Giovanni's Story

Giovanni Luca was born on August 22, 2012, after years of fertility treatments complicated by several losses, illness, and surgeries. Giovanni was conceived via IVF. He was originally a twin, however, the other baby’s heart suddenly stopped prior to the 2nd trimester. The pregnancy was filled with complication after complication including preterm labor at 23 weeks as a result of incompetent cervix, an amniotic fluid leak at 29 weeks, and failed BPP’s at 34 weeks. After facing a multitude of pregnancy complications, labor and delivery proved to be just as eventful. After 27 hours of labor, and almost 3 hours of pushing, Giovanni was born by manual extraction after three failed attempts with the vacuum. These heroic measures were taken as his heart rate was hovering in the 50-60bpm range for nearly 30 minutes.

Shortly after coming home from the hospital we started to realize that something wasn’t right. He ended up being readmitted to the hospital within 24 hours as he had lost more than 10% of his birth weight. He really didn’t have much interest in eating, not to mention, he was vomiting what little he did eat. At 4 weeks old it was discovered that he had a tongue tie and an upper lip tie which was surgically corrected shortly thereafter. Although this somewhat helped to improve his ability to latch, he was constantly choking when he ate. We suspected that the source of this choking was reflux so it was decided to start him on medication. Even with the medication, there were several occasions where the choking became so worrisome that we almost called 911. The only thing that seemed to give him relief was thickening his breast milk and formula in a bottle and using a preemie nipple. He struggled to gain weight so ultimately he was diagnosed with failure to thrive. Shortly after receiving this diagnosis, an upper GI study was conducted which showed reflux and delayed gastric emptying. It was also suspected that he had a milk protein intolerance so I went completely dairy free so he could continue to have breast milk and we switched his formula to a medical grade formula.

In addition to all of the feeding/swallowing difficulties, we also noticed that he had these jerky movements that almost appeared to be seizure like. Although they had been present since birth, we never worried about them too much as the pediatrician said it was most likely due to an under-developed nervous system. As time went on, these jerky movements did not resolve and we also started to notice some weakness on his left side affecting both his arm and leg. Finally at 3 months old, he was referred to physical therapy where he was diagnosed as having torticollis and plagiocephaly which still didn’t explain the jerky movements. After little improvement was seen with the plagiocephaly, it was decided that he needed to go see a neurosurgeon to rule out craniostenosis. Luckily the x-rays were negative so it was recommended that he be evaluated for a cranial band, which he ended up finally getting when he was 7 months old.

When he was 9 months old he was finally referred to a neurologist to be evaluated based on the recommendation of his physical therapist and my persistence regarding something being wrong. The neurologist suspected that with all of the pregnancy and birth complications that he probably sustained some type of brain injury, resulting in cerebral palsy. He recommended that we do an MRI to confirm this.

On August 14th we went for an MRI of his brain. Since he is was young, they had to put him under general anesthesia to prevent him from moving during the imaging. The entire process took about three hours. Once he was awake and the nurses observed him for a while, we were free to leave where we would have to wait until our follow up with the neurologist 12 days later to get the results. At exactly 4:39pm that afternoon the phone rang. When I noticed on the caller ID that it was the hospital calling, I figured that they just wanted to check in to see how he was doing, so I was a bit taken back when I heard the neurologist’s voice. The first thing he asked me is if I was home. When I told him I was, he asked me if I was alone or if my husband was present. My heart immediately sank as I knew something wasn’t right. He obviously heard the panic in my voice as he asked me to sit down as we needed to talk about a few things. He then proceeded to tell me that Giovanni’s MRI was abnormal. He didn’t want to go into great detail over the phone but I demanded information. He gave me a quick rundown of the findings but asked us to come in so we could go over everything together. Luckily we were able to get in the morning of the 16th, just two days later.

Giovanni was diagnosed with periventricular heterotopia. It is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.

This condition is affecting the right side of his brain. With the area of the brain that this condition affects, most diagnosed with this disorder (>90%) develop epilepsy, where in some cases the seizures do not respond to medication and only drastic measures (frontal lobe resection) can help control the seizures. While most with this condition are of normal intelligence, there are some intellectual challenges, namely dyslexia, reading/spelling difficulties, and occasionally, the inability to speak.

The MRI also showed that he has a large porencephalic cyst, 23.7mm to be exact. Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and mental retardation.

Since receiving Giovanni’s diagnosis back in 2013, we have come to realize that the future is unknown. After traveling to Children’s Hospital in Boston to be a part of their Brain Development Clinic, we have learned that what Giovanni has is unique to him. The neurologist in Boston said that what he has is not in any textbook and while little information can be found on periventricular heterotopia, even less exists on porencephaly.

Giovanni is a very bright, happy, and energetic little boy. He has a smile and a laugh that will make your heart melt. He currently receives therapy (physical therapy, speech, occupational therapy, and special education) in our home 4-5 days a week. He has delays in both gross and fine motor skills, speech delay, sensory processing disorder, and epilepsy. He wears AFOs (ankle-foot orthosis) to help him walk. We are working on sign language with him as well as the Picture Exchange Communication System, to assist with his speech and overall communication. While is speech is quite delayed, he is starting to make strides with his speech-language pathologist. We are just taking things one day at a time.

To stay up to date with Giovanni's progress, please follow his page on Facebook, Giovanni's Journey.