When Noah and Alexis Beery were diagnosed with cerebral palsy at age 2, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children’s problems that combined their mother’s determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center (HGSC) and the efforts of talented physicians from across the country.
When the twins reached age 4, it became apparent to their parents that the diagnosis of cerebral palsy did not match the problems their children were facing. Their mother did Internet research and found a description of a disease that fit her daughter’s diagnosis better – dopa-responsive dystonia.
Full Article at PR Newswire