For most of Evan’s little life, we have known one thing for sure: he is a marvelous mystery. The first question many people ask us (not always in these exact words) is, “What is his diagnosis?” To which, our answer has always been “We don’t know, but he sure is cute.”
It’s funny to me how much it has felt like the world has cared more about Evan’s diagnosis than we have. We often joke that everyone’s so worried about what his genetic syndrome is while we’re over here questioning where his blonde hair came from. I think it speaks a lot to the world we live in that everyone just wants answers and labels in order to make sense of what makes them uncomfortable or scares them. But does a name for something change what it is? Before you learned to read or speak, you knew what things were around you. You knew the sky. You knew the grass. You knew the wind. A label did not change what those things were.
So here I give you one of the mantras of today’s world: it is what it is. Evan is who he is: wholly, perfectly, and wonderfully made in the image of his Creator. His genetic diagnosis is not who he is. His medical needs are not who he is. His developmental delays are not who he is. His feeding tube is not who he is. His need for supplemental oxygen, a helmet, and ankle braces is not who he is. Who he is is this: a child of God.
That needed to be said before I could give you this information. It needed to be said because I, like so so many other special needs parents, have felt the hurt that comes with people only seeing my child as “what is wrong with him.” I stand firm in that there is NOTHING wrong with my child. God did not make a mistake when He created my sweet boy. He did not make a mistake when a tiny gene mutated from “the norm.” His body was made on purpose for a purpose.
Evan had his first genetic test when he was still growing in my belly. It was called an NIPT test. The doctors ran this test because we opted out of an amniocentesis due to the risks it would place on Evan. This simple blood test only tested for four things: gender, Trisomy 13, Trisomy 18, and Trisomy 21. We were pretty sure it was going to come back negative for all three chromosomal syndromes. It did. Of the few people who knew what was going on with our pregnancy, some thought that this meant Evan was “fine” and just a little small. We knew otherwise. We knew in our hearts that our boy was going to be different– that what the doctors were telling us was right. He was special– set apart.
When Evan was born, we got more genetic testing done while he was in the NICU. They did a chromosomal microarray panel and a micropthalmia panel. The first test looks for deletions or duplications of the chromosomes, abnormalities of the chromosomes, or changes in the structure of the chromosomes. This is kind of the first tier in genetic testing from my understanding. This is also where most of the general public’s knowledge of genetics stops. Evan’s chromosomal microarray came back normal. A micropthalmia panel looked at about 21 specific genes associated with the symptom micropthalmia (small eyes). This test also came back normal.
This meant that Evan’s genetic anomalies were likely caused by a deletion, mutation, or duplication of a very specific gene within one of his chromosomes. Testing for this is complicated when you don’t know what you are looking for. If a patient presents with classic symptoms of a particular genetic disorder, a doctor can test for that specific gene. However, when you have a patient like Evan with global delays and all systems affected, it is very difficult to try and pinpoint which genes to test.
This was the hardest thing to try and explain to people. They’d ask if Evan had genetic testing done and we’d say, “Yes, he’s had some, but it has all come back normal so far.” Then they would assume that Evan must not have a genetic disorder and that he would eventually “grow out” of his medical complexity. We’d try to explain what we’d been learning about genetic testing. It’s so much more complicated than we ever thought. There are literally thousands upon thousands of genetic disorders and some that haven’t even been discovered yet. Geneticists are learning about genes so much faster with the technology available today, so most genetic disorders don’t have names yet. No one doctor is devoting his/her life to the study of a particular genetic condition. Okay, some are, but there isn’t one for every single genetic mutation that’s been discovered. It would be quite literally impossible.
Based on some of Evan’s labs last spring, we got about 50 or so genes checked for variants to try an explain low immunoglobulin levels in association with his other symptoms. He had a carrier gene for one potential mutation that deals with the way your body processes sugars, so we got specific testing for that disorder, and it came back negative.
From there, we moved to what is called Whole Exome Sequencing. This is a good genetic test for when you have clinical information (symptoms) but no clear direction for what you’re looking for. It looks at variants in the protein-coding parts of a person’s genes. This is high tech stuff way beyond what my brain can fully understand. It’s incredible to me that people have the minds to create such tests. Basically what happened in this test was that Evan’s smaller diagnoses and symptoms were placed into an algorithm along with his blood and our blood. They searched though his genetic make-up in comparison with ours as his parents and then weighed all of that information against what we know about him clinically. So yeah, that test takes a while to come back. We sent it off in October and were told we would get it back in roughly four months and that it was about a 50/50 shot at receiving an actual diagnosis.
On February 11, we got a call from Evan’s genetic counselor at John’s Hopkins telling us the results were in and that we had a diagnosis. Evan has a genetic mutation of the RPL10 gene on his x-chromosome. This means that I am a healthy carrier of this genetic disorder. If we had more biological children, they would have a 50/50 chance of having the disorder (another Evan? SO TEMPTING!). There is no official name for this genetic mutation because it is rare and there just isn’t much research on it. So to those of you wondering, “so what does this mean?” My answer to you is “pretty much nothing.” It is more or less random letters and numbers that tell me what I already know: my kid is a freaking rare and precious gem.
Many of Evan’s symptoms can be explained by the little we know about this genetic disorder. Some not as much. It will be hard to know what came from his being born early while still so small and what is just the way he was made. But it doesn’t change anything about how incredible he is or how much we love him.
Our genetic care team is working hard to learn as much as they can about this gene mutation before we meet with them this summer. They are looking for research opportunities for Evan to be a part of that could help us (the global us not just the Nortons) learn more about this condition. As of now, there are literally only a handful of people living with this diagnosis across the world.
One thing I would ask is that those of you who are close to us not Google or try to do your own research on this and talk to us. Evan has over 30 doctors and therapists on his care team. We would like our family and friends to remain just that: family and friends. Love on him. Ask how he is doing. Gush over how cute he is. Please, don’t try to be his doctor. I ask this lovingly.
Here is something cool we’ve learned through the power of social media and Google. There is ONE other child in all of the US living with this diagnosis. Are you ready for the crazy part? His name is also Evan! We found him on a post from Rare Disease Day’s webpage. His mom writes a brief summary of their story. I would LOVE to find a way to get in contact with this family. How amazing would it be to get our boys together? Mostly, I just want this precious family to know that they are not alone. So in order to find them, I am asking for your help! Please, share this blog post with as many people as you can. Hopefully, it will find its way onto this sweet mama’s computer or phone screen.
I am also hoping that we can get this thing named Evan’s Syndrome since TWO of the roughly 10 people in the world with it are named Evan. Who’s with me?!
Before I close what I know has been a lengthy post, I want to share some of my heart with you all. I know Jesus more deeply because of my son. I have seen the grace and mercy of God in ways I never thought I would on this side of Heaven. It is pure JOY to be Evan’s mama, and I thank God every day that He entrusted this precious boy to me. He is more than a diagnosis. He is more than what any test could say. He is a son of the King most high. He is chosen and wholly loved.