‘He’s here, he’s breathing, and he has a TON of hair!’ The joy only lasted for a moment. Our son was ready to shake things up at the hospital.’: Mother learns of son’s rare Cornelia de Lange syndrome diagnosis

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“We had waited 10 weeks to see our beautiful baby on the ultrasound screen again. Do to an insurance issue preventing us from getting any scans between 20 and 30 weeks, naturally my anxiety was overwhelmingly high that morning of our 30-week scan, the morning our world was turned upside down.

The same technician from my previous scans greeted us with a smile and brought us to the ultrasound room. There was a lot of small talk, and then there was silence. After minutes of silence, I finally asked if everything was okay. She smiled, turned off the screen, and said she would be right back. I looked at my fiancé, Giovanni, and with tears in my eyes said, ‘I knew it.’ It was at this appointment when we were told our baby’s heart had severe defects. It was at this appointment when they told us he most likely would have some sort of syndrome, and we had ‘no choice’ but to continue with the pregnancy. I remember feeling angry at that, ‘no choice but to continue.’ As if they had already deemed his life to be unfit to continue if we were earlier on.

Pregnant woman stands in field holding her stomach with husband who stands beside her
Martina Valekova Photography

The next four and a half weeks went by in what seems like days. We had an amniocentesis performed that confirmed a syndrome, undiagnosable until birth. During that appointment the technician told us there was fluid surrounding his heart and there was a possibility he was already in complete heart failure. This was the first time the thought of losing him felt so real, and so close. I cried for days. My fiancé and I, both mourning in our own ways over the life we had so anxiously and joyfully been waiting to meet. ‘Complete heart failure.’ ‘You need to be prepared for anything.’

Were we going to lose him? And if not, what would life be like for him? Everyone was already speaking to us as if there was no cure for a heart defect and a ‘suspected syndrome.’

We followed up with a Pediatric Cardiologist, Dr. Eleanor Ross. Upon meeting her, we felt comforted, supported, and entirely understood. She was the first person to give us hope when it felt like everyone else was apologizing for a broken heart that didn’t even make it into the world yet. After another hour-long scan, she finally diagnosed his heart defects as Double Outlet Right Ventricle (DORV), Tetrology of Fallot (TOF), Ventricular Septal Defect (VSD – which means a hole in the heart), and Pulmonary Stenosis. Leaving that appointment, we felt two very different things: happy to have a diagnosis, and terrified of the future.

Husband stands with arms around wife who stands in front of him
Courtesy of Stephanie George

At 34 weeks, the baby stopped moving, and an hour before I was supposed to prep for the OR, a physician came to my room and told us the cardiology team at our hospital was not ready to deliver him. They feared he would be too small and with how complex his heart defect is, there wouldn’t be many options for them to surgically intervene and stabilize him. ‘He’s too small, there may be nothing they can do for him.’ The goal was to make it to 37 weeks… but our little guy had his own timeline.

Our sweet Sebastian arrived not even a week later, weighing in at 3 pounds, 14 ounces and 15 inches long, and ready to shake things up at the hospital! I heard three things when he was finally out: ‘He’s here!’ ‘He’s breathing,’ and, ‘He has a TON of hair!’ What a joyful moment. And I say moment – because the joy only lasted for that long. Within minutes they were inserting a breathing tube, and then after that, the cardiology team took him away while I recovered. We had no idea what the future looked like, and nothing could have prepared us for the trauma after trauma we lived for the next 100 days.

Newborn with Cornelia de Lange syndrome lays on back in NICU with pump attached to mouth
Courtesy of Stephanie George

In those 100 days, he was intubated for 80 of them. In those 100 days, I got to hold him 29 times. In those 100 days, he didn’t move much or really open his eyes until the very end of his hospitalization. In those 100 days, we almost lost him twice. On top of Sebastian’s heart defect, we were told that he has encephalopathy, an incurable brain disease. Or if you ask certain specialists, they will tell you, ‘potential for no real quality of life.’ In those 100 days we received diagnosis after diagnosis, deeming him a life of minimal activity and awareness. But in those 100 days he showed us how to fight. He showed us how much our family needed him, needed strength, God, and each other.

