Brian "Bubba" Thomas Young was born November 30, 2013 with a rare genetic birth defect. Bubba was born premature at 31 weeks with no indication of health issues while in utero. At the time of his birth, the doctors struggled to understand why he was born early, but they said it just happens sometimes. After many tests, including a brain ultrasound, and 3 weeks in the NICU, the doctors determined that Bubba was healthy enough to head home just in time for Christmas. As the months went on, Bubba grew to be a seemingly healthy baby boy. However, developmental milestones were not getting met and questions started to appear. We first chalked up the missed milestones to him being "two months" behind every child his age because of his premature birth. The pediatrician didn't seem to be concerned so we sought out early intervention services to have Bubba evaluated. Bubba began physical therapy and occupational therapy through the state program Missouri First Steps and through St. Louis Children's hospital. The therapists did not see great improvements, so they suggested for Bubba to be evaluated by a neurologist. Our pediatrician thought he didn't need to see a neurologist. Needless to say we found a new pediatrician who fit our needs better and referred us to a neurologist at St. Louis Children's Hospital.
As the months passed, it became apparent that Bubba definitely had cerebral palsy, but the cause of it was still unknown. In addition, we started to see signs of seizure activity. Due to the high demand of neurologists, we had to wait 5 months to be seen. Once we had our initial evaluation (Bubba was about 15 months), the neurologist told us that from the looks of it he could definitely confirm cerebral palsy and epilepsy. To have the formal diagnosis, Bubba had to have an EEG and MRI of the brain done (we had to wait 2 more months for these tests). A few days after both the MRI and EEG, we had a formal diagnosis. Bubba was diagnosed with Neuron Migration Disorder with Cortical Malformation. Essentially this an umbrella term for different brain abnormalities that occur when the brain is developing in the first 6-8 weeks. The embryonic neuron cells are supposed to migrate in layers to form the various structures of the brain, but Bubba's brain did not do this. Bubba has 3 abnormalities: Pachygyria (areas of less folding in the brain), Heterotopia (clumping of gray matter in frontoparietal are of brain), Colpocephaly (enlarged later ventricles). These structural abnormalities are what cause Bubba to have spastic quadriplegic cerebral palsy and epilepsy.
Because of the varying degrees that exist with Neuron Migration Disorder, there is not one case that is exactly the same. We are unsure of what the future has to hold for Bubba, but he has shown great potential for cognitive development. Although Bubba is one of the more severe cases, he continues to amaze doctors, nurses, therapists, teachers and mommy at what he is able to do. Recently because of decline in muscle control in his trunk, Bubba had surgery to have a g-button placed to eat. He is no longer taking any food by mouth because of his choking risk and everything is through his g-button in his belly.