This is a great story from the Courier in Scotland. Gillian Bayford, a landlord who won the lottery, is sharing her good fortune. In addition to supporting the remodeling of his home to support Blake McMillan’s special needs, she is directing all the rent paid by Blake’s family to support research on MECP2 duplication syndrome, the condition which affects Blake. For more info, see the original story in the Courier.
It is great to see creative ways that people are finding to support this cause.
…Time for Some Shameless Self-Promotion
I am really happy to announce that the 5th edition of Educating Students With Severe and Multiple Disabilities is finally on the brink of publication. In addition, to the 4 previous English editions, an Arabic and Korean Edition have also been published over the three decades since the first (1987) edition (pictured below)
Through all of those years I have been pretty passive about trying to promote sales of these books. This hasn’t been due to humility on my part; I think I have just been a little too socially awkward and insecure to make a sales pitch. Continue reading
Although MECP2 Duplication Syndrome (or Xq28 Duplication) is correctly identified as a rare condition, available research suggests that it is not as rare as we once thought. For example, Japanese researchers published a 2014 study in Human Genome Variation that described from results of 1,250 patients with intellectual disabilities who had not received specific diagnoses. The researchers performed advance genetic testing on these 1,250 patients and found probable genetic causes for 17% of these individuals. Many different genetic conditions were found among these 17% of patients. However, one condition was found more frequently than any other. That condition was Xq28 duplication with duplication of the MECP2 gene. This suggests that MECP2 Duplication Syndrome is not nearly as rare as once believed and that many cases continue to go diagnosed.
In the words of the researchers: Continue reading
Special thanks on behalf of families of individuals with MECP2 Duplication Syndrome to my colleagues Fred Orelove and Donna Gilles who have decided to assign 100% of the royalties of our forthcoming book, Educating Children with Severe and Multiple Disabilities to support research efforts to find new and better treatments. Royalties will be paid to the MECP2 Duplication Syndrome Fund at the Rett Syndrome Research Trust.
Fred and Donna have been leaders in the field of developmental disabilities for decades. Continue reading
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.
Families of children with MECP2 Duplication Syndrome and their families have banded together to raise public and professional awareness of the condition, support families, and to raise money for critical research.
Here are a few examples of recent news coverage on their activities.
Flemington tricky tray raises $11,190 for MECP2 Duplication Syndrome
Londonderry Township boy inspires ‘ultramarathon’ athlete, who raises money for van
Blake McMillan Trust receive £350 from youngsters Continue reading
23 November 2012 The Australian Broadcasting Corporation MECP2 aired a great segment on MECP 2 Duplication Syndrome featuring the Holland Family and the Wright family. It is available on-line at this link. The segment has sparked a lot of interest in the condition. Concurrently with this broadcast the new Van Wright Foundation website on MECP2 Duplication Syndrome was also launched.
26 March 2011 Families of children and adults with MECP2 duplication syndrome have been working hard to raise cash to fund research that may lead to effective treatment. One part of their effort is collecting votes in a contest that will award $5,000 toward this research. With just 4 days to the polling deadline, they have a narrow lead, but competition is stiff. If you want to support their effort, follow this link and vote for Alli Holland’s dream.
Good News! Congratulations to everyone who participated in the 401 Project! They reached their first goal, raising $80,000 to get research started, and they reached it well ahead of their April 1, 2012 target date They will soon be announcing a new target to further research efforts to better understand and treat MECP2 Duplication Syndrome.
Australian R’ee Wassenberg released this video tonight in support for the Project 401 effort to raise funds for research on MECP2 Duplication Syndrome
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: http://www.401project.com/