The CHD2 Support & Research Facebook Group was one of the most meaningful groups I joined in 2019. When the question was asked if I wanted to help the group fundraise, I readily volunteered as I felt I discovered lost family members being a part of this particular group. However, being a single parent of 2 boys is a challenge, especially with one having disabilities so when I was asked if I would share my son’s story my heart quickly accepted. My daily reality of working full-time, consistent multitasking, insomnia with no support caused a slight barrier but like everything else in my life I pressed forward because sharing his story is liberating and necessary for the CHD2 community and the world.
I would like to introduce you to one of the kindest, charismatic, funniest young men I know; his name is Julian aka J-Love! He is now 18 years old and a Senior in high school. His medical journey started at the tender age of 5yrs; he had his first known Grand Mal Seizure on August 20, 2007, the start of kindergarten. It happened while playing coming down the sliding board. I remember vividly receiving the frantic phone call from the school nurse asking, “Does Julian have seizures?” I immediately replied, “No what’s going on?” I was then asked to come to the school ASAP as Paramedics was working on him. As I rushed to the school so many things were racing through my mind, WHY was this happening? Upon my arrival, he was postictal, and I was advised to follow up with his pediatrician immediately. The Pediatrician advised that I bypass a visit with him and referred me to see a Neurologist at Emory Neuro Clinic in Atlanta, Ga. Surprisingly we were able to get an appointment fairly quickly and a variety of test was ordered EEG, EKG, MRI, blood work; after receipt of results, he was diagnosed with Complex Partial and Absence Seizure types he was put on one medication, Keppra which was short-lived as it altered his behavior most aggressively. He became violent toward his brother, teacher, and classmates, I knew something was gravely wrong therefore I requested the doctor to take him off this medication.
In the weeks to months following the initial seizure, he continued to seize regularly mostly nocturnal while on 2 AED medications. Our world had changed instantly from a normal childhood experience to a nightmare! In the school setting, it became noticeable in 1st grade that he was not learning on pace and decline in his short-term memory. I had to request that he be considered for SPED skipping the normal tier process for placement as the school attempted to label him as a student with behavioral issues vs a newly diagnosed neurological condition combined with side effects from multiple medications that were altering his behavior, alertness, and focus. The entire IEP proceedings were intimidating with all the terminology, unexplained parental rights, unexplained accommodation/modifications that are available but if you don’t ask, they don’t tell the educational part in dealing with his condition made it that much harder.
Fast forward into his teens the progression of his Epilepsy worsened with different seizure types, multiple falls with major injuries, and many ER visits and hospital admissions at first I thought it was just his balance was off due to seizures only to discover from an MRI in 2012 mild atrophy of the cerebellum. After numerous failed medications the State of Ga had not legalized marijuana for medicinal purposes which were showing therapeutic benefits for children in other states with Epilepsy. Julian was selected to participate in the only approved trial study in GA to help legalize CBD for kids with Epilepsy. With the start of CBD start of a new medication, he had a 50% reduction noted in frequency and duration of seizure activity observed for several months. Unfortunately, seizure frequency returned but duration remained shorter I asked his Neurologist to order an MRI in Nov 2020 which showed changes in atrophy of the cerebellum from mild to moderate with an enhancement of the Dura mater. Due to this change, Julian went from being able to walk or run unassisted, feed himself without making a mess, toileting unassisted, bathing and getting dressed independently, and speaking more clearly. In addition to learning to cope with all the medical problems and the failed medications that contributed to his overall quality of life, he also experienced disability discrimination in the elementary school setting with improper repeated suspensions as well as at one of the Boys and Girls Clubs he attended one of the after school programs he attended for the past 10 years. His civil rights were violated and he was publicly humiliated by being denied to go into their bathroom to clean and change clothing after experiencing an incontinent episode of bowel/bladder and made to sit in a room for 6 hours in soiled clothing which later caused him to have a seizure due to his stress level. Later, they even managed to find a way for Julian not to return by saying the teen group was filled during 1st day of re-enrollment, but I was informed by an inside source that was not true they did not want to utilize staffing to accommodate for a child with his type of disability.
Finally, after 13 years of unknown etiology to his Epilepsy, his Neurologist recommended in January 2019 to have Julian take a new genetic test. This result was the discovery of finally knowing the cause of his Intractable Epilepsy, Severe Aphasia Developmental and Intellectual Delays, Major decline in Mobility and Function as well as fine and motor skills. This was the bittersweet news of CHD2. I have survived this medical storm with my sweet Julian because of my faith in God and my witness of the warrior strength, no complaining, and loving spirit he displays daily. All these years motivate me to keep believing change for the better is coming. His older brother and I are determined to fight the good fight with him and make necessary adjustments to ensure Julian knows his life has value, he is loved and we will continue to advocate to increase society’s awareness of how important collective support in scientific research is for development of a targeted therapy that may one day land us on the path to a CURE. My prayer in sharing our story is that other families especially those that are African American know that you do not have to feel alone, get involved. We have a dedicated Coalition of parents striving for a CURE to CHD2 for ALL!