Dr. Melissa Ramocki, assistant professor in pediatrics – neurology – Organismal Shift in the MECP2 Duplication Syndrome.The goal of this project is to examine how the health and susceptibility to infection of those with MECP2 duplication syndrome are affected by others. People with this disorder can suffer from regression in developmental abilities, recurrent respiratory infections and chronic gastrointestinal disorders. They are also more susceptible to atypical bacterial and viral infections. People with this disorder and their families will be monitored and tested over a period of time.

Congratulations to Dr. Ramocki!

This funding is for pilot projects that may lead to larger, longer-term research. The proposed project has the potential to produce results with direct application to better treatment for children and adults with MECP2 Duplication Syndrome. This is great news that offers some hope to families.

I have heard some concerns from parents of children with MECP2 Duplication Syndrome about the appropriateness of “DNR Orders.” I am writing this entry to provide some facts and my opinion about DNRs (Do Not Resuscitate Orders) , DNIs (Do Not Intubate Orders), Advanced Directives, Substituted Judgement, and Best Interests.

I am writing both from the perspective of the father of a 21-year-old medically fragile, nonverbal man with MECP2 Duplication Syndrome, and as someone who has spent a long career working with people with developmental disabilities and working in health ethics. I also want to say that there is no simple right or wrong path for families to follow. While I urge a great deal of caution in applying any of these to people with significant cognitive impairment and I have seen blatant misuse of advanced directives, I cannot say that they are never appropriate for people with cognitive impairments.

First, I want to mention the distinction between advanced directives and DNR or DNI orders. DO NOT RESUSCITATE orders and DO NOT INTUBATE orders are doctors orders, issued by physicians, not by patients or their families. ADVANCED DIRECTIVES, sometimes referred to as living wills, are issued by patients or sometimes by family members or guardians (although in most cases this is inappropriate as I will explain later). This distinction is important, because I have had many families tell me that a doctor asked them for a DNR. Of course, doctors can and should consult families, but it is important for families to know that ultimately doctors, not families are responsible for DNR and DNI orders.

Advanced Directives have one purpose. They were developed to allow a competent individual to make decisions about what kind of medical care they want or don’t want at some point in the future when they are no longer competent to make informed decisions. Therefore, the patient needs to be competent to make an informed decision when he or she issues it and unable to make an informed decision when it is applied. If the patient is not competent to make the decision at the time when an advanced directive might be issued, it cannot be ethically or legally issued. If the patient is competent when the advance directive is to be applied, it is irrelevant and invalid. The primary ethical principle behind advanced directives is autonomy, the right of each individual to make her or his own decision. Of course, another critically important principle is informed consent. Informed consent, normally requires that an individual be fully informed of the situation, risks, and benefits before making a decision. Being fully informed requires making the decision as close as possible to the present rather than making a decision in advance based upon a hypothetical situation. Advanced directives recognize that there are some situations in which genuine informed consent is impossible and provide an imperfect alternative, by allowing people to make their own decisions based on what they imagine they would want in a hypothetical situation.  It is imperfect because we don’t know all the circumstances that will be in place when the decision becomes relevant later on and because we don’t know how we will feel about it at the time. Here are a couple of examples:

We might be asked if we want CPR if our heart stops. We are told that only a small percentage of those receiving CPR survive, and many suffer painful injuries only to die a short time later after greater suffering. In reality, however, people’s hearts stop for different reasons and the risks and benefits of doing CPR vary greatly depending on the reason the heart stopped and other circumstances such as the immediacy of applying CPR. Unfortunately, we cannot have a separate advanced directive for every possible circumstance, so we may make an advanced directive imagining one scenario that is applied during a totally different circumstance.

Even if we understand the facts, we may not know how we will feel about them if they actually occur. To understand this, we can take a serious life challenge that does not eliminate communication.  Let’s say we asked a 1000 people who were not paralyzed if they would want to be kept alive or not after an accident, assuming that they would be permanently paralyzed afterwards. Many would say that they would rather be dead. However, if we ask the same question to people who actually have experienced paralysis after an accident, they generally very happy to be alive and rate their quality of life just as high as people who are not paralyzed rate theirs.

