Let me start by admitting that this post is partially just a theory on my part. So, let me start out by separating what we know from what I thank might be the case. Here is what we know:
• Many individuals with MECP2 duplication suffer from frequent, prolonged, and often severe bouts of pneumonia.
• Many of these same individuals have dysphagia (swallowing difficulties) including increased risk of food or fluid particles entering the airway.
• In at least some cases, food and fluid entering the lungs causes or contributes to these bouts of pneumonia.
• Many individuals with MECP2 duplication experience gastroesophageal reflux.
• Gastroesophageal reflux can also cause or contribute to aspiration pneumonia.
Now, here is my theory: While the issue of dysphagia (swallowing problems) has been the focus of managing aspiration pneumonia in individuals with MECP2 duplication syndrome, gastroesophageal reflux may be responsible for as much or more of this problem. Continue reading
I need to start with two disclaimers on this post. (1) This is not intended as medical advice. (2) Every individual with MECP2 Duplication Syndrome is different. Taken together this means these considerations are intended to suggest topics that families may discuss with their health care providers in order to determine IF and HOW they may apply to their child.
Children and adults with MECP2 Duplication Syndrome are always at increased risk for respiratory infections, but lately it has been particularly troubling to hear how many have been experiencing severe illnesses. It is important for parents to understand that some of this is beyond our control, no matter what we do to try to prevent it. But here are some things that might help at least a little.
Immunizations: Unless Continue reading
This is a summary of the results of part 1 of the Skin Conditions Survey.This survey was based previous statements and concerns raised by family members. It is not intended as scientific research but may be helpful to researchers and clinicians in helping to identify areas to explore.
Surveys were completed for 47 individuals with MECP2 Duplication Syndrome from 10 different countries (2 of the 47 were from unidentified countries). Continue reading
This post is not intended as medical advice, but it may suggest a topic to discuss with your child’s or loved one’s doctor. Sepsis is a difficult topic and the content may be disturbing to some readers. It is potentially life-threatening and there are no guaranteed ways of preventing or treating it, but the more that families know about sepsis, the better they can protect their family members, particularly those with MECP2 Duplication Syndrome.
September 13, 2015 is World Sepsis Day, but protecting individuals with MECP2 Duplication Syndrome from sepsis is something we need to think about every day.
What is Sepsis?
Sepsis is a condition caused by the body’s inflammatory response to an infection. Continue reading
New research from China suggests that MECP2 duplication syndrome may result in reduced pain responses. This will not come as a surprise to parents, health care professionals, or others with considerable experience with children and adults with MECP2 duplication syndrome. Many individuals with MECP2 duplication appear quite stoical when experiencing things that would cause considerable pain to other people.
This study by Zhang and colleagues came out a couple of weeks ago. It is an important topic and a good study. Since it is published in an open access journal anyone with access to the internet can read the study. Nevertheless, it is important to interpret and read this study with caution. Continue reading
Bauer, M. et al. (2015). Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome, Journal of Clinical Immunology, DOI 10.1007/s10875-015-0129-5
Back in July 2012, a previous post on this blog discussed a German research project on pneumonia in MECP2 Duplication Syndrome ed by Michael Bauer. Some of your children may have participated in the study. Now, the results of this study have been published and they are quite interesting. Continue reading
Many of the individuals, especially infants and young children, with MECP2 Duplication Syndrome have problems with eating and drinking. These problems most frequently stem from low muscle tone and weak reflexes. One serious problem that can result from these issues is the aspiration of food particles of liquids into the lungs. Continue reading
I need to start this post with a disclaimer. This post suggests that it may be worth asking your child’s doctor about checking Vitamin D levels if your child has MECP2 Duplication Syndrome. If there are signs of deficiency, it suggests discussing supplementation with the doctor. It is not intended to recommend supplementing vitamin D unless a deficiency is identified or without your child’s doctor’s approval, and it is not recommending excessive doses of vitamin D. Having said that, here are the reasons that checking might be worthwhile. Continue reading
Today is American Thanksgiving, and a lot of parents of kids with MECP2 duplication syndrome or other conditions that make them medically fragile are thankful for the many excellent doctors that have helped their kids. Unfortunately, many parents have also told me about bad experiences that they have had with some physicians, and many others are struggling to find a good doctor for their child. So, this post is about some things to consider in finding the right doctor for a child or dependent adult who is medically fragile. Continue reading