Tag Archives: eyes

Oli’s Genetic Library

12 Mar

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 thousands of years 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.

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Real, Fake Eyes

19 Feb

“Never forget that anticipation is an important part of life. Work’s important, family’s important, but without excitement, you have nothing. You’re cheating yourself if you refuse to enjoy what’s coming.” ― Nicholas Sparks, Three Weeks With My Brother

A few days before Oli’s first birthday I woke up after only sleeping a few hours. The big day was finally here. The biggest day! She was getting her first pair of painted prosthetic eyes!

I could hardly contain my excitement. I couldn’t even imagine what she would look like. All of those feelings returned from when I was pregnant and would lie awake at night trying to picture her.

Before she was born I imagined her with big brown puppy dog eyes, long full lashes, and a sparkle that would melt everyone’s heart. Now I was imagining the same thing minus the long lashes and the sparkle. Little did I know how fantastically real, ocularist’s can make fake eyes. That sparkle was there, just painted on.

I rushed everyone through breakfast and we all piled in the car for the trip to L.A.

The drive seemed to take forever. Seth and I passed the time talking about what we each thought she would look like and what color we were going to choose.

“Brown. Or maybe blue. Kekoa has blue eyes. Or green like yours?” I couldn’t make up my mind.

“Blue. Kekoa and Thalia both have blue eyes and her little left eye looks like it is blue.” Seth makes the final decision.

“Blue it is.” I honestly really could have cared less by this point. All of those dreams of big brown eyes were receding from my mind and by the time she was 1 year old I just wanted her to have any kind of eyes. They could have been purple, red, or painted like cat eyes and I would have been absolutely thrilled.

Months and months of staring at blank eyes had made me realize how much I wanted to look at a pair of real looking ones. Although we had shed the ghastly pegs months ago, I was now anxious for the conformers to be painted.

I knew that I would love them, but I had no idea how much the prosthetics would change her whole face and appearance…

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Oli before she got her painted prosthetics.

Where do you look when someone doesn’t have eyes?

8 Feb

“what you need and what you want aren’t the same things,”

― Cherise Sinclair, The Dom’s Dungeon

Three weeks after we took Oli to LA to get her first pair of conformers we took her back to get her second pair. She was very fortunate because her right eye (the empty socket) actually stretched a considerable amount. The ocularist was able to fit her with a conformer twice the size of the first one. Sometimes conformer therapy just doesn’t work and kids are never able to wear them.

“So. . .Mr. Haddad, when are you going to lose the awful pegs and put flat painted conformers in? Next month? A couple of months at most, right?” I am incredibly impatient.

“No. It will actually be 2-3 more months before I can put a flat conformer in that right eye. It’s just too small. I wouldn’t be able to get it in or out of her eye without that peg. And she will probably be close to her first birthday before we put painted ones in that look like real eyes.” He explains quietly.

“Oh. That long huh? I guess that’s okay.” I almost start crying.

I was screaming inside my head,

No. No. No! That’s is absolutely not okay. I want to look into her eyes! Fake or not. I should be able to look into her eyes!

Where do you look when you are speaking to someone if you can’t look into their eyes?

To me, eye contact was very important. It showed people that I was paying attention, interested in what they were saying, and respectful. I could gauge their feelings and reactions to what I was saying when I looked into their eyes.

I had to learn with Oli that I could still do all of these things with her, in a different way.

I learned the delicate map of her facial expressions. The raise of her eyebrows and the little bit of furrow between them when she was listening. Her toothless smile, scrunched up nose and the turn of her head when she was happy.

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Her tightly pursed lips turned down at the corners when she was sad.

I learned to look at her whole face and body language to gauge her reactions and feelings. I learned to read her without making eye contact, but with the complete confidence that I knew her emotions.

I learned that I really didn’t need to see her eyes to make a connection with her.

I learned all of this. . .but it never changed the fact that I wanted her to have eyes. Real eyes, fake eyes, glass eyes, plastic eyes. I didn’t care. I wanted her to have them.

It was blue.

27 Jan

“There is no better way to thank God for your sight than by giving a helping hand to someone in the dark.” -Helen Keller

The first night at home with Oli I did what I always do with my babies. I gave her a bath. She was so tiny and sweet. I washed her little arms and legs. Her little round head covered with blond fuzz that I was so excited about. Kekoa had been born without a single hair on his head. I washed her petite nose and her small eyes that still had not opened.

I just wanted her to open her eyes.

When they did the CT at the hospital the doctors told me that both of her eyes were extremely small. The left measured only in the 10th percentile of normal. The right was half the size of the left. We would later see that her right eye was really just an empty socket. What they saw on the CT was only a bit of underdeveloped tissue located behind her socket.

I knew that her left eye probably wouldn’t look like a normal eye but, I still needed to see it.

A mother needs to inspect every single part of her new baby.

I felt like I was being cheated out of that right as her mother.

No matter what it looked like, I needed to see it.

After her bath that night I tried to fill out the information in her baby book. A pink baby book. A book that I had spent a lot of time searching for. It had to be the perfect book because when I bought it at 8 months pregnant, I knew my daughter would love to read through it someday. Just like I still like to look through my baby book.

I started filling out the questions.

What time was she born?
How much did she weigh?
How long was she?

