February 2016 Family Spotlight: A World Filled With Abbreviations
February 13, 2016
In 2005, Jaxon entered life experiencing a traumatic birth with a nuchal cord (umbilical cord wrapped around the neck) three times, which required quick actions resulting in a fractured clavicle and physical stimulation with oxygen blow-by before he started breathing. Despite all of this, his Apgar Scores were normal and he and mom (Monica) were discharged after 2 days. At 8-months during a long drive across country (NC to AZ), we joked that Jaxon earned $1000 a day because he rarely cried. At 9-months, the pediatricians identified developmental delays resulting in referrals to neurology and physical therapy (PT). After neurology visits at UNC Chapel Hill, we left with the diagnosis of pervasive developmental delays (PDD-NOS). With all of this happening, I found out that I was deploying to Southwest Asia and would be gone for 9-months. Prior to my departure, Jaxon could barely walk at 20-months and was still non-verbal.
Living with autism (or not). After a referral to a developmental pediatrician in Wilmington, NC, she didn’t believe Jaxon had autism: she believed it was a mitochondrial problem. Supplements were offered and tried, but due to his oral aversion nothing was taken. Now in San Diego preparing for the early start program (3 years old), the school psychological evaluation resulted in a diagnosis of intellectual disability (ID), but after his second year the teachers observed non-social behaviors leading to a re-evaluation and diagnosis of autism. At 4 years of age while meeting with the developmental pediatrician to discuss Jaxon’s diagnosis, he stated that he didn’t meet the six criteria of autism. So I asked, which one did he not have? After discussions of Jaxon’s fascination with exit signs and other sensory objects, he was officially diagnosed with autism.
PT, OT, SLP, and ABA – a world filled with abbreviations. There are not enough hours in a day/week to get Jaxon the help he needs. Sitting in therapy waiting rooms watching parents doing everything they can to help, exhausted. No one really talks, except for that one, that one who absolutely needs to connect with others. Jaxon has received at different times more or less of one or the other therapies based on time and behavior management. Finally, we have found a balance for them all. Last year we started a pilot program through our regional center – called Spectacular Bond. The basis of Spectacular Bond is to “build the neural networks for self-regulation that must be in place before higher-level skills in cognition and language can emerge.” After doing several foundational programs for recognizing patterns and letter recognition, Jaxon has started the ASD Reading Program. Using a standard keyboard, Jaxon recognizes letters and hits the keys before the bubble with the letter gets to the top. Our neurologist and the developmental psychologist believe that Jaxon has the neurocognitive ability to develop meaningful communication through typing.
Rock the house. Before 1 year old, we observed subtle jerking movements, so an EEG was performed, with him moving during the procedure, that was reported as normal. Three years later, he was observed – stopping movement, staring, eyes fluttering, eyes rollback and then going limp. So a sedated EEG was performed detecting seizure activity. Now again with all of this going on, I found out that I was deploying again for 9-months to Southwest Asia. After departing, I heard the stories and eventually saw the scars on Monica’s arms from escalating behaviors as a result of Topamax and Kepra. Jaxon’s oral aversion makes it difficult to get meds into him. In December 2014, due to the flu, he stopped taking his Depakote resulting in an increased alertness, so we did not put him back on it. Eventually, we were able to get him to take 30 mg of Onfi, a Benzodiazepine, which is highly addictive. At 9 years of age after seeing breakthrough seizures a vagus nerve stimulator (VNS) was recommended; however, we requested a second neurologist’s opinion. After a non-sedated EEG with the magnificent help of our ABA tutor, Jaxon’s seizure types are absence, reflex and atonic (dropdown) seizures, which the VNS won’t have helped. We still needed a second med. A friend recommended cannibadiol (CBD), medical marijuana, based on another family’s similar situation. After obtaining all the appropriate paperwork, Jaxon’s seizures are under control with 5 mg of Onfi and 25 mg of CBD.
Search for the cause. Mitochondrial testing, Fragile X, long chain fatty acid tests, metals, microarray, and a long list of tests all resulted in negative or non-conclusive testing results. With our new neurologist, because of Jaxon’s seizures, she ordered a clinical exome (4636 genes) from Fulgent Diagnostics, which resulted in 10 genetic abnormalities with a brief clinical description of each that in part represented Jaxon. But, the picture wasn’t complete without our testing results, the parents. We were tested for the 10, nine of the genes we expressed, but it was SYNGAP1 6p31.2 that neither one us expressed, only Jaxon did.
Hope. Crazy excited, I quickly started searching SYNGAP1 and contacting both my geneticist and genetic counselor friends. Searching the Internet, I found the document Unique – Understanding Chromosome Disorders: SYNGAP1 Syndrome (www.rarechromo.org). As I read it, the clinical symptoms described Jaxon exactly. So much so, I took the quotes about Autumn, changed the name and gender and sent it to Monica. She was amazed at the description I had written about Jaxon until I showed her the original quote. She couldn’t believe it. We used to say regardless of the cause of Jaxon’s autism, we are doing everything with therapies to maximize his potential. Therapies have been instrumental to providing the help Jaxon needs and will continue. But now, to be given a definitive diagnosis of de novo SYNGAP1 Syndrome, there is new hope. Hope of the possibility of identifying a biopharma therapy or other to compensate for the clinical affects of his disease. We are excited for the opportunities ahead and being able to connect with others through Bridge the Gap. Cannot wait until November.