Two Years Later

Oh my goodness...

It’s been over a year since I’ve updated this blog but I hope it’s been of use to those who love us and Avery and those who are wanting to learn more about something that is a very big part of our lives. In the day to day, we actually forget how big it really is but I think that’s a sign that we are all living and enjoying life as we should. 

This past March marked the two year anniversary of when we found out that Avery had Aniridia. It didn’t really even occur to me until we found ourselves at the ophthalmologist this past March for Avery’s preventative pressure check. 

 Two years ago we walked into this office very afraid of what we might hear. With a two month old baby covered up in her little baby car seat, two new parents being very quiet  and afraid…sitting and waiting. I talk about all of this in one of the  previous posts ( over a year ago) so I won’t drag you back through that time but as I watched that confident and brave toddler strut into the doctor’s office this morning…sunglasses on, hat on, eating her snack, just standing there with me as her Dad went to look at glasses for himself…I was overwhelmed with the vast changes that have taken place in the past two years.

We took our seat in the waiting room and the nurses came out- “Is that Avery? Avery- give me a hug! Look how big you are! How are you guys? She’s doing so great.” In a very strange way…it was like going to a party…at 7:30 a.m. at the ophthalmologists office.  It made me think of how these people have become a very important part of our lives in the past two years. I do remember after Avery’s diagnosis, one of the nurses kneeling down to her carseat and saying…”We’re going to watch you grow up Avery”. I have to say- I hated hearing that that day but I find such solace in it now. It takes a village.

One of Avery's photo shoots in November. Needless to say-we didn't get many shots.

As Avery gets older I continue to worry that she won’t be as agreeable as she has been when it comes to getting her pressures checked. Our last visit was a little touch and go and we weren’t sure we would get the pressures without having to put her under anesthesia.  But with a little ipad and a little determination – we did it. I was almost certain this time would be worse. Trying to get a 2 year old firecracker to sit still for anything is near impossible. So the nurse came in and Todd had the iPad all ready set for distraction.

 When it was time for the first eye, we talked to Avery and reminded her what was going to happen. That the nurse would need to touch her eyes a few times (or 10) to make sure that everything was okay.  And Avery just sat there…like a statue on my lap. It was amazing. Then the nurse needed her to face a certain direction, so Todd decided to try the iPad to direct her…Wheels on the Bus app…not the greatest idea.

So Avery of course began dancing to Wheels on the Bus. One of her favorites of all sing-a-longs. We told her she could dance after the nurse was done and she stopped. What? This was a miracle. And within record time for her ever getting her eyes checked- we were done.  The doctor came in and did his routine check and we were okayed for another 4 months.  Not having said one word the whole time we were in the office, Avery said “ All done. OKAY!” and ran for the door. Everyone was laughing.

Avery and I drove separately to this appointment and so we headed back to the house after picking out a very special yellow ball as her reward for being so awesome. It was a quiet ride home since we had all been up since 6 a.m. but I found myself overwhelmed at how much all of our worlds have changed in the past two years, the strength that we have all found in ourselves and how this one amazing child has brought so many wonderful people into her life and into our lives. It takes a village.  I couldn’t help but cry a little thinking through all of this on the way home.  But once we got home the tears were dry.

I went to get Avery out of her carseat and she said, “Mama cry”. She touched my eyes and then put her hand on my face.  It was a moment I will never forget. She is so wise beyond her years...in that soulful heartful way. And I continue to believe that is a gift that we get when we are faced with challenges in our lives and surrounded by love at the same time.

Other pretty big moments this past year

• Our visits this past year to our local opthalmologist and one to Duke Eye Center this past summer, have all been positive experiences. Avery continues to be doing wonderfully. We continue to keep the hat on and sunglasses always when outside.  Avery is a little far-sighted but not to the point where glasses are recommended or to where it’s hindering her development or movement.

• Avery still continues to see her vision teacher every two weeks now. It is so wonderful to have a trusted person looking out for Avery's vision and development along the way. It takes a village. She came to check out our new house just recently and her perspective is always so welcome.  For instance...we have an oriental rug in the living room. She mentioned that this could possibly be challenging to Avery as far as finding objects on the floor, etc. The busy pattern on the rug could make it difficult to identify objects that she might be searching for. It never even occurred to me and I actually felt awful about that. But just as she was talking about the importance of contrast and I had gone to grab a white blanket to lay out on the rug so that we could work through an exercise- Avery had spotted a brown spider on our brown couch. I  could hardly see it myself. I've never been so happy to see a spider actually. This is still something to keep an eye out for. Avery hasn't appeared to be particularly challenged by change in texture or color, etc. at this point.

