Rocco

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2 years old
Wexford, Pennsylvania

Rocco’s Journey

My husband and I live in Wexford, Pennsylvania and have 4 children. Rocco (2) is our youngest. He has big sister Sienna (10), big brother Nolan (8), and big brother Pio (5) to help love and care for him.

Rocco’s journey started when he was about five months old, and he was not meeting his age-appropriate milestones. We also noticed his eyes kept crossing and were not straightening out. Shortly after, Rocco was diagnosed with strabismus, nystagmus, and was visually impaired. We then started introducing baby food and he was having difficulty swallowing and managing food in his mouth. He was soon diagnosed with Hypotonia and Global Developmental Delay. Rocco started several therapies: Physical, Occupational, Food, Vision, and Developmental. Then out of nowhere came food allergies, which caused a major setback with his food consumption.

At about his one year birthday, he was rolling over and sitting on his own. We had an MRI done when he was one, and it came back normal. We also did the first round of genetic testing. Nothing alarming showed up on the MRI or the genetic testing.

At this time Rocco was really struggling with food, but fortunately, I was still nursing. At 15 months, Rocco stopped breastfeeding and was able to take a bottle and started eating baby food more regularly. We had swallow studies done because he had such a hard time eating and drinking. “All normal” – he just was moving at his own pace. Shortly after Rocco was diagnosed with failure to thrive. We decided to start him on Kate Farms formula. After about 6 months, he was gaining and doing wonderfully with his nutrition; however, Rocco started experiencing severe constipation.

When Rocco was about 16-17 months old, I noticed some head movements I had never seen before. I contacted his neurologist, and Rocco had his first EEG. Within hours of completing the EEG, Rocco was admitted to the Children’s Hospital of Pittsburgh for three days. He was having around 80-95 seizures a day. We then decided on more genetic testing and were discharged. A few weeks later, in August of 2022, the results came in that Rocco has SYNGAP1. We continue to have EEGs and his seizures are still not under control.

At around twenty months Rocco started Speech Therapy twice a week.

Rocco is currently being seen at the Children’s Hospital of Pittsburgh and The Children’s Hospital of Philadelphia. The goal for Rocco right now is maintaining his happiness and finding seizure freedom. We are currently trying to find that balance for him. Rocco’s diagnoses include SYNGAP1, Epilepsy (Eyelid Myoclonia), CVI, Hypotonia, Strabismus, Nystagmus, Constipation, Head Banging, Food Allergies (milk/egg), and he is non verbal.

Rocco is almost 2-1/2 years old and is cruising around the furniture, climbing stairs, enjoying bath/pool time, taking walks in his radio flyer, and enjoying life. He LOVES to eat, and I mean everything from pork and sauerkraut to sushi. He has truly moved mountains since his diagnosis, and we continue to praise and support our little man Rocco in every way possible.