As more families affected by MECP2 duplication are discovering that sometimes the wrong tests have been ordered leading to incorrect information being given, this simple metaphor may be useful for understanding the difference between two MECP2-related conditions and how testing applies to them.
Imagine that you are helping out at major international championship card game. Continue reading
I hate to be writing this in 2017, but there still seems to be a lot of confusion between Rett Syndrome and MECP2 duplication syndrome. So let me start simply by saying, THESE ARE NOT THE SAME. They are very different and in some ways they are completely opposite of each other.
Nevertheless, a lot of people including a significant number of doctors, healthcare professionals, and researchers seem to be confusing these two conditions. I am not pointing out these groups just to pick on them; I feel like I have to point this out because patients and their families are relying on these people to provide appropriate care and advice. If they confuse these conditions, real harm can result. Continue reading
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
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
Several new studies provide encouraging results about the use of cannabidiol (CBD) oil to treat seizure disorders that are not controlled by other medications. Research also, however, points toward important cautions.
Already in 2016,at least nine studies have been published on CBD and seizures. Two 2016 studies, one from Israel (Tzadok et al.,, 2016) and one the United States (Devinsky et al., 2016) are generally reporting particularly encouraging results. This is not to say the others are negative, just less relevant. The two discussed here are important because they include some results 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 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
Respiratory infections are a major challenge for individuals with MECP2 Duplication Syndrome. They are a major source of illness and are frequently life threatening. Most of the focus on studying these infections has focused on bacterial pneumonia. A recent study, however, looked at the effects of influenza A, a virus, on MECP2 Duplication laboratory mice. 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