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When Tammy’s now-five-year-old son Hudson was two years old, he became the 38th person in the world to be diagnosed with a very rare genetic condition called GAND (GATAD2B Associated Neurodevelopmental Disorder). It was May of 2016, and up to that point doctors had been at a loss to explain what was causing Hudson’s developmental delays and persistent respiratory illness. If not for the availability of whole genome sequencing, Hudson might still be receiving therapies to help with his low muscle tone without his parents or therapists knowing precisely why he was not meeting the typical developmental milestones.
GAND severely affects speech, and most people who have it are also diagnosed with apraxia (a disorder of the nervous system that makes it difficult for people who have it to perform purposeful movements, but not due to a lack of understanding or paralysis). GAND can also affect cognition, along with fine and gross motor skills. In other words, a diagnosis of GAND is a world-rocking, completely-life-altering event.
Photos care of Tammy Ruh