Friday, August 10, 2012

Eve's Eye Condition - Corneal Anesthesia

The Diagnosis

As we were struggling with Eve's feeding problems and figuring out how to cope with her hearing loss diagnosis, we discovered yet another problem.  When Eve was about six weeks old she came down with a cold.  We started to notice a slightly cloudy spot over the middle of her right eye.  I remember calling the hospital's nurses hotline to ask about what over the counter medications I could give Eve for her cold and mentioned Eve's eye to the nurse.  The nurse told me that it is common for babies with colds to have mucous come from the sinus passageways into the eyes.  She advised us to wipe Eve's eyes with a soft napkin.  When I did this I noticed that Eve did not close her eye when I would wipe it.  I remember thinking this was somewhat odd but did not really dwell on it.  The next week I was on the phone with Eve's pediatrician and mentioned the issue with Eve's eye and she was not concerned.  Every day I would look at it and I realized that the spot was getting larger and larger and we became more and more concerned.

On February 25, 2011, Eve had another visit with her pediatrician and I asked the pediatrician to take a look at it.  She agreed something did not look right and said she would get us in with an ophthalmologist.  As I was heading home from the pediatrician I received a call from ophthalmology.  The pediatrician had called them and they wanted me to bring Eve in that very day.  So we brought Eve in to see the ophthalmologist.  He said he could not tell us what was going on unless he could examine the eye with Eve under anesthesia.  He told us he thought she might have glaucoma in her right eye.  Needless to say, John and I were alarmed.

On March 1, 2011, we were able to get Eve into the hospital for an examination under anesthesia.  We spoke to the opthamologist beforehand and he again told us he did not know what the problem us but he was certain he would have an answer for us following the examination.  We anxiously waited for about 30 minutes and they called us into a room to talk to the opthamologist again.  He told us it was not glaucoma.  He said the epithelial layer of her eye was extremely damaged and there was a central scar-like lesion over her cornea but he had no idea what could have caused this to happen.  He said he did not think there was an infection as it is highly unlikely for only one eye to become infected, and only her right eye was affected.  He gave us a cortical steroid to apply to the eye for a few days and said that if the condition did not improve by the next appointment, then it meant that the cause probably had something to do with her nerves.

Eve  on 3/1/11, just before we left home to have her first eye exam under anesthesia.
Three days later, March 4, 2011, we brought Eve back into her  ophthalmologist .  He confirmed our fears - her eye was not improving.  I remember waiting forever in the waiting room, then waiting even longer as he examined her and then left the room so he could confer with the head of the practice.  John and I were in agony as it was becoming more and more clear to us that our deaf child may have a serious problem with her eye that even her opthamologist was struggling to identify.  We waited so long that eventually I had to go back to the car to get my breastpump, as I could not go more than a few hours between pumps at that time.

I remember walking to the car in a daze and, as I was stumbling back I ran into a woman, a grandmother, whom we had spoken with briefly in the waiting room.  I think it was obvious that I was struggling because she asked me if everything was okay.  I could hardly vocalize a response, and I simply burst into a fit of tears on the sidewalk next to the parking garage at the Childrens hospital.  This woman simply gave me a hug and let me cry and told me we would figure it out.  Slowly I gathered my composure, thanked the complete stranger, and went back inside.  When I went inside, I found John just holding Eve tightly and he had tears streaming down his face.  It was so surreal.  I don't think either of us could believe what was happening.  I kept repeating in my head that Eve (and us) already had too much to deal with.  How could we possibly handle anything more?

Finally Eve's opthamologist, and the head opthamologist of the practice (who eventually became Eve's main opthamologist) came into the room.  Both of them examined her together and then they started bouncing ideas off of each other as to what the problem could be - naming rare conditions that John and I had never heard of.  They asked us if we were Jewish - to which we answered in the negative.  Finally, they told us they believe Eve has an eye condition called corneal anesthesia.

Corneal anesthesia is a condition in which the person has no or a reduced sensation of touch in the cornea.  There are a variety of causes for this condition, but in extremely rare cases, someone is born with the condition.  It involves either failure of the fifth cranial nerve, or the part of the brain that processes the signals from that nerve (the pons).  It is often associated with a condition called familial dysautonomia, which is why the opthamologists asked us if we are Jewish.  Familial dysautonomia occurs nearly exclusively in people of Eastern European Jewish ancestry.

Corneal anesthesia is an extremely difficult corneal disease to manage.  It has no known cure.  In fact, the article I have linked below says it is one of the most difficult and challenging ocular diseases that still lack treatment.  What happens is that, because there is no sensation in the eye, the eye does not blink, produce tears, and the internal processes that the eye has for repairing any damage that occurs to the eye does not function properly.  To make things worse, because the patient cannot feel any pain or other sensation in the eye, they often self-inflict wounds, simply because they cannot feel when they are causing themselves damage.  With an infant, this condition is that much more difficult to manage because the child simply does not understand that she needs to protect her eyes.

