When Birth Defects Hit Home
My son Pat was born with anophthalmia/microphthalmia, which is a rare SOX2 genetic mutation.
Pat just turned 31 a few weeks ago, and as usual, his birthday triggered memories of his birth, which was also the day we found out about his condition.
But the other thought that came to mind this year was that this happened 31 years ago—and there is still no "cure" or way to prevent this from happening. In fact, this condition is apparently on the rise. How quickly those 31 years went by! And why is it now on the increase?
Patrick was our second child, and although it was a very long pregnancy (I was three and a half weeks overdue) it was a fairly benign pregnancy. The only thing I could say was that I was sicker with him than I had been with my first or subsequently with my third. I did contract a virus of some kind in my first trimester; I had a high fever and was pretty sick, but nothing really out of the ordinary stood out, or so I thought.
Labor and Delivery
When I finally did go into labor, after thinking I was going to be pregnant for the rest of my life, it was a remarkably short affair. I think I was in the hospital all of 45 minutes and pushing.
Something happened to me at the delivery though and there was some concern about me hemorrhaging. In retrospect, I think that's why things happened as they did. The doctor delivered Patrick, we all saw him; they even put drops in his eyes. I did not hold him because they were still working on me but no one noticed anything amiss. He was whisked off to the nursery for examination and I remember thinking "here we go!" Off on a new adventure with our second little boy.
The Truth Was Revealed in Stages
At some point, my husband, Bob, slipped away to go get a peek at his little guy (he had weighed in at almost 9 pounds and was so cute). What he did not expect was to see the nurse who was examining him in the nursery jump half out of her skin. When she went to look into his eyes, she discovered the tragedy—there was one completely missing.
It didn't take my husband long to figure out, "Houston, we have a problem."
He burst in demanding in his own soft-spoken way to know what she had found. It really was not her place to tell him but given the unfortunate circumstances, I'm sure being confronted by a father on the verge of hysteria if he did not get an answer, made her decide she had to tell him and summon someone. I always think about that poor woman—I bet that did not make her day! And I think about my poor Bob standing there trying to cope with that on his own.
Meanwhile, back in the recovery room, I'm getting upset because I wanted my baby. Regardless of what is going on with me, I want to see my baby, hold my baby, and start bonding with him. Finally, after much debate (all on my part) and me finally threatening to get up off the gurney and go find him if need be, the nurses and staff told me to calm myself down. They said they would make sure someone brought the baby to me.
As they say, hindsight is always 20/20 and crystal clear. On looking back on the events of that evening, I realized what I was looking at but was not seeing even though it was right in front of me. At the time, I was just trying to convince myself that all was well and that I was being too paranoid. When the nurses came in with Patrick and my husband in tow, I could have sworn that Bob looked like he had seen a ghost. I could have sworn that people were acting weird, but I kept asking myself at the time, why would they do that?
When I reached for Patrick, the nurse very carefully turned (I remembered later) to the side and kept him swaddled in the blankets, turned away from me. I only saw his right side. It was like she was hugging him to herself. He looked perfectly content and sweetly sleeping to me. But why was everyone acting so funny?
When I asked them to give him to me so I could nurse, they all said practically in unison "No! We don't know if you are going to have to go to the OR so we don't want you taking the baby right now; we need to keep an eye on YOU."
Then they all started to exit stage left. I sensed something was definitely wrong so I blurted out at the last minute, "Stop right there! What is going on?"
Looking all very guilty indeed, they turned around and the nurse holding Pat said "Okay, you got us ... there's something a bit wrong with the baby's eyes. We need to have a specialist come in and examine him; and you are in no condition right now to be getting upset."
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I remember very vividly specifically asking (I am a medical transcriptionist by trade and all sorts of possibilities were going through my head rapid fire) if it was something along the lines of his eyes being crossed or something. I wasn't overly concerned about that because I knew that that was a condition that could be fixed. When everyone rushed to exclaim "Yes, that's it!" I still had the funny feeling that I was missing something. But why would they lie?
As things turned out, I did not have to go to the OR; the bleeding eventually stopped, and I was sent up to the floor where I was in a room by myself for the time being. Bob had come in to say goodbye but he had been really 'stiff' and definitely not himself. I kept trying to reassure him that everything would be okay as I understood crossed eyes was no big deal. The baby would be good as new with a little minor surgery. However, I was still upset that they were not bringing me the baby. He kept reassuring ME that they needed me to rest and were still worried that I would hemorrhage. All I needed to do was just please keep quiet and rest - he'd be back first thing in the morning. I was thinking he had enough to worry about and just tried to put it out of my mind.