Then I got to a question that made my heart drop.

What color were her eyes?

My eyes filled with tears.

I don’t know.
I don’t know what color her eyes are.
Why can’t she just open her eyes?
Why can’t I do something to help her?

I still hate that book. I haven’t look at it in years. I hate it because I remember sitting in my brown rocking chair by the window. I remember reading that question and feeling incredibly small and useless.

I hate that book for making me feel like I was useless to my daughter.

She finally opened her left eye 2 days later.

It didn’t look normal. It was small and underdeveloped. It had a tiny blue iris that danced around in her head.

I knew that she couldn’t see me with it. When she opened her eye I knew that my daughter would never see me.

But, to me, it was beautiful.

I was finally going to be able to write down in her baby book what color her eyes were.

It was blue.

Something is wrong

22 Jan

Right after Oli was born the neonatologist I worked with, that had attended her delivery upon my request, took her over to the warmer to check her out. At 35 weeks there is always a small chance that the baby’s lungs will not be fully developed. Oli’s lungs seemed perfectly fine. She was lying on the warmer, pink and screaming away. The doctor looked her over carefully.

“She looks perfect. Good job Shannon. Let me know if you need anything else.” He smiles at me quickly before washing his hands and leaving the room.

After he was gone the nurse placed her on my chest. I really didn’t notice anything unusual about how she looked at first. After about 10 minutes I did think that it was strange that she wouldn’t open her eyes. My son had opened his eyes right away after he was born. Oli seemed to have hers tightly squeezed shut. I quickly ignored the small nagging feeling in my chest. The feeling that had all of a sudden returned. Sneaking its way through my heart.

Something is wrong with her.

After about a half an hour the nurse took her back to the nursery to clean her up, give her her vaccines and put medication in her eyes. These are things that the hospital does with all newborns. Seth went with the nurse to watch over our new daughter. A little while later he came back and told me that she was a little bit cold so they had placed her under a warmer to get her temperature up. Then he said something that made that nagging feeling grow a little bit stronger.

“The nurse couldn’t get her eyes open to put the eye drops in. She said that she is concerned that her eyes may still be fused shut.” He is looking at me with a significant amount of fear in his eyes.

“What? That doesn’t make any sense Seth. Baby’s eyes stop being fused after about 24-25 weeks. She’s 35weeks! No. They’re not fused shut. They’re just swollen. I’m sure they will be fine in the morning.”

“Well, maybe. But the nurse is going to call her pediatrician right away in the morning to come and look at her. I’m sure you’re right. They’re probably just swollen.” He looks slightly more relieved relying on my medical knowledge of newborns.

Deep down I knew that something was not right with her eyes. I knew that she should have opened them or at the very least the nurse should have been able to open them. I had to ignore those feelings though. I had to make myself believe that she was fine. I went to sleep early that morning after the nurses brought Oli back to the room. But before I did I sent a little prayer to heaven. The first of many prayers for my sweet girl that went unanswered.

Please open your eyes baby girl. Please open them and look at me.

Her eyes were closed

21 Jan

Life is what happens to you while you’re busy making other plans.” – John Lennon

 

 

Oliana entered this world on May 10, 2007 with her eyes closed.  I never got to look into my baby girls eyes and form that instant bond with a ‘Hey! I know you! You’re the one I’ve been loving since the day I peed on that stick!’ 

Her eyes were closed because they were fused shut. They had not developed.  Severe bilateral microphthalmia.  That’s what it says on all of her paperwork.  It probably should have been etched on her forehead for all the times we referred to her as having “it”.  This had become who she was to me and to people around her.  My baby with severe bilateral microphthalmia.  Somehow these 3 words would become as familiar rolling off my tongue as her first name.  Which is very very wrong.  But that’s what it was.  She had become not my new baby girl.  But my baby girl born blind.  Born with severe bilateral microphthalmia.  She had no eyes.  These words were repeated over and over in my head during the next few months.

 

The moment the doctor said blindness, the little blond haired, brown eyed girl I had been dreaming about for 9 months died.  She died and I didn’t know that I was allowed to grieve for her.  I thought I had to become this perfect mother of a special needs child.  I could not allow the outside world to know that I was hurting so terribly inside.  In place of the little girl I had lost was this tiny baby with blond peach fuzz on her head and no eyes.  A baby I didn’t think I was capable of taking care of, nor did I know if I wanted.  I knew I could never abandon her.- (gasp) What would the neighbors think?-  But I didn’t know if I would be able to love her like I loved my son.  Because she was different.  If she didn’t have eyes what else was wrong with her?  Was her little brain a mess too?  What if she never walked or talked or could eat on her own? What if she never went to college or got married.  Even more horrifying, what if I had to take care of her for the rest of my life?  No. They got it wrong.  It has to be wrong!  I never signed up for this.  I ordered the little cute blond girl with pigtails in her hair and brown eyes to match mine.  I remember the day I got married.  I signed a bunch of documents including a marriage certificate, a give-up-your-last-name-and-assume-your-husbands-identity- page, and I definitely signed the one where you check the box under, you will have a happy life with rainbows and butterflies raising 2.5 HEALTHY children.  Not a disability.  I DEFINITELY did NOT check that box!! They delivered the wrong baby girl.

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