MeCP2 Duplication Syndrome Means That 3-Year-Old May Not Walk, Talk
March 19, 2013
A 3-year-old boy from Scotland suffers from a rare disease that will eventually rob him of his ability to walk and talk, The Daily Record reported.
Blake McMillan of Longforgan, Perthshire, has MeCP2 duplication syndrome. The condition is so rare that only 120 cases in 36 families have been recorded around the world, according to the newspaper.“MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Approximately one third of people with this condition cannot walk without assistance.”
The genetic disorder means he will likely start suffering from seizures around the age of five, which will eventually cause his brain to stop functioning normally.
The condition was discovered in 2005 and has a life expectancy of about 25 years old.
“It won’t happen straight away,” Blake’s mother, Jenny, 36, told the Daily Record. “We’ve been told Blake is likely to gradually regress until he is a baby again.”
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