• Avery is finally able to say “So bright” when it’s too bright inside or outside and she’ll show us to close the curtains or say, “Light off” and she'll even close doors herself. And sometimes she wants lights on when I wouldn’t think that she would. So it’s very nice to be at a stage where she can tell us what makes her comfortable. Very nice is actually an understatement...life changing is more like it.

Avery's 2nd Birthday and seconds away from devouring that cupcake.

The Lego Tower Master.

Avery.

The Artist

The light in our house is generally pretty dim.  However, with the unseasonably warm weather we've had  here in North Carolina, our doors were open today.  Avery loves to hang out in the kitchen- sliding on the wood floor or banging pots and pans.  When we open the kitchen door- a lot of bright light will come through.  Avery of course goes right for it so sometimes we throw on a pair of shades so that she can still play in the light, pick up leaves that have blown inside and pretend go 'bye-bye' on her own.

Although Avery usually wears Julbos sunglasses which have the darkest lenses and fit her face perfectly- she has acquired quite the collection of shades from friends and family members.  It's times like these that we let her wear whichever glasses she chooses.  She doesn't keep most of them on for long but for some reason today- she really liked these.  They would fall down her nose a little and she would push them back on and continue about her business.  She was very serious about it all.

It seemed  fitting that she enjoyed these glasses and the attitude that they inspired because I was in the process of making finger paints for our very first home art project!  I didn't feel like leaving the house to face the madness of after-holiday shopping crowds- so I found a great recipe for making your own finger paints-

1 cup of water
2 tbsp of cornstarch
a splash of milk
Cook over medium heat until thickens and remove from heat.  When it has cooled separate into containers and apply food coloring to each batch depending on which colors you prefer.  Simple as that!

I went ahead and drew a figure on the paper to attract Avery's attention to begin with.  We had fun for about five minutes - her masterpiece was complete and she was ready for a bottle and a nap.  Artists can be so demanding...

 

Visit to the Opthalmologist

Well, as I mentioned earlier, Avery has to visit with a pediatric opthalmologist every three months.  The purpose of this visit is- mostly to check the pressure levels in her eyes, monitoring for any signs of glaucoma.  Since Avery was just three months old - she has always handled this test like a champ!  The nurse will put drops in her eyes to numb them.  This stings a little but Avery quickly forgets about it.  Then the nurse uses a tool to touch Avery's eye which then reads the pressures.  As you can imagine, as Avery gets older- this test will get more difficult because she's not as easily distracted and can get annoyed quite quickly.  ;-)  After the second try by the second nurse to get the reading on Avery's eyes- it was obvious that the bottle and the light chaser were no longer working to distract her.  We were scared that they might suggest that Avery be put under anesthesia in order to get a reading.  But thanks to our wonderful vision teacher, who accompanies us on our opthalmologist visits- we persuaded the nurse to give us a few minutes and try one more time.  Luckily, her teacher had also brought her Ipad ("Eye-Pad")- which is one of Avery's favorite toys ever.  A musical app distracted her just enough to get the readings in both eyes.  The pressures were lower than before and I'm hoping that we found our new trick so that we can prolong any chance of having to be put under to have the pressure test done.  The doctor then came in and was very pleased with what he was seeing with Avery's eyes and gave nothing but a good report.  Our next appointment is in January and in the summer we will meet with a pediatric opthalmologist and glaucoma specialist at the Duke Eye Center. 

Yay Avery!!!

What is Aniridia?

For more information on Aniridia, please check out the following link:
http://www.visionfortomorrow.org/aniridia/?gclid=CJiul57_rqwCFYuc7QodDjjPIg
the facts provided below have been taken from this site.

