Location:
Branford, Connecticut
Birth story:
Nicholas was Amanda’s 3rd pregnancy, the pregnancy was normal until the 33rd week, when Amanda’s water ruptured prematurely resulting in an admittance to the hospital to try to avoid onset of labor. Nicholas was born 4 days later exactly at 34 weeks on November 11th 2018 weighing 5lbs 4oz. Due to his prematurity, Nicholas spent the next 11 days in the NICU working on feeding, and regulating his body temperature.
Infancy:
2 months after Nicholas came home he was having trouble gaining and sustaining his weight, which resulted in being diagnosed with failure to thrive. Amanda noticed at 3 months Nicholas wasn’t meeting any of his milestones, and still struggling with feeding issues. Nicholas then got a referral to Birth-3 early childhood intervention services to evaluate his delays. After his evaluation at six months, it was determined Nicholas had a moderate/severe global delay. At this time at six months Nicholas wasn’t able to lift his head, or roll over. Birth-3 diagnosed him with low muscle tone at ten months old. Nicholas first sat up at ten months old, and started crawling at eighteen months.
Toddler age:
Due to Nicholas not progressing with physical and occupational therapy we were suggested to have Nicholas seen by a Neurologist, as well as an Orthopedic for further testing. Nicholas was fitted for AFO braces at eighteen months to help with gain the strength to stand and walk on his legs. He started walking right after his second birthday. Nicholas had two rounds of genetic testing done and a month after his third birthday he was diagnosed with the STAG-1 gene mutation. After turning three Nicholas transitioned from Birth-3 into the public school system at the special needs preschool his district provides. He is currently thriving there and enjoys time with his classmates.
Primary diagnosis:
STAG-1, low muscle tone, global delays in cognitive, fine motor, gross motor, and speech.
Challenges:
Nicholas struggles currently with safely navigating his surrounding, he still falls often. He has chronic constipation issues that is no tiered by his pediatrician and aided with enemas and prune juice. He gets easily frustrated when others aren’t understanding what he is trying to communicate.
About me:
Personality traits: Nicholas is such a joy, we always say he is one of the happiest, and silliest children to be around! He’s very compassionate, and he loves to make others laugh. His smile is contagious, and you rarely don’t see it! He’s very attached to his mommy and daddy, and his favorite people in the entire world are his big brother and sister. Even despite his challenges, his independence and determination triumph through all of it.
