Mom fights for research for rare genetic disease that mimicked autism in her son
Dawn Jorgenson, Digital Content Editor, Graham Media Group
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Holding hands. (Photo by cottonbro from Pexels.)
This story is a part of our Something Good series, which is designed to remind you of all the goodness in the world: the moments that can make you smile, feel warm inside and applaud humanity.
When Connor Dobbyn was young, his parents began seeing developmental delays.
Until the boy was 10, doctors believed he had autism.
Connor’s parents tried aggressive occupational and speech therapy, but none of it seemed to help, so they took him to have genetic testing done.
Mom fights for research for rare genetic disease that mimicked autism in her son
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Mom fights for research for rare genetic disease that mimicked autism in her son
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The family eventually sought genetic testing to rule out other causes. That s when Marisa got a call from the doctor with a devastating diagnosis. She might as well have been Charlie Brown s teacher because I wasn t hearing a thing she was saying, Marisa recalled.
Connor is missing an enzyme in his brain, which causes damaging storage material to build up. According to his family, he will develop movement disorders, seizures and dementia as the illness progresses.
Currently, there are no treatments available for his variation of the disease, Type C. Marisa believes that s because it s not financially beneficial for pharmaceutical companies.