“Nick and I met just down the street from where we live now at a small-town grocery store in northern Indiana. Both of us worked there; he was a cashier and I was his bagger. We dated all through college and Nick proposed during my senior year in college. We moved back to Indiana and I started working towards my 3 years in 2013 for my master’s in counseling.
We got married on August 30th, 2014 and we were so excited to have children!! We talked about starting a family right away and we couldn’t wait! I was pregnant by December of 2014, and sadly we lost our first child to miscarriage on February 17th, 2015. It was heartbreaking and it took us a while to recover from the trauma.
We continued trying for children and we were pregnant by July 2015. We were terrified to lose another baby but truly believed it was in the Lord’s hands. We had our first sweet beautiful little girl, Nadine, on March 25th, 2016. We were so thankful for her. She was an extremely colicky baby and I struggled with post-postpartum anxiety during her first year of life. This was partially hormones and partially circumstances.
At Nadine’s 2 months appointment, my doctor told me she was very concerned about Nadine’s eye development. She began questioning what I noticed about her eyes. I had realized she did not make eye contact or track anything and loved to look at lights. She also would constantly press on her eyes with the back of her hands. I kept telling myself this was normal. I had nothing to compare it to since she was my first.
Her doctor decided to do an in-office eye exam and told me she was very concerned. After the exam, I proceeded to ask her if she thought Nadine was blind. Her response will never be one I 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 sometimes and you want someone to tell you it’s not that? I was trying to do that, but sadly the worst-case scenario was a possibility. After leaving the office in a panic, I sat in my car with Nadine right in front of me. I looked like a crazy person with the biggest grin on my face staring straight at Nadine for a good 30 seconds. Nadine smiled back at me. ‘Okay, she can see,’ I thought, ‘She just can’t see well?’ I was terrified.
I had only met one blind person in my life and I’ll never forget thinking about all of the struggles he must have due to his blindness. Our physician recommended we see an optometrist and that’s exactly what we did. We saw a local eye doctor that simply stated it was too early and requested we bring her back when she was 6 months old. I decided to contact another ophthalmologist in Michigan who specialized in pediatrics and vision therapy. Nadine’s eyes began doing more and more concerning things. I will never forget when she was four months old and her eyes began going back and forth horizontally uncontrollably. At that point, she was also starting to turn one eye in and keep the other one straight; this is called Strabismus.
By the time we saw the second doctor in Michigan, I explained all of my concerns. I told him I thought she had nystagmus and he told me it wasn’t that. He proceeded with the eye exam and said Nadine needed to start vision therapy as soon as possible. His goal was to help her eyes work together to enhance her vision. Once her vision got better, so would her motor skills. We signed her up and I spent every Friday for the next 20 weeks driving an hour away for 30 minutes of VT. When Nadine was 8 months old, she received her first pair of glasses. We were so excited that we paid to have them overnighted to where we were staying for vacation.
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 little to no reaction at all. This was the first time I really knew something was seriously wrong. I asked myself, ‘Is it the glasses?’ Once Nadine finished vision therapy, she was one. She was now diagnosed with strabismus, nystagmus, and she was severely farsighted. She continued to press on her eyes. We needed to do an MRI of her brain to make sure the nystagmus was not due to a brain abnormality or a tumor. As nerve-racking as it was to wait for the results, I was so happy to hear that her MRI looked great–the only downfall was it didn’t give us any answers.
Although I will say I saw subtle improvements, we took a break from VT due to the cost and my concern about what was actually going on. What was the cause of all these things? I wanted to stop trying to handle the symptoms and get to the actual cause. Months later, I decided to get another opinion from another optometrist in Ft. Wayne at a Low Vision Eye Clinic. She specialized in an eye condition called Achromatopsia. She proceeded to tell us that Nadine needed a much stronger prescription. She took her from a +2 to a +8 and assured us that this should help her eyes work together. She also told us Nadine did not have Achromatopsia and she was not very concerned about her vision. Nadine received her new lenses and we saw no improvement whatsoever in her vision.
I was now 8 months pregnant with Vivian. I decided to take a step back and trust that there was nothing seriously wrong…even though my gut told me there was. Nick and I knew she could see but we couldn’t quite grasp what things looked like for her. She didn’t walk until 18 months and when she started walking, we realized that she also had no depth perception. She would fall constantly not knowing where steps were unless there was a change in color. She would touch the ground and learn where there was uneven flooring. Precious Vivian was born on April 5th, 2018. Within weeks, it was obvious that Vivian had the same eye issues as Nadine. She never looked at me, she constantly pressed on her eyes, and it was clear she couldn’t see objects clearly.
So, my journey in finding an answer started again. I was determined and I refused to stop until I got an answer. I 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 some sort of genetic testing we could do considering both girls had the same issues. He went on to explain how the eye world is doing some really great genetic work and he would make a referral for us to have it done. We left the office feeling hopeful but frustrated at the fact that no one was able to tell us anything about what was actually going on. Not one doctor ever listed the underlying cause for their condition.
At this time in our lives, our relationship with the Lord was growing strongly. We were praying fervently for answers but felt peace with Christ all at the same time. It was truly a peace that surpasses all understanding. A few months went by and I decided to get both girls into vision therapy once again in Michigan because I wanted to continue helping them in any way I could. As I waited for Riley’s hospital in Indianapolis to contact me about genetic testing, I continued to dig online for an answer. One day I came across a severe form of retinal dystrophy called Leber’s Congenital Amaurosis. Leber’s Congenital Amaurosis–LCA for short. Never have I heard of this.
