Boy has rare disease SPG47 only affecting 20 in the world - News Summed Up

Boy has rare disease SPG47 only affecting 20 in the world


The parents of a three-year-old boy are desperately searching for a cure after their son was diagnosed with a rare genetic disease that is only known to affect 20 people in the world. Then, at 10 months old, he began having breath-holding spells that turned him blue and landed the boy in the emergency room. It was there that a DNA sample from both parents determined that Ethan had spastic paraplegia 47 (SPG47) in December 2016. Spastic paraplegia-47 (SPG47) is an extremely rare, newly recognized genetic disorder resembling cerebral palsy. The family from Georgetown, Texas, has been involved with the nonprofit organization Cure SPG47 to raise money for a cure.


Source: Daily Mail January 05, 2018 00:03 UTC



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