Aniridia FAQs

1. What is Aniridia?
   Simply put, aniridia is a genetic condition where there is little or no iris.
2. Are people with aniridia blind?
   No. Their vision may vary from 20/40 to 20/400. People with aniridia may be “legally blind” which is defined as vision that is not correctable to better than 20/200. However, this is quite different from total blindness. With 20/200 vision, one can still see colors, lights and the outline of large objects.
3. What can aniridics see?
   It is difficult to say. Because the range of vision is different for each aniridic, there is not one good description to explain what all aniridics can see. All aniridics will have challenges with seeing detail, due to the underdeveloped retina (foveal hypoplasia). Most pediatric ophthalmologists will tell parents of an aniridic child “we will have to wait until he/she can tell us what he/she can see.” This can be very scary and frustrating. An aniridic child’s sight can develop and get better over time.
4. Will their vision get worse over time?
   It can. The non-degenerative parts of this condition are the lack of iris (it will never grow) and the foveal hypoplasia (the underdeveloped retina). These conditions will not worsen with time (other than the “normal” changes that occur with age and are correctable with glasses). However, the impact of the secondary conditions such as glaucoma, corneal pannus and cataracts can worsen one’s sight.
5. What causes the irregular eye movements?
   This is a condition called nystagmus. The involuntary eye movements may be from side-to-side, up and down or rotary. Nystagmus is present to varying degrees in people with aniridia and typically declines with age. It tends to increase when the person is upset, excited or tired.
6. Does nystagmus affect vision?
   Although people with nystagmus are not aware that their eyes are moving, it does make it more difficult for them to focus clearly on details. In fact, they often will find a “null point” which is the point where their nystagmus is the least apparent (see below).
7. What is the “null point”?
   People with aniridia have a poorly developed fovea. In normal-sighted people, the fovea is in the center of the macula and an image will land there when the person is looking straight ahead. Their fovea is where they focus for their best detail vision – such as seeing a freckle on a person’s face. Because a person with aniridia has an underdeveloped fovea, they must find their best area of focus which may be anywhere on their retina. Typically, they will move their head to the position necessary to focus on this spot, consequently slowing their nystagmus and allowing for their best vision. This is their null point.
8. Is any of this correctable?
   With the technology that is currently available, there are many treatment options for the secondary eye complications. First, there are instruments to measure eye pressure to keep glaucoma under control. If glaucoma is diagnosed, there are eye drops and/or surgeries to correct it. Also, there are surgical remedies for the corneal pannus such as stem cell transplants. Additionally, there are iris implants available (in all colors) to help decrease the amount of light that flows into the eye. However, this is not yet FDA approved. Please see Treatments section of "What is Aniridia" Page for more details.
9. How does someone get aniridia?
   Aniridia is a genetic condition caused by an anomaly in the 11p13 section of the PAX6 gene. The genetic problem can be sporadic (happens first time within either the egg or sperm) or familial (passed on from one parent). Unlike most genetic conditions, this is autosomal dominant, meaning it takes only one mutated gene to cause this condition. Aniridia is not contagious. There is a fifty percent chance of an aniridic passing it on to one’s offspring.
10. How can two people without aniridia produce a child with aniridia?
    Both parents of an aniridic can be “normal,” having NO genetic mutation or deletion of the PAX 6 gene. If these two people have an aniridic child, the aniridia is called “sporadic,” The child obtained this genetic mutation or deletion from a spontaneous change in the egg or sperm. The condition existed BEFORE conception. So, there was NOTHING done during the pregnancy that caused this problem. If these two parents should have another child, the chance of aniridia occurring in the next pregnancy is the same chance as any one else in the general population – very slim.
11. If an aniridic has a child, what are the chances of that newborn child having aniridia?
    Unlike most genetic conditions, aniridia is dominant. It only takes one parent to have the mutation or deletion to pass on this condition. Therefore, the chance of an aniridic man or aniridic woman having an aniridic child is fifty (50) percent. If an aniridic should have a child with aniridia, the condition is called “familial” aniridia, because it was passed on by an aniridic parent. Currently, there is the possibility of identifying the mutation or deletion in the PAX 6 gene and using egg or sperm sorting to try to stop the aniridia from being passed on. This technology is very new and not much is known about its success rate.
12. How is aniridia diagnosed?
    Aniridia can be diagnosed by an experienced ophthalmologist with a simple eye exam. There are genetic tests available as well but they are not yet perfected. For more information on genetic testing, contact a qualified genetic counselor. Genetic counselors are generally affiliated with universities and/or children’s hospitals. Since aniridia is also associated with glaucoma, it is important that the ophthalmologist check an infant’s eye pressure.
13. What is foveal hypoplasia?
    The fovea is the part of the retina, in the center of the macula where one would normally focus for the sharpest most detailed vision. In people with aniridia, this area is poorly formed or, in some cases, not present. This is known as foveal hypoplasia.
14. Is aniridia associated with mental retardation?
    In most cases, aniridia is caused by a mutation in the PAX6 gene, and is not associated with mental retardation.  However, in about 30% of cases, sporadic (non-inherited) aniridia is caused by a missing, or deleted PAX6 gene, rather than a mutation.  In these cases, deletion of other genes in the same area results in WAGR syndrome (WAGR is an acronym for: Wilms tumor, Aniridia, Genitourinary abnormalities, and mental Retardation).  Although mental retardation is common in individuals with WAGR syndrome, neither mental retardation nor any of the other conditions is always present.  For this reason, genetic testing is recommended for all infants born with sporadic aniridia.  For more information on WAGR syndrome:  http://www.wagr.org/
15. Should aniridics have ultrasounds to test for Wilm’s tumors?
    Most pediatricians recommend that aniridic children with a deleted PAX 6 be tested for Wilm’s tumors every 3 months, as the possibility is high if there is a deletion. There is debate as to whether children with only a mutated PAX 6 gene undergo ultrasounds. Many pediatricians believe that this non-invasive ultrasound is a safeguard for catching tumors early. Early detection is KEY in fighting these cancerous tumors. Therefore, the consensus is that “it can’t hurt” to get the ultrasounds. As to how often, the safest procedure is to have the ultrasound every 3 months until the child is eight years of age, when the probability of the Wilm’s tumors decreases significantly. At that time, the monitoring is decreased to every 6 months or even annually. There has been a case of Wilm’s tumors being detected in a 24 year-old aniridic patient, so the annual monitoring is a good idea.
16. Do people with aniridia have to go to special schools?
    No. Most children with aniridia function well in a mainstream classroom, with proper accommodations. Please see the Education Tool Box.
17. Are there special services for children with aniridia?
    Yes. Please see the Education Tool Box for a more complete explanation of services, including Early Intervention offerings from birth.
18. Can people with aniridia read books?
    Yes! Although Braille is typically not necessary for people with aniridia, a few may learn to use it in order to give their eyes a rest. Depending on the degree of visual impairment, other accommodations may be necessary. These include large print books, a CCTV, magnifiers, and high contrast materials. Please see the Education Tool Box for more information.
19. Do people with aniridia spend a lot of time going to doctors?
    Yes! It is very important for aniridia patients to closely monitor each eye and to see the correct specialist for each problem (glaucoma ophthalmologists, cornea ophthalmologists, pediatric ophthalmologists, etc). For more information, please refer to the Medical Tool Box.
20. How does the sun affect the eyes of people with aniridia?
    Most people with aniridia are sensitive to light. Imagine a “normal” person with their eyes dilated at an eye doctor appointment. This is how the eye of an aniridic is at all times. Therefore, it is very important for them to wear sunglasses: a) for comfort and b) to protect the retina. One of the purposes of the iris is to protect the retina from too much sun. The retina can be damaged from too much sun exposure if the aniridic does not wear sunglasses.
21. Can people with aniridia go outside?
    Absolutely. With proper sunglasses, they can go anywhere, including the beach!
22. Are there other medical problems associated with aniridia?
    Yes.  Recent research indicates that other medical problems may be associated with aniridia (all types).  These include: glucose intolerance, (thought to be a precursor to diabetes in some individuals)  central auditory processing disorder (difficulty with discriminating and interpreting sounds) decreased or absent sense of smell, and subtle abnormalities in the structure of the brain, such as decreased size or absence of the anterior commisure and/or the pineal gland.  When aniridia occurs as part of WAGR syndrome, there may be medical problems in addition to those listed above. More information on these can be found here:  http://www.wagr.org/
23. Can people with aniridia drive a car?
    Sometimes. The requirements vary by country and by state. They may be required to wear a bioptic device to drive. For details, please see http://www.biopticdriving.org/
24. How can I meet others with aniridia?
    You can start by contacting wendy@visionfortomorrow.org. Wendy is a Board Member of The Vision for Tomorrow Foundation.  Her son has aniridia.

