Noah’s RP Diagnosis Story

Blindsided by Blindness: Noah’s Diagnosis Story By Karen Tantzen

When my son was four years old I found out he was going blind – and I had no prior clue that anything was off with his vision.

Our story starts in September of 2015. I had taken my eldest son, Noah, to his pediatric ophthalmologist in Baton Rouge, Louisiana for a follow up visit. His acuities were off and he’d been prescribed a pretty strong pair of glasses the previous winter. The past spring, his doctor still wasn’t happy with how much Noah’s visual brain had developed since he’d begun wearing glasses, so he’d asked us to come in for an extra check up.

At this appointment, though, Noah’s acuities weren’t what concerned the doctor. The issue was his retinas.

“I’m seeing some retinal deterioration. It wasn’t here when he came in this past May,” said Dr. Black. “I”m going to have our other doctor look at his eyes right now.”

I tried keeping Noah, who dislikes eye exams, calm while also watching his 1-year-old brother and a friend’s 4-year-old son whom I was babysitting. Three boys under five. My hands were definitely full that afternoon.

The other doctor, also Dr. Black (he was Noah’s doctor’s nephew), had the same concerns. I asked him, “Is he going to go blind?” “I don’t think so,” replied the second Dr. Black.

That quick bit of quasi-relief I felt was immediately followed by confusion.

“Your son has retinal dystrophy,” said the original Dr. Black, who had come back into the exam room. “I’m referring you to a retina specialist. Noah may need to go to New Orleans for some tests and be sedated for those tests.”

Again, I asked about the big elephant in the room – blindness.

“Many people with retinal dystrophy still have useful vision,” Noah’s doctor told me. “Useful vision,” I thought. “That sounds good.”

We left the office with a referral, I dropped my friend’s son off with his mother, and I called my husband. I wasn’t too worried. After all, Noah’s doctor said most people with retinal dystrophy had some useful vision.

Waiting for Answers
We had to wait a few weeks to see the retina specialist, whose main clientele was the elderly suffering from age-related macular degeneration. We definitely stuck out like a sore thumb as we waited in her office for our appointment, which was running 45-minutes behind.

Once Noah’s eyes were dilated, the retina specialist came in and tried to look into them for about 10 seconds. “Sorry, kids are hard,” she said. “For insurance, I have to try to look at their eyes while they’re awake. But now that I can’t, we can schedule a sedated eye exam.”

We had to wait another few weeks for the sedated eye exam, during which time I started Googling “retinal dystrophy” a lot. There was so much broad information out there. I was feeling an odd combination of concern and hope.

News I Wasn’t Expecting
We arrived at 6:00am on an October Friday morning for Noah to be sedated for his eye exam. That morning, my main concern was Noah being put under. I was worried about the strong medication and how he’d react.

When the medical team wheeled him back, my husband and I went into a waiting room. We weren’t there for long when the retina specialist came in.

“I’m sorry, but your son is going to be legally blind,” she said. “I’m so, so sorry.” I started crying. Nowhere up to this point had anyone warned me that my son would be legally blind.

“It’s going to be okay,” said the retina specialist. “Your son is going to learn Braille. He’ll just be learning a new language.”

I was so shocked and so confused. I didn’t know what to think. My husband called our pastor, who assured us of God’s presence and comfort. Then my husband had to go to work, and I took Noah home where his grandparents, who were visiting from out of state, were watching his little brother. We stopped by our favorite breakfast restaurant to get pancakes first. I cried throughout the meal, and for most of the next three days.

The Official Diagnosis
Noah’s retina specialist had explained to us that Noah needed an ERG, which would help us diagnose the exact retinal disease we were dealing with, to give us more information about his prognosis. So in October of 2015, we headed down to New Orleans Children’s Hospital for the test. In November, we received the results, and it was one of the eye conditions I had researched and was fearing the most: Retinitis Pigmentosa (RP).

Noah’s eye condition is rare, especially for children. It’s a form of retinal dystrophy that leads to blindness not by making things too blurry, but by causing night blindness (which basically means Noah can’t see an object if light isn’t directly shining on it) and narrowing a person’s field of vision, taking away all peripheral vision until eventually all the person sees is a tiny spot in front of them, as if they were looking through a straw or even a coffee stirrer.

Most people with RP have no symptoms until they’re at least in their mid-30’s, and even a diagnosis before 40 is considered an early one.

In the Spring of 2016, we learned that Noah’s case of Retinitis Pigmentosa is caused by the CRB1 gene, which is an extremely rare, early-onset, and very aggressive form of RP. He’s expected to have no usable vision by the time he’s 18. There’s no cure. And even with the genetic treatment Luxturna for a related disease, we still don’t know if an effective treatment will be found in time to reverse his condition before he goes blind, or if one is created, if it’ll be affordable (Luxturna, which treats one genetic cause of RP costs $425,000 per eye, and insurance doesn’t cover it). Without our permission, Noah’s doctor explained gene therapy in kid terms to him, and Noah’s told us if gene therapy becomes available for his condition, he wants to do it.

CRB1 Retinitis Pigmentosa is autosomal recessive. This means my husband and I are both carriers of the recessive gene, which has lied dormant in our families for generations. A person needs two copies of the mutated gene to be affected. Noah inherited both mutated genes from my husband and me, which gives him his diagnosis. Our younger son, Declan, has a 25% chance of having RP, a 50% chance of being a carrier of the recessive gene, and a 25% chance of not being affected in any way.

So far, Declan shows no signs of RP, including the “after the fact” symptoms we now realize Noah had displayed his whole life, such as not being able to find something he had dropped on the floor right and was sitting right in front of him.

Noah is currently 8-years-old, and his estimated field of vision is 20 degrees, which puts him right at the level of being considered legally blind. We’ve noticed more visual deterioration since he was given that field of vision diagnosis, but the tests to pinpoint field of vision are hard for kids to do so for now we just accept that estimated number of degrees.

He’s a day student at our state’s school for the blind, where he has wonderful teachers who’ve taught him so much. He’s a whiz at Braille, and in 1st grade he won 3rd Place in our state’s Braille Challenge (he was sick with the flu for the Braille Challenge when he was in 2nd grade and didn’t get to compete). Noah loves math, learning about animals, and playing musical instruments. He also loves playing video games and says he wants to be a YouTuber when he grows up.

Finding Peace and Acceptance
It took me a while to grieve and finally accept Noah’s diagnosis. During that time, there were many nights I cried myself to sleep begging God to take my vision instead.

But networking with other parents of blind children, as well as being educated by blind adults I’ve met on Facebook, has helped me realize that everything’s going to be okay. Blindness is just a part of who Noah is. It’s neither good nor bad, it’s just the way God made him.

If you’d like to keep up with Noah, I encourage you to like Noah’s Journey with Blindness on Facebook.

Noah's 1st Day of School
8-year-old Noah standing in front of his front door on his first day of 3rd grade. He is wearing his school uniform, which is a light blue polo shirt and khaki pants. You can see the shoulder straps of his light green Minecraft backpack that he is wearing that has colorful Minecraft characters on it. Noah is holding a teddy bear-sized stuffed monkey with his arms, which is covering chest, abdomen, and thighs. He uses a white cane to navigate, but he’s not holding it in this photo.

 

Do You Have a Diagnosis Story to Share? 
If you have a diagnosis story that you’d like to share, please let me know. Let’s navigate blindness together.

Related Posts: 
Click here to read another diagnosis story: Kai’s RP Diagnosis Story
Click here to read about acceptance: A New Way to See

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