The Eyes Have It
The old saying goes that "the eyes are the window to the soul." Our eyes say a lot about who we are, and eyes are most often the feature that I notice first about people. A person's eyes can say so much about a person without them ever having to say a word. They say things like what kinds of sadness they are hiding deep inside, the happiness they are finding hard to contain, wisdom beyond understanding, and sometimes pain that cannot be explained. It may seem a little weird, and maybe it is the Sociologist or the hopeless romantic in me, but I think that eye contact is not used nearly enough. I love to look into a person's eyes and try to gather all of the information about them that I can, not just information they are telling me, but things their eyes tell me. All of the unsaid and unspoken things that a person's eyes can tell you are so important to humanity and understanding people. I've always thought that I had the most boring brown eyes. I always dreamed of having bright, sparkling green eyes. In fact, there was a time, when I had long red hair, that I had green contacts just to temporarily grant my wish for green eyes. I'll never forget a moment, that seems so long ago, when someone very dear to my heart looked into my eyes and reassured me that my eyes were not boring brown. This person said that they are in fact brown, but have a slight ring of green around the edges making them extraordinary, and in fact that my brown eyes tell more about me than I'm able to tell about myself. As I reflect on that conversation, I realize how right they were not about my eyes being extraordinary but about what they can say about me that I often try to hide, and this is exactly why I find eyes such a fascinating and enlightening human feature. I did not realize how the eyes play a much bigger role than telling the story of a human soul, though, until recently. I learned too quickly this week that sometimes the eyes tell us things about our health and well being. Unfortunately, Elizabeth's eyes are telling us things that I was hoping to never hear of or let alone see, which have brought a lot of tears to my own eyes.
Elizabeth's vision has been something since she was born that I have argued with doctors about over and over again. There was a long period in her first 9 months, really, where I took her to different doctors and stated that I believed that she could not see. She seemed to not notice things, did not track objects or reach for things, and she often would seemingly gaze right through objects that were in front of her face. Doctor after doctor told me that her eyes were fine, she was responding to light, and was a little bit farsighted, but that it was normal considering her being born prematurely. I would leave the visit feeling a little bit crazy or that maybe I was imagining her vision to be poor. Until, the day that I took her to my eye appointment with me at Dittman Eye Care, and Dr. Nock agreed that her vision was poor and referred me to Dr. Herzig, our current Pediatric Ophthalmologist. Dr. Herzig agreed that Elizabeth had both strabismus (lazy eye) and amblyopia (crossing of the eye), and that she was farsighted enough to need glasses. So, we got our first pair of glasses in September, and since we have seen improvements in her vision and interaction in her environment, because, well, her eyes can see! It was amazing to watch her really see things for the first time. I've said all along that Elizabeth has been a lesson on patience for me, and that she has definitely made me slow down, prioritize and appreciate the small little and yet enormously incredible bits of beauty and progress that are around us each and every day. It was such a blessing to see her finally being able to see her favorite faces, objects and things.
We started Vision Therapy shortly after that. Our Vision Therapist, Josette, is amazing and very talented and knowledgeable. Elizabeth has made huge gains in her vision with the glasses and the addition of Josette to our EI team. We were even seeing less of the lazy eye and crossing with the glasses. It was Josette who first mentioned the prospect of Elizabeth having CVI (Cortical Vision Impairment), which was later confirmed to be true by Dr. Goldstein and Dr. Roman-Lantzy. So, we began implementing various interventions to help Elizabeth's brain to see as well as her eyes. There is a small window of time for progress with CVI, and it is slowly closing in on us, and so we now have vision therapy two hours per week in the hopes to help her make as much progress as possible. We have seen progress in many ways, which is always hopeful. Unfortunately, in CVI, it is the brain that does not process visual input, and therefore after a certain point she will reach her visual peak. Whatever she sees at that point, which is in early childhood, is what she will see for the rest of her life. This is why we wanted to get her to CVI specialists in Boston and San Francisco this summer to gain further insight and guidance on how to best help her and manage her CVI. As you know, we are taking her to CVI specialists in both locations this summer. I never imagined that CVI would be the least of our worries with her vision.
