MECP2 Duplication (and also MECP2 triplication) 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. 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. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.
But it doesn't have to be this way......
The 401 Project represents the donation of $401.00 from the families of 200 boys and girls, by April 1st 2012. One hundred percent of these funds will go towards a potentially life changing experiment ready to begin at the Baylor College of Medicine headed by Huda Zoghbi. With funding in place, the experiment aims to REVERSE this syndrome in a mouse model.
~ The 401 Project is a parent initiative to help raise the much needed money for a reversal experiment for Mecp2 duplication (a rare genetic syndrome) that we hope will one day lead to a cure for our children and children in the future ~
To donate to The 401 Project please go to: 401 Project
For more information about the reversal please read: MECP2 Duplication Syndrome Fund
• Website for Families affected by MECP2 Duplication Syndrome: MECP2duplication.com
• More info:
For more information about Mecp2 Duplication/Triplication Disorder also known as MECP2 Spectrum disorder please read:
• Facebook Family Group.
A closed discussion group has been started on Facebook for family members of individuals with MECP2 Duplication Syndrome. MECP2families