As OB floors go, people of course come and go, and eventually I had two other roommates with me by about midnight. In the meantime, I had stabilized enough that they let me finally sit up and make a few phone calls. I called my sister to tell her about the baby but it was just niggling away at me that they would not bring him to me. She pretty much told me to quit worrying about it as did my mom when I called her - that I was making too much of this whole thing and just needed to be patient. It was probably some totally small thing and I was just working myself into a lather over nothing. Easier said than done when you know something is wrong but you just can't figure out what!
"He's Missing an Eye"
A pediatrician literally woke me out of a sound sleep before dawn the next morning. He brushed aside the curtain of my cubicle in the hospital room and shook my foot to wake me.
I was vaguely aware of the other two people in their beds definitely within hearing of the most startling news I think I would ever hear in my life—delivered rapid fire as if he could not wait to get out of the room. No introduction, no softening the blow but I guess that is better in retrospect. He just blurted out, "Okay, I examined your baby and there's definitely something wrong. He's missing an eye ... and the other one doesn't look too good either."
All I remember is thinking it was a dream—definitely a nightmare and that I would be waking up any minute from it. Then I remember the tears, falling silently as I struggled to grasp what he was saying. Certainly this could not be the truth— it just didn't happen. If it did, why hadn't I heard about it before?
As I struggled to try to gain some composure without breaking apart into a million shards of grief, he just patiently stared at me as if he needed me to get hold of myself and toughen up. So I did. I finally was able to speak and asked him all the questions I possibly could think of as they flew through my mind. Was he going to be totally blind? Was he going to have a normal life? What caused this?
Obviously, this doctor was not at the head of the class when it came to bedside manner, so I received relatively little in terms of information.
Poor Bob (my husband) had made arrangements to be at the hospital when the doctor was coming in to examine Patrick, but somehow the doctor had beaten him to it and was long gone by the time Bob came flying into my room outraged beyond belief that the doctor had barged in and given me such bad news so abruptly and so alone. The other two poor girls in my room were still speechless. I think it traumatized them nearly as much as it did me!
At any rate, I have to say that day I grew up 10 or so years. I suddenly realized that all the trivial things in my life up to that point (a ripe old 24 years of age) meant nothing. All I could see and all I could feel was overwhelming grief for all Pat would not possibly be able to do or what kind of challenges his life would hold for him.
Why had it happened? Not to me but to him? It just seemed so unfair. It also suddenly hit me how we so take for granted our perfect babies and what a truly wonderful gift they are when there is nothing wrong. All of a sudden in the space of about 12 hours, all of our lives had taken a shift that none of us had anticipated.
I will say though that in that early morning, finally holding my little boy and trying to look down the road and see what our lives would be like in the years to come, I could never have envisioned (of all the words) what a treasure I received that day in giving birth to Patrick.
Even though it was so hard at first, and even though it felt like my heart had been ripped open, I did decide that day to make sure that Pat was going to have everything that life could offer in terms of exposure to the world, love unlimited, and that if it should turn out that he was completely blind, it would not matter a bit.
Above I've linked to a video about a little boy named Max who has a similar visual condition. Max's family learned about his condition when he was at 24 weeks' gestation, so his parents had time to prepare for it before his birth.
Speaking personally, I'm not sure that knowing ahead of time would have helped. To have received the news while I was pregnant would have been extremely difficult as well.
I would never have considered termination as an option, either (Max's family never considered it; they are a remarkable family). In fact, when I got pregnant again after Patrick, we had been told by this time that it was probably a genetic defect though at that time, it was extremeley rare. There were no support groups because no one knew there were any other children like our son. I had an ophthalmologist tell me when I was pregnant with our third child that I should have had an abortion and that probably our baby would be born with no eyes.
The Birth of Our Third Child
I can honestly say that the day our third child, Kate, was born was perhaps one of the most joyous in my life. I had come through the pregnancy a little worse for the wear with worry. We had not planned another baby and then to be faced with the possibility of the defect being bilateral, we were a bit shell-shocked to say the least. However, abortion was never even thought about. By this time, Patrick was 17 months old and even though it was extremely difficult and he required much more than the usual baby care and attention, etc., it was never a burden. It was actually an inspiration to see him growing and changing into the person he would one day become.
The day Kate was born, I again managed to somehow fly through labor and before I knew it, I was going to be facing the reality of another possible birth defect. Everyone in the delivery room, including Bob was trying so hard to distract me and make me feel good when all I wanted was to see my baby and know the truth. Since she was to be our last, I knew that it would be a milestone no matter what happened but the long wait had about killed me. When she was finally delivered, I did not notice that she was a girl—I did not notice anything but began peppering my poor doctor and Bob, anyone who would listen with, "Does she have eyes? Please look at her eyes!"
