Conference Call on Research

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.

Tight Pants, Heartburn, and Pneumonia

Here are a couple things to think about in preventing pneumonia in individuals with MECP2 duplication syndrome. They may seem strange, but they are relevant. Tight pants, wheelchair seatbelts, or anything else that fits snugly around the abdomen clearly present a risk. Medications used to treat acid reflux can help solve part of the problem but also increase the risk in an other way. So using these medications requires careful consideration of risks and benefits. Let’s consider them one at a time.

Developmental Disorders, Arrest & Reversal

Lately we have been hearing a lot about reversal experiments in mice. One might wonder, “if they can reverse Rett syndrome or Fragile X syndrome, or hopefully MECP2 duplication syndrome in mice, why the heck don’t they reverse it in my kid?” Sometimes it seems like mice must have better healthcare than people.

Gene Duplication and Ultrametabolizers

The unfortunate deaths of a number of children who were medicated with codeine is increasing interest in gene duplications. As reported in Pediatrics, These children died after receiving what would have been considered safe doses of codeine after minor surgery. Codeine is metabolized into morphine in the human body, and tests showed high  blood levels of morphine that would normally indicate that these children had received much higher doses.

MECP2 Duplication Syndrome Seizure Status Poll

This poll was for parents or primary caregivers of individuals with MECP2 Duplication Syndrome. Responses were collected from March 27 through April 5, 2012. The poll is now closed but results can be viewed, here.

Families Seek Funding for Research

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.

Pneumonia and MECP2 Duplication Syndrome: Part 1

About Pneumonia

Pneumonia almost certainly represents the greatest health threat to most individuals with MECP2 Duplication Syndrome. It is the cause of a great deal of illness and loss of life among individuals with MECP2 Duplication Syndrome. Although there are clearly differences among these individuals, as a group, they appear to experience pneumonia more frequently, have more severe symptoms, and respond to treatment more slowly. This blog entry is the first in a series written for families that describes pneumonia, discusses some of the factors that contribute to pneumonia in individuals with MECP2 duplication syndrome, and suggests some possible practical strategies for reducing the risk of respiratory infections and managing pneumonia.

May in Manchester

The UK MECP2 Duplication Syndrome Support Group is planning a conference for 11 May 2013 at the Hough End Conference Centre. More details will follow on this website. Mark your calendar! For more information, contact rhonaconnelly1@aol.com or mobile 07806470290.

MECP2 Family Conference Video

Here is the final cut of the Introduction from the May 2011 MECP2 Family Conference in Houston for anyone who hasn’t seen it. Thanks to Dr. Ramocki, Pam Albert, Dr. Zoghbi, The Blue Bird Circle Rett Center, Baylor College of Medicine, The JP Das Centre at the University of Alberta, and to everyone else who made this conference a great success.

MECP2, Fruit Flies, and Sleep

13 March 2012 The Genetics Society of America reported this week on some studies looking at the effects of human genes in Drosophila melanogaster, better known to most of us as fruit flies. Among these reports are a study of MECP2 levels in flies that have MECP2 genes added. MECP2 is not normally present in fruit flies. Sarah Certel, Ph.D., assistant professor of biological sciences at the University of Montana-Missoula found that the extra MECP2 resulted in fragmented sleep, a finding that should not be surprising to those familiar with MECP2 Duplication Syndrome. MECP2 has previously been shown to be critical in the regulation of circadian rhythms which regulate the sleep-wake cycle according to the presence of light.