I can’t tell you the number of times I typed their exact symptoms in 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. The main symptoms of this disease were Nystagmus, Strabismus, extreme farsightedness, and children pressing on their eyes with their hands. As I continued reading, I read about how it causes blindness and can be linked to other serious medical conditions. Leber’s Congenital Amaurosis attacks two pieces of the retina that we use to see: the cones and the rods. The rods give us the ability to see in low light and the cones allow us to see details and colors. It was obvious that the girls could not see in low light and even more obvious they couldn’t see detail.
One time Nadine and I were out looking for my mother in laws dog and we came across another dog that was lost; a little black dog that was also blind. As I put this little dog in my car, I made sure it stayed in the front seat because Nadine was terrified. I put my black purse in the middle of the two front seats and Nadine began screaming and pointing at my purse telling me the doggy was going to get her. As I continued to read, I found out there are currently 19 different mutations that cause LCA. I also read it’s an inherited retinal disease and each parent had to pass one bad copy to the child. If both parents have one bad copy, it makes every pregnancy a 25% chance that both bad genes will be passed. I didn’t want to tell my husband. I didn’t want to break his heart. I was so afraid of how upset he would become.
I remember thinking, ‘How do I tell everyone who loves them this?’ ‘How do I break the news that Nadine and Vivian have never seen detail and never will?’ ‘How do I tell them they will continue to lose all of their vision?’ I was terrified. I immediately began thinking of all of the things they will never see. They will never see their own children. They won’t know what they look like on their wedding days. They won’t know what their husband looks like. They won’t ever see a star. They won’t ever know what me or what their daddy looks like. They won’t know what they look like. This list goes on and on and on.
When my husband got home, I told him and he was stunned. He was in denial that it was actually LCA because we didn’t have confirmation from a doctor. Not long after, I received a phone call from Riley’s letting us know they were calling to schedule genetic testing. About a month later, we drove down to Riley’s where they told us the first thing they wanted to do was an ERG. This measures the electrical response of the light-sensitive cells in your eyes. They said they wanted to do this to rule out something called Leber’s Congenital Amaurosis. I wasn’t surprised. This was the first time a doctor had mentioned it and that it could be a possibility. The ERG took about 20 minutes and then we met with another ophthalmologist who after examining their eyes, told us she believed the girls had a form of retinal dystrophy and she would run two very large panels for genetic testing. One was a Retinal Dystrophy Panel and one was a Nystagmus Panel.
Days later, she called me and let me know that my girls’ ERG results were in, and unfortunately, they were both flat. This affirmed their diagnosis of LCA. Once again, I wasn’t surprised. Now we needed to know what gene mutation it was that they have. Once the genetic testing was done, which just consisted of them sending it to our house through the mail and me swabbing all of our mouths and sending it back in, we had 8 weeks of waiting. During these 8 weeks, I found out that on December 19, 2017, the FDA passed a prescription gene therapy treatment called Luxturna. This stops children from going blind and improves their vision. This only works if the child still has enough cells left in their eye, so sadly this wasn’t successful for older teens or adults who received Luxturna. However, Luxturna only treats ONE of the 19 mutations that cause LCA, a mutation called RPE65.
They take a good copy of the bad gene and insert it into both eyes. It is an outpatient procedure. It’s truly amazing. I have heard many stories from the families whose children received this and it’s incredible. These kids talk about being able to see stars for the first time and being able to play on a playground. They went from being blind kids who were incredibly limited to having sight. I begged God for my girls to have RPE65, the one mutation with a cure. On August 19th, 2019, Nick missed a call from the genetic therapist with our results. By this time, I knew a whole lot about most of the mutations and which ones caused other medical issues and which ones didn’t. Nick didn’t receive her voicemail until past office hours, so I spent most of the night crying and praying.
On August 20th, 2019, our genetic therapist called me and said, ‘Nadine and Vivian have a mutation in their CRB1 gene causing them to have Leber’s Congenital Amaurosis.’ As much as we wanted RPE65 due to there already being a gene therapy for it, I was grateful that their mutation does not cause other medical issues. CRB1 is rare with only 300 cases in the US. A CRB1 mutation will cause my girls to lose all of their vision except possibly some light perception by the time they are in their teens. We need funds to continue research in hopes of developing gene therapy before my girls are past the age of gene therapy working; we are on a time clock.
They have done it before-they can do it again. The Curing Retinal blindness Foundation was founded by a lady named Kristin Smedley who also has two children affected by a CRB1 mutation. Money donated to this organization goes straight to the hands of the doctors working hard to create a gene therapy for those affected by CRB1. They are doing some incredible things, but we need funds to keep the ball rolling. We are currently funding Peter Quinn, a researcher at Columbia University Medical Center, who is developing a gene-editing technique (using CRISPR instructions) that can help save Nadine and Vivian’s eyesight and others impacted with this rare disease. Another mutation, CEP290, causing LCA is currently in clinical trials using CRISPR.
Nadine is now four and started pre-school. She has an IEP and at the very first meeting, I was told she needs a cane and will begin learning Braille. As much as I have accepted their diagnoses, hearing ‘cane’ and ‘Braille’ hit me like a ton of bricks. Vivian will soon need a cane as well. I don’t know what the future looks like for them, but we have great hope and we serve a great Lord. I never thought I would have two blind children.
I never would have thought ‘I can do this.’ I look for the joy in their condition. It’s been amazing to share our story with so many other people and point them to our strength, Jesus Christ. He is the reason we live joyfully every single day. It is uncertain whether Nadine and Vivian are healed in this lifetime, but they will see clearly in heaven one day.”
This story was submitted to Love What Matters by Brooklyn Spirito from Indiana. You can follow her journey on Instagram and support their GoFundMe. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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