I don't think I'd have liked to be that poor doctor that day. He was literally a nervous wreck, as I have no doubt he was worried as well. He had recounted to me a one in four chance of it recurring and it being bilateral. But bless his heart, he was brave and he looked—and when he smiled and gave me the verdict that there were in fact two beautiful eyes, and oh by the way, did I happen to notice that I had my baby girl?
I whooped and hollered and made a general spectacle of myself. Bob was trying to quiet me down out of total embarrassment but somehow the staff all understood and started to whoop with me. I always tell Kate that I loved her the day I met her because it was such a celebration in the delivery room.
What We Know About Anophthalmia/Microphthalmia
My story is not unique and I realize that. There are so many babies born around the world these days with birth defects. That is a frightening thought right there—and they seem to be on the rise. I have burst into tears watching TV programs where children with lesser defects than our son's are left to die. How blessed I feel to have had my son!
Anophthalmia/microphthalmia, which is what our son has is a rare SOX2 genetic mutation. However, now it is far more prevalent than it was 31 years ago when we had Patrick.
Scientists believe that environmental factors are the primary cause of this defect, but more research is desperately needed to determine its precise causes as well as how it can be prevented.
The wonderful groups that have sprung up over the last decades are simply inspirational. The families that have gone through what we went through so long ago have shown their courage in ways I could not even have imagined. I know because we have been there and walked in their shoes. They have made it better for the next family that has this happen to them and for that, they receive my gratitude. I would have embraced these support networks and would have found such solace in other people being in the same place and dealing with the same issues.
The opportunities and services available now are remarkable compared to what we had in our journey but I for one am so happy that they are there now for these special children. When we were going through our situation, we had a fight on our hands at every turn but it was well worth every moment of it! Getting services for the handicapped should be a no-brainer. Low vision and blindness are so misunderstood and there is a lot more turf to cover.
I believe having a child with a birth defect is a godsend in many ways. I never thought I would say that but I truly believe it. It makes you acutely aware of all the gifts that we "normal folk" take for granted every day. It makes you take a long hard look at yourself and decide whether you can step up to the plate or you can fold. I like to think most people with a child with birth defects come out on the other side a better person—probably more stressed and more physically tired—it is a long and tedious journey raising someone with a "handicap." However, the rewards in the end far outweigh the tribulations of the journey. You see life from a different perspective and at least for me, it taught me never to judge any situation or any set of circumstances because it always can happen to you!
There are many more parts to the story—this is just the start of our journey with Patrick. He was born with one eye that did not develop at all (just a nubbin of tissue was in the eye socket) so he has a prosthetic eye. His other eye was severely damaged as the eye itself did not fuse all the way. He is in effect legally blind for all intents and purposes—but a more gifted and wonderful person I have yet to meet. It still staggers me to think of my little baby as being 31 years of age and to see how far he has come! It proves that old saying to be true, "the best is yet to be."
How Families Cope
Learn More About Anophthalmia and Microphthalmia
- Facts about Anophthalmia / Microphthalmia - CDC
Anophthalmia and microphthalmia are birth defects of a baby’s eye(s).
- MAPS: Microphthalmia/Anophthalmia Parent Support
The MAPS family is an extremely diverse group, including people from many different countries, nationalities, faiths and religions. Read our family stories, telling of the challenges and JOYS of raising our children.
Another Helpful Resource
Audrey Kirchner (author) from Washington on November 08, 2012:
Gosh Ronel--what an amazing story--did you go on to get a prosthetic eye then? Our son was born in 1978 in Detroit Michigan--we were fortunate that his socket was well formed and he had a rudimentary eye with no nerves, etc. but it made it easy to get a prosthetic after only a few months of stretchers. Of course that was a long process so he wore a "blank" white whell for a good long while.
Thank goodness they've come some ways in the past 30 years and it is not such a shocking circumstance. People though like you and my son are my inspiration, however, because you show the world what it's like on a day to day basis and how a thing like a birth defect doesn't mean the end of the world!
Thanks so much for your visit and your story--wishing you every blessing life has to offer. I received many times over through my children!
RonelRoux on November 08, 2012:
My name is Ronel, I was born on 9 December 1975 in South Africa. I was born without an eye. The skin was closed over the socket. When they cut it open they saw there was no eye in the socket. The shape of the eye socket was a round circle. I have no optical nerve or muscles. I had 21 surgeries over the years to shape the socket and stretch it.
My mother assumed I was dead when I was born, they took me away from her and only gave me to her when I was 3 days old. I don't think they had an idea how to deal with situations like that way back then.
Although the left eye looks funny as there is no movement of the prosthesis, I do have vision in the right eye. I do wear glasses as I have a very high prescription.
Its so nice to read that other people have experienced similar situations. For a very long time I thought I was the only person that was in this type of situation.
