Luciano Angelo

Meet Luciano Angelo, born on October 27, 2021. Luciano is our third son. We have twin boys who were born in October, 2017. Luciano is named after his father’s grandmother (Lucy) and his mother’s grandfather (Angelo). The name Luciano means ‘light’ and Angelo means ‘angel,’ the perfect name for our little boy. Luciano went home perfectly fine, easier than when his older brothers came home from the NICU almost five years ago. However, five days after birth he had his first “episode.” After explaining what the episode had looked like to his doctors, they concluded it was acid reflux. After that first episode, Luciano had three more episodes. I was able to take a video of the last one and messaged his pediatrician. The pediatrician then sent it to the neurologist and called us to bring him to the emergency room. After being put on an EEG and having another episode, the doctors confirmed they were seizures. Luciano then went under many tests, including MRI, spinal tap, blood work and head scan, all coming out negative. One last test was done, genetic testing, which would not come back for another two weeks. Luciano was put on Phenobarbital to control the seizures ever since that night. Two weeks went by and after thinking it was just neonatal epilepsy, we found out the diagnosis was a gene called PACS2 which our neuro never even heard of. Throughout that whole conversation we heard the phrases, developmental and intellectual delays and facial dysmorphia. After researching the gene and not finding many answers, we took Luciano to Boston Children’s Hospital where we met with Dr. Heather Olson who took part in finding this specific gene in 2016. The four hour drive from New York to Boston was worth it, especially since Luciano happened to have another seizure the morning of our trip! This was three months after his diagnosis and we realized it could have been the result of the Phenobarbital medication needing an increase. Dr. Olson, along with Dr. Wiltrout and the genetic counselor spoke with us explaining their findings of this gene. Since it is fairly new, there is not much about it. We were told to get his other organs checked to make sure they developed correctly, get him evaluated for Early Intervention to watch his milestones and keep control of his seizures. And we did just that. His echocardiogram, abdominal ultrasound and eye exam came back great. He automatically qualified for Early Intervention because of epilepsy and is getting physical therapy. He has mild low muscle tone and is currently 8 months old. He will be getting surgery this July because of an undescended left testicle which I happened to read in one research study of PACS2, but not sure if it is related to the gene. We would like to find more answers and be involved with the research process. We are currently enrolled in the Boston Children’s Hospital research study.

 

Treatment: Phenobarbital

Therapies: Physical therapy