Hi, my name is Konrad Skwirz, I’m a 5-year-old boy. I have an older brother Dominick 12 and a sister Angelica 8. I was born in August 2018 as a healthy boy, however when I was only a few months old my parents noticed that I wasn’t holding my head up and turning around. When I was 5 months old, I was at my first Neurologist visit where I had my first confirmed set of seizures. That day I was admitted to the hospital and had multiple tests done. After 4 long months of waiting for genetic results, I was diagnosed with an extremely rare genetic disorder known as PIGN-CDG, a type of inherited metabolic disease called Congenital Disorders of Glycosylation (CDG). This disease is also known as MCAHS1, Multiple Congenital Anomalies, Hypotonia, and Seizures Syndrome Type 1.
As of 2022, globally there are fewer than 110 known children affected with this disease. As genetic testing is becoming increasingly widespread, more and more cases are being identified each year. Unfortunately, there is not a lot of research about this disease that would provide any interventions or protocols to improve or enhance the daily lives of children with this disease. The population of children affected with this disease experience neurological and developmental delays, severe muscle tone disorders, and seizures.
Ever since then, I went through multiple testing, hospital visits, and doctor’s appointments to get help to control these ongoing seizures, become therapists and specialized caregivers to overcome difficult times.Finally, when everything got better, I went to school.
Like many kids, I enjoy my bus ride to school. I go to a very special school in Edison NJ. The school I attend is called Lakeview School New Jersey Institute For Disabilities. Every day I set milestones for myself to overcome the obstacles I’m facing through this disease. Despite these obstacles, I’m always optimistic, happy, and so kind. My smile is so contagious that it lights up any room. I want to gain the strength to overcome the barriers of this disease.