New Research on the Immune System in MECP2 Duplication Syndrome

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. 

Swallowing & Aspiration 101

Many of the individuals, especially infants and young children, with MECP2 Duplication Syndrome have problems with eating and drinking. These problems most frequently stem from low muscle tone and weak reflexes. One serious problem that can result from these issues is the aspiration of food particles of liquids into the lungs.

Choosing the right doctor(s) for your a medically fragile child or dependent adult

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.

DNR Orders

Back in 2012, I posted a couple of  entries on the use of DNR orders. Advanced Directives and Intellectual Disabilities: Part 1 and Advanced Directives and Intellectual Disabilities: Part 2. My opinions haven’t changed… but since a number of new MECP2 Duplication Syndrome families have joined the group, I since those were posted and some have faced decisions about these orders, I want to remind people about these posts and add couple of additional comments now.

While the discussion generally revolves around DNR (Do Not Resuscitate) orders, these order may have other names, for example, DNAR (Do Not Attempt Resuscitation) and the same discussion typically applies to related orders such as DNI (Do Not Intubate) orders.

I want to be clear that I do believe that there are appropriate uses for these orders, usually on a short-term basis, when death is imminent and unavoidable from a predictable cause. Usually these are issue in hospitals and are only good for a specified period of time before they expire.

Many of the problems associated with DNR orders have to do with unintended consequences or differences in what families and various health care professionals believe the orders mean. For example, in a discussion of a DNR order, it might be stated that it means that once the individuals heart stops, there will not be an attempt to restart it. Whether this also means that respiratory assistance to help maintain breathing would also be discontinued is not discussed, but the order may be interpreted that way.

Out of Hospital DNRs present some special problems. Again they may be appropriate in some cases. For example, a terminal cancer patient who might prefer to die at home or in a hospice may want to have one. One problem with them, however, is that they do not expire (at least in most places… laws may differ in different jurisdictions) so they may be issued in the midst of a health crisis (whether for good or bad reasons). However, if the individual makes it through that crisis, the order will remain active unless it is specifically discontinued, and even if it is discontinued one must be careful that this is properly communicated to everyone. For example, some states do not require schools to abide by DNR orders but others require it. While the doctor may have discontinued a DNR it may still be in the child’s school record, and the school may believe that they cannot provide first aid to the child or pass it on to the EMTs if they have to call emergency services.

In my opinion, the most important thing for families is to make sure that you are on the same page with your child’s Doctors and health care providers. If you believe that your child’s life is worth saving and the doctor does not, this may not be the best Doctor for your child. Keeping your child alive does require competent health care providers, but when it comes down to the crunch, it also requires highly motivated health care professionals. Personally, I can tell you that I have seen the difference. I seen a pediatrician work on my child from 4 to 11.30 pm who thought my child’s life was worth the effort, and heard another pediatrician tell me that she was not going to rush to the hospital when she was called at 2 AM to save my child because that child is not going to live a long life anyway. So, I think all parents of medically fragile children need to talk to their Docs about this topic. If you are not comfortable with the result, you may want to shop for another doctor.

GERD, Reflux Medications, Osteoporosis & Calcium

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.

MECP2 Duplication Syndrome and Social Security Disability

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.

 

Cannabidiol: Can it help?

Recent interest in cannabidiol as an anticonvulsant has many families asking if cannabidiol might be valuable in treating seizures in MECP2 duplication syndrome. There is no easy answer to this question, but here is what we can say for sure:

Cannabidiol and Seizures: Research References

Here is a 40-year list of relevant articles from 2013 back to 1973. For some thoughts on the possible application to children and adults with MECP2 Duplication Syndrome, see Cannabidiol: Can it help?

Home Oximeters

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

MECP2 + Valproic Acid = ???????

This post starts with more than the usual disclaimer. (1) This is not intended as medical advice, and (2) this issue is based on early research that may or may not turn out to have clinical relevance. Having said that, the question remains:

Might anticonvulsant medications that contain valproic acid or closely related compounds be a bad choice for individuals with MECP2 Duplication Syndrome?