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 fetal distress at 34 weeks. After facing a multitude of pregnancy complications, labor and delivery proved to be just as eventful. After 27 hours of labor, 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 still experiencing frequent choking episodes. 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 to a prescription formula.

In addition to all 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 underdeveloped 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 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 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 the pregnancy and birth complications that he probably sustained some type of brain injury, resulting in cerebral palsy. It wasn’t until after having a major developmental regression, that he recommended that we do an MRI.

On August 14th we went for an MRI of his brain. Since he 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.

The MRI showed that he has a large porencephalic cyst. 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.

In October of 2016, while at preschool, Giovanni started experiencing visual disturbances, nystagmoid movements, and temporarily lost the ability to walk. An MRI showed that he had experienced a probable infarct in the left thalamus. It was decided that exome sequencing was the next step. It was found that Giovanni has an extremely rare heterozygous maternally inherited variant in the gene CACNA1H. We know that this gene is associated currently with epilepsy as well as autism, primary aldosteronism, and ALS. It is in the family of genes related to calcium channel disorders.

Today Giovanni is a very bright, happy, and energetic boy. He has a smile and a laugh that will make your heart melt. He has delays in both gross and fine motor skills, spastic paraplegia, sensory processing disorder, and focal, absence, and atonic seizures. He wears AFOs (ankle-foot orthosis) to help him walk. He continues to exceed everyone’s expectations.