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.
Many parents of children or adults with MECP2 Duplication Syndrome already are using home oximeters. For others, this may be something new.
Fingertip pulse oximeters are fairly inexpensive, easy to use, and can be a useful tool to determine how well oxygen is being carried in an individuals blood. We just bought one for $25 from Groupon. Oximetry readings can HELP caregivers make decisions Continue reading
This post is a follow up to:
Question 9 asked Has your child/family member with MECP2 Duplication Syndrome ever developed pneumonia ….While in the hospital for another reason? …. Continue reading
7 December 2009 – Just in case you haven’t seen it yet, I want to let everyone know about the new and improved MECP2 Duplication Syndrome Website and to congratulate everyone involved on a job well done. First, Pam Albert, deserves everyone’s thanks for her dedication to the cause of better lives for children with MECP2 Duplication Syndrome and their families that goes far beyond just the website. The original website was a great asset to our family because it started to link us with other families and I know many other families feel the same way. Like all parents of children with severe disabilities, Pam has had more than enough on her plate to keep her busy, and she deserves a great deal of credit for the vision, energy, and organization to go beyond her own family to reach to all of us. Continue reading