Thursday, November 10, 2011

The Beginning...

I’m not sure if everyone who knows of our sweet Avery – knows that her eyes are any different from anyone elses but when Avery was just two months old she was diagnosed with a rare genetic condition called Aniridia- which basically means- without iris.  I could go into the medical terminology and the reasons behind such a condition but I will let you look that up yourself if you’re interested. This site is mostly to inform you of our journey and for all those parents out there who have just found out that their infant or child has Aniridia- and wonder how you go about living life and protecting your child and keeping a hold of yourself- all at the same time.
Avery was born on Janurary 21, 2011.  She was a peanut at 5 lbs 4 oz.  She arrived, after a 40 hour labor- into a warm tub of water surrounded by love and warmth in Mission Hospital, Asheville, NC.  She was perfect, as she had always been since the day we found out I was pregnant.  And I have to say- as any parent of any child who is born into this world challenged in any way- our children are perfect.  They are just who they’ve always been – perfectly amazing teachers who open our minds and our hearts in everything they do.
 In the first month,  Avery didn’t open her eyes very much.  I had often heard of that bonding moment between mother and child when your child looks into your eyes  during a midnight nurse- but I started to notice that we never had that.  I started to notice that I couldn’t tell what the colors of my child’s eyes were.  I thought that even though her father has blue and I have green that she just had very dark grey or brown eyes but I couldn’t find a pupil- only a reflection of myself.  We went to the doctor but Avery cried every time she was there and in afterthought- it was very bright in there.  I expressed my concerns but the doctor, not being able to see Avery’s eyes because she was crying so badly, explained that her eyes were still developing  at this time and not to worry.  I was still worried.  I came home and tried to assure myself that all was well while searching the internet for things like “baby- large pupil”’ or “baby- black eyes”. 
Two weeks later Avery woke up with conjunctivitis.  It got progressively worse throughout the morning and we went back to the doctor.  I brought it up again- that something just wasn’t right.  And Avery- after several visits to the doctor- finally wasn’t crying.  The doctor could see her eyes completely.  It got very  quiet.  She tried to stimulate her eyes with the pen light but no reaction from Avery.  She left the room for what seemed like an eternity.  I knew right away, something was wrong.  When she came back all that she could say was- “I’ve made an appt. for you with a leading pediatric ophthalmologist in Asheville for tomorrow afternoon at 2”.  She said that she did think something was wrong.  A month or so later she mentioned that she had no idea what was going on with Avery’s eyes and  that she had never seen such a thing before and probably will never see it again.
I called Todd (wonderful dad/wonderful partner) and the fear set in and at the same time I strangely felt ready for whatever they were going to tell us because I finally felt like someone noticed what I’d been noticing since the beginning.
  We went to the appt. the next day-we met with the nurse first and expressed our concerns.  She looked at Avery’s eyes and immediately called it- “This looks like Aniridia.”  What?  We had never heard of such a thing.  She explained and we waited to see the doctor.  To make a very long story short- he confirmed and then he explained to us about the WAGR syndrome and that we would need to get genetic testing done to determine whether or not Avery would have that. He said that we would need to make sure she had a sunhat on at all times and sunglasses but at two months that would be difficult- blah blah blah- that’s really all I began to hear – as our baby cried in the hallway with a nurse who was thinking that it would help us focus- to take Avery outside while the doctor explained things.    He also said that we would need to see him every 3 months to check for glaucoma- which we are still doing.  Google. Google. Google.
I have to say again- that when we found out the diagnosis- I was mostly focused on her eyes and not the WAGR syndrome.  I was relieved to finally know what my daughter was going through, why her eyes looked different, why we haven't made eye contact and that bond that mothers speak of when their baby first looks into their eyes- I felt it then- when I could see my daughters spirit and her reality.  The understanding that we have had since that day is priceless.     
Our families have been so supportive and wonderful and it’s truly amazing how communities can come together and pray and manifest wonderful things.   We also- through Google Google Google- have met wonderful families- who have gone through what we are going through- who opened their hearts and their stories to us and without them- none of us would be as confident and stable as we are.   In the first days, these people became our support and if you are a family who has a new member diagnosed with Aniridia, please seek support on the United Families of Aniridia facebook page or Yahoo group.  So many wonderful people willing and open to assure you that even in a 1- 90,000 chance of your child having Aniridia (if someone in your family does not have it)- that you are not alone.
We dealt with the immediate- Avery would have extreme light sensitivity – with only having pupils she doesn’t have the ability to regulate the amount of light that comes through her eyes.  So- how do you protect her outside and inside?  We got lots of advice from our new friends out there and please check out our Aniridia Tools Page- for everything that we used in the beginning and even now.  I have to say that Todd and I are huge outdoor people and it took a lot of time to learn and be comfortable with being outside again.   We still don’t do it as much as we did but we’re getting there.
We met with a local geneticist at Fullerton when she was three months.  The geneticist was happy with what she was seeing in Avery and felt that the signs of WAGR were not there.  The WAGR syndrome- stands for Wilms Tumor (a kidney cancer), Aniridia, Genital Deformation and Retardation.  We also had an ultrasound done of Avery’s kidneys which came back clean.  They took Avery’s blood- which was a horrible experience with an infant- and said that in two months we would get the results back.  We got the results back in a month and as confident as I was that WAGR was not our concern- when I was informed that she did NOT have it, I nearly collapsed with relief- realizing that it was a huge worry for all of us.  
And then what?
Life started to happen again.  I was supposed to go back to work in a month of finding out Avery’s diagnosis.(This was very difficult)   Before Avery was born- I had chosen a daycare for both children with developmental challenges and children who were developing “typically”.  We wanted Avery to be in an environment where she could learn from those who were very different from her.  It boggles my mind to this day that after securing her spot in the infant room- we learned that she would be one of the children who may face challenges that most of us don’t.   Her teacher is amazing with her and a supreme caretaker of her – and as I have said so many times- she is exactly where she should be right now.  As a working mom, you can’t possibly ask for more…other than to be home with your child. 
Avery has seen a vision teacher through the Governor Morehead Preschool of NC since she was 3 months old.  She was about four and a half months old when her teacher used a light chaser with her and Avery finally followed the light with her eyes.  Todd and I were beside ourselves with joy and truly it was from that day on that it seemed Avery’s vision was improving.  We do think that Avery couldn’t see much until this point…which would explain her sensitivity to sound, her love of music and her awesome rhythm.  Now- it’s hard to tell what she can’t see.  She is very exact when picking anything, any size up.  She can see a face from across the room and smile back. Brightness remains and always will be a problem for her.  But of course, we won’t truly know all of it until she can tell us.  So the rest of it is just some beautiful Avery adventure.  I wouldn’t rather be on any other one.   We keep our minds open and follow her along the way.  We are lucky and we are blessed.   

1 comment:

  1. Thank you so much for sharing your story. My daughter is 2 1/2 months and I am still learning about her condition. Reading about others experiences are helping so much!