Who knew that on July 27, 2020, our lives would change forever? Our son, Luca, was always a fussy baby born with reflux. Around three months old, Luca refused to take his bottles, and the crying turned into screaming. My husband and I knew that something was wrong. We reached out to a preferred gastrologist who had told us that Luca had a sensitive belly and we needed to switch up his formula, which we did, and it seemed to work up until Luca turned six months. Around this time, things took a turn for the worse. Luca started to projectile vomit at least two times a day, either during or after his feedings. We urgently called his gastrologist when we noticed this regularly occurring as we couldn’t stand to see our son in pain anymore. We knew this was something more severe than a reflux issue. The gastrologist had recommended that we thicken his formula. He started to gain weight. Before, he had not gained any weight for 6-7months, which was a huge red flag! The gastrologist also prescribed us lansoprazole and scheduled Luca for a barium swallow X-ray. The X-ray came back negative, as everything seemed to be working correctly. This news was gratifying yet extremely frustrating to hear as there was no explanation of why this occurred. Since everything came back normal, we scheduled follow-up blood work a couple of days after the test. While waiting to take Luca for the blood work, our baby became more ill. Luca began to vomit in his sleep. We called our gastrologist’s emergency line. Healthcare professionals told us if there was no blood, not to be concerned and to wait for the blood work. The next night, Luca vomited again in his sleep and could barely breathe. We knew right then that we needed to rush him to the ER; we could not afford to wait any longer for the blood tests. At 4 a.m. on July 27, we entered the emergency room at a Long Island hospital, where we pushed doctors to take his blood and found out that our baby had a hemoglobin level of 2.2 and needed an emergency blood transfusion. The unknown about what would happen to Luca next made my husband and I burst into tears! We went to the PICU, where several tests were run, and his first blood transfusion took place.
At 4 a.m. on July 27, we entered the emergency room at a Long Island hospital, where we pushed doctors to take his blood and found out that our baby had a hemoglobin level of 2.2…
During our stay, a couple of nurses ran tests, and doctors updated us on results. Many doctors could not answer why Luca’s levels were so low and what was causing the vomiting. My husband and I knew right then that we needed to get to Weil Cornell in NYC (where Luca was born) for the best medical team to start their evaluation on him. We received the transfer the next day and were greeted by our nurses/doctors who would specialize in Luca’s case. Many tests, including a bone marrow biopsy, were performed. Strenuous testing and monitoring took place for about 13 days. We finally saw that Luca’s energy level had increased, and he was slowly but surely starting to gain weight. Luca’s condition was still unknown, and the last test to be performed was genetic testing to rule out possible syndromes/diseases and hopefully give us an answer. On day 14, we were able to leave the hospital knowing that we had our smiley Luca back with lots and lots of energy! Luca was holding down his formula and eating real food, finally. As we anxiously awaited, the genetic departments called after about six weeks of leaving the hospital. The genetics team shared that he did have Pearson Syndrome. It was a very emotional day. It’s hard knowing that your child had something so rare while questioning what his future could hold; that was all so scary! Putting our emotions aside for just a minute, we were also grateful to know the diagnosis and quickly manage what we needed to make sure Luca is living “right now” happy and healthy. Being the overachievers that my husband and I are and knowing that there currently was no cure for Pearson, we knew right then and there it was time to find the best doctors and make it a goal of ours to further along current studies to look to find a cure! After his diagnosis, we immediately reached out to all of our connections to get in touch with the top doctors at CHOP in Philadelphia. The assistants there told us we wouldn’t get Luca to the doctors until March 2021, which we both knew would not work for us. We pushed as hard as we could to finally get a virtual call set up with the doctors the very next day. We were over the moon to get that call scheduled. It was a lot of information to take; however, we felt a bit at ease knowing Luca is in the best hands!
Luca turned one on October 24, 2020. It was an emotional birthday! We are so happy to see him thriving and pushing to hit his milestones. Luca is such a fighter and will continue to teach us something new every day. We love him to the moon and back, and we’ll keep pursuing our goal of finding a cure for him and the other kids diagnosed as well. It might be a long journey, but we will never give up!