SANTIAGO'S ANOPHTHALMIA: HOW WAS IT DISCOVERED?

February 16,2019

How did we learn about Santiago’s anophthalmia?

Hi everyone! Some are curious about how we found out about Santiago’s anophthalmia. It is a wild story, at least from our perspective. In fact, many are surprised to learn that we didn’t know prior to his birth. As some know, it has been a long road for us to grow our family. Over the last three years, we have undergone significant testing, including thorough genetic assessments. We have quite literally done everything scientifically available to figure out if genetics had anything to do with our fertility struggles. Everything presented as “normal.” At twelve weeks, we also did non-invasive prenatal testing (NPT). Given my age and other high-risk factors, we had multiple sonograms, including standard anatomy scans where they measure brain, head, look for abnormalities in bone structures, and so on. I actually had two of these scans: one at 20 weeks and another at 28 weeks. As it turns out, the actual eyeballs don’t show up on standard sonograms. Sometimes, you can get a glimpse of a cataract, but it is rare. Cesar and I contemplated going in for a 4-D scan, but I opted not to. It is possible that his eye condition would have been identified with a 4-D sono. Again, we had numerous ultrasounds, including some as early as seven weeks, and I thought it was overkill to do another just to get a cute picture of our little man. So, we didn’t.

After I gave birth to Santi, we had an opportunity to do skin-to-skin. His eyes were closed during this time, and I thought nothing of it. As the doctors worked on me post-delivery, I ran into some complications as explained in other posts. Therefore, Santiago was passed to Cesar for additional skin-to-skin time as I went into what I thought was going to be a short standard surgery. It wasn’t. I lost a significant amount of blood, was intubated, and landed in the ICU. But, I made it.

Cesar’s Discovery of Santiago’s Anophthalmia

Shortly after Santi was born, Cesar—when doing skin-to-skin—noticed that Santiago had not opened his eyes. He started to wonder, internally analyzing what could possibly be wrong. But, he was also distracted. I was in surgery; he hadn’t received report from the doctor, and he knew my situation was very serious. However, when the nurses came to do a quick evaluation on our little dude, Cesar half-jokingly said, “So, he hasn’t opened his eyes. Does he even have eyes?” This clearly flustered the nurse and subconsciously confirmed Cesar’s worries. She nervously responded, “The, uhhh, pediatrician, uhhhh, will evaluate uhhh, him...uhhh….” Hours later Dr. Hart, Santi’s original pediatrician, came to talk to Cesar. First and foremost, she verified that I had made it through surgery and was stable in the ICU. She utilized the sandwich method: bookended “bad news” with “good news.”  After confirming my status, she said, “I know you are worried about Santiago’s eyes. So am I…” Dr. Hart, unable to hold back tears, explained what she thought we were dealing with—some form of anophthalmia. She was quite surprised that Cesar was “so stoic” upon receiving the news. I don’t know what it is like to be a doctor in the position of breaking difficult news to parents. But, I also don’t know if most doctors know what it is like to be a parent receiving such news. (I’ll get back to this later in the post…). Cesar had been so worried that he would be faced with the worst-case scenario: Child is blind with other significant health issues involving primary organs (brain, heart, lungs, kidneys, etc.) and wife doesn’t live through childbirth. He spent the entire night, praying for what he thought was the best-case scenario: Child is blind, but okay in every other way and wife will be awake to share the news shortly. We received the best-case scenario.

Breaking the News to Leslie

After I wake up in the ICU, my husband and sister sit at the foot of my bed, delivering some of the most shocking news I think I will ever hear in my life. It is a simple statement.

“Santiago is fine, but his eyes did not develop.”

Wait what? What? Wait. No, no, no... What?

“We don’t have a lot of information now, but they appear to be fused shut…”

“Is he blind?”

“He looks healthy otherwise. But, yes, Santiago is blind.”

I can’t help myself. I sob, audibly trying to catch my breath—a response I have spent countless hours scrutinizing. I have always wanted to be the parent of unconditional acceptance. God and genetics gave us this precious boy who happens to be sightless, and my first response is low-grade devastation coupled with ample self-pity. He can and will still have a very full life. Cesar could have just as easily announced that our child has blond hair, another unlikely possibility. Now, a little more removed from the immediate shock of the “oh, by the way, our kid has no eyes” news, it is hard to imagine Santiago any other way. He is exactly who he is supposed to be. Don’t get me wrong. I don’t think my response was unreasonable or abnormal. Nearly every person we have told has had the same reaction. But, this response—shrouded with feelings of sadness and fear coupled with a dash of anger—is one from the limited perspective of a sighted person. I will never be able to grasp what it is like to be a four-sense creature. I am mostly a one-sense being with four other highly-degraded senses. Hang with me. Sighted people take in the majority of their information visually, and consequently, we are not required to leverage our other senses for the most part. Santiago will truly be a four-sense being. He doesn’t have another choice. He will experience this world via touch, sound, taste and smell. He will dream in these senses, think in these senses, live in these senses.

But, my response of disappointment, from what I am told, does not last long. I quickly shift into a deposition mode. “But he seems to be fine otherwise? How do we know? What exactly did they say? When are the next tests? Wait… he is in the NICU? Why? What is wrong? When do I get to see him?” I don’t wait for an answer before I ask the next question. Jill and Cesar provide feedback to my questions as best as they can with the limited information they have. The surgery, waking up, the news, feels like a blackout—an out of body experience where bits and pieces are still coming together. Cesar holds it together; Jill cries with me.

Now that we know...

Ultimately, Jill leaves Cesar and me to process together. We cry. We laugh. We cry. I am utterly amazed at Cesar’s strength, and I know I need to show him the same. All I want to do is see my little man, but he is not allowed on the ICU floor. Eventually I am moved to post-partum recovery and make my first visit the NICU. The tears come and go, and we begin to put one foot in front of the other to gather the information we need, ruling out possible complications after more possible complications. MRIs are scheduled; scopes and scans are conducted. As we continue to receive “good news” in the days that follow his birth, my shoulders feel lighter with each report. When a neonatologist delivers his MRI results on his brain, I sob out of utter joy. The doctor is confused by my response because he has just confirmed that our child is indeed blind and has no optic nerves. At this point, I don’t care about his silly eyes that he just decided not to bother creating. I care about his brain.

Next, I start to obsess about his hearing. Is that okay? When will we know? I ask every doctor that makes rounds about it, and they assure me that there is not cause for concern. Finally, I can’t take it. I beg them to do the newborn hearing screen, which they normally do just before discharge. But, God only knows when we will actually get out of here. I can’t wait a month before they check his ears. More weight is lifted when they tell me Santiago’s hearing is fine. Now I need something new to obsess about. How will I know if he can taste? I think I am preoccupied with his other senses because I know just how important they are. But, it also registers that everything about his physical and cognitive development feels overly important, and I need to step back and just let him be a baby. My proclivity to live in the tomorrow is astounding. We are not learning to read braille tomorrow. We are not crawling today. We need to chill the hell out. I need to just be in today, feeding and changing him PRN.

Some have asked if we wish we could have known about Santiago’s anophthalmia ahead of time. While finding out about his condition when he was in utero would have given us time to process the news, I think it would have caused me to unnecessarily worry for months. Finding out that he is blind after his birth forced us to surrender and accept his condition quickly and without choice. It happened just as it needed to, including the physical trauma I experienced after delivering him. Near death experiences do this: they put life in perspective. Today, we are just happy to be home, figuring it out like every new parent has to do.