So, historically, I have always been concerned about her eyes and her vision, and our Genetics appointment added another piece to the vision puzzle. In December, with our initial visit to Genetics, we learned another alarming feature of Elizabeth's eyes. The geneticist was examining Elizabeth and asked me if I had ever noticed anything different about the whites of her eyes. I said that yes, and that I have always felt that they were a strange color. The whites of her eyes have always looked grey or blue to me. We were told that this is called Blue Sclera, and that this explains the odd grey and blue coloring that makes the whites of her eyes, well, not white. This means that the tissue, sclera, that makes up the whites of her eyes is thin/ thinning, and because it is thin you can see the fluid in the eye through it, which also explains the discoloration. The geneticist explained that Blue Sclera is a feature of different syndromes, particularly the Connective Tissue Diseases, and that it is something that they would be testing Elizabeth for as they continued to follow her. Some Connective Tissue Diseases have more positive prognoses than others, so there I was again hoping for the best. Some of these diseases cause progressive loss of function all over, or just in certain areas of the body, and some of them are life threatening while others are not. While we wait for the results of the exome sequencing, we wait to see if it is in fact one of the Connective Tissue diseases so we can confirm a prognosis for our sweet girl.
Needless to say, Elizabeth's vision is something that I observe very closely. In the past few months, we have noticed that she has begun to feel people's faces, rake her hands over items, and use her sense of touch much more frequently. The Vision Therapist and I were rather excited by this, because we felt that it may be a sign that she would be a good candidate for Braille in the future, and or that she was learning to explore her environment in other ways. In the past month, I have also noticed, however, that I'm seeing more of the crossing and the lazy eye even with her glasses on. So, I was glad that we already had an appointment scheduled with Dr. Herzig. It is ironic how some things that seem so exciting and look like progress in hindsight were actually signs of regression that brings sadness. I had no idea how the use of her hands to feel and use touch to explore her environment were a sign of changes in her vision, not an effort for her to integrate senses to gather information and to interact in her environment.
On Wednesday morning, I was getting Elizabeth ready to go to our eye appointment with Dr. Herzig, and I noticed that today the whites of her eyes looked particularly blue. In fact, they were actually a pale baby blue. It is rather alarming when anything is not the color that it is supposed to be, especially in a child with multiple medical and special needs like Elizabeth. I was relieved, though, that they were in fact blue today so that Dr. Herzig could see it for herself. We arrived at the appointment, and I shared my increasing concern about the increased amount of crossing and lazy eye even with her glasses and inquired about the fact that her sclera was in fact blue today. I feel like I've seen my fair share of concerned doctors over the past 9 months. Again, even if their tone remains calm and collected, you can see it in their eyes. Today, I could see this concern in Dr. Herzig's eyes, as she simply said, "Your mama was right." Dr. Herzig first confirmed that she definitely has Blue Sclera, and that she wanted us to stay so that she could dilate her eyes and check the fluid, thinning, etc. of the sclera just to be safe. I obviously agreed to do so. She also explained that some days the Blue Sclera will change shades due to the amount of lighting at that given time and the amount of fluid in her eye, which is why some days the whites of her eyes look grey and some days it looks blue. Dr. Herzig also explained that this is common in many Connective Tissue diseases and in other syndromes. Then, she explained the true reason for her concern, the fact that I was right. I was truly noticing more crossing and more of the lazy eye. In the three short months since we had been to see Dr. Herzig last, Elizabeth's vision has rapidly regressed, and is showing us that her muscles and tissues are quickly losing the ability to control her vision. So, not only is her brain not able to interpret visual input normally, but her eyes are quickly losing the functional vision they have due to the progressing loss of the function of the muscles and tissues in the eye. We increased the prescription in her glasses three times higher than it has been, and Dr. Herzig said that she is going to need bifocals soon as this rapid regression continues. Dr. Herzig also suggested that we call Genetics and inform them about the rapid change in her vision status. She was very concerned about the rapid regression in her vision, and with the combination of the Blue Sclera, it indicates that we are dealing with some type of syndrome or disease that causes rapidly progressive loss of vision. The sweet, beautiful, anything but boring, brown eyes of my princess told us all of that. The eyes have it. They have a story to tell. The stories her eyes told us on Wednesday was simply heartbreaking. I cried the rest of the day, would pull myself together again, and then would cry again.
