Sunday, January 5, 2014

Et Cetera~Part II

One Year Old

I’ve promised to write a series of entries titled “Et Cetera,” and each entry will focus a bit on one of the many manifestations of WAGR Syndrome (, which my daughter Evie has.  Again, I’m not a person in the medical field, so the information I am writing here is just what I have picked up along the way as the mother of a child with WAGR Syndrome.  Yesterday I wrote about the “W” of WAGR which stands for Wilms Tumor.  Today I’ll write about the “A,” aniridia.

Aniridia is the absence of the iris in the eye.  Rather than a blue, green, hazel or brown eye, people with aniridia have only pupil (although there is sometimes a distinguishable start to a iris, and there may be a small colored ring around the outer edge of the pupil.)  This is one of the most obvious indications of WAGR, but it doesn’t necessarily mean the person has WAGR.  Aniridia CAN occur as a hereditary trait in families, but, because that was not the case with Evie, the concern that she had WAGR was more pronounced. 

The iris is not just the colored part of a person’s eye; one of its primary functions is to protect the eye.  The absence of the iris means an individual will be highly sensitive to light, and also at risk for damage to the eye.  The lack of iris makes any surgical procedure more difficult and risky.  Usually, if an individual has aniridia, she may also have a number of other eye conditions.  Because the development of the eye is controlled by the PAX 6 gene, which lies on the 11th chromosome, and the PAX 6 gene is deleted in persons with WAGR, the development of the eye itself did not fully occur.  The eye may also be afflicted by cataracts, glaucoma, or detached retina.  There are just a multitude of critical developments which occur as the eye is forming, which means the “iris” or lack there-of, is not the only complication found with aniridia. 

Raging glaucoma in her left eye
In Evie’s case, for example, we found she had glaucoma pretty quickly.  Her right eye responded to drops, but the left eye didn’t, so we needed to have a number of surgical procedures to try to reduce the pressure in her eye.  A normal eye pressure may be in the teens, but in Evie’s case it was often in the 30’s and would even get as high as in the 40’s or 50’s.  When her pressures were that high her left eye would bulge outward.  We often had thought, “Oh, look how well she’s opening her eyes…” (Because Evie had trouble opening her eyes)…we’d take it as a good sign.  In actuality, her eye was protruding from the pressure within it and it just made it appear as though she were opening her eyes wider.  

Evie also had cataracts, and still does.  The cataracts in her right eye are small and do not obscure her vision.  The cataracts in the left eye did eventually grow and interfere with her vision, but, the glaucoma was actually the biggest issue in that eye for the first year of her life.

Another issue that Evie had with her eyes was that her eyelids hung very low and she could not open them more than about a quarter of an inch.  This condition is called ptosis.  She actually started to lift her right eye open with her hand.  I have several pictures where this is the case.  

Holding her eye open to see Jinxy
Unfortunately, when she was about a year and a half old, (and also, incidentally on chemotherapy), her pressures had gotten uncontrollable in her left eye again.  We had to do something, even though she’d already had several surgeries on that eye.  However, we had gotten to the point where the cataracts would need to be removed if we were going to hope to restore vision.  Then we looked at the fact that she only “held” her right eye open with her hands, she never pulled the left eye open.  Never.  That likely meant that she really didn’t use the left eye.  If she had NEVER used the left eye…not even since birth, there was the likelihood that the BRAIN never learned to use that eye.  Our brains are amazing computers and if an access point doesn’t work, the brain stops trying to access information through that channel.  Her brain probably never used that eye, and even doing surgery to remove the cataracts and then surgery to try to reduce the pressure in that eye, for the fourth time, may not mean restored vision if the brain never learned to use the eye.  

Post eye-lift, A whole new world
We decided at that point that we had enough to deal with concerning her cancer, and we needed to get her comfortable by reducing the pressure quickly.  The cataract THEN glaucoma route would have required us to travel to another state for a procedure, and all of that seemed just too much to think about while she was undergoing chemotherapy.  Pile that on top of the fact that she may have never used that eye, and may never get vision in it, well, the choice seemed obvious to us.  Not easy, but obvious.  We agreed to have a procedure done which would significantly reduce the pressure in her left eye, but would also mean the eventual collapse of the optic nerve.  

At the time of that decision, I didn’t flinch.  I felt that cancer was our biggest concern, and if she was going to make it through cancer I didn’t really feel concerned about her not being able to see with  her left eye.  I don’t regret the decision one bit; but I also am thankful that God placed us in the extraordinary situation he did so the decision was easy for us…I don’t know if it would have been that easy had Evie not been undergoing cancer treatment at the same time.  

A post surgery patch~
So, Evie is legally blind.  She still is at risk for high pressures again that DON’T respond to the drops we give her.  She has a valve still in her left eye that had been placed during one of her surgeries, but scarred over, and we know there’s a risk of her developing dry eye because of the eye-lift her doctor did so she could keep her eyes open without physically holding them open.  At one time, post surgery, we had to give her about 19 drops in one day (a total that is based on having two eyes for drops, a variety of drops and a two to three times a day frequency with which we had to deliver them).  Currently, we have one drop for her right eye to keep the glaucoma under control and we put an antibiotic ointment in both her eyes at night to keep the eyes healthy, free of infection and moisturized.  

That’s our aniridia experience in a nutshell.  It’s not a comprehensive description at all.  Some of our friends with WAGR have had stem cell transplants, other implants, recurrent infections, detached retinas and continued deterioration of their vision.  It’s not an easy future to consider, and we know that we are more than likely going to watch Evie’s vision diminish more over time.  

Aniridia, the “A” in WAGR Syndrome.  It was our first indication that our baby was special, was different, and that our hearts were going to be broken time and time again.  Aniridia has its own “Et Ceteras” that come along with it; glaucoma, cataracts, etc.  Thankfully, by God’s blessing, one of the things that we got in addition to aniridia was Evie.  I wouldn’t trade her for the world.

Tomorrow I’m going to take you to the confusing, and often misunderstood “G”.  Yes, I will tell you about the genitourinary abnormalities that come with WAGR.   (Insert Parental Discretion is Advised graphic and PG-13 rating here).

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