Our Journey So Far

How it All Started

“When you hear hooves, you expect horses, not zebras”

An old saying that dates back to the 1940’s. It was intended to remind doctors to look for the common ailment instead of the rare. It has been since adopted by the rare disease community, calling our kiddos with rare diseases, like WAGR Syndrome, zebras. They are not typical in any way shape or form. We have to expect the unexpected and can’t predict much of anything.

My perfectly, unexpectedly, rare newborn

And my family has adopted it. Little Miss is our little zebra. When she was born, I expected a horse (ok not literally). I expected the normal, happy, healthy baby to be laid in my arms. Ok this isn’t 100% accurate. We knew she had a heart murmur but were told this was common and would heal on it’s on. It did. Life went on expecting normal. We encountered a “normal” tongue and lip tie followed by a quick revision. Again, we continued expecting normal. But deep down, I knew life wasn’t normal. I just had no idea how not normal it really was.

On December 20^th, Little Miss wasn’t even a month old yet, we all went to a “normal” winter holiday party. We were surrounded by friends, having a merry time, and being quite “normal”. That night definitely did not end normal. What was a normal, typical night, took a turn for the worst when, in the excitement of the party, the baby was bumped and we were concerned she had a head injury. We took her straight to the local children’s ER. After a very frightening several hours, we were told that there wasn’t any major head injury but my daughter had a rare condition where she had no iris in her eye and had bilateral cataracts.

My little black eyed beauty

The next few days were a whirlwind off doctors, tests, uncertainty, and google searches. By the end of the year, I was filled with more dread than hope and still had very little idea of what lay ahead of us.

My research had shown that Aniridia, or the no iris condition, was typically caused by a dominant trait that had to be passed down. Layman’s terms, either I or her father had to have it for her to have it. Obviously I didn’t have it or I would have expected it at birth but her father was a bit of a mystery. Not being someone I could contact and me not remembering his eye color at the time, I had convinced myself that he had a mild case and had hid it from me and lied to me. My mind could not even comprehend the other option so I fully blamed the one person who was not there. Again, I still had no idea of how wrong I was.

We finally got into one of the top children’s hospitals in the world to see a pediatric eye doctor specializing in cataracts. That was the first step we had towards answers. Such a difference from the doctors back home who left us with more questions than answers, we actually left with a plan and an idea of what our future might be. It wasn’t the prettiest future but at least it was becoming clearer.

Eye protectors after surgery.

Our new doctor didn’t want the cataracts to remain in her eyes any longer than they had to and he immediately got us booked for surgery. What I didn’t understand at the time, all baby’s eyes are born underdeveloped and the child’s interaction with the world stimulated the growth and development. The cataracts in both of her eyes were blocking that stimulation. Surgery was needed to remove the cataracts and give her eyes the most opportunity for growth and development possible. And when the doctor said he wanted them out as soon as possible, he was not kidding. We were back in a mere week later prepping for surgery. That was one of the most difficult things I have ever had to do. Even with everything else to this point, it’s still the hardest challenge we’ve faced.

The next few weeks were filled with multiple trips to the hospital for appointments and follow-ups. We found many more eye conditions in my child’s delicate eyes. We learned that she has nystagmus which causes her eyes to bounce. She has foveal hypoplasia, or underdeveloped back of her eye. This was a bit of a hit to us. It meant that no matter how much we worked with her and how many opportunities we gave her eyes to develop, she would never see perfectly. I don’t know if they did it on purpose, but never once in the early weeks did the doctors say the word blind.

When they remove the cataracts in babies, they do it just like they do in the elderly, they remove the whole lens. The biggest difference is that they don’t want to replace it immediately with babies. A baby’s head grows so much in the first year of life and so does their eye. An artificial lens doesn’t have the same ability as the natural lens to grow with the eye. Our doctor wanted to wait as long as possible, a year was the goal, before putting the artificial lens implants in. That meant that Little Miss needed some type of corrective lens. A typical corrective lens in someone with glasses only has to correct by 2 or 3 points. Little Miss was going to need a correction of upwards of 25 or higher. Glasses for that size of a correction would have been so thick it would not have stayed in an itty bitty frame for babies. That left contact lenses.