I called Katie Long at Genetics to fill her in. She was very alarmed, thanked me for letting her know, and she called Baylor's Lab (where the genetic testing is being done) to inform them to be taking a closer look for genetic variances related to Connective Tissue Diseases and anything that causes rapid vision deterioration. We had an appointment at the Western PA School for Blind Children on Thursday this week. It has been my number one choice for Elizabeth to attend preschool, especially since they have an outstanding program for children with CVI. I am finding it very surreal that my research pointed me in WPSBC's direction for preschool even before I knew about the rapid vision loss. In light of everything we have learned in the past few days, it seems that it really is going to be the best fit for Elizabeth. First of all, the staff is amazing, the facility is unreal, and just observing the interactions between the students and staff on campus filled my heart with joy. We are returning at the end of the month to officially tour the school, but there is no doubt that it is the place where I want to her to attend preschool. She can stay there beyond preschool, and I will send her wherever she will be best suited to help her be her best. I would have no problems if she was to stay there for much longer than preschool.
After several conversations with doctors today, we have come to the conclusion that the exploration of the environment with her hands is likely not an effort for her to integrate and interact in her environment. It is much more likely, and the recent eye exam indicates, that this recent need to explore her environment via touch is Elizabeth's way of replacing one sense for another. It was her non-verbal way of telling me that she is losing her vision and needs to begin to find other ways to see. The additional crossing and lazy eye movements that I was observing were more overt ways to alert me to the vision regression, and the increased use of touch was her covert way of telling me the same thing. I never would have guessed that the issues with her vision would be the first telling sign of what lies ahead for her. I feel like her vision, or lack there of, is something that I have been battling for all along, and I'm beyond frustrated that my mother's intuition and observations are just now being validated in this area. Her eyes all along have been crying out to me, telling me a story, that she couldn't tell me herself.
I am not usually one to cry. Those of you who know me well, know that it takes a lot to make me break down and cry, especially in front of other people. I used to think that crying didn't solve anything and it was a colossal waste of my time. However, recently, I've learned that crying and letting it out is very therapeutic. Sometimes, if I'm alone, like I was in my car on Wednesday after the appointment, I cry and pound my steering wheel with my fist, and I just want to smash things. God, I want to just smash the living glory out of something. I rarely go that far, but I bet it would feel good. A Special Needs Mom Friend encouraged me to take a plastic bat and just beat it into shreds against a tree. Apparently it does wonders for frustration and is very therapeutic. Today, I was filling in her therapists that were here, and I cried in front of them. They all were tearing up and trying to comfort me. I'm so grateful for them, not because of their work with Elizabeth, but because of the support they are to both of us. We are about to lose Michelle, our PT, who has been with Elizabeth since she was 3 months old. Admittedly, and selfishly, some of my tears talking to her today were about my sadness over losing her. However, I totally understand why she is making the choice to leave, for her family, and I encourage and admire her for flying in the direction of the things that matter most. Speaking of family, I was on the phone with my mom for over an hour, and I let my guard down and cried and complained and cursed everything under the sun to her. She cried with me, and in her way validated my feelings and told me that it was ok for me to be so frustrated and angry and sad. I am all of those things. As I look back on this past week, I am grateful for the good times and laughter during my girls weekend with my cousin, Linds, and my friend, Rachel. I am grateful for the opportunity to have had dinner with a long time friend, the original Elizabeth, and the joy that her presence brings to me, and for the deeply philosophical conversation that we had about life over dinner and drinks. I'm so thankful for those of you who I can literally call anytime, who can make me laugh, who can encourage me to remember the blessings in times when I am having trouble seeing the them right in front of me. In times like these, those gifts are totally priceless, and you are all gifts to me.
