Blog

By Giulia Covella

Appreciate the little moments in life. That’s what my three-year-old son has taught me.

Francesco was born, full-term and completely healthy, on December 7, 2016. He came into a world that loved and cherished him; a support system of three beautiful step siblings, two loving parents, one clever dog, and extended family and friends that had nothing but love to share. Being my first-born child, I was overwhelmed with excitement and joy, prepared to experience the millions of emotions that come with motherhood. Yet, I was not anticipating the emotions I would feel on August 30, 2017 when my 8-month-old son was diagnosed with hypothalamic hamartoma.

Early visits to the pediatrician’s office revealed Francesco was having trouble gaining weight. Later, he developed torticollis – which is when a child’s head leans to one side. Soon after, he began making constant, unusual laughing noises, similar to those made when a child has reflux. So similar, in fact, that’s what he was diagnosed with at 6-months-old. Thereafter, Francesco was given reflux medication and assigned to continual physical therapy to help him recover.

One evening in August 2017, my dog began getting jumpy and acting unusual. When I went towards the crib to check on my son, I found him in a locked position; appearing stiff and tense. Having worked in assisted living, I immediately realized my son was having a seizure. Over a 3-day period, the seizures occurred several more times. One strong fever and EEG later and the seizures were confirmed. Francesco was officially started on treatment and later diagnosed.

Hypothalamic hamartoma is a rare, tumor-like malformation that can cause many types of seizures and other symptoms. It is estimated to occur in one out of 200,000 children and adolescents worldwide. In other words, it’s extremely rare. Hence, the chances of it being diagnosed are extremely slim; unless, you encounter an incredibly experienced and knowledgeable pediatric neurosurgeon like Dr. Sanjiv Bhatia at Nicklaus Children’s Hospital. He recognized the benign tumor in my son and informed us his “reflux” wasn’t reflux after all, but rather gelastic seizures characterized as uncontrollable laughing spells. Dr. Sanjiv passed away several months ago. Although heartbroken, we are forever grateful and honored to have had him be such an integral part of our lives and our son’s story.

Francesco had his final, 10-hour long surgery, on April 5, 2018. After a two-week recuperation period in the ICU, his “reflux” has completely disappeared and his quality of life has improved 100 percent. Although he still continues to have spasm seizures once or twice a day, I am overwhelmed with gratitude and hopefulness when I think about how far he’s come.

Overall, these last few years have taught me the importance of not taking a single day for granted, of appreciating every single moment, and not stressing about silly, insignificant details. It’s critical to just take a step back once in a while and look around at how much you have and how much you take for granted. Because at the end of the day, all that really matters is the health of yourself and your loved ones.

I definitely could not be where I am today if it weren’t for the constant never-ending support of my family, friends, colleagues and amazing husband. My son’s story isn’t over, yet, but I am prepared and fully ready for whatever challenge may come our way. My son is a fighter and a champion and I am thankful to God that he picked me to be his mom.