Category Archives: Videos

We are the Families Video

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.

Advertisements

Scotland’s STV on Reversal

This STV news story with Jenny and Blake McMillan provides a personal perspective on the recent Nature publication of a groundbreaking study showing that MECP2 Duplication Syndrome can be reversed.

Zoghbi Lab Reversal Study

News icon25 November 2015 Today’s publication in Nature:

Yehezkel Sztainberg, Hong-mei Chen, John W. Swann, Shuang Hao, Bin Tang, Zhenyu Wu, Jianrong Tang, Ying-Wooi Wan, Zhandong Liu, Frank Rigo & Huda Y. Zoghbi (2015 November 25). Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature doi:10.1038/nature1615

Dr Zoghbi explains what they have accomplished in this video from the 401 project. Video created by Joseph Mendoza.

The  article in Nature is what families have long been waiting and hoping for. Continue reading

Drop Seizure Video

This YouTube video looks a lot like what has been described as a drop in individuals with individuals with MECP2 Duplication Syndrome. The individual in this video does not have MECP2 Duplication Syndrome, but the video provides a good example of what some drops look like.

The text below is the original text accompanying the video on YouTube. Continue reading

Video: MECP2 Duplication and Hope for Families

This 5-minuted video from Joseph Mendoza does a superb job of telling the story of children and adults with MECP2 Duplication Syndrome and their families.

Andrew Solomon on Parents of Children with Severe Disabilities

I am sorry that I have been neglecting this blog. I’ve just been trying to balance too many things. This excellent video from Andrew Solomon is definitely something that parents of children with severe disabilities need to access.,,, and it inspired me to try to catch up. See previous post on his book, Far From the Tree, for more on the book this is based upon.

Video

Walking at various ages

This compilation of home videos illustrates one individual with MECP2 Duplication Syndrome and his walking at various ages over a period of two decades. It indicates his progression and regression of skills. Of course, every individual with MECP2 Duplication Syndrome is different, many will never walk and some will begin walking younger, develop even more advanced skills, and maintain them longer. We are sad to see some of Dave’s skills slipping away but grateful for what he was able to achieve and what he still can do. I think Dave’s walking, however, is fairly typical for those who do develop walking.

Finding a cure – Rett Syndrome and MECP2 Disorders

Another new short video from Joseph Mendoza makes the case for joining research efforts on MECP2 Duplication Syndrome, Rett syndrome, and other MECP2-related disorders.

Continue reading

Cannabidiol Update

This 15 -minute video combines the original youtube video with some of Sanjay Gupta’s CNN report. It is very hopeful. While these video’s report on children with Dravet syndrome at least one family is now trying it with their child with MECP2 Duplicatio Syndrome and reporting encouraging results.

Levon’s Light

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