Category Archives: Treatments

Cannabidiol Update

strThis 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

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Aspiration Pneumonia: Dysphagia versus Gastro-Esophageal Reflux

lightbulbLet 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

Drooling: Pros & Cons of Treatment

CAUTION2Many children and adults with MECP2 duplication syndrome experience excessive drooling. Some are treated medically to reduce this problem. This post discusses some of the pros and cons of medical treatment for drooling. Ptyalism and sialorrhea are medical terms that are medical terms that are sometimes used as synonyms for drooling although their precise definitions may differ slightly.

What causes drooling? There are two major Continue reading

MeCP2 and the adult brain

mouseA recent study looks at the effects of the MeCP2 protein levels on  adult brains. Although this study looked at blocking MeCP2 [similar to Rett syndrome and the opposite of MECP2 duplication syndrome], the fact that it showed different kinds of responses depending on the developmental maturity of the lab mice, suggests that the most critical role of the MeCP2 protein may be in the function of the adult brain.

This finding is consistent with Continue reading

Checking Vitamin D

DI need to start this post with a disclaimer. This post suggests that it may be worth asking your child’s doctor about checking Vitamin D levels if your child has MECP2 Duplication Syndrome. If there are signs of deficiency, it suggests discussing supplementation with the doctor. It is not intended to recommend supplementing vitamin D unless a deficiency is identified or without your child’s doctor’s approval, and it is not recommending excessive doses of vitamin D. Having said that, here are the reasons that checking might be worthwhile. Continue reading

Parent Survey on the Use of Cannabidiol in Intractable Epilepsy

NEW3While there  has been a lot of popular discussion of treating seizures with Cannabidiol, there have been few published studies of the results in children with seizure disorders. A study published in December 2013 in the journal Epilepsy and Behavior provides some encouraging information. While the study only surveyed a small number of participants and depended on parent perceptions rather than objectively measured data, the results were positive. Continue reading

GERD, Reflux Medications, Osteoporosis & Calcium

CAUTION2Many 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

Canada’s Reworked Medical Marijuana Program

News icon1 October 2013 Today begins Canada’s revised medical marijuana program. The new program will make pharmaceutical grade cannabis available to individuals who have been approved for treatment. It replaces a previous program that allowed approved individuals to grow small quantities for personal use.

So far only one LICENSED PRODUCER shows up on Canada’s Official Medical Marijuana website. Continue reading

Cannabidiol Update

This 15 -minute video combines the original youtube video with some of Sanjay Gupta’s CNN report. It is very hopeful. While these video’s report on children with Dravet syndrome at least one family is now trying it with their child with MECP2 Duplicatio Syndrome and reporting encouraging results.

Amelia Rivera Receives Kidney Transplant

Amelia Rivera is home after receiving a kidney transplant. According to USA Today the surgery was done at Children’s Hospital of Philadelphia, where her family previously complained she had previously been denied being considered for a transplant because of her intellectual disability due to Wolf-Hirschorn syndrome. The surgery took place July 3, 2013. Continue reading