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
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.
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
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
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
Many individuals with MECP2 Duplication syndrome have gastric reflux. As a result, many are receiving GERD (Gastroesophageal Reflux Disease) medications such as antacids, for example, Mylanta or Tums; H2 blockers, for example, ranitidine (Zantac), cimetidine (Tagamet) or famotidine (Pepcid); or proton-pump inhibitors, for example, lansoprazole (Prevacid), omeprazole (Prilosec), or esomeprazole (Nexium). It is important to consider what these drugs actually do. There primary purpose is not to actually reduce reflux, but they do reduce the the acidity of the stomach. Continue reading
Families of individuals with MECP2 Duplications Syndrome in the USA should be aware that MECP2 Duplication Syndrome is one of that conditions that qualifies individuals for the Social Security Administration’s Compassionate Allowances program. Applying under this program may simplify and a shorten the application process.
SSA’s information on MECP2 Duplication Syndrome can be found at this link.More information on the Compassionate Allowances Program can be found here.