Category Archives: health

Drop Seizure Video

This YouTube video looks a lot like what has been described as a drop in individuals with individuals with MECP2 Duplication Syndrome. The individual in this video does not have MECP2 Duplication Syndrome, but the video provides a good example of what some drops look like.

The text below is the original text accompanying the video on YouTube. Continue reading

Advertisements

Skin Condition Survey 1: Results

checkboxThis 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

Skin Conditions Survey

questionWe are currently conducting a survey on skin conditions observed in individuals with MECP2 duplication syndrome. Please fill out one survey for each individual with the syndrome. All responses will be treated as confidential information. Most respondents have completed the survey in less than 4 minutes. Thank you.

Results will be posted in approximately 10 days.

Sepsis, Septicemia, SIRS, and Septic Shock

This possepsist 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

MECP2 and the Immune System

mouseI usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading

MECP2 and Sleep Issues

sleepSome of the earliest research on MECP2 gene and protein focused on its role in the circadian cycle that regulates sleep and wakefulness . Now, researchers from Barcelona have taken that research a step further. They showed that the highest levels of MeCP2 protein occurred during the sleep phase and lowest during the awake phase. Continue reading

Swallowing & Aspiration 101

CAUTION2Many 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

Begging for research! Interferon Gamma, bone formation & MECP2 Duplication

lightbulbDo the pieces of the puzzle fit?

Here are some known facts:

1. MECP2 Duplication Syndrome results in deficient interferon gamma that produces poor resistance to certain kinds of infection.

2. Individuals with MECP2 Duplication Syndrome often develop osteoporosis.

3. Individuals with MECP2 Duplication Syndrome are at risk for bone fractures.

4. Interferon Gamma plays a significant role in the formation and maintenance of bones.

SO, it seems likely that the low levels of interferon gamma might be responsible for low bone density and frequent fractures in individuals with MECP2 Duplication Syndrome. Continue reading

Checking Vitamin D

DI 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

Choosing the right doctor(s) for your a medically fragile child or dependent adult

stethToday 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