Aniridia

About a month ago I took Landon to his 2-month appointment with his pediatrician.  Going into it I was nervous for him to get his immunizations but leaving the appointment, his pain from immunizations (which he actually didn't get that day) would have been welcomed more than the feeling I had.

For several weeks prior to that appointment I had had some concerns about Landon's eyes.  They were completely black and it looked to me like the pupil never constricted but was constantly fully dilated.  I also couldn't get him to focus on me or any other object much and he wasn't following objects regularly.  His eyes also shook a lot (called nystagmus).  I went into the pediatrician that day with these observations but hoped that he would tell me that was normal for newborns.  I was wrong.  When I asked the doctor about it he began to do some basic tests and became very concerned that there was no pupil constriction and he wasn't able to get any retinal reading.  After a couple of calls to local ophthalmologists it was decided that I needed to take Landon to see a pediatric ophthalmologist ASAP because there was a chance that Landon was blind, at least to some degree (not the best thing to say when you don't know for sure).  They couldn't get me in for 3 weeks later which is pure torture for a parent to wait that long not knowing what to expect.  I did, and still do, have the feeling that Landon does see, at least to some extent.  As I left the pediatrician's office that day he told me not to research anything before the appointment because I would just scare myself.  I listened to that advice for one whole day--my sister's, however, did not and they got right on with researching things.

On Monday I took him to Primary Children's Medical Center to meet with the ophthalmologist.  Thanks to the amazing research skills of my sister, I went in pretty much knowing what was wrong with his eyes and was, therefore, prepared with a long list of questions to ask the doctor.  Within a few minutes of testing the doctor confirmed what we had suspected.  Landon has a rare genetic defect called Aniridia which basically means that he was born without irises (the colored part of the eye and the muscle that controls the amount of light let into the eye).  This does not mean that he is blind (thank goodness) but he will need to wear glasses and eyesight generally gets worse over time.  He won't be able to see things as clearly as most people and the colors he sees will be muted--it will be much easier for him to see high-contrast colors rather than colors that are close.  His case is classified as Sporadic since neither Jeff nor I have aniridia so any future children we have won't necessarily have this but Landon's children will have about a 50% chance of having being born with it.  He also has a small cataract on his left eye.  Aniridia makes him more susceptible to cataracts and glaucoma so we will need to keep close tabs on that throughout his life and he will need to be extra careful when he is in the sunlight.  It also puts him at risk for what is called a Wilms Tumor in his kidneys so he will need to have quarterly ultrasounds until he is at least 8 years old.  He had his first ultrasound on Monday and everything looked great so that was definitely good news.  I tried to take some close-ups of his eyes but these were the best ones I was able to get:

They estimate that 1 in 90,000 in the U.S. have this condition (about 2,945 people total in the U.S.) so it is pretty rare and I haven't been able to find a lot of information about it.  Landon is healthy and happy in every other area right now and I hope that this won't be too big of a setback for him but I do know that Jeff and I will be with him every step of the way and we have lots of family and friends that have been keeping him in their prayers and we appreciate it!   I am also going to be working with early intervention to keep him on-track developmentally.  He might have a long road ahead of him and I feel bad about that but I also know that he is an incredible blessing in our lives and we love him.

We will start doing vision testing in 2 months but won't know the extent of it for a couple of years still.  There is a new surgery that they have started doing for this condition but it isn't approved by the FDA yet so there could be even more advancements to help him in the next few years.

If anyone is interested in reading more, here are a few links I have found to be helpful learning about Aniridia, but if anyone finds anything more on this please let me know.
Aniridia Education
aniridia.net

video
aniridia.org