It was back in 1843 that Charles Dickens penned what would become the immortal Yuletide tale, A Christmas Carol. The miser Scrooge learns the true meaning of Christmas when he is haunted by the Ghosts of Christmas Past, Present, and Future.
“I see a vacant seat,” replied the Ghost, “in the poor chimney-corner. And a crutch without an owner, carefully preserved.”
Scrooge mends his ways in time to help his poor employee Bob Cratchit, whose son has a disability and needs medical attention. Tiny Tim utters the story’s most memorable line. “A Merry Christmas to us all; God bless us, everyone.”
I always think of Tiny Tim at Christmas. The woes of this fictional child remind me of the all-too-real struggles faced by our children with KCNQ2. For our community, however, “Scrooge” is not a make-believe character, but a cruel disease.
We are working hard at KCNQ2 Cure to support families and to fund research to find better treatments and ultimately a cure for KCNQ2-DEE. We will not give up.
We cannot give up because this devastating illness causes children to suffer.
We cannot give up because there are empty seats at the table this Christmas.
As we gather with those we love over the holiday season, we ask you to think about a little boy called Carlo, and about all of the children who’ve lost their valiant struggle with KCNQ2.
We write about Carlo because his brave mother asked us to do so. Nicole wants to honor her son. She wants Carlo’s life to shine a light. A beacon to guide us on the path to a brighter future for all children born with KCNQ2-DEE.
Therefore, this Christmas story is about Little Carlo.
Nicole and Paul Cercone’s son Carlo was born in New York on July 10, 2019, at 4:05 am. Their elation turned to alarm when little Carlo didn’t make a sound, except for a strange screech. His eyes didn’t open. Doctors soon transferred Carlo to the hospital’s Neo-natal Intensive Care Unit for observation.
Nicole says she noticed that Carlo moved strangely as if startled. She wondered if he’d had a seizure. “I was crying. I called my husband. They are saying something is wrong with the baby.”
The next days and weeks passed in a blur of tests and medicines and dread. Doctors performed a spinal tap. An EEG. An MRI. Genetic testing. “We were in over our heads,” says Nicole. During the time Carlo spent in the hospital, his big sister Valentina turned two years old.
It was on August 5, 2019, that test results came back. “My husband was holding Carlo. The doctor said, ‘We’ve got some news. Can you put the baby down? It’s best if you put the baby down.’ They told him Carlo had KCNQ2 Epileptic Encephalopathy. Paul texted me. We dropped Valentina off at his parents’. I couldn’t comprehend anything. My husband asked what his life expectancy would be. The doctor said he would have a normal life expectancy. But his EEG had burst suppression. He was never going to walk or talk. We burst out crying.”
But Nicole and Paul put their anguish aside to support their son. Nicole was determined to learn all she could about KCNQ2. She discovered the KCNQ2 Cure Facebook parent page and says it was another parent in the group who suggested Carlo’s variant was a gain of function. As Nicole learned, that’s significant, and can affect the choice of the best anti-epileptic medicine. “I learned more on my own by researching and talking to parents through the KNQ2 Cure Foundation than the doctors.”
Nicole says she and Paul got a second opinion for Carlo and transferred their son to a different hospital. Still later, Carlo spent time in a rehabilitation facility in which, “We went through hell. But they did teach us a lot.” Carlo was medically fragile. Nicole found it impossible to return to her job as a teacher. There was too much to do to take care of Carlo. She had little Valentina, too. “Everything was day by day. It was too much to even think about.”
Nicole and Paul were finally able to bring Carlo home in November, four months after he was born.
“It was wonderful to have him home. Our daughter met him, and she was ecstatic. She stared and said, ‘Baby, baby, baby!’ It was unbelievable.”
But Carlo’s medical complications required constant monitoring. The medicines necessary to control seizures meant that Carlo slept for much of the day. Nicole says she relished the middle-of-the-night moments when Carlo woke up. She could read to him and hold him. “He was charismatic. Charming. I would stay up until almost 4 in the morning playing and talking to him. When I looked deep into his eyes, I saw a little boy saying, ‘I’m trapped. I want to get out.’”
Nicole says Carlo’s big sister, “Loved to hold him. And he loved every minute of it. I have a lot of pictures around my house of Valentina holding him.”
The family felt isolated, especially when the Covid pandemic struck in 2020. But Paul says, “We always said we were in the pandemic before the pandemic happened.”
Nicole says Carlo’s big sister Valentina was a great help. Valentina sang ‘Head and Shoulders, Knees and Toes’ to her baby brother and stroked his hair. “Our daughter was two years old. She was the one giving him his pacifier. Doing speech therapy, because they couldn’t come to the house…I had never seen Carlo work so hard. She would ask me about the feeding tube…She wanted to give him the medicine into the syringe into the port. I was totally blown away by the experience.”
But despite the family’s best efforts, Carlo’s medical condition continued to deteriorate. “It was frustrating because we did everything we could to get him all the help he needed,” says Paul, who points out that he and his wife had no concerns about raising a child with a disability because they are teachers who’ve taught children with special needs. “We saw it as a challenge… I wanted everything to be as positive as it could be. I wanted all the silver linings. I was that dad. There was none of, ‘Why us?’ We were equipped for this.” At first, he says, they were hopeful. “We heard about success stories. People would tell us, ‘Everything will be ok.’ But it was such a detrimental variant. Everything disappointed us. Every medicine backfired on him. It was psychological torture… We worked our asses off, but that body was failing him. You could tell by looking through his eyelids he wanted to get out, but nobody had the key to that jail cell.”
Carlo had to be rushed to the hospital in July of 2020 for breathing issues. He passed away from complications from KCNQ2 shortly after his first birthday, on September 8, 2020.
Nicole says Carlo’s life was short, but he gave her great gifts. “What Carlo taught was unconditional love. He taught me patience. I didn’t know what it meant to be selfless. To love a child with a disability. To love and keep loving no matter what. To be strong. He was the sweetest boy. He loved his family.”
This Christmas, there is an empty seat at the Cercone table. Paul and Nicole hope that one day, we can give the most valuable gift of all. A cure for children like little Carlo who suffer from a devastating and deadly rare disease. We will keep working until that day arrives.