Tools for Daily Life

1. http://www.julbousa.com/ - wonderful sunglasses that even an infant will keep on...sometimes. ;-)
2. http://www.urbanbabybonnets.com/- awesome hats- with wonderful coverage for your two month old and on.

3. http://bit.ly/t23CLG-  we still use this- although it's close to time to transition out of it- made the car so much more bearable.
4. We also bought window tint from a local hardware store and covered her bedroom windows as well as any other room we are in often.  They have also done this at her daycare, as well as filtering the overhead lights.
5.  We made sure most lights in our house have a shade that is under the bulb, rather than over,.
6.  Bamboo shades let it in the perfect light.
7. http://www.ergobabycarriers.com/babycarriers/item/BC2EP/-the Ergo carrier is great because it has a hood which is perfect for when she falls asleep and you can take her glasses off for comfort.

8. We also have a great stroller shade- but I can't find a link for it right now.  It does look a lot like this: http://bit.ly/rPKUBx
9. And again...we just follow Avery- if she takes her glasses off outside for the fourth time in a row and appears to be fine- what can you do? We look for signs of discomfort but if there aren't any- we let it be.
10.  http://bit.ly/u7OWmE - Maybe not this exact one- but in the early days this cheap toy - really helped Avery to get her eyes to focus and follow.
11. And additional sensory toys.  A friend of ours who lives in the UK has used these with his son who has Aniridia. http://www.sensorytoywarehouse.com/
Please- if anyone has any other suggestions- let me know and I'll put it on this page!

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.