Twins with Dopa Responsive Dystonia Celebrate World Rare Disease Day by Getting Their High School Involved
March 15, 2013
World Rare Disease Day was in full swing at La Costa Canyon High School in Carlsbad, as seen in the pictures below! Alexis Beery and her twin brother, Noah Beery, were diagnosed with a mutation in their SPR gene, one of the rarest forms of Dopa Responsive Dystonia. At just 16 years old, these sophomores at La Costa Canyon High School are pioneers in whole genome sequencing.
Their exact diagnosis was discovered after undergoing whole genome sequencing in 2010, resulting in full life for them.“Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.”
They are both currently on their high school track team. Their entire family have participated at many speaking events, telling their story–including speaking at the Celebration of Science at the NIH, keynote speakers at the Scripps Genomic Conference last year and a Quest conference. Mom, Rita Beery, was the keynote at Cold Spring Harbor Labs Genomic Conference and has spoken at events around the world, sharing Noah and Alexis’s story and how sequencing has saved their lives. Alexis has a heart to work with special needs kids and both Noah and Alexis want to spread awareness for rare and undiagnosed disease.
Their story has been featured on Good Morning America, the Today show, CBS Early Morning, NOVA, PBS, Discovery Health channel, the New York Times, and about 240 other publications worldwide.
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