So, advanced directives are far from perfect….. But what are the alternatives? Substituted decsion-making and best interests provide some alternative. If one cannot make a decision for oneself under certain circumstances, someone else can be entrusted to make that decision in their best interests, such as a parent, guardian, or family member. Of course, this is not perfect either. While this has the advantage of allowing decisions to be made when more specific circumstances are known and closer to the time of relevance, they sacrifice the right of the individual to make his or her own decision. Of course, substitute decision makers can and should do their best to understand and respect the wishes of the individual. In addition, some substitute decision makers may not clearly have the best interest of the individual at heart, and even the well-motivated may have difficulty separating he patient’s best interest from the decison-maker’s,  family members, or others.

Modern ethics places a high value on autonomy, and, as a result, we generally see advanced directives as a better alternative. However, in the case of people who have severe cognitive impairments and have been determined unable to make their own decisions at any time, substituted decision-making  always applies and therefore advanced directives are never appropriate. Remember, our only reason for making decisions in advance was so the individual can make his or her own decision, so if the individual is not making his or her own decision anyway, there is no reason for making the decision in advance.

What about DRN or DNI orders? These may be appropriate under some circumstances when when a patient is clearly dying and the order is clearly written for a specific and generally short period of time. Having a DNR order that lingers in a patient’s medical record is dangerous and has frequently led to catastrophic results, often through abuse or miscommunication.

In general, many of the problems that I have seen related to DNR and DNI orders have to do with the application of these orders to deny medical care that is much less extreme than what was envisioned when the  order was discussed or written.  For example, paramedics responding to a child’s school in an emergency may ask school personnel whether he child has a DNR in place before administering any treatment. If the answer is YES, they may interpret this as a a reason for not applying basic lifesaving treatment. I have also known cases where ambulances refused to take patients because a DNR was in place. Here was the reasoning, if there is a DNR in place, the patient will not be admitted to a intensive or  critical care unit, if they will not be admitted to the ICU, the hospital will not admit the patient, if the hospital will not take the patient, where do we take him.  In one case, a patient with severe cognitive disabilities was not provided with antibiotics for pneumonia based on the DNR in the patient’s medical record.  Of course, these are not the way that these orders should be used, but these kinds of abuses are far from uncommon in the lives of people with developmental disabilities.

…. To be continued

Here’s an excerpt:

The concert hall at the Syndey Opera House holds 2,700 people. This blog was viewed about 8,500 times in 2011. If it were a concert at Sydney Opera House, it would take about 3 sold-out performances for that many people to see it.

Click here to see the complete report.

Here is Pam Albert’s Plea to Tim Tebow. She is trying to get this video to be viewed by as many people as possible to help get Tim Tebow on board to support her efforts to raise awareness of MECP2 Duplication Syndrome and raise funds for research. Pam has been a tireless fighter for her boys and for all the boys and girls affected by the syndrome and their families. Please consider supporting her efforts by sharing this video with others.

This video highlights the contribution of Penn State students’ work to the development of the Website.

Three approaches to the use of antibiotics have been taken. Each one may suitable for some individuals depending on the degree of vulnerability to infection.

The first approach is to swab secretions, culture them, and treat with an appropriate antibiotic only if a treatable bacterial infection is present. This method would be normal practice with individuals who do not have this syndrome, other immunocompromise, or other respiratory challenges that require more aggressive treatment. This may also be suitable for some individuals with MECP2 Duplication, but for others there can be two problems with this approach. First, respiratory infections may progress quickly and the delay waiting for culture results may lead to much more serious or even life-threatening illness. Second, in many cases bacterial infections appear to be secondary to viral infections. As a result, the first cultures are negative for bacteria, but the individual gets sicker and several days later bacterial infections are present.

The second approach is to use prophylactic antibiotics on a regular basis to prevent infections. This approach is used with some patients with other conditions such as post-transplant immunosuppression or cystic fibrosis. It has been used with some patients with MECP2 Duplication Syndrome and there appears to be some benefit to those with extreme vulnerability to infection.

The third approach takes a middle path. Antibiotics are not prescribed all the time, but they are prescribed whenever a respiratory infection begins regardless of X-ray or lab culture. Swabs are still taken for culture, and depending on the results, the patient may be switched to an antibiotic better suited to the specific bacteria cultured.

Each approach has advantages and disadvantages, and each works well for some individuals. Families can discuss the benefits of each of these approaches with their child’s physician.