About Dear Son

Dear Son is an 18 year old male born full term via c-section. The pregnancy was unremarkable and his Apgar scores at birth were 9 and 9. Within the first twenty four hours, he had difficulty breathing and turned blue. He was transferred to another hospital were a battery of tests were performed, including an EEG that was normal. He failed to achieve any milestones and at ten weeks, I became concerned that movements he was having were not normal. The abnormal movements were determined to be seizures. The seizures were so severe we were transferred to Big Academic Medical Center. The Pediatric Neurologist started him on ACTH therapy for infantile spasms; he was released after three weeks. He was started on seizure medications and has remained on them his entire life. He is severely retarded (nonverbal) and missed all of his milestones during his first two years of life. While he had no use of his hands/arms (apraxia), he was able to move his legs and feet; at his peak, he was able to walk on his knees. Toilet training was challenging due to his severe physical disabilities and his inability to sit up. He is aware of his urinations and bowel movements. Despite his physical and mental disabilities, he grew normally and from birth through puberty, remained at the 10th percentile for his weight and at the 75th percentile for his height.

In 2002, a geneticist at Big Academic Medical Center, discovered the ARX gene mutation. Dear Son was one of the first boys to test positive for the gene (first protein pattern) in the world; while normally this mutation is x-linked, Dear Son’s occurred at random. The mutation expresses itself in embryonic brain, endocrine pancreas, testes and most likely other tissues as well in addition to the adult brain, heart, skeletal muscle and liver. This mutation causes infantile spasms and dystonicus and people with ARX are born without any gaba, a key neurotransmitter. Dear Son appeared in the July 31st edition of the Journal of Neurology: Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. You can read about it here. His official diagnosis was, "Cryptogenic Infantile Spasms Caused by the ARX Mutation."

After his testing was completed, a Dear Son mouse was created to learn more about this gene pattern. The ARX gene expresses itself in vitro and while it is considered a “mild” gene defect as genes go, it can cause some of the most “severe” disabilities.

In addition to the seizures and dystonia, there are issues related to the pancreas and motility. Not much is known however since the gene is relatively new and there are so few cases. As testing of the gene gets more widespread, they expect the number of cases to grow. Over the past few years, additional patterns of the gene have been discovered.

In 2006, he was diagnosed with a progressive neurological disease related to the gene mutation. The progressive disease is caused by an abnormality with the dopamine receptors. He has been progressively losing skills and can no longer walk, stand, roll over, move his legs/feet, vocalize or clear his airways.

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