"I hope when the time comes it is quick,"
"But I just don't think it's going to be."
"When she lost her voice, I just thought, these ain't signs of epilepsy, there's got to be some"
"Dr Mark Wardle, a consultant neurologist who authored the 2007 study, said there were a number of "common founders" with DRPLA in south Wales which had resulted in the current "cluster of patients in their 20s or 30s"."
Jessica began having seizures at age 10 and was diagnosed with epilepsy. The seizures remained uncontrolled and by 13 her legs began to give way, she struggled to walk and later lost her voice. At age 20 she is unable to walk or talk and faces progressive decline with a feared shortened life expectancy. Dentatorubral-pallidoluysian atrophy (DRPLA) causes progressive memory loss, personality change, impaired control of movements, muscle spasms, seizures and psychiatric disturbances. The condition is genetic with a 50% chance of transmission and has no known treatment or cure. A 2007 study found a higher prevalence in south Wales linked to common founders, producing a cluster of young adult cases.
Read at www.bbc.com
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