Journey to a Diagnosis of Leber Congenital Amaurosis

An image of the Spirito family outdoors, Mom and Dad with their arms around two young, smiling girls wearing pink glasses.

Editor’s note: Brooklyn and Nick are raising two girls with Leber congenital amaurosis, an inherited eye condition characterized by a lack of activity in the retina. Today, they share their long road to receiving diagnoses. If you, too, have a child diagnosed with an eye condition, please know that 1) You are not alone, 2) It is okay to grieve, and 3) An eye condition is not a sentence to an isolated, unhappy life.

Hi, we are the Spirito family. My name is Brooklyn, and my husband’s name is Nick. We have two little girls, Nadine (age 6) and Vivian (age 4). The journey to their diagnoses was a long and hard one.

It was at Nadine’s two-month appointment when everything changed. As a new and anxious mom, I laid little Nadine on the doctor’s table to be examined. The pediatrician began examining her, and I noticed that she was focused on her eyes. She wasn’t just looking at them; she seemed fixated on them. I sat watching her, trying to figure out what it was that she saw.

A Question

I asked the doctor, “Is everything ok?” And she replied with questions, “What do you notice about her eyes? Anything you’re concerned about?”

I told her that Nadine hadn’t really looked into my eyes yet and was always looking at lights and pressing on her eyes. The worst-case scenario (or so I thought then) came into my mind, what if she is blind?

I immediately asked my doctor in order to calm my fear. She looked at me; her response would be one I will never forget. She said, “It’s too soon to tell.” I wasn’t expecting that. You know how your mind goes to the worst-case scenario, and you want someone to tell you it’s not that? I was trying to do that, but my fear became a possibility.

The Beginning of a Journey

Little did we know, that day was the start of a three-year journey of receiving a diagnosis. Nadine’s eyes began doing more and more concerning things. I will never forget when she was four months old, and her eyes began uncontrollably darting back and forth horizontally (this is called nystagmus). Meanwhile, one eye turned in, and the other remained straight (this is called strabismus).

The first optometrist we saw told us to come back when she was six months old and assured us we had nothing to worry about. We didn’t want to wait! We saw an ophthalmologist who specializes in pediatrics. He prescribed Nadine glasses. You’ve probably seen those Facebook videos of babies who get glasses, and when they put them on for the first time, their eyes light up, and they have the biggest smile. I truly wish this would have been Nadine’s reaction. But unfortunately, it wasn’t. Nadine had no reaction at all.

We eventually received five different opinions from different eye doctors, multiple times of being told that it’s just nystagmus or strabismus, and, “She is just severely farsighted.”

After hours of research and countless drives to Michigan for vision therapy, I finally accepted nothing was majorly wrong, and it was time to move on. However, we kept asking ourselves why the glasses didn’t help much and why Nadine would easily mistake objects for other things. Why was she continuously pushing on her eyes? At this time, I was eight months pregnant with Vivian. We decided to take a step back and trust that there was no serious eye condition…even though my gut told me there was.

Sisters with Identical Symptoms

It was evident that Nadine had vision issues from two months on, but it wasn’t until Vivian was born with the same eye issues that made us realize that this had to be genetic. Our journey to an answer resumed.

We called a well-known pediatric ophthalmologist in Indianapolis. He saw both Nadine and Vivian. He did not seem too concerned about the girls and their eye issues. At the end of the appointment, I asked him if there was genetic testing we could do, considering both girls had the same issues. He explained how the eye world is doing some tremendous genetic work, and he would make a referral for us to have it done.

As we waited for Riley’s Hospital for Children in Indianapolis to contact us about genetic testing, I continued to dig online for an answer. One day I came across a severe form of retinal dystrophy called Leber congenital amaurosis–LCA for short. Never had I heard of this.

Nadine and Vivian hugging at the beach

A Diagnosis

I can’t tell you the number of times I typed their exact symptoms into Google to see what would appear. Never did LCA pop-up. Not once. As I continued reading more and more about LCA, tears began to fall down my face, and I felt physically sick. The world got quiet, and my heart sank. I knew my two little girls had this. They were going blind.

The main symptoms of this eye condition are nystagmus, strabismus, extreme farsightedness, and children pressing on their eyes with their hands. We knew it was LCA. After a flat ERG and genetic testing, both girls were finally diagnosed with a rare form of retinal dystrophy called Leber’s congenital amaurosis due to their CRB1 gene mutation. We received this diagnosis on August 20th, 2019. Nadine was three at the time, and Vivian was 1.

A CRB1 genetic mutation is rare, with only 300 cases in the US. Leber congenital amaurosis impacts the cones and the rods. The first thing children lose is their night vision and their ability to see detail and color. And eventually, they lose it all. It isn’t clear what age this will take place, but we have been told that it can happen quickly or over many years. It tends to vary for each child.

This disease is recessive, and the chances of Nick and I both passing our mutated copy of CRB1 was 25%. We saw a few retinal dystrophy specialists who were honest about the diagnosis’s severity and meaning. They told us the stark reality that both of our children will one day see nothing but have some light perception. They also shared that there is currently no cure for this specific mutation, and it is best to accept it and get them started in low vision/blind services.

As you can imagine, this changed our lives. It flipped our world upside down. We never imagined having children who are blind and, if we are being honest, we felt completely lost. But what amazes us is how resilient our girls are. Having low vision doesn’t seem to bother them at all, and it is all they have ever known. They live as though they have no limits, and we enjoy watching them grow, learn, and thrive.