Wednesday, October 15, 2014

Perspective

It seems to me that if you are given the worst case scenario right up front and then are able to come to terms with it, then you can handle whatever may come. That was how it was for me when little Hinjee was first diagnosed with aniridia.  With aniridia the problems are that she lacks an iris in both of her eyes, she has a cataract in one eye, some glaucoma, nystagmus (uncontrolled movement of the eyes) and no developed fovea (responsible for sharp vision).  Initially, before her diagnosis,  I was devastated to think that my little daughter might not be able to see.  Then I realized that it could be so much worse. With aniridia it is the Pax 6 gene chromosome 11p13 that is affected.  It could be just a mutation or it could be a deletion and involve other neighboring genes or chromosomes.  I might have stated this wrong because I still don't completely understand it.  In our case since neither Iron Man nor I have aniridia it is considered sporadic aniridia, which means that it spontaneously started with her, but we still needed to have genetic testing done to find out if  she has WAGR syndrome.

In the weeks that we waited for the genetic testing to be done and results to come in, I read up on
aniridia and WAGR syndrome. There is a wonderful book I ordered that deals specifically with families affected by Aniridia and WAGR Syndrome.

WAGR  stands for W=Wilm's tumors A= Aniridia G= Genitourinary abnormalities R= Retardation (mental) can be mild or severe. I read about children who developed cancerous kidney tumors, had to undergo chemotherapy and even have kidneys removed; the challenges that come from raising a child with a visual impairment from bullying at school to limited mobility to surgeries for glaucoma and cataracts; the less than thoughtful comments made by other people; then later challenges as she seeks for employment, the inability to have children and if she does she has a  50% probability of passing aniridia on to them, and the list goes on.  But I also read inspirational stories of people with aniridia leading very fulfilling lives often in spite of these challenges. 

I came to the realization that I can't do anything about her condition, it will be with her for the rest of her life on earth. What I can do is help her make something wonderful out of the life she has been given and do everything possible to develop and preserve vision she has.  Who knows what technological developments may be available in the future. 

I checked out a great book from the library  

  

I found some very helpful information in it.  One of the very first things I read that gave me a new perspective on the situation was a narrative entitled "Welcome to Holland", written by Emily Perl Kingsley.  She asks the reader to imagine that having a baby is like planning a dream trip to Italy.  You read up on all of the travel brochures, plan out all of the wonderful sights you will vist and things you will see and do.  You take your planned flight to Italy, but when you finally arrive at your destination they announce "Welcome to Holland".  Holland wasn't where you intended to go and all of the plans you made will no longer work for this destination.  The thing is, Holland is a beautiful place also and now you just have to come up with a new itinerary. .  There will still be amazing things to see and do, you just have to change your frame of mind and instead look for the windmills and all of the wonderful things Holland has to offer. 


I was determined to be proactive.  I contacted early intervention in our area.  They are a group of specialists who come in to your home to work with your child to help them reach their developmental milestones.  With Hinjee's diagnosis she automatically qualified for services.  We were put in contact with a vision specialist who comes nearly once a week to work with Hinjee on the development of her vision.  

On a Tuesday, two weeks after the genetic test had been done, I had a message on my phone from the genetic counselor.  She was calling to let me know that she had the results from Hinjee's test and to give her a call back.  It had only been two weeks, we were told it would be closer to six weeks before we would hear anything.  I was a jumbled ball of nerves when I made the call, but I ended up being sent to her voicemail.  I left a message and then waited on pins and needles until she finally called me back with the results. I told myself I would be OK no matter what the results were.  I took a deep breath as she told me that Hinjee did NOT have WAGR syndrome. Her's is an isolated case of aniridia.   I was elated!  No renal ultrasounds every three months.  We will still have challenges with her limited vision, and we won't know how limited that will be until she grows older and can talk to us about what she can see.

A few days after she was diagnosed  I put a status update on facebook which read  Aniridia = My worst nightmare turned reality.  I was so wrong!  The real nightmare would be the inability to remain optimistic in the face of adversity or trials.  I love my beautiful girl, I love everything about her and wouldn't change a thing
!




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