Wednesday, August 27, 2014

Aniridia

Before yesterday I had never even heard of Aniridia.  It now consumes my life.

Last Friday my sweet little Hinjee had her 2 month Dr. visit.  Everything was going well until Dr. H asked if she was exhibiting a social smile.  I said yes she does smile a lot and it is more than just gas.  She asked if she was making eye contact and responding to my smile.  I thought more about it and realized that she had never really made eye contact with me.  Her eyes still fluttered around quite a bit and more likely she was smiling in response to my talking to her.  She examined her eyes and found that she wasn't tracking and didn't really respond to the light thing-a-majig that was waved in front of her eyes, even with the lights turned out.  She recommended that we see a pediatric ophthalmologist.  She scheduled the appointment for the following Monday afternoon.

I went home concerned.  I discussed things with Iron Man and we did our own flashlight test and concluded that she would be fine.  I would go to the appointment and we would find that all was well.  Monday came and Iron Man decided at the last minute to come with me.  I am so glad he did.  When we got there Dr. R indicated that the fluttering of the eyes is normal up to 3 months.  I breathed a sigh of relief.  Then she looked a little closer with her light and told us that Hinjee has what is called Aniridia.  I had no idea what she just said.  It was like she was speaking a foreign language.  "Ani what?"  I asked.  She repeated it and explained what it meant  An= without  irid= Iris.  Hinjee was born without irises (the colored part) in both of her eyes.

After that it all got fuzzy for me.  I just remember them trying to do an eye exam, which was rather difficult for them.  Hinjee kept popping off the little devices used to keep her eyelids open, she has very strong eyelids for a little girl.  What their initial exam indicated was that Hinjee has a little glaucoma in one eye and a small cataract.  They didn't look much further because they wanted to do an exam under anesthesia and possible surgery depending on the pressure from the glaucoma.  It killed me to even think about her going under anesthesia at only 2 months old.  Surgery was scheduled for Thursday and we left the office with a red folder containing papers which explain the rare genetic disorder we would now learn so much about, instructions for outpatient surgery at Primary Children's Medical center, and a card with numbers to call if we have any questions.  I felt overwhelmed.

What I learned about Aniridia scared me.  It is very rare only about 1 in 50,000-100,000.  So much for local support groups.  It occurs during the 12th to 14th week of pregnancy due to a mutation in the chromosome 11p13 section of the PAX6 gene.  If you have no idea what that means don't feel bad, neither do I.  All I know is that it isn't because of something I ate or didn't eat or actions I did or didn't do during pregnancy.  Aniridia can be isolated or can occur with other symptoms such as kidney tumors, genital abnormalities and or mental retardation.  When I read those words my mind shut down, my heart broke I could not process it or rather refused to.  Not my sweet, beautiful girl.  I couldn't imagine it, nor did I want to.  I felt sick to my stomach.  This is how I feel every morning when I wake up.  I feel like I am waking up to a nightmare, which is now my reality.  Some days I can handle it better than others.

We won't know for awhile which type of Aniridia she has.  I still can't name and explain the different ways Aniridia is inherited so I won't even bother.  We will undergo genetic testing to determine it and then we will have a better understanding how much she will be affected.  We will also know more when the exam is done tonight (they moved it up a day).  Our lives for the next while will pretty much revolve around Dr. visits, visits to specialists, renal ultrasounds (to detect kidney tumors) etc...I hope things get easier and more manageable with time.  I believe that there is a special purpose for her life.  We are trying to remain optimistic and know that this is all part of Heavenly Father's plan for her life.  She was blessed that in her lifetime she would see "amazing things"  and I believe that .  She is the sweetest baby, so happy and good natured.  I think that this will be much harder on me than it will be on her and I so wish I could take her place.  For now I will try to just take it one day at a time and hope and pray for the best.