Featured cherub of the week is CDH survivor, Thomas Smith. Thomas’s family had this to share about Thomas:
“The 20-week sonogram revealed a severe Diaphragmatic Hernia. The doctor recommended to terminate the pregnancy. This was not an option, however, it was truly one of the most painful, scary times of our life. Little did we know how many times we would ride this gut-wrenching, emotional roller coaster in the upcoming months. We decided to have a conversation with a voice of experience. The veteran nurse said, “In my 23 years of experience, I have never seen a baby with this severe of a Hernia survive. Don’t buy a car seat, don’t do a nursery, and don’t have a baby shower.”
The next 10 weeks were full of unknowns and a very physically painful pregnancy. We would later learn that the pregnancy is not only painful for mommy but baby too. Thomas tried to make an early appearance at 31 weeks; fortunately, the “lil bun” stayed in the oven. We prayed he would weigh 3lbs to qualify for the ECMO machine. The plan was to intubate immediately, if he survived the birth. At that point, we were not given much hope that he would survive.
Thomas Allen Smith was born January 11, 2016, 11:17 PM at 35 weeks – he was a whopping five pounds. There was only one medical professional in the room at the time of birth for Thomas. The “lil chunky monkey” started to respond even as blue as he was. At this point, a team gathered and took action. Thomas’s stomach, spleen, and intestines were in his chest cavity; his heart and both lungs were all pushed to the right to make room. Thomas also experienced a brain bleed. He was intubated, as planned, and given numerous high powered pain medications and antibiotics.
We patiently waited for the operation to correct the hernia, but first, testing, scans, and X-rays had to be endured. The surgery was planned for January 14th, almost three days after Thomas was born. Excited and anxious, all at once, the doctor requested one last X-ray before they proceeded. As the doctor and Thomas’s grandpa gazed upon the X-ray, Grandpa exclaims, “He is anatomically correct!” The doctor had amazement in her eyes as she confirmed the news. Yes, all of Thomas’s organs had moved through the hernia and back into place. On to surgery he went, which ended up being a success.
The next step was the genetic testing, which later gave Thomas the diagnosis of Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare, lifelong, and life-threatening disorder that affects the central and autonomic nervous system (ANS). There are approximately 1200 cases, worldwide. ANS controls many of the automatic functions in the body, such as heart rate, blood pressure, sensing of oxygen, and carbon dioxide levels in the blood. It also controls the body’s temperature, bowel and bladder control, and more. The underlying cause of CCHS is mutation in the PHOX2B gene, and with each level of the gene mutation comes its own host of additional health issues.
So, what does all this really mean? Healthy, normal children will characteristically respond to hypoxemia and/or hypercarbia with increased work of breathing (retractions, deeper breaths, increased respiratory frequency), and a sense of shortness of breath. Children with CCHS lack these characteristic clues, so that clinicians must rely on objective measures of oxygenation and ventilation (pulse oximeter and PETCO2 monitor used continuously in the home during all sleep time and ideally for hourly/periodic checks during awake time). Basically, we rely on machines to tell us Thomas is OK. This equals a lot of sleepless nights; waiting in the darkness, listening for the alarm, afraid to fall asleep – afraid to “miss” the alarm; checking, rechecking probes, monitors, and electrical support. On the nights when he is ill or coming down with something, it means sitting bedside in order to catch the alarms and suction. Repositioning and resetting this quickly is important so he doesn’t wake too much. This is at least once a month for a few days or weeks.
The system that says,” Hey, breathe!” when you are asleep doesn’t work for Thomas. So, if he falls asleep without his ventilator on, he will die. Needless to say, we make sure all machines are plugged in and try to keep batteries charged in case of power outages. Having no way to charge batteries is always a worry in the back of our minds. Thomas is on continuous monitoring to ensure he is properly ventilated.
In addition to the gene mutation, Thomas also has a microdeletion on 16p12.2. It’s a rare deletion that was first recognized in 2007. It is suggested that 1/15,000 births have this deletion. Development delays, physiatric, and possible heart issues come with this deletion. The symptoms vary and are sometimes subtle and can go undiagnosed.
More scans and testing confirm number four rare diagnosis. Agenesis of the corpus callosum—a congenital disorder that sees a complete or partial absence of the Connective tissue between the two sides of the brain. This is a disorder that usually occurs during development prior to birth. This abnormality affects approximately 2 to 7 out of every 1000 births.
Thomas went through months of adjusting ventilator settings and therapy to prepare for homecoming. Finally, at 10 months, Thomas was able to come home. At this age, he was unable to roll, let alone crawl or begin to walk. We started the journey of therapy, lots of doctor visits, and many hospital stays. We don’t make one trip without the ventilator, pulse ox, backup pulse ox, ambu bag, suction, oxygen, rescue breathing treatments, back up connections, medical stroller, nimbo walker, and of course, his nurse. It is not unheard of for him to become overstimulated or have a crisis to where we find ourselves “bagging” him on the side of I-44 or in the grocery store parking lot.
The child that wasn’t supposed to live, walk, or talk is now walking with assistance, learning sign language, and is attending preschool. His tribe stays diligent with their watch to maintain good oxygen levels as to protect his current cognitive level of function. In order to be successful in this, it requires precise quality tools and a rested, qualified tribe. We are excited to watch his journey unfold before us as we cheer him on. Thomas made a trip earlier this year to our State Capital to present his story in hopes to blaze a trail and show support for others like him.”