Rare Pediatric Neurology: We Need an Investigation 

Our brains are a vital organ, they make us, us. They allow our fates to be decided, our laughter to fill a room, our ideas to be shared and our love to be spread. Many individuals make decisions early in their lives that affect their brain health well into adulthood. Drinking, smoking, the use of recreational drugs, lack of physical movement, not properly fueling our bodies, inhaling toxins, traumatic head injuries, being surrounded with loud sounds and even loneliness can trigger a loss of brain cells. When we’re young, often, we don’t consider that these factors can colossally affect our futures. These bad habits can cause strokes, Alzheimer’s, Dementia, different types of brain hemorrhage, Parkinson’s disease, Multiple Sclerosis, Lateral Sclerosis, and other brain conditions that can be easier to prevent early on. Although some of these cases tend to be occasionally genetic, such as Lateral Sclerosis, Dementia and Aneurysmal Subarachnoid Hemorrhage, we are still able to access more research for treatments and early preventions, considering these diseases were discovered as early as the 1800s. We have over 100 years of research on all of these different brain conditions, but unfortunately, the same cannot be said for newer and more rare conditions. 

Recently, two people in my life have suffered from brain incidents and conditions. One of my closest family friends, who I have known since birth, was recently diagnosed with an umbrella term of early-onset Dementia. Her Father is currently suffering from Dementia, and she suspects that her Father’s condition may play a role in her diagnosis, or the fact that she drinks alcohol often. In her 50s, she is being warned of the damage to her brain, just before her third marriage and a new chapter in her life. Only 5 percent (2,500,000) of cases of Dementia get diagnosed before the age of 65. In 2021, it was reported that less than 0.64 percent (50,000,000) of the world’s population suffers from dementia and 0.03 percent of the population is diagnosed with early onset dementia. Even with these small percentages, these numbers are large enough that when plugged into PubMed, the database for biomedical research, we receive around 8,133 results. 

Another case of a loved one suffering from a brain incident or condition, was when one of my teenage friends was awoken during their sleep, unconscious and foaming at the mouth from an unknown and undiagnosable incident. They woke up with a Paramedic, an EMT, aiders and several police officers surrounding them. It took them hours to be discharged from the hospital, the doctors presumed this incident to be a seizure, but they did not have any solid evidence. Even after seeing a radiologist and cardiologist, no diagnosis was achieved. The CAT Scan reported that there was no hemorrhaging inside of their brain. Even with their father having sleep apnea, a disorder that causes breathing to halt during sleep, usually obstructive, produced by a collapsed or blocked airway, often causing unconsciousness and especially occurring in older and more overweight males. My friend is neither older nor overweight, so the doctors ruled this condition out. To this day, we still have no idea what this alarming experience was or what it was even caused by. Doctors, unsure, still presume it to be a seizure, having no solid evidence for this diagnosis. 

Neuroscience research is often focused on neurological disorders that occur in older individuals, neglecting the overlooked and disregarded brain conditions that arise in younger individuals and frequently have unknown causes. The neurological disease, Rasmussen's Encephalitis (RE) is often a victim of being overlooked by Neuroscientists when conducting their research. Rasmussen's Encephalitis is a chronic and inflammatory disorder often affecting those under the age of 10. It typically affects one half of the brain, leads to cognitive decline, seizures and deficits. The initial stage is characterized by Focal seizures, these typically involve muscle activity affecting motor skills and occur from a specific part of the brain once nerve cells set out uncontrolled electrical signals. The second stage is Epilepsia Partialis Continua where the child experiences extended and repeated focal seizures. The third stage is neurological deficits appearing, paralysis, weakness in muscles, change in cognitive function, language distortion, changes in behavior and impaired motor skills occur in victims of Rasmussen's Encephalitis. The final stage is Hemiplegia, where victims can experience paralysis or weakness on one side of the body, this can affect coordination and impairment for a lifetime. The only treatment that has been discovered for Rasmussen's Encephalitis is a surgery that removes one part of the brain, which is a cerebral hemispherectomy that can lead to developmental problems, loss of vision, brain infection and bleeding, it can also lead a patient with permanent cognitive and motor impairment. Not only that, the surgery only has a 15% success rate of completely eliminating seizures. 

 Of the ⅙ of the the population that the UN states suffers from a neurological disorder (1.262 billion), only 31.25% of that number are children (394.375 million). It is understandable why a disease like Rasmussen's Encephalitis would have only 768 search results on PubMed (as of June 21st, 2023), considering that there are less than 500 cases worldwide. However, this case number does not account for the number of children that go undiagnosed with this disease and other undiscovered neurological disorders that occur in minors. So many chronic brain conditions are neglected due to the lack of research of the conditions that affect children and adolescents. A top American hospital, Cedars-Sinai, was unable to detect the cause of Rasmussen's Encephalitis and many write it off as an autoimmune response. There is no cure for this disease, even though it was discovered back in 1958. Of course, this discovery is not as early as when Hippocrates first encountered epilepsy, but the solid neurological research wasn’t done until John Hughlings Jackson laid the foundation for epilepsy research in 1890, noting seizures as “convulsions throughout one’s body”. As neurological research gets more advanced, the basis of Rasmussen's Encephalitis has yet to be discovered, let alone have a solid cure. 

Of course, medicine is still improving and we are only so far into science research to be able to unravel the mysteries of our neurological systems. There is a smaller patient pool of children whose parents can notice these differences in our neurosystems early on. Children’s young brains are still developing so it can be more difficult to understand the contrast between healthy neurological conditions and toxic ones. There is a lack of funding to research the underlooked and life-threatening diseases like RE. Such as Alternating Hemiplegia of Childhood, Landau-Kleffner Syndrome and even more chronic neurological conditions that go unnoticed, even when crucial for a child’s well being as well as development.

But with improved research for Pediatric Neurological conditions, we can make a difference in the lives of children worldwide. My hope for humanity is to advance research, specifically regarding rare neurological conditions that occur in children. In order to save the minds of future generations that could possibly save the world, we have to save them first.