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Allison was born a very happy, healthy girl, with no complications. At a couple of months old, we noticed she didn't push with her legs when being held in "standing" position, like most babies do. As time went on, she also didn't roll over or sit up at the normal age, and every milestone was missed or severely delayed. Just before age 1, Allison began what would become a long series of tests, dead ends, and misdiagnoses. In the meantime, we began physical, occupational, and vision therapies. Allison learned to walk independently at age 3 but she fell a lot and couldn't balance well. She couldn't climb and run on playgrounds and such, so she found her happy place in calm, sedentary activities like art, puzzles, and playing in the sand. She still loves these sorts of things! When it was time for an MRI, luck brought us to the same hospital where a doctor who was studying Allison's specific brain malformation worked. We joined the research group, took DNA samples, and waited. When she was about 5, we got a phone call telling us they finally discovered what had caused her malformations (though they didn't have a name for it yet, it was TUBB3!) We only knew of a handful of other cases and no data to go off of to determine her prognosis. We are thrilled to be connected with so many others with her same diagnosis now. Now, Allison is a teenager and though she still struggles physically and intellectually she is thriving. She is still happy and healthy. Some of her ongoing symptoms are low muscle tone and control, balance issues, learning disabilities, mirror movements in hands, an involuntary head tic, and oculomotor dysfunction. We don't know if she will ever be completely independent, but she surprises us all the time with the things she does, so maybe!
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