Here is an article that discusses this condition, its causes, and its progression.
http://www.nature.com/eye/journal/v17/n8/full/6700616a.html

The initial stage of treatment that the opthamologist suggested back in March 2011 was just to extensively use lubricating drops and ointments.  Over a matter of several agonizing weeks, Eve's eye did heal.  There were ups and downs during that entire process that were extremely frightening for John and I.  We had to bring Eve back in a few more times for additional eye exams under anesthesia but there was slow improvement.  Once the right eye healed from that incident, we used preservative free-lubricating eye drops every hour on the hour.  We hoped that would be enough.  Unfortunately, it wasn't.

The Second Incident

We went several months without incident.  We brought her into the ophthalmologist every few months and we thought everything was going to be okay.  Then, some time in November we started noticing both eyes looking more and more red more and more often.  Finally, towards the end of November, right before our planned trip to Dallas over Thanksgiving, we realized her eyes were consistently looking more and ore red.  The ophthalmologist was very concerned and said both eyes looked pretty bad.  He instructed us to put lubricating ointment in her eye every hour for the next week and said that if things didn't improve he would have to perform what is called a tarsarrophy.- which means, in layman's terms, sewing the eyelids together.

He said we could go ahead and go on our Thanksgiving trip to Dallas but I regret that decision now.  Every day of that trip Eve's eyes got worse and worse and worse.  Both eyes became blood red, had cloudy looking white circles in the middle, and the circular areas were putting off this gross mucous-like stuff.  The right eye seemed worse than the left.  Here are the photos we sent to her doctor via email when we were in Dallas:


Left Eye.  11/28/11

Right Eye.  11/28/11

It was an absolute nightmare.  I remember falling asleep one night in tears underneath her crib.  I was convinced she was going to be blind.  Night and day I hoped and prayed and pleaded that her eyes would start healing but they were just getting worse and worse.  I nearly brought her into the ER in Dallas but her ophthalmologist just said we should just bring her in in a couple of days when we returned to San Diego.  The day after we got back home we were at the ophthalmologist's office first thing.  I remember checking her in and just sobbing uncontrollably.  John managed to stay composed enough to talk to the doctor and explain what was going on.  That day or the next day the ophthalmologist had her sedated and performed the tarsarrophy.  

Here is a close-up of what the tarsarrophy looked like once the swelling went down:

12/25/11

The entire month of December I was a complete mess.  The stitching on Eve's left eye came out a few days after it was first sewn in so we had to bring her back again and put her under anesthesia again to sew it back up.  

Eve was simply unbelievable through all of this.  She could barely see anything yet she remained happy as can be.  She seemed somewhat more subdued than her normal self through it all but she really amazed John and I with how well she handled it.  Here is Eve on her first Christmas with her eyes sewn about 80% closed.  I just adore her precious smile in this photograph..

Eve Troy.  12/24/11.
We left for Colorado to visit John's family on Christmas Eve.  The next day, the stitching on her left eye came out AGAIN.  UGH!  It was so frustrating.  This was, however our first opportunity to see how her eye was actually doing.  Fortunately, it looked MUCH better.

Left Eye.  12/25/11.

If you look closely at this photo, however, you can see the spot where her eye is now scarred because of this incident.

Here is Eve in Colorado!  Her first time in the snow!
Eve Troy 12/27/11
And here she is on her first birthday!



I really strive to do my best to make sure Eve has all of the same experiences that any other child would have.  Even though she has these issues, I do not want her to grow up and use her disabilities as an excuse to not do something or accomplish anything anyone else could accomplish.  I want her to learn that we all have struggles and challenges in different ways even though, for some people, those struggles are more  visible and obvious than for others.

The Ongoing Struggle

In January 2012 I took Eve to Philadelphia for some testing to see if she might be a candidate for a cochlear implant.  I will talk about that testing in my next post.  However, while I was there, her  ophthalmologist suggested I take Eve to a colleague of his, a corneal specialist who happens to have an office in Philadelphia.   As part of a very busy day I took her to see this specialist.  His suggestion was that we perform a more permanent tarsarrophy at the corners of each eye.  This is done by splitting each eyelid down the middle and then sewing the eyelids together for a period of time while the eyelids fuse together.  Doing so would keep the eyes more closed and keep the eye more moist and able to heal itself.  We were reluctant to follow this advice at first, but slowly came to realize that lubricating eye drops alone were not enough to keep her eyes in good shape.  On February 7, 2012, she had the procedure done.  This is what it looked like right after the procedure.

Partial Permanent Lateral Tarsarrophy 2/7/12.
About an hour after we came home that afternoon I looked away for one second and noticed that the stitching on her right eye came out.  This is what it looked like:

2/7/12.  Tarsarrophy stitching came loose.

So I frantically called her doctor and was able to get him on the phone by calling the hospital's main line and asking them to transfer me to the surgery area.  He was between surgeries and said we needed to bring her back that day so it could be redone.  He redid the surgery on her right eye using a slightly different technique, with the hope that it would stay better.  Here she  at physical therapy the next day:

Eve Troy. 2/8/12.


 And here is my all time absolute favorite video of Eve.  Even with all this crap on her eyes, she is just the happiest child.

video


Anyway, here is what her eyes look like now:

Eve Troy.  3/5/12.

