NOVAK

Meet Novak! Everything started during pregnancy, an ultrasound discovered that Novak’s brain ventricles were a bit enlarged (ventriculomegaly). We had more ultrasounds and a fetal brain MRI. We saw a neurologist, but they said everything was fine. Novak was measuring big, so they also did a test to check for Sotos syndrome which came back negative. At birth, Novak was a big baby at 4850 grams, 55 cm length, and 40 cm head circumference. Unfortunately, he had low oxygen saturations, so they sent him to the NICU where he spent the next 46 days. During his NICU stay, he had another brain MRI which showed some additional abnormalities. He was immediately showing delays, as he couldn’t hold his head up, so we started with physiotherapy when he was only 2 ½ months old.

We moved to Hong Kong from Italy when Novak was only 3 ½ months old. In Hong Kong, we met a geneticist who ran Novak’s DNA and in March 2015, when he was 15-months old, he received a diagnosis of mTOR gene mutation! Back then, we were told Novak was case number 7 worldwide for a mTOR gene mutation and his specific mutation on mTOR was the first in the world! The geneticists were not able to tell us much about what this meant for Novak.

With a lot of therapy, he started sitting at 12 months old, walking at 2 years and 3 months old, talking at 4 years and 4 months and now at age 6 he can say approximately 200 words. He does have global developmental delay and autism. However, he is constantly improving both physically and cognitively, adding new things all the time! Of course, we go through our ups and downs, but with our love, he always gets back on track! Novak attends preschool with a full-time shadow teacher dedicated to him. He also receives ABA (applied behavioral analysis) therapy 3 times a week. Novak is now 6 years old and he is a stubborn, happy, sweet, loving, beautiful, and loved big boy. We will always help him improve and give him all the best for his future.

Written by Alessandra, Novak’s mom