Expecting the unexpected is an understatement when referencing this journey with Elizabeth. So many times, I've been at a doctor's appointment and hear things that I'm not expecting to hear, that I'm not wanting to hear. Wednesday was not the first time this has happened to me, but Wednesday was, by far, one of the most devastating appointment days that I have ever had with her. I am scared for her. My heart is aching for her. Why on earth is she the one who has to endure this? Why can't it be me? I question and reflect on the things that maybe I've done that have made me deserve to watch something so beautiful deteriorate and struggle right in front of my eyes. Then, I reflect on the amazing progress she has made in two years. I rejoice in the fact that mamma was her first and is her only word. I can say with certainty that her eyes have it, because when her brown eyes lock with mine, I can feel how much she loves me. When she and Celtan's brown eyes lock together, the love they have for each other is totally overwhelming. I think then how blessed I am that I am the one that was given this miracle, this amazingly beautiful blessing, these two beautiful children with brown eyes, like mine, that make me see the world in a brighter and lovelier way each and every day.
This morning, I was drinking my coffee and looking at the sunshine and reflecting on the past few days. The total loss of vision is always something that I have felt would be so unfortunate. When total loss of vision is imminent, and unstoppable, in your child, unfortunate doesn't even begin to describe it. She doesn't deserve any of this. I'd rather lose my vision. I'd rather loose everything I own just to make her healthy and well. It is not fair that I've seen so many beautiful things in my life that are etched into my memory because I saw them with my own eyes, but that she will never get to see many of those things. Since she is non-verbal, at least right now, she can't even tell me what she sees and what she doesn't see. It is heartbreaking to me. There are so many beautiful things I want her to see. If I had the money, I'd have her on a plane right now. We'd be seeing the Scottish Highlands, Loch Ness, the castles in Scotland, New York City, The Carolinas, The Grand Canyon, Northern California, Southern Oregon, the mountains, the ocean, the deserts, the lakes, the trees, the stars in the sky, what different fish and animals look like, her beautiful face in the mirror, and I could go on forever. I want her to see and know flowers. I know she has seen these things, and I know that she can still see. But, from this moment on, I am going to make an effort to show her things, beautiful things that I see, that are around us every day, and I will remember her smile, or how she touches them, and I will know that she sees them, and it will remain forever etched into my mind like so many other beautiful things that I have seen that I want to share with her. And, instead of focusing on her deteriorating vision, I am going to delight in the vision that she has through touching things. I'm so glad that she knows enough to start integrating the sense of touch to help her visualize. Now when she reaches up and touches my face, it will mean more to me that it ever has before. I just hope that she remembers my brown eyes looking at her, and even if she can't see my face, that her hand will tell her it is my face and her ears will tell her it is my voice.
And, maybe we will be blessed and a miracle will happen and her vision loss will be reversed or halted, even temporarily. Just in case, I'm not wasting any time. There are things we will be stopping to see. The eyes have it, and I want her eyes to see everything they can. I would want that for her anyway. I want both Celtan and Elizabeth to see and experience every beautiful thing that this world has to offer them. I literally want them to stop and smell lavender, and pick flowers, and learn to appreciate beautiful things, always. I know that I have instilled this in Celtan, as he is always bringing me things that he finds outside that are beautiful to him. Sometimes it is a flower, sometimes its a leaf, sometimes it is a weird bug that terrifies me, but I know that he sees and appreciates beauty, and it makes my heart glad. We were given eyes to appreciate the world, to appreciate beautiful things, to tell our story even if we can't or won't tell it ourselves, and to connect with the people around us. I want her eyes to fill her beautiful soul with beautiful things for as long as her eyes will have her do that. After that, I will continue to encourage her to see her world with whatever senses she chooses.
So, her eyes are showing us signs that are not what we had hoped for. The hardest part for me isn't the vision loss, it is the fact that we don't know what "this" is that is causing the rapid vision loss. We don't know "what" is causing any of this. It is literally killing me. My heart is so sad, because I don't know what this is that is so significantly impacting my daughter. I'm a fixer, a problem solver, and I can't fix this. It is so frustrating to me that I can't fix this. I would give anything to fix this, to take these burdens on her and place them on me. I look forward to seeing the day when we know what this is, so that I can curse it by it's actual name, so that I can research ways to help her, research new treatments, seek out leading experts, and continue to find any way possible to help Elizabeth. The beautiful princess who turns 2 on Sunday. The blessing of seeing her grow, develop, thrive and survive tops my list of the most beautiful and inspiring things that my brown eyes have seen, ever. There is no doubt about that.
