Nino from Minnesota
Our little Nino was the second baby to join our family. He was born in October 2022, following an uncomplicated pregnancy. We were excited to grow our family and give our first son a brother – we knew the two siblings would be two peas in a pod. And indeed, they were.
Nino’s delivery felt completely textbook. He was born via scheduled c-section because mom had a complicated first delivery and it felt the safest route. So, Nino was brought into the world in a very quick and anticipated manner. From the moment he emerged, everything felt good and joyous, and we focused on recovery and getting home.
Like all newborns in Minnesota, Nino was privileged to partake in newborn screening. We didn’t know at the time that it was an absolute blessing – in fact, mom hated to see that first blood draw, not knowing that there would be many more, with other more difficult tests and visits to the hospital. Nino did not express any symptoms of having any genetic disease, but soon enough, a geneticist reached out. In fact, the communication was slightly more shocking, as the pediatrician called dad and the geneticist called mom.
We held Nino tight and with tears in our eyes made our way to the Minnesota Children’s Hospital soon thereafter for a more comprehensive introduction to the wide realm of possibilities (don’t worry, this story will have a happy ending!). The staff generally suggested that Nino might be suffering from one of the homocystinurias, and although they didn’t have clarity on which one, began to administer treatment immediately. After some additional testing to determine the biomarkers were indeed persistent, we pushed on for genetic testing.
The entire family leaped at the chance to help narrow down Nino’s diagnosis. We fleshed out the family tree, calling on relatives to narrow down information and family myths to provide a good quality history, and then all Nino’s grandparents and parents jumped at the chance to send in DNA. With the influx of support, Nino was officially diagnosed with Cobalamin C deficiency.
Beginning treatment was difficult, but Nino deserved for us to remain committed to providing him with consistent medications and stay on top of doctor’s appointments. His eyes and his heart were top priorities, and ensuring their best care became part of our routine. The blessing of newborn screening and immediate medical intervention is that Nino was able to receive the benefits of treatment right away, and we remain watchful of our happy, spirited, 13-month-old.
While we had the benefit of timeliness, Nino’s initial diagnosis did not come with any certainties. We knew the absolute best-case and worst-case scenarios and maddened ourselves with the “what ifs?”. Now that he was in our arms, the worst-case scenario was unimaginable. Case studies, trials and research papers became our life, and we spent months reviewing everything we could get our hands on. Still, it wasn’t enough.
Our motivation to find clarity for Nino on his potential future brought us to the Mayo Clinic. We transferred his records and found comfort in the genetics team there. Nino was in GREAT hands. We were able to get some good answers about the exact type of Cobalamin C deficiency and what to expect – so far, the doctors have been spot on.
We are raising Nino in a house full of love and laughter. We know that he’ll have a childhood filled with friends, family and joy. There will be ups and downs that we cannot foresee, but we will not stop advocating for our little guy or others like him. We cannot imagine where we would be without newborn screening and the critical advantage it brings families around the world. The benefits of beginning treatment early cannot be understated, and we are blessed to see those benefits with our son today.
Featured HCU Hero: December 2023
