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
Way back in December 2012, I posted Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1. I never got around to posting Part 2 because I was hoping that some more relevant information would come forward. It hasn’t. Nevertheless, I am posting Part 2 now, even if it doesn’t add a lot of new information to the discussion, because I think it is an important topic. It is important because low bone density is a problem for many individuals with MECP2 Duplication syndrome, this problem often remains hidden until it manifests in fractures or other serious problems, and it is basically irreversible.
This figure indicates some Continue reading
February 29, 2016 is International Rare Disease Day. While by definition individual rare disorders are uncommon, collectively more than 6,000 rare diseases affect a large segment of the population. For more information, see http://www.rarediseaseday.org/events/world
Posted in News
Tagged health, news
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 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
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