Picture from http://eyepowerkidswear.com/infant-contacts-101/

Most people were shocked that my daughter at the young age of 3 months was wearing contact lenses and the first question most asked was, “but how does she put them in?” The answer, simply, is she doesn’t. I do. And a new doctor, one specializing in contacts, had to teach me how. These were not the soft lenses that most people use. These were rigid hard lenses and had a special way of handling. Our first contact fitting wasn’t just a fitting, it was a lesson to me. It was a major anxiety attack. How could I do this to my poor little baby? She did not like it but could I blame her, she had just had surgery on her eyes and had never seen the bright lights and colors that surrounded her after a lens focused it all in her eye. Oh did I not mention earlier, aniridia comes with major light sensitivity. But after a few lessons and some major frustration, I learned to put her contact in and out like a pro. I felt things were starting to normalize (I had given up on actual normal at this point but had hoped for our new normal). Again I was wrong.

Only two weeks after her cataract surgery, her eye pressure spiked to a dangerous 54. If you don’t know anything about the eye, basically normal (there’s that word again) eye pressure is under 20. Unfortunately for me this happened the same week that Boy Child ended up in the local hospital with a mystery infection in his leg. The eye doctor was so concerned about the number that he would not let us go home until it had lowered at least some. Turns out his magic number was 35. We got her pressure down to 35 and were released for the night. She had a follow up scheduled the next day but I was able to go home and spend the night in a different hospital with my other child. Thankfully, he was fine and released the next day so I didn’t have to worry about him quite as much. That week would not have been possible if I didn’t have the amazing support from my whole family. My mom and dad (who have been divorced for a few years by that point) tag teamed sitting with Boy Child in the hospital while I had to be out of town with Little Miss. My grandmother kept Little Miss AND administered the slew of eye drops through the night so that I could spend the night with Boy Child where I was needed most. Little rest was had by anyone.

That week led to another surgery, and another, and another. By mid-March we had 4 surgeries under our belts and a laundry list of eye disorders and conditions we had been through. We finally had our genetics appointment. As I said earlier, MOST cases of aniridia are from a dominant trait being passed down but not all. That other option was that it was caused by a sporadic deletion on chromosome 11. This option would take the blame off her father but also include so many other health issues. This was WAGR syndrome. Now you can see why, in those earliest weeks, my mind couldn’t comprehend this option.

After we met with the genetics department, discussed in detail both Little Miss’s history and mine, and had a hefty amount of blood drawn from the baby, we were put on a waiting game. I was told that the genetic spread would take a few weeks to come back. I left still feeling very confident that the tests would show nothing and that her father was completely at fault. We continued on with our new normal life.

That was March 23^rd. April 12^th started out pretty normal, just like that day almost four months previously. It became our next earth shattering day. I took the kids to a local music class. I went to the Y for some Mommy time. I went grocery shopping. As I was loading both the kids and the groceries into the car, I got a phone call that changed everything. The phone call I was anxiously waiting for but also dreading.

Little Miss had WAGR Syndrome.

I couldn’t believe it. I had convinced myself that she just had aniridia. I was sure of it. There was no way she could have had WAGR. There was nothing else wrong with her. I mean, how could there be? My sweet baby had been through so much already with all the eye disorders and conditions. But there it was. The nurse explained to me a little of what to expect and what the next step was but I was numb. I was in shock. Thankfully, the kids were already fastened into their car seats. They both rear faced too so I climbed in the front seat and silently cried. I called my mom and told her the news. She cried. There was nothing else we could do in that moment.

At four and a half months old, the fog of denial and uncertainty had lifted. I knew what was to come, or I thought I did. Of course in my research, I learned that it was extremely rare. Even though I just knew she didn’t have it, I still looked up the basics on it anyways. I knew pretty much there were so few cases that no one really knew much of anything in depth on WAGR. I felt totally alone. No one I knew had ever even heard of WAGR let alone been through it. That day was the turning point for us. We had to become the experts. We had to be the ones to watch over this precious child who never asked for any of the challenges that she faced but was handed anyways. After those tears (and honestly, many more to come) I learned a valuable lesson in strength. When life throws you stinky piles of manure, you use it to grow something extraordinarily unique. Our little zebra, and her gorilla family, would stand tall and persevere.