Thank you for your story
Audrey Kirchner (author) from Washington on October 09, 2012:
Hi Tim--that is an amazing story!! I'm glad you got to get your driver's license--our son Pat has not been as fortunate. I'm going to do a hub sometime on the difficulties of low vision/visual impairments such as these as people just don't seem to understand them--though it is unusual to be sure.
Take care and wishing you EVERY success!! It was very hard for me to let Pat "go" at certain points in his life--like to school at the University of Washington--but he proved again and again (like you I'm sure) that he is a highly intelligent, extremely capable and wonderfully brilliant person....so no worries~ Fly!!
Tim Sherrill on October 08, 2012:
Thanks for this story. I have been trying to find out other stories about this condition to see other people's stories. I was born in '91 with the exact same condition, and the doctors did not know what to do at all. Everyone thought that I had some kind of brain damage from the start, so I went into special classes early on. I got out of those from 3rd grade forward. Life was a bit difficult trying to get around, but I eventually learned how to compensate for the condition. Whenever I was 19, I finally got around to getting my driver's license (after 3 other failed attempts), and now am in school at College of the Ozarks learning more about life (and other people's impairments). If you want to contact me, my e-mail address is email@example.com. Thanks again for the story!
Audrey Kirchner (author) from Washington on February 05, 2012:
Cheston sounds like a trooper and I'm sure he'll surprise you even more as the years go by.
You can email me at firstname.lastname@example.org directly if you'd like...picture welcome~~~
If you CAN possibly connect with a mobility specialist (they started Pat at 6 months old so never too early) through special education or services for the blind, you'll find that he'll move along (literally) quite rapidly. It left to their 'natural' protective senses, these children do tend to become overprotective since they cannot see or see poorly and they don't develop movement skills that they will need as rapidly. Patrick resisted most everything we did (at first) with movement and stimulating the vision he had left but in the end, he says now "he is a smarter seer" as he has learned so many coping skills and compensatory techniques that that is what has helped him lead a fairly successful/normal life.
Don't worry about the tears - it is a loss that is hard to deal with finding out that our children are born with birth defects. I think it is one of the hardest things in the world to understand and cope with - no matter HOW much you love them and are thankful for what they DO have. It is just a coping mechanism I think to release it through tears. I cried for a long time by myself because no one understood what I was going through and sometimes they said things that while true, really were hurtful - as in "it could have been worse," "look what he DOES have," etc. Easy to say when it is not your child and your world is turned upside down. I can't imagine having 2 kids the same age and going through it though my oldest had ADD and was 2 when Pat came along. I always say THAT kept me from being sad long because I was constantly on the move!
At any rate, keep in touch and I'm so glad the surgery went well. Ocularists are my favorite "artists" of all time- it truly is a wonderful gift. They are usually the most remarkable people as well I've found. Thinking every positive thought for little Cheston -and write any time! Audrey
jwilson on February 04, 2012:
I can't believe it has been six months since I have updated you. I was sitting down working on somethings on my computer for Braille lessons I am getting ready to do for a gifted class for the school I work for and thought I have not been on there in so long, I need to update her.
Things are still going great. Cheston had surgery in August where they removed the cyst in his right eye. They did remove the eye and put an implant in. In November we went and got his prosthesis. He looks so handsome with it in. The ocularist painted it to match mine, blue! The boys are 11 months old now. I can't believe how fast time has went by. Cheston is a whopping 22 pounds now. He is such a creature of habit. He loves his morning blueberry pancakes. He waves to everyone and just loves life. He enjoys all the kids he plays with daily at the day care and claps all the time. He is such a happy boy. He has become a local celebrity. The local newspaper did a story on him a few weeks ago and we were so pleased by how it turned out. Clayton is still a mama's boy. He is cruising everywhere. His sister calls him "stinker" and she calls Cheston Chessy boy.
Cheston is having his left eye and cysts removed on March 13. Then we hope it all goes as smooth as it did the last time and he will get his prosthesis this summer. The one difficulty we are having now is the moving. He sits up and stands up when we place him on objects but we are having a hard time motivating him to move. We know it will eventually come with time though so we are trying to be patient.
Life is wonderful and getting better everyday. It is still hard and I still catch myself crying sometimes when I am by myself but I know everything will be fine. I wish I could send you a picture of him. If there is anyway we can do that, let me know and I will try and do it. Thanks for listening and hope all is well with you and your family.
Audrey Kirchner (author) from Washington on July 26, 2011:
Remarkable story, James - so glad you have the privilege of knowing someone who is sight impaired. It's not the end of the world most assuredly and in my Pat's case, it gave him so many gifts. It seems that once a sense as they say is removed, your other senses heighten. Music is a natural for him as well~ Thanks for sharing my experience with me!