We 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.
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
Some 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
Some very encouraging news. Researchers at at New York University’s Langone Medical Center have reported results from clinical trials of Epidiolex, a pharmaceutical preparartion of CBD Cannabidiol. The study was structured to determine if the medication was safe, not to measure effectiveness as a an anticonvulsant. Nevertheless, 80% of the participants in the study decreases in seizure activity and on average. The average result for participants was a 54% reduction in seizures after 12 weeks of treatment. Additional clinical trials are still in progress. 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
Do 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
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
Continued from Part 1….
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 Continue reading