Where to begin?
Adam keeps vomiting everything up.
These were words my wife would tell me increasingly after our son Adam was born. He is our third son out of four children and at the time I remember, in my undying optimism, telling her to disregard it as he was just a few months old. Babies do that, you know.
At 7 months, Adam was in the .02 percentile for weight. No, not 2%, but .02%. I felt like a failure as a father, and I can’t imagine how my wife felt who worked tirelessly every single day and every single night to feed him while balancing our two other boys. He was hospitalized for the purpose of running through a series of GI tests and MRI’s, as well as a DNA test in a very short period of time. Within 24 hours, he was put on what’s called a NG tube.
A note about NG tubes. People might tell you it’s not a big deal and that plenty of people have them. But watching a nurse pin my 9 month old son down while another shoves a plastic tube through his nose, down his trachea and into his stomach while he screams was, to put it mildly, excruciating. Normally, once it’s in you don’t have to worry about it. But my son has a condition (unknown to us at the time) and he vomits many, many times each and every day. Almost every time he vomited, the tube would come up and out, just hanging there in this awful place from his nose and out of his mouth. My wife and I became terribly efficient at pulling the tube out, and then reinserting it as instructed by the docs.
I’ve never had a nightmare worse than each time I had to do that. It was like I could see my son’s trust in me breaking every single time, because he would look me right in the eye as he screamed.
Fast forward to the point where he’s still vomiting almost every feed, and our family lives with an awful cadence of carefully feeding him across multiple hours, trying to distract him from the ensuing nausea, watching him vomit everything up from the preceding two hours, cleaning/ sanitizing him and his surroundings, and claiming victory for any feed where he didn’t throw everything up. And the smell. Oh the smell. Every aspect of our family life revolved around vomit. We dropped off the map to focus on Adam. It’s hard to imagine and process. Still no answers and he was approaching his first birthday.
It was my second day in the office at my new job when I received a phone call from the genetics department at our local hospital. They’d found Adam’s condition after 4 months through an extensive genetic test. Neither my wife nor I have it, and it does not run in our families. It simply doesn’t exist in our genetic lineage. Adam’s condition is considered “de novo”, or having occurred after conception. It is a completely random genetic mutation in which his body is incapable of delivering creatine to his brain cells, rendering his brain unable to develop or grow. It is called Creatine Transport Deficiency. There is no amount of optimism or disposition that can prepare you for the news that your son will never have the mental capacity beyond a 2 year old. No hope for therapy, no spectrum to speak of, and almost no research or literature about his condition because it is considered a neglected condition. There was just no known path forward. If I had to describe the feeling, it was like someone kicked me in my gut and ripped my heart out through my chest at the same time. I looked at my son to see if I saw him any differently with this new knowledge. I didn’t. I just wondered about everything, because everything had just changed.
We had immediately become part of an extremely small community of families that could never be understood by anyone else. We were beyond the empathy of others which, let me tell you, is the most isolating and lonely feeling in the world.
Every last thought you had about life, everything you had planned, dreamed, or envisioned, just walks away without looking back, like it never cared about you. Later that day, alone in the car, I wept. I wept for myself, my wife, and my sons. And that was just the first day.
At 7 months, Adam was in the .02 percentile for weight. No, not 2%, but .02%. I felt like a failure as a father, and I can’t imagine how my wife felt who worked tirelessly every single day and every single night to feed him while balancing our two other boys. He was hospitalized for the purpose of running through a series of GI tests and MRI’s, as well as a DNA test in a very short period of time. Within 24 hours, he was put on what’s called a NG tube.
A note about NG tubes. People might tell you it’s not a big deal and that plenty of people have them. But watching a nurse pin my 9 month old son down while another shoves a plastic tube through his nose, down his trachea and into his stomach while he screams was, to put it mildly, excruciating. Normally, once it’s in you don’t have to worry about it. But my son has a condition (unknown to us at the time) and he vomits many, many times each and every day. Almost every time he vomited, the tube would come up and out, just hanging there in this awful place from his nose and out of his mouth. My wife and I became terribly efficient at pulling the tube out, and then reinserting it as instructed by the docs.
I’ve never had a nightmare worse than each time I had to do that. It was like I could see my son’s trust in me breaking every single time, because he would look me right in the eye as he screamed.
Fast forward to the point where he’s still vomiting almost every feed, and our family lives with an awful cadence of carefully feeding him across multiple hours, trying to distract him from the ensuing nausea, watching him vomit everything up from the preceding two hours, cleaning/ sanitizing him and his surroundings, and claiming victory for any feed where he didn’t throw everything up. And the smell. Oh the smell. Every aspect of our family life revolved around vomit. We dropped off the map to focus on Adam. It’s hard to imagine and process. Still no answers and he was approaching his first birthday.
It was my second day in the office at my new job when I received a phone call from the genetics department at our local hospital. They’d found Adam’s condition after 4 months through an extensive genetic test. Neither my wife nor I have it, and it does not run in our families. It simply doesn’t exist in our genetic lineage. Adam’s condition is considered “de novo”, or having occurred after conception. It is a completely random genetic mutation in which his body is incapable of delivering creatine to his brain cells, rendering his brain unable to develop or grow. It is called Creatine Transport Deficiency. There is no amount of optimism or disposition that can prepare you for the news that your son will never have the mental capacity beyond a 2 year old. No hope for therapy, no spectrum to speak of, and almost no research or literature about his condition because it is considered a neglected condition. There was just no known path forward. If I had to describe the feeling, it was like someone kicked me in my gut and ripped my heart out through my chest at the same time. I looked at my son to see if I saw him any differently with this new knowledge. I didn’t. I just wondered about everything, because everything had just changed.
We had immediately become part of an extremely small community of families that could never be understood by anyone else. We were beyond the empathy of others which, let me tell you, is the most isolating and lonely feeling in the world.
Every last thought you had about life, everything you had planned, dreamed, or envisioned, just walks away without looking back, like it never cared about you. Later that day, alone in the car, I wept. I wept for myself, my wife, and my sons. And that was just the first day.