CHD2 Awareness Day 2022
(written by Juli Henderson)
When I began sharing our family’s story over 10 years ago as a volunteer and member of the Board of Directors at Any Baby Can of San Antonio, I never imagined that our story would be the catalyst for our InOurArms.blog. Today, we share our journey openly with others with a desire to connect families and bring attention to medically complex individuals in our communities.
My husband of 41 years, Chris, and I have five adult children. Last year, I wrote about my admission into a very exclusive, special-invitation-only parent group that will define the rest of my life. This group is comprised of parents like me who really did not want to be invited to join…parents who cared for a special child like our precious youngest son, Robert.
Although I often choose to mention only a few of Robert’s medical diagnoses because of their complex nature, Robert had a CHD2 variant and mitochondrial disorder that involved a variety of body systems including the brain and muscles (causing all types of seizures, poor stamina, muscle weakness, lack of muscle tone), and the nervous system (heat intolerance, excessive sweating). He received his conclusive genetic testing results at around 8 years of age. Years later as additional genetic testing developed, we underwent parental genetic testing to rule out the possibility that our other children could pass this on to the next generation. Thankfully, they cannot.
Over the years, Robert’s symptoms became especially severe during ordinary infections, often with ordinary exercise, and with excessive heat or humidity. As you probably well know already, his disease was progressive, and he was eventually diagnosed with cerebral palsy, autism, and intellectual disabilities. He would sometimes spend days in the hospital to control his hundreds of seizures.
Robert’s wonderful medical team, under the direction of Texas pediatric neurologist Dr. Karen Keough, treated Robert for most of his life. His treatments included every avenue possible to lessen his seizures and regression. He was prescribed almost every new epileptic medicine available, many years combining 3-5 anticonvulsants at a time just to keep him seizure free for a few hours at a time. Robert had a g-tube, corpus callosotomy (brain surgery), VNS (vagal nerve stimulator), and remained on the Ketogenic diet for several months at a time throughout his lifetime. His language was very sparse, but he found ways to communicate through gestures.
His CHD2 diagnosis and mitochondrial disorder had no apparent lasting therapies because energy cannot be therapeutically applied in a direct way. Robert was treated with vitamin therapy, nutritional support, and developmental/educational stimulation. We worked hard to prevent infections, and monitored him constantly for potential, treatable complications.
His school and all therapies (Speech, OT, PT, Behavioral) became a homebound priority. He had skilled nursing care for most of each day, and he required an enclosed Posey bed to keep him safe at night because of his seizure activity. Protective medical helmets were also necessary and helpful, as his drop seizures increased. As a teenager, he became wheelchair bound, but managed to always keep one to two iPads on his wheelchair tray!
Robert passed away at the tender age of eighteen on February 6th. During his short life, he was most known for his big, all-teeth smile, and his all-embracing hugs. His capacity to give and receive love was deeply moving.
I know for many of you reading this short description of the road we traveled as a family with our Robert may be hard to read. For others, it may be the exact account you need to help you pace yourself, prepare for the future and find blessings in the moments. I know the joy and heartache of life from his genetic formation to his last breath in my arms. I also know that many of you will not walk as we did, and your child’s life and load will be easier. I am passionate about the work to tell each child’s story – the very good and the unexpected.
We as a family will continue to honor Robert’s life through CHD2 and mitochondrial disease advocacy and support for families caring for a family member like Robert. There is hope. I appreciate so much what Coalition to Cure CHD2 is doing to provide expert research and advice to our medical community and families. We join you in the journey.
We celebrate CHD2 Awareness Day! Let’s get to work.