Long journey for a diagnosis

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Kyle had symptoms from birth- difficulty feeding, severe reflux, hypotonia, exaggerated startle, and missed developmental milestones. His seizures started at 9 months of age. He went on to develop Parkinsonism (tremor, ataxia). When he would get sick with a cold or flu, it would make him very sick. At age 6, he was diagnosed with SCAD, one of the Inborn Errors of Metabolism. Later, it was discovered that his dad had the same mutation and was asymptomatic. We were advised that Kyle’s symptoms were different and more severe than they would have expected for SCAD alone. The diagnosis journey began again. In 2017, at age 23, Kyle received the diagnosis of STX1B, de novo form. Kyle has developmental delay and continues to have movement disorder symptoms. He also has autonomic instability- heat intolerance and fatigues easily. He has been seizure free for the last several years. The diagnosis journey was long and arduous with substantial testing, but whole genome sequencing finally provided the answer! Though there is no cure at this time, the good news is he will not be subjected to more testing! We are hoping gene replacement therapy will progress and one day be an option for Kyle.