Mother holds newborn with Cornelia de Lange syndrome in her arms while sitting in NICU
Courtesy of Stephanie George
Close up of newborn with Cornelia de Lange syndrome with wires up his nose and in mouth
Courtesy of Stephanie George

During this hospital stay, we learned Sebastian had Cornelia de Lange syndrome. This rare syndrome affects 1 in 30,000 births and every child is different. He had his first heart surgery at 11 days old, followed by his second heart surgery at 2 months old. After 101 days, he was able to come home and recover while preparing for that third surgery which he had at 5 months old. He recovered from all of them very slowly, with multiple complications in between, yet so magnificently, too! Each surgery, and each week he made more and more progress.

Husband and wife hold newborn with Cornelia de Lange syndrome in car seat
Courtesy of Stephanie George

This was a baby that 9 out of 10 physicians expected not to survive past one month. This was a baby who underwent 3 heart surgeries all under 6 pounds in weight. This was a baby who had a breathing tube doing all the work for him for more than 80 days of his life – nearly consecutively – and showed little to no signs of life until he was 3 months old.

This, is Sebastian.

Bsby with Cornelia de Lange syndrome lays on back smiling with tube up his nose
Courtesy of Stephanie George

His syndrome declares him deaf, possibly blind, with an inability to ever walk, or talk. That is the staple expectancy attached to this syndrome. But… I believe in my heart he will overcome and achieve ALL these things – in his own sweet timing. Just as it’s always been. I will never forget that day we received the diagnosis of his syndrome, though. One genetic specialist after another telling us all the things he would ‘never do’ – selling him so short. It felt like we received apology after apology for this diagnosis, with barely any sign of excitement that baby we had been anxiously waiting to meet was here! The thing is though, as thorough as these specialists were, they left out so many pieces of important information – everything he WOULD do!

Mother smiles as she holds baby with Cornelia de Lange syndrome up in air
Courtesy of Stephanie George
Baby with Cornelia de Lange syndrome smiles as he sits in high chair
Courtesy of Stephanie George

They didn’t tell me his smile would light up any room. And that his personality would be so healing to anyone who gets to meet him, even strangers. He has a way of making people feel at peace. They didn’t tell me about all the knowledge I would acquire caring for him. And they definitely didn’t tell me that he would teach us everything we never knew we needed to learn; like patience, understanding, gratefulness, humbleness, inclusion, gratitude, selflessness, and to never ever take one single day for granted.

Father lays asleep with baby who has Cornelia de Lange syndrome in his arms
Courtesy of Stephanie George

I used to be so angry, so full of grief and loss. The hardest part of all of this was learning how to grieve over this life we expected and felt like we lost, all while still being grateful for this beautiful life we were given. But since the very first day he was released from the hospital, he has done nothing but continue to prove to everyone how strong he is.

Baby with Cornelia de Lange syndrome asleep with wires attached all over his body and wire up his nose
Courtesy of Stephanie George

Sebastian turned one year old on October 3rd, 2018. He will have his fourth heart surgery sometime early 2019. Followed by eyelid surgery (he can only open one eye – this is a characteristic of his syndrome, a condition Called ‘ptsosis’ which means a weakening of the eyelid). He is a candidate for cochlear implants, which we will also try in hopes to give him some usable hearing, but as of now he is diagnosed deaf in both ears. He is strictly tube fed, but recently has started trying some puréed foods, and boy does he love the taste of real food, especially bananas! In regards to his brain disease, there is no treatment. Having encephalopathy means he will always be battling volume loss in his brain, and the ability to make new connections and development properly. This will affect seemingly every part of his milestone development, but we already know he has plans to prove everyone wrong, so we are not worried about that part.

Baby with Cornelia de Lange syndrome lays on his back with wire up his nose
Courtesy of Stephanie George

Congenital Heart Defect, Encephalopathy, and Cornelia de Lange Syndrome will cause many challenges in his future. As much as I wish I could take away all the pain he has endured – the surgeries, the infections, every ‘close call,’ I still wouldn’t change WHO he is. He is a miracle, given to us. He is a fighter, a teacher, an inspiration, a pure joy to know. And he is ours.”

Mother smiles in selfie with son who has Cornelia de Lange syndrome sitting in her lap and husband smiling beside her
Courtesy of Stephanie George
Baby with Cornelia de Lange syndrome lays on back smiling with wire up his nose
Courtesy of Stephanie George

This is an exclusive story to Love What Matters. For permission to use, email Exclusive@LoveWhatMatters.com.

This story was submitted to Love What Matters by Stephanie George, 26, of New Lenox, Illinois. You can follow Sebastian’s story on InstagramSubmit your own story here, and subscribe to our best stories in our free newsletter here.

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