This time of year is bittersweet for my family; March 10, 2023, we received my son’s official Diagnosis of Tetrasomy 18p and Isochromosome 18p and my world changed forever.
Giovanni Patrick Pasculli was born on October 29, 2021. He was 6 pounds 1ounce and 18 inches long. My pregnancy with Gio was much different than the previous one with my daughter. At 20 weeks, they noticed that Gio had a duplex kidney and I went weekly for ultrasounds to monitor and to determine the best course of action. At every scan they mentioned his measurements and weight. I was ultimately induced at 39 weeks due to suspected low birth weight.
Once he was born, it felt like everything was a fight. I noticed some differences between him and my older child. His skin always felt rough, he was projectile vomiting after every feed, his foot was misshapen, and the list goes on and on. We started to see Urology to monitor his duplex kidney, and he started daycare in December. The week of Christmas he seemed very congested, but he was also a newborn in daycare during the winter. The night before Christmas eve, I finally listened to the nagging feeling in my stomach and took him to the Emergency Room fully expecting them to say it was a cold and send us home. Nope, he had RSV and was transferred to another hospital by ambulance. We spent the next 2 days admitted and were finally discharged on Christmas afternoon with a nebulizer. From then on, he just seemed very fragile, like he wasn’t “sick” but he just wasn’t ok.
Daycare sent home a paper everyday with how many wet diapers, feedings, etc. I noticed a couple times on his sheet that things just seemed off. Not many wet diapers, very low feeding volumes, etc. Now into the new year, in February of 2022 after a few days of particularly alarming vomiting episodes and seeing the words “refused feeds” on his daycare paperwork again made me realize something was not right. We took him to the Children’s Hospital of Philadelphia where he spent the next 12 days due to failure to thrive, reflux, and gastroparesis. He was discharged with an NG feeding tube and I thought to myself, I have no idea what I am doing.
Over the course of the next year, we were in and out of the hospital every other month. It felt like every time he got sick, he got admitted. He got his G Tube in May of 2022, and we spent much of the summer back and forth to the Hospital. We had added more specialists to our team including Gastroenterology, CHOP’s feeding and swallowing team, and endocrinology.
In September, we were finally able to get approved for Genetic testing and submitted our samples. We were told it could take up to 6 months for the results. Fast forward to diagnosis day, it was emotional and overwhelming to say the least. We spent over a year advocating and searching for answers that we finally received, yet not much has really changed. With such little information available, we still had so many questions! We left that appointment with a variety of resources including an application for NJ Medicaid, the information for the Chromosome 18 research registry, packets of information, and more referrals! We did our best to learn as much as we could with the information that we had.
We eventually got Gio into a Medical Daycare facility and found a Special Needs Pediatrician. Both of those have been huge for him, they also help us to identify resources. He is now almost 3 ½ years old and doing so well! He is walking, saying some words, putting food into his mouth but still relying on his tube for his daily nutrition. He is playing and figuring out how things work. It’s incredible to watch his little brain work! He is the happiest little boy, very sociable, loving, and affectionate!
If I could go back and talk to the version of myself that was in the Genetics office, I would simply tell her “We are going to be ok!” So many times, throughout Gio’s journey I thought to myself, “I can’t do this, I can’t possibly take anymore” but I did. I learned how to stand up for myself and my son to advocate for his best interest. I learned I was much stronger than I ever thought possible and I have done things I never would have expected myself to. I have learned to let go, slow down, trust my gut, and to never give up. I still very much remember the feelings of endless worry, stress, hopelessness, and loneliness. I learned to let go of a timeline, whatever he does and whenever he chooses to do it is incredible! I also learned that two things can be true at the same time. I can be brave yet worried, strong yet at my breaking point, grateful yet sad, and excited for someone else’s child while still sad for my own.
I have met so many incredible people throughout this journey and have learned so much! If I could do anything for another family, it would be to help them in any way possible the way I would have wanted someone there for me in the early days full of questions and unknown.