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| 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 (www.wagr.org), 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.
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| 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.
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| 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.
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| 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.
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| A post surgery patch~ |
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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).
