No Risk, No Story




Life was starting to look a little lighter, a little brighter. I was learning how to be a mom, wife, nurse, therapist, researcher, and employee, while also trying to navigate this new life. It was not hard to lose myself. I did not have any free time to be much else. Our routine had steadied a bit. Still no answers, but we kept pressing forward. Around May 2017, we got a call from our pediatrician about a geneticist at the New Orleans Children's Hospital who had an opening in July if we wanted the appointment. We, of course, took it. Even if this geneticist had no immediate answers or ideas about what he thought Carter was diagnosed with, he would be the one to schedule any genetic testing. 

In the midst of waiting for the appointment, I am surprisingly laid off from my job. If the blows I had taken the past year weren't enough, this had the potential to run the rest of me into the ground. We could barely afford Carter's medical treatment with both of our salaries. The impossible task of trying to survive on one salary was enough to make me want to faint. Little did I know, this was quite possibly the BEST thing that has happened to me in this journey. At the time, though, this was not the case. No longer having a place to go that could free me for a few hours from the hell we were going through was mentally exhausting. Now I was with Carter from dawn 'til dusk. And we were suffering. I was already drowning in this world and now I truly had nothing else to define myself. 

July 2017, our appointment day comes, we attend and he has no answers. BUT, he is ready to schedule a WES (whole exome sequencing) for us. In very simple terms, our body is made up of introns and exons. This is referred to as our GENOME. The exons make up around 1-2% of our genome and they, alone, are referred to as our EXOME. The WES testing uses Carter's blood, and saliva from Casey and me, to determine if his exome contains a deficiency. It can also determine whether he inherited this deficiency from either of us. We confirm with him that we are already doing everything that we can to help him progress, all we need to do now is wait on the test to arrive in the mail.

August 2017, I had been home with Carter for almost a month. I already knew we had a lot of issues to deal with, but being home really opened my eyes to just how bad it was. Especially the vomiting. It was literally, all day. Puddles of it. We had him on reflux medication and a very gentle formula (the 10th one we were trialing), with nothing helping us. Every burp or breath or hiccup forced something up. The weird part was that it wasn't projectile. It was just puddles of vomit that just flowed out like a river. I remember having to call my mom and my grandma, crying so hard I could barely speak, to tell them that I needed help. Carter was still crying and vomiting all day long, no matter what we did to help him and it was truly affecting our life together. My mom and grandmother came over that day to take care of him while I slept. So I slept and I cried. A few days later, I headed to my parent's house just to hang out and Carter began projectile vomiting.

It was extremely hard to know the difference between his normal amount of vomit and vomit because he is actually sick. We decided a trip to the emergency room wouldn't hurt. Long story short, they did nothing helpful. That was enough for me to be absolutely done. We had to do something. I made the first appointment available the next morning with our gastroenterologist and went in begging for help. It had been 17 months of pure HELL. The kind of hell that has had effects that will last me a lifetime. We were admitted to the hospital for observation for vomiting and dehydration. This baby had been starving for 17 months and it didn't matter what we tried to give him, his body rejected it.

5 days of doctors, nurses, family in and out of his room. Blown veins from IVs, painful vomiting because his little body was worn out. Carter could barely stay awake because he had absolutely no energy left. An NG tube was inserted through his nose, it failed and they had to reinsert 3 times. It was horrendous. Once they got it correctly in place, which took HOURS, he could finally keep down liquids. Anytime we tried to feed him by mouth, it came right back up. It took five days of back and forth team meetings, along with my blessing, for our GI to decide Carter needed a Nissen Fundoplication along with a g-tube (feeding tube) in his belly. A Nissen is when the doctors wrap the bottom of your stomach around your esophagus to stop regurgitation. The Nissen, in a lot of cases, is a last resort because it cannot be reversed. It also has an extremely high failure rate due to vomiting after placement and a ton of negative side effects.

As a parent, this was a very hard, but necessary decision to make. We were willing to risk it. Carter was only the second patient my GI has had in her career who had a Nissen done. They do not take surgeries like this lightly. Everything is a risk. Doing nothing is also a risk.

We did something. 

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