Kilometers 4 Carter is a cause close to our hearts at Child Neurology Consultants of Austin. The inspiration for the cause is Carter Halliburton, a young patient of pediatric neurologist, Dr. Karen Keough, who suffers from a rare, debilitating neurological condition known as SynGAP1.
This weekend on June 13, Carter’s father Peter Halliburton will be cycling 72-miles virtually in The Million Dollar Bike Ride for Orphan Disease Research coordinated by Penn Medicine. SynGAP1 is one of the many rare diseases that will benefit from funds raised during these virtual rides taking place all over the country.
SynGAP1 is a gene that provides instructions for making a protein in the brain that helps control nerve cell functioning. The gene is particularly important during the early stages of a child’s brain development. If it is absent it can affect cognitive ability and lead to delays of speech, motor skills, and other developmental milestones like sitting upright and walking. Along with weak muscle tone (hypotonia), other characteristics of SynGAP1 include recurring seizures (or epilepsy), hyperactivity, and autism spectrum disorder.
There are approximately 550 known cases of SynGAP1 diagnosed in the world today, and as of right now, there is no cure or treatment.
Carter was diagnosed with epilepsy, and specifically SynGAP1, at around 20-months old after his parents noticed he was missing developmental milestones and started having unexplained seizures–up to 75 per day.
He currently takes cannabidiol/CBD oil in the form of Epidiolex, a medication used to manage seizures. Carter also attends several forms of therapy each day to help with his physical movement as well as ABA therapy for behavioral, communication, and social skills.
His parents are happy to report that Carter is thriving because of these interventions, but he will still need round-the-clock care for the rest of his life until a cure or treatment is found.
Peter says that with the ongoing research being conducted by the SynGAP Research Fund, he believes that there is the ability “to significantly change the prognosis and improve the quality of life for our children.”
Dr. Keough, who is a board certified epileptologist, seconds the importance for continuous new research that may lead to an effective life-changing treatment. “New trials for genetic therapy will start in the next year or two for many different forms of genetic epilepsy like Carter’s,” says Dr. Keough. “If we can find an effective genetic therapy, we can make a lifelong impact.”
Child Neurology Consultants of Austin has experience treating a wide range of neurological and rheumatic disorders, including SynGAP1, in children from 0 to 21 years old.
For an appointment with one of our board-certified pediatric specialists, please visit us here.