This post is a follow up to:
Question 9 asked Has your child/family member with MECP2 Duplication Syndrome ever developed pneumonia ….While in the hospital for another reason? …. Continue reading
19 June 2012 Part 1 of this topic addressed the frequency of pneumonia or lung infection episodes among individuals with MECP2 Duplication Syndrome and Part2 addressed the severity of these episodes. Part 3 discusses treatments. Continue reading
19 June 2012 Part 1 of this report discussed the number of episodes of pneumonia and lung infections experienced by children and adults with MECP2 Duplication Syndrome. In this part, information is presented on the severity of these infections and the impact on the individual. Continue reading
18 June 2012 Thank you to all the families to took time to answer a few questions about pneumonia and their family members with MECP2 Duplication Syndrome. This is not a scientific survey and it is not based on a random sample, but rather on families that chose to respond. This could affect the results although the large number of responses in comparison to the relatively small number of known cases suggests that it has some value. In addition, the only demographic data collected was age. This survey does not differentiate between males and females or between individuals with duplications and individuals with triplications. Here are some preliminary results. Continue reading
18 June 2012 This poll is now closed. Results will be posted shortly. Please take a few minutes to help us collect data on pneumonia and lung infections. It is important that we collect information from on as many individuals with MECP2 Duplication Syndrome as possible. Please complete one survey for each member of your family who has MECP2 Duplication Syndrome, even if that family member has never had pneumonia. If you know other families who have MECP2 Duplication Syndrome, please let them know about this survey. Thank you.
Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows: Continue reading
A poll on body temperature regulation was taken was taken on this website for one week during April 2012. Primary caregivers responded in regard to Seventy-nine (79) individuals with MECP2 Duplication Syndrome. Ninety-one (91) responses were recorded since some multiple responses were possible if more than one finding was reported. Chart 1 below indicates the percentages of caregivers who reported Continue reading
This Poll is now closed. Results are posted here.
This poll is intended for families or primary caregivers of individuals with MECP2 Duplication Syndrome. Please only respond once for each individual. Please CHECK ALL ANSWERS THAT APPLY. More information is provided below the poll to explain the choices. Continue reading
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. Continue reading
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. Continue reading