This week the New England Journal of Medicine published a double-blind study on the effectiveness of Cannabidiol (CBD) on seizures demonstrating that it was safe and effective for kids whose seizures could not be effectively controlled with typical anticonvulsants. The publication of the study set off a media storm with the results reported in hundreds of newspapers and on electronic media. The actual study focused on individuals with a Dravet syndrome diagnosis and so it is difficult to know how well it can be applied to individuals with MECP2 duplication. Nevertheless, there are some interesting findings and likely impacts with potential implications. Continue reading
Drop seizures are extremely common among individuals with MECP2 duplication syndrome. There is a sudden loss of muscle tone, and if the individual is not supported, he or she drops suddenly to floor, sometimes resulting in injury. Usually these are brief and it is over in a second, but sometimes they come in clusters.
While these drops are certainly one of the most, if not the absolute most, common seizures in MECP2 duplication syndrome, there are actually two kinds of “drops” that look pretty much the same, but are fundamentally very different. It is hard to tell them apart, and at least some individuals with MECP2 duplication syndrome, have both kinds. It may be helpful to figure out which kind is occurring, but it can be really hard to figure out, and it appears that at least some individuals experience both atonic and myoclonic drops.
So what’s the difference? ATONIC VS MYOCLONIC-ATONIC Continue reading
After my last post, I heard from quite a few people asking how they could find MECP2 Duplication Syndrome research articles and some wanted to more specifically know how to find articles from specific countries. PubMed is a great tool for finding this kind of information and it is available for free to everyone thanks to the the United States National Library of Medicine, National Institutes of Health. For those interested in finding research articles who are not already using PubMed or other similar tools, here is some basic information to help get you started.
A good place to start is this PubMed web Page. This provides a search window and and lots of helpful hints and tutorials that can help you use this database to find the information you are looking for.
If you want to become an expert or if you get stuck, you can watch some of the tutorials, but most people can find what they are looking for if they dive right in and do some searching. So here is an example.
At the top of the page the search window looks like this.
Here is some good news! More and more researchers from around the world are doing research that focuses on MECP2 duplication. Here is a quick snapshot of 30 recent studies published in 2016 or early 2017 that shows where the research is being conducted.
This shows that increasingly MECP2 duplication syndrome is being studied in countries around the world. While the United States and China account for half of these studies, 11 other countries are contributing to the research efforts.
Posted in Research
I’ll try to make this short. Here are eight facts:
- Although we do not have actual statistics, a significant number of children and adults with MECP2 Duplication Syndrome have been tested and found to have abnormally low levels of vitamin D.
- The reason or reasons for this are not well understood. Limited exposure to sunlight, some medications (e.g., anticonvulsants) can lower levels of Vitamin D), dietary issues may play a role.
- Low bone density (including osteopenia and osteoporosis) low-energy fractures, and skeletal deformities have been reported frequently among individuals with MECP2 duplication.
- Individuals with MECP2 duplication typically have increased frequency of respiratory infections.
- While at least some factors that contribute to this increased risk are well known (e.g., weak immune response, aspiration) are will known, this increased risk appears to be the result of multiple interacting factors.
- A large body of research suggests that Vitamin D deficiency plays a role in lowering resistance to respiratory infections.
- This research DOES NOT provide evidence that supplementing vitamin D beyond recommended levels is helpful.
- Too much Vitamin D is not helpful and can be toxic.
Most of these facts have been well known for many years.
CONCLUSION: Considering these facts, families may want to ask their child’s doctor about checking vitamin levels, and supplementing if needed. Continue reading
Christina was 36 years old when her sixth child was born. Her newborn daughter was different from the any of the others, and as time passed Christina began to realize that her new baby had a severe disability. Caring for this daughter would require Christina to change her life drastically, and those changes would dominate Christina’s life as long as her severely disabled daughter survived.
Not long after Darwin’s theory of evolution began to gain widespread acceptance, the notions like “survival of the fittest” and “the law of the jungle” popularized the idea that ruthless competition determined progress. This was based partly on a simplistic misunderstanding of evolution and partly on wishful thinking of powerful people who wanted to justify their own good fortune. Of course, it is true that competition within and among species is important, but much more recently science has recognized the roles of cooperation and caregiving as being equally if not more important to survival.
Of course, it seems unlikely that that Christina knew anything about evolutionary theory. She simply responded to her daughter’s needs. An older daughter pitched in and helped Christina at times. Nevertheless, most of the caregiving remained with the mother’s job. Christina didn’t let others who were not family members share caregiving responsibilities. She carried her daughter wherever she went, and did the best she could as long as her child survived.
When I read Christina’s story, I thought it sounded she sounded a lot like other parents of kids with severe disabilities that I have known. What was different was where Christina’s story was published; it was in the journal Primates. Christina is wild chimpanzee living in the jungle in Tanzania.This Wall Street Journal YouTube video provides a glimpse of Christina’s life with her daughter. Although this appears to be the first published study of caregiving for a severely disabled infant by chimpanzee, Christina’s caregiving behavior is not unique and it is not exclusive to primates. Caring for a disabled individual has been observed among a wide variety of animals. For example, his story of a pack of Orca’s provides an interesting example of “Killer whales” caring for a disabled pod member by bringing him food because his disability makes it impossible to get his own food.
There is also paleontological evidence of the earliest humans and prehumans caring for severely disabled children; some dating back 100,000 years or more. There are a number of examples of skeletal remains of children adolescents with evidence of significant disabilities have demonstrated that families (and most likely communities) cared for children and adolescents with severe disabilities during the paleolithic era. The skull and spines of these individuals reveal that they lived for many years with disabilities that would have been much too severe for them to survive without the help of caregivers.
In spite of all conflict, violence, and all of our human failings, humans have become the most successful species on this planet precisely because of our powerful will to care for each other. Families and communities caring for children and adults with severe disabilities exemplify this essential human quality.
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
Research published in December 2016 provides a bit more information about seizure disorders in MECP2 duplication syndrome, particularly as they compare to seizure disorders in Rett syndrome. In general, this is a great piece of research as it describes the course of seizure disorders in Rett syndrome over a period of years. It emerged from the earlier natural history study. Unfortunately from the the perspective of MECP2 duplication syndrome, this publication is a bit disappointing, not because of any weakness in the sturdy or the reporting, but merely because the number of participants with MECP2 duplication and the number of observations in the study was relatively small, which only permitted a very limited picture of this group. If there is a lesson for the MECP2 duplication syndrome study to be learned from this study, it may be the importance of participation in the current natural history study in order for researchers to be able to glean useful information.
Nevertheless this study did briefly report some general observations relevant to MECP2 duplication syndrome:
To all the affected families, to everyone who reads this blog, and to the rest of the world in general. Hope you have a great Christmas, Hanukah, Kwanza, Saturnalia, or whatever is meaningful to you. Some of you will be celebrating, some will be working, some will be struggling today, but I wish you all the best today, and for 2017.
2016 saw lots of progress toward research, but sadly saw too many families suffer the loss of cherished family members. Many more families had children diagnosed with MECP2 duplication syndrome this year. There were many new readers of this blog, and many new members of the MECP2 duplication syndrome Facebook Family Talk Group as well as other groups connecting families.
Best wishes to all the remarkable families that that are committed to caring for family members with severe and multiple disabilities.