The MECP2 Duplication Syndrome Family Talk Facebook Group
This is a private Facebook group that links approximately 750 individuals from families affected by MECP2 Duplication Syndrome from around the world. Some members of the group are regular Facebook users while others become Facebook members solely to access the family talk group. Group members share practical information and social support.
Parents, Grandparents, Siblings, and other relatives of children or adults with MECP2 Duplication Syndrome are welcome to join the group. Since family can be loosely defined, parents and guardians can choose to extend memberships to friends, caregivers, or others who they consider to be part of their families. Decisions about these “extended family members” are up to the parents or guardians of the individual with the syndrome.
Researchers or professionals in health, education, or other disciplines who are working in this field may request membership. These requests will be discussed among group members via the Facebook group, and approved only if their is strong support for confirming membership.
To join the group, you need to follow these steps: Continue reading
Great new video highlights the kids with MECP2 Duplication Syndrome and their families.
This great video was released on Christmas Day 2015. Thanks to Joe Mendoza and his colleagues for another great video… and of course, thanks to all the families who participated.
GEMSS: Genetics Educational Materials for School Success is a website that provides educational materials for school personnel to support the inclusion of students with genetic syndromes in the classroom. They have recently added a useful section on MECP2 duplication syndrome.
The site also includes a sections on many other genetic conditions, such as Rett syndrome and Angelman syndrome.
Regardless of the school placement of your child, this can be very helpful information to share with your child’s school.
Families of individuals with MECP2 Duplications Syndrome in the USA should be aware that MECP2 Duplication Syndrome is one of that conditions that qualifies individuals for the Social Security Administration’s Compassionate Allowances program. Applying under this program may simplify and a shorten the application process.
SSA’s information on MECP2 Duplication Syndrome can be found at this link.More information on the Compassionate Allowances Program can be found here.
Joe Mendoza’s excellent 5-minute trailer tells the story of his son Levon who has MECP2 Duplication Syndrome and his family.
Great work by everyone involved! Looking forward to the full-version.
Director, Joseph Mendoza
Editor, Jenn Dorn
DP, Donavan Sell
Producer, Michael MacDonald
Op de Nederlandstalige website www.mecp2.nl vindt u informatie zoals symptomen, specialisten en nieuws over het MECP2 Duplicatie Syndroom. Deze relatief zeldzame aandoening komt in tegenstelling tot het Rett Syndroom voornamelijk voor bij jongens en wordt gekenmerkt door een ernstige tot zeer ernstige ontwikkelingsachterstand, hypotonie (lage spierspanning) en frequente (luchtweg-) infecties. Ook voor een complete lijst met relevante wetenschappelijke artikelen bezoekt u www.mecp2.nl Continue reading
Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows: Continue reading
Last week there was a conference call that involved Physician and researcher Melissa Ramocki, Monica Coenraads from the Rett Syndrome Research Trust, and about 35 parents of children and adults with MECP2 Duplication Syndrome. The call includes a great summary of some of the current research. In spite of some extra noise in the recording it is well worth listening to. It is expected to be available on this link for another few weeks.
As more boys and girls are being diagnosed, thee has been a growing world interest in MECP2 Duplication Syndrome. The 401 Project and other fundraising efforts have also helped to raise awareness. Following site statistics for this MECP2 Duplication Syndrome Blog really indicates a great deal of world wide interest. Here is a graph that indicates where Google searches were initiated that led people to this site.
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Just a quick note to indicate that the information on the MECP2 Duplication Syndrome Family Talk FaceBook Group has been updated. Family members of individuals with MECP2 Duplication Syndrome are encouraged to consider joining the group.