Teenage boy with rare genetic disorder has “breakthrough periods” with improved ability to stay on task is more socially engaged after taking chylobinoid.

Our son, John, was 4 years old when he had his first seizure. Like many cases of epilepsy diagnosed during childhood, his was not a very typical presentation. He was simply found clinging to a piece of playground equipment, not letting go or responding to the adults who were supervising him at preschool. Another 3 months passed before he had another episode, this time witnessed by myself and my wife, Carol. It was terribly frightening, he was unresponsive and we didn’t know what was wrong. Of course, we started seeing a number of physicians who initially diagnosed him with Pervasive Developmental Delay-a scary enough diagnosis to receive as a parent in its own right, but his pediatrician, who had known him since birth and observed him meeting all of his milestones and being a very social and engaged 4-year-old was still suspicious. His episodes started happening more frequently and typically were accompanied by incontinence and at this point seizures were suspected. A local neurologist was actually suspicious that John might have Fragile X syndrome and sent chromosomes. It was then that we received the devastating news that John was mosaic for Ring 20 syndrome, a rare genetic disorder with only 50 case described worldwide at the time of his diagnosis. Children affected by this syndrome had varying degrees of difficulties and presentations, but were linked by severe, intractable epileptic seizures. We started to see epilepsy specialists throughout Chicago and even traveled to New York to see a neurologist who had seen one patient with John’s diagnosis in the past. His seizures started to happen more frequently, several times a week, by the time he was 6, and several times daily by the time he was 10. All the while we have tried different combinations of medications-23 different anti-seizure meds and countless combinations of them.

We began to see an epileptologist at Northwestern’s Children’s Hospital who had some experience with genetic epilepsy syndromes. Based on his recommendation, in addition to the multitude of meds, John spent 6 months on a strict ketogenic diet, no small feat for a 10-year-old boy. Still his epilepsy progressed. Despite unbelievable support by our school system, he began to fall behind his peers academically and socially. His seizures gradually increased to between 5 and 20 seizures a day-some generalized tonic-clonic during which we would helplessly watch his lips turn blue. We sought opportunities to participate in study medications none of which we qualified for due to his extensive prior treatment. We considered VNS surgery, but this was thought to be unlikely to help someone with John’s disease. For several years we sought an opportunity for Joh to be treated with a cannabinoid-based medication, but for various reasons were declined. Ultimately, John’s Northwestern based neurologist encouraged us to seek help elsewhere as he agreed this was the next logical direction in which to go, but he was bound by institutional constraints not permitting him to care for John while taking such a medication. It was at this time that we were fortuitously directed to Dr. Scott Palmer and Dr. Michael Smith at Rush University.

Dr. Smith had some experience treating intractable epilepsy with CBD and Dr. Palmer was connected with Synthonics, a company developing hemp-based CBDa to treat various medical conditions. Dr. Smith agreed that proceeding to a trial of CBDa to treat John’s seizures was the best next step for us to take. We began treatment with CBDa in March of this year and steadily increased the dose. Since then John’s seizure frequency has progressively lessened and he’s begun to have “breakthrough periods” during which he’s demonstrated an improved ability to stay on task and during these times is more socially engaged. Another important aspect of this therapy to recognize is that, despite steadily increasing the dose of the CBDa over the past ten months, we have seen no untoward side effects-behavioral or medical. This has been a great relief to us as some of the previous anti-seizure medications John had been on had potentially severe and permanent side effects. We have also been carefully monitoring his levels of his other medications and have not seen any significant drug-drug interactions.  We continue to hope that this new medication is the missing key to John’s seizure control. Regardless of the outcome, we will remain deeply grateful to the efforts of these physicians and scientists who have so generously shared their expertise, time and resources.