Friday, October 28th, 2011
There was a mind-blowing segment on the Today Show the other day about twins, Noah and Alexis Beery, who were wrongly diagnosed with cerebral palsy. (Note, the narrator alludes to it as an “illness,” which it’s not—it’s a condition.) The twins had atypical baby behavior: they cried a lot, refused to nap, had low muscle tone and couldn’t crawl or sit up. Noah got an MRI at two years old; brain damage was found. Both he and his sister, Alexis, were diagnosed with CP. Their condition kept getting worse.
But their parents, Retta and Joe, suspected it wasn’t CP; Retta spent years researching her children’s symptoms. Then she saw a Los Angeles Times article about dopa-responsive dystonia, a treatable genetic disorder often mistaken for CP. Brains that lack dopamine can’t transfer messages between nerve endings, so it becomes hard to convert thought into action. People with dopa responsive dystonia might be able to walk for a few hours in the morning, for instance, but as the day progresses, they lose strength and become more impaired.
The disorder is treatable with medication. Alexis responded immediately and miraculously to it. “We had a daughter who was really incapable of doing anything herself. And within 24 hours of the first dose, it was almost like she was reborn,” Joe Beery said on the Today Show (this is when I started bawling). When Noah began showing the same symptoms, he was also given the medication and soon after, his symptoms also disappeared. Alexis and Noah are now healthy, active, “typical” teens—that’s them above—who were featured on a Discovery Channel Show called Mystery Diagnosis. When a young boy in a wheelchair saw the show, he told his mother about it. His life, too, was transformed.
These stories are fascinating. If you have a child with cerebral palsy, as I do, they might make you wistful. While I do not mourn my son’s CP and adore every inch of who he is, if it were possible to make it all go away with a pill, of course I would.
Dr. Nancy Snyderman pointed out in the segment that most kids are accurately diagnosed with CP. But still, raising awareness about dopa-responsive dystonia could help other kids avoid a misdiagnosis.
And one other thing? Mommy intuition can’t be beat.
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Tags: Alexis Beery, dopa-responsive dystonia, health, Noah Beery, Retta Beery | Categories: Autism, Cerebral Palsy, Children With Special Needs, Disability, Down Syndrome, Must Read, SPD, Special Needs, Special Needs Parenting, To The Max