|City||Sparta, IL, USA|
June 11, 2018Joel was initially diagnosed in utero with possible hydrocephalus due to enlarged ventricles. At that time his Mom was referred to a high risk OB GYN for further monitoring and testing. Mom had almost weekly Non Stress Tests and two amniocentisis' A fetal MRI was performed in late pregnancy showing complete agenesis of the corpus callosum. Joel was born full term with no immediate concerns. He failed his initial newborn hearing screaning, and a follow up ultra sound to the brain confirmed the diagnosis of ACC, there was never any hydrocephalus, the ventricles were enlarged due to empty space left by the missing CC. Joel was seen by Genetics early on and blood was drawn, we knew at that time there as a 10q26.3 microdeletion but we were told it was "insignificant" and nothing to worry about. Joel had low muscle tone as a baby, he had strabismus (surgically corrected) had a mild sub mucous cleft palette with chronic mild obstructive sleep apnea. Had his adenoids removed. Met all milestones late. Joel was accepted in to Early Intervention and had OT PT and SLT early on. Joel attended pre-k at our Primary school and attended Head Start. His social skills were lacking, played more laterally than with the other children. He has extremely impulsive behaviors, no natural fear of anything. Very high pain tolerance, low tolerance to heat, high tolerance to cold. Some sensory issues, hates loud noises, certain food textures etc. Started Kindergarten at our Primary school with an IEP/1/1 aide and pull out for SPED. It was a total disaster, his behaviors were out of control and he was punished for things he obviously could not control and were a direct response to his disability which at the time we thought was just his ACC. An advocate suggested we delve deeper into the chromosome disorder and upon extensive internet searching we found Unique and learned that Joel ticked almost every box for the 10q26.3 microdeletion disorder and that this as opposed to the missing part of his brain was a HUGE factor in his behaviors. Joel is now almost 10, he goes to a SPED school and just finished third grade, he is not reading and does only rudimentary math. He's verbal and his comprehension is ok. He's on methylphenadate for ADHD symptoms and that holds him steady in the morning but his afternoons are a struggle at school. He loves his pets, his few special people, x-box, iPad, riding his bike and swimming. Social interaction is hard and getting worse as he ages. School is a sore subject, we've presented reams of information to them re his brain abnormality and his chromo disorder and they've yet to come up with any real strategy to help him learn. We are attempting to get established with a new Neurologist and hopefully a new team of specialists to get Joel some supports in the many different areas he could use help.