not how it happened. Those genes were already missing off of the ONE egg or that ONE sperm when she was conceived. What are the odds?  About 5% according to her geneticist.  We don't know who it came from. The sperm or the egg?  I'll blame the sperm. The female egg is the epitome of perfection. Those sperm have been the cause of a whole host of problems throughout the history of evolution.  War, famine, and STD's. How about the invention of golf, ESPN or the Harlem Shake. Can I blame those on the male species?

Most of these books that she is missing have unknown functions. Like book number 63 might be responsible for something, but we just don't know what?  Maybe it did something a long time ago during the evolution of humans and we just don't need it anymore. But... there is sits on the shelf, acquiring dust with a random title like "Fins" or "Hairy backs". (Some people are still reading this particular book.)  Or maybe book number 13 does something like provide the normal pace for hair growth. Which would explain Oli's VERY slow growing hair. I have only barely trimmed it. Once. 4 months ago. I'm not sure if this is why her hair grows slowly, but I'm guessing it has something to do with it.

Sooooooo...that's the deal with Oli's library.  Pretty interesting, huh? 

Next I'll tell you the story about the phone call.