Project 401 Video Released

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/

In the News from Washington State

Families band together to unlock mysteries of rare genetic disorder

by Cathy Zimmerman in Washington’s The Daily News is about Jay Hegstad-Enneberg and the 401 Project. It includes a link to the project. Here is a brief quote:

In January, those 200 families banded together to raise $236,000, the amount necessary to fund research directed at unlocking the mysteries of MECP2 at Baylor College of Medicine in Houston.

The group calls itself “The 401 Project,” because $401 is the amount each family must raise to fund the research.

Click here for the whole story…

MECP2 Triplication Syndrome

As the name implies, some individuals with extra copies of the MECP2 gene, actually more than one extra copy. This affects a small percentage of cases. While these individuals are commonly identified as having MECP2 Duplication Syndrome, they are sometimes identified as having MECP2 Triplication Syndrome. Both labels are correct. They do, after all, have a duplicate copy of the MECP2 gene, but they also have an additional duplicate.

Immunocompromise, Hot Water, & Legionnaire’s Disease

A tragic case of individual with an intellectual disability being scalded by hot bathwater has raised the issue here in Alberta of whether caregivers should lower hot water tank temperatures to prevent scalding. One’s immediate reaction might be to lower water temperatures to a safe level. Typically this is described as 120° F or 49° C. Doing this will greatly reduce the risk of scalding, save a few dollars on medical bills, and be good for the environment.

BUT WAIT! Lowering your water heater temperature  to prevent scalding could actually increase the risk of life threatening pneumonia, and pose an unacceptable risk for individuals with MECP2 Duplication Syndrome or other conditions that weaken the immune system.

Dauphin County family hopes research project will help son

ABC27-TV in Harrisburg, PA, USA carried this story on the Albert family (text), MECP2 Duplication Syndrome, and Project 401 on 10 February 2012. Video can be found here. Here are a few quotes from the story by Kendra Nichols:

Who Benefits from Research on MECP2 Duplication Syndrome?

The apparent answer to this question would be that a thousand or two boys and about a hundred girls that have been currently diagnosed with MECP2 Duplication Syndrome are the beneficiaries of research on MECP2 Duplication Syndrome. Of course, we DO hope that this small group will benefit from the research, but there are lot more potential beneficiaries.

How many children and adults have MECP2 Duplication Syndrome?

6 February 2012 This is a question that is frequently asked, but it is not simple to answer. There seems to be a lot of misunderstanding, and many believe that there have only been about 100 confirmed cases diagnosed so far. In fact there are a lot more than that, and no one has a precise count. In earlier years, 2005 to 2007 or 2008. There were only a few labs that were testing for MECP2 Duplication and so it might have been possible to simply add up totals from these labs to get a number. Since then, however, the number of labs doing this testing has grown rapidly and the number of tests performed has sky rocketed. There can be no doubt that the total number of cases diagnosed worldwide is now more than 1,000 and may be as high as several thousand. This number is increasing every day.

Video Lecture from Genetics Researcher Jill Clayton-Smith

AT the recent Manchester meeting, Professor Jill Clayton-Smith gave an excellent review of MECP2 Duplication Syndrome that is available on video. It is include below in two parts. There is some background noise, but overall great resources.

UK MECP2 Duplication Syndrome Support Group

There is a brand new Facebook group for families of children or adults with MECP Syndrome in the United Kingdom. The UK MECP2 Duplication Syndrome Support Group was started to link the growing number of affected families in the UK.

Advanced Directives and Intellectual Disabilities: Part 2

Continued from  Part 1….

PART 2

Misuse of DNR/DNI and Advance Directives

As stated in Part 1, there are appropriate applications for the use of these orders and directives, but they can also lead to intentional abuses and dangerous or deadly misunderstandings. Here are a some real life examples:

In 2011, a report from the UK’s National Health Service Quality Care Commission found widespread use of DNR orders for patients who were elderly or disabled without the knowledge or consent of family members