Maintaining Hope Amid My Baby's Cornelia de Lange Syndrome Diagnosis

My high-risk pregnancy started when I was 11 weeks pregnant. We went for our first maternal fetal medicine (MFM) scan and were diagnosed with a condition called Hydrops fetalis, a condition in which the fetus is characterized by an accumulation of fluid, or edema, in at least two fetal compartments. Our fetus had fluid in both chambers of his lungs, as well as facial edema. The hydrops worsened as the weeks went on which left our son with only a 1% chance of survival, because they feared the fluid would compress his heart and force it to quit beating. They begged me for weeks to terminate, but I refused. More than I would like to admit, I was told:

“He is very sick. He won’t be happy and will not have a good quality of life. Termination should be strongly considered.”

I continued getting weekly MFM scans along with one dose of steroid injections to help assist his lung growth. I was heavily monitored for Mirror syndrome, which wasn’t only fatal to my unborn son, but myself as well. I didn’t ever go a day without having hope.

On April 18 we went for our normal weekly MFM scan, and were not expecting to leave hearing the words, “His Hydrops has resolved and we have no answer for that, but he is 38 weeks and has had a plateau in growth for a few weeks now. He is healthy and we don’t want to put anymore risk into the situation. You are scheduled tomorrow for a C-section.”

The next day before going into surgery, I received the normal prepping for mothers who are going into C-sections, but I also met 25 health professionals who were going to be in the operating room with us too. They were the people myself and my husband gave 100% power to do anything they possibly could when it came to resuscitation and saving our unborn son’s life. We were told to expect the worst. We were told that there was a 50% chance of stillbirth. As my husband left to go scrub in, I was handed a paper to sign. The paper stated that I understood how complicated the situation was and that I would not legally pursue anything if something were to happen to myself, or my son during the surgery. After I signed the paper, I was given a spinal and froze from the neck down. It was at that point where I was powerless. I had to wear ear plugs to focus on my breathing and to help keep my blood pressure down. All I had to do at that moment was pray.

Our sweet Preston arrived on April 19, 2018, weighing in at 5 pounds, 2 ounces and 17.4 inches long. I heard a cry, which you think would leave any mother relieved, but not me. I was still worried. Around 20 to 25 people rushed to the trauma room that was attached to the OR with Preston. My husband knew he was not supposed to leave our son’s side. No matter what were to happen to me, he was supposed to stay with Preston. They began to stitch me back up. Although I am sure it was minutes, it felt like hours went by with no update on how Preston was. All I kept asking was, “Is my baby OK? Is Mike still with the baby? Why has no one come to update me yet?” My husband eventually came in and told me that he was fine. He was breathing 100% on his own and they were about to head to the NICU. After about an hour in recovery, they wheeled my bed in so I could go see Preston for the first time. I was only allowed five minutes before I had to be in my room as social workers, doctors, geneticists and therapists were going to come talk to me. It was enough time for me to hold my son for the first time and take a quick picture. The next time I would see Preston would be about four hours later.

Our three week NICU stay was full of consults, tests, meetings and scans. We learned Preston was healthy, in and out. Everything came back “normal” or “negative.” Doctors were scratching their heads because in womb, Preston was not healthy. He had 1% to 50% chance of survival due to the fluid that compressed against his lungs, since he was 11 weeks gestation. They kept forcing test after test trying to find something to give them answers. It was starting to feel like he was a science experiment. The first two weeks, no one but myself and my husband were allowed to see Preston due to isolation. Our 2 year-old-daughter wasn’t even allowed to come meet her new little brother. But the day I remember the most during our NICU days, a day that I will probably remember until the last of my days, was our last consult with genetics. It was our last bump we had to pass before getting discharged and being able to go home as a new family of four. Mike, myself, our social worker and her student, our NICU pediatrician and our geneticist walked into this tiny room with two leather chairs, four other chairs they had brought in from the waiting room and a small box of Kleenex on a wooden circle table. Then they closed closed the door. I thought to myself, “These are the tiny rooms they bring people into to tell them something bad.” I was extremely nervous and I sat down in one of the black leather chairs. Everyone looked at me and asked if I was ready, and that’s when I released every emotion I think I had built up inside from my pregnancy until that very moment. My husband grabbed my hand and our social worker asked me what was wrong and I replied, “I am scared you are all going to tell me that my son is going to die.” After a short moment, the pediatrician smiled at me and replied, “Jessica, your son is healthy and has shown us great things since being born. He isn’t dying. He is a miracle.” Our geneticist continued to tell us about how she suspected Preston to have a genetic condition called Cornelia de Lange syndrome. We had never heard of this syndrome before and didn’t have any answers to any of our questions, which was why we decided to send Preston’s blood to Sweden for further genetic testing. Two days later we were discharged and about four and a half months later we got the results — Preston has a “heterozygous NIPBL variant of uncertain significance gene mutation.” To our knowledge, Preston is the only one recorded worldwide (so far) with the change in the region of Exon 31.

It is estimated that 1 in 10,000 kids are diagnosed with Cornelia de Lange syndrome. It affects males and females equally and is seen in all races. The severity of CdLS ranges from mild to severe, but those with it share similar characteristics such as small stature, hands, feet and head; joined eyebrows, long eyelashes, an upturned nose and thin, downturned lips. In 99% of cases, the gene change is sporadic, not inherited, which means that change occurs randomly during conception. Many people with CdLS have limb differences or uniqueness of hands. They all have a full head of hair, which naturally grows in a faux hawk. Preston has mild physical features of the syndrome. He does have a few challenges such as mild hearing impairment, nearsightedness, partial joining of his first and second toes, gastroesophageal reflux, and feeding problems. He is also developmentally delayed in certain things, but excels in some other age appropriate areas. He is fed with an NG Tube (a feeding tube inserted through the nose) until my coordination improves and he is able to take in enough daily calories. Since Preston was born he has seen a lot of doctors and specialists and spends most of his time at clinics, hospitals and therapy sessions to help make his dreams become reality!

Unfortunately because of his disability, there have been many times when people (family, friends and strangers) have looked at him differently or have treated him differently. They see his feeding tube and assume something is “wrong” with him or he’s “unhealthy.”‘ They see his size and hear that he is almost 2 years old, and they look at us like we’re making a mistake and continue to avoid us like the plague. There are even a select few who mistreat Preston in ways they would never to our daughter, such as not caring to check in, missing out or even lying about why they can’t come to milestone celebrations. To us parents, it makes us feel like Preston isn’t good enough or he isn’t good enough to be loved from others. We knew having kids would help us find out who our true friends and family are, but we never knew having a child with a disability would show us who the real ones are. The stigma is out there and it’s very sad to personally experience. Preston has taught us many things but especially that inclusion matters, patience, seeing things differently matter and having gratitude daily matters.