Brianna Turner

Mike and I met while in college at the Ohio State University, where I studied health and wellness. After five years of dating, we tied the knot in September of 2011 and moved to Medina, Ohio just outside of Cleveland. Only six weeks after our wedding I discovered I was five weeks pregnant. I delivered a healthy baby boy, Hudson, in June of 2012. Coincidently, Hudson was born on Mike’s birthday (which means my work is done since I could never top a first born child as a birthday gift). Anyone who has ever met Hudson is quick to realize that he is a very busy boy. We decided, for our sanity’s sake, that we would wait a bit before trying for more children. However, when we celebrated Hudson’s first birthday with family and friends I had no idea I was already pregnant with another baby boy!

The first half of the pregnancy was pretty typical. Neither Mike nor I have a family history of genetic disorders so we were shocked when a routine test came back abnormal. We immediately scheduled an ultrasound with a specialist who looked for irregular physical markers. The ultrasound did not show anything out of the ordinary, but the specialists offered us another blood test to be sure. After almost 10 days of anxiously awaiting the results, we received devastating news. The specialist told us that our baby was showing the genetic markers of Trisomy 18 and insisted that we do an amniocentesis. Once the FISH test was in we met with a genetic counselor who tried her best to console us. Up to that point, Mike and I had held out hope that the tests were incorrect and that our baby was going to prove all the doctors wrong. It was a crushing day as she explained the severity of condition and the unlikeliness of our son reaching his first birthday. We scheduled a follow up appointment with the counselor and went home to begin discussing plans for our baby’s expected short lifespan.

The day of our next appointment was a gloomy one as we headed to our meeting with heavy hearts. The genetic counselor pulled out a stack of research papers from the Chromosome 18 Registry & Research Society and explained that the blood test and FISH test had gotten it wrong after all. Our son was officially diagnosed with Tetrasomy 18p. We were elated to say the least. I’m sure a lot of parents receiving a diagnosis such as our baby’s probably don’t feel the same way, but we were excited knowing that we would have our son. What an emotional roller coaster!

We decided to name our boy Jeffrey after my late father. He was delivered via C-section at 39 weeks to ensure that the proper staff was onsite for his delivery. Everything went smoothly and Jeffrey was taken to the neonatal intensive care unit (NICU) for further evaluation. When they rolled me in from recovery and showed me my tiny newborn in the incubator, I was flooded with emotion. He looked perfect – tiny but perfect. The nurses wouldn’t let me hold him; I could only reach in the incubator and gently touch his leg. They informed us that he already took his first bottle and drank it right up. I was taken to my hospital room to recuperate for a bit and when we returned, Jeffrey had a nasogastric tube placed. His oxygen levels had dropped when the nurse attempted to feed him a second bottle. We were reassured that it was not a big deal and a lot of young babies had trouble learning to suck, swallow and breathe. One of the scariest moments of my life was when a bottle feeding went bad and the nurses had to bag Jeffrey to get his oxygen levels stable. Over the next week, anytime he tried to take a bottle his oxygen would drop leading me to believe it was more than just a common delay. He was transferred to another hospital and eventually a swallow study was done. The doctor recommended a g-tube for Jeffrey because he aspirated all consistencies. Another few weeks to place the tube and clear an infection from the surgery and we were finally ready to head home after a month in the NICU.

We settled into a routine at home with what seemed like a never ending rotation of doctor visits and therapy appointments. Our sweet Jeffrey was a trooper through it all. At two and half months old, Jeffery developed a nasty cold and after a violent vomiting episode, he landed in the emergency room. The attending doctor decided to place him in an ambulance and send him back to our original hospital. Thank goodness for that decision, because the EMT had to bag Jeffery on the way. He was admitted and we spent twelve days in the pediatric intensive care unit while he recuperated. Jeffrey’s difficulty swallowing still makes a common cold an excruciating experience for him.

Jeffrey just turned a year old and he is one of the toughest toddlers we know. Most feedings are still delivered via g-tube but he works hard to practice oral feedings as his health allows. He is very close to sitting independently and rolls everywhere he wants to go. Jeffrey is constantly amazing us with his abilities and we are thankful for every day that we get to spend with him. His smile is contagious and his laugh is the sweetest sound to anyone’s ears.

Jeffrey has been followed by multiple specialists at the Cleveland Clinic since his birth. The Chromosome 18 Registry & Research Society has been a great source of information for us and Jeffrey’s doctors, and I appreciate the opportunity to give back.