Eve Troy. 6/17/12
It breaks my heart to know that her peripheral vision is impacted by this procedure.  But at the same time, we are hopeful that it will help to maintain the integrity of her eyes long term.  She may need to keep her eyes like this for years, if not forever. 

As it stands, both of her eyes have some scarring and opacification.  The right eye is worse than the left.  Her doctor does not think the scarring over the left eye impacts her vision but it probably has some impact to the vision on her right eye, although she can still see very well with that eye.  

Our daily routine with her right now involves binding her arms with arm braces at night and any time she is unsupervised in the car seat.  We do this so that she does not poke her eye when we cannot stop her.  We use swim goggles outdoors and, of course, in the water.  We use preservative free lubricating eye drops every 15-30 minutes during waking hours and use a lubricating ointment at night.  We have to watch her constantly to make sure she is not poking her eye with her hands or toys.  Her eyes require constant attention and constant management.  We have to take her to the ophthalmologist sometimes every week and at least every few weeks.  On nearly a daily basis her eyes look red or opaque and we have to deal with it.  It is like riding a roller-coaster.

Even with all of this, in the last several months there have been a couple of incidents where her right eye became damaged, but it healed up without needing surgical intervention.  Every time this happens there is slightly increased scarring.  These minor incidents will add up over the course of her lifetime.  The truth is that it is a progressive disease that will cause her to suffer decreased vision over time.  How bad will it be?  We really do not know.  It largely  depends on how attentive we, and later she, is to the condition throughout her life.

The uncertainty of it all drives me mad sometimes.  Both John and I struggle with coping every time one of her eyes becomes damaged because we know every single one of these incidents causes further scarring or opacification that will  add up over time.  It causes both of us great stress and anxiety and we are still working on figuring out how to cope.  Of everything we are dealing with, we know that her vision will only get worse and worse despite everything we do to stop it.  I try not to dwell on the future for too long, because there is always hope that some better treatment will be discovered.  Right now, however, it feels like we are on a downhill battle - just trying to stave off the inevitable.  I cannot wrap my mind around the possibility that Eve could be both deaf AND blind someday.  It is just so terrifying and unfair.    

Athena

3 comments:

  1. Dear Athena thank you so much for sharing Eve's (and your) story. I too have anesthetic cornea and reading Eve's journey has helped me greatly. I feel frustrated at times having to apply eye drops every hour and thick lubricant each night. I am 44 and have had this condition since September 2012 after surgery that went wrong. Reading about Eve has put my problems into perspective and I shall remember her beautiful smile each time I start to feel that tinge of self pity. I have other health issues to, but I'm an adult, I understand what is going on with my body/health, not a baby just starting out. Thank you so much for sharing. I really hope a cure or long term treatment is found soon for Eve's sake and others who have this condition. I hope also that Evereceives the cocclea implant.
    One thing that I have found helps me, and I hope you can take some comfort in are God's words found in the book of Isaiah in the Bible;
    "At that time the eyes of the blind ones will be opened, and the very ears of the deaf ones will be unstopped. At that time the lame one will climb up just as the stag does, and the tongue of the speechless one will cry out in gladness". Isaiah 35 v 5+6
    God bless you and your family and especially Eve.
    Siovon. UK

    ReplyDelete
  2. Hello.

    What a surprise to find this blog. I was born with corneal anesthesia 27 years ago, and haven't ever met another person who has it! (besides my sister, whose condition is much more mild). I also have a slight hearing loss, which has actually improved since I was a child.
    I had my eyes stitched at 5.5 months old (they've since been opened partly), and have had a few surgeries to try to reduce scaring/blood vessels. And there have been other instances over the course of my life, which I won't get into now.

    I am now working as an occupational therapist and doing my PhD, among other things. I have been so very blessed by and owe much of my success to the support of my (incredible, amazing) parents, and family and educators with whom I've interacted over the years.

    I want to encourage you in whatever little way I can that there is hope for living a full life with a "disability." And with what sound like wonderful, loving parents, Eve is well on her way (and I imagine has already been able to find joy in her life).

    If it would be in any way helpful to you to talk with me or hear my story please feel free to send me a message.

    ReplyDelete
  3. Hello.

    What a surprise to find this blog. I was born with corneal anesthesia 27 years ago, and haven't ever met another person who has it! (besides my sister, whose condition is much more mild). I also have a slight hearing loss, which has actually improved since I was a child.
    I had my eyes stitched at 5.5 months old (they've since been opened partly), and have had a few surgeries to try to reduce scaring/blood vessels. And there have been other instances over the course of my life, which I won't get into now.

    I am now working as an occupational therapist and doing my PhD, among other things. I have been so very blessed by and owe much of my success to the support of my (incredible, amazing) parents, and family and educators with whom I've interacted over the years.

    I want to encourage you in whatever little way I can that there is hope for living a full life with a "disability." And with what sound like wonderful, loving parents, Eve is well on her way (and I imagine has already been able to find joy in her life).

    If it would be in any way helpful to you to talk with me or hear my story please feel free to send me a message.

    ReplyDelete