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 there are serious contraindications, making sure that your child has up to date immunizations against influenza, pneumonia, and other common infections is probably wise. Pneumonia vaccines such as Pneumovax 23 and Prevnar 13 reduce the risk of pneumonia. Research evidence suggests that these work in individuals with MECP2 duplication but that the protection wears off more quickly than it does in most other people. This means that these need to given more frequently than the general guidelines. In some cases, individuals with MECP2 duplication are tested periodically for antibodies, and when the antibodies drop to a low level, the vaccines are readministered. In other cases, doctors may simply readminister the pneumonia vaccine every few years.
Nebulizers: Nebulizers appear to be useful to prevent as well as manage respiratory infections. Various medications are typically added to keep the airway open.
Manage Risks for Aspiration: Aspiration pneumonia, (pneumonia cause by something – usually food, fluid, or stomach contents) getting into the lungs is a particular risk. Often this is discussed and treated as a separate issue than bacterial or viral infections. For individuals with MECP2 Duplication they are not entirely separate. In many cases, what starts as aspiration pneumonia turns into a lung infection. So managing the risk for aspiration also reduces the risk for infection.
Assess Swallowing: Some but not all individuals with MECP2 Duplication Syndrome have serious problems with swallowing that allow food or fluid into the airway. As a rough generalization, our kids seem to fall into three categories: (1) For some, this is not a problem, or, more accurately, it is no more of a risk than it is for any other child. (2) For another group, they do have some additional risk for aspiration, but it can be managed by simple measures, such as proper portioning while feeding (sitting upright with good support and the head flexed slightly forward. Because of low muscle tone, sometimes caregivers tend to use “birdfeeding” with kids like ours. Birdfeeding refers to tipping the child’s head back while feeding. THIS IS A TERRIBLE PRACTICE . DO NOT LET ANYONE FEED YOUR CHILD THIS WAY. Caregivers may tend to do this because less food spills back out of the child’s mouth and so it is a lot less messy. The problem is that food and fluids tend to spill into the airway, so there is less mess in your kitchen and more mess in your child’s lungs.
If there is any reason to suspect that swallowing difficulties are present. The child should be assessed. Ideally, there should be two kinds of assessment. (1) Is a functional eacting and feeding assessment. This looks at how the individual eats and whether, changes in positioning, food presentation, can improve the process. Special equipment, such as cut-out cups or transparent cups, may be recommended. (2) A videofluorscopic swallow study allows therapists to actually see if there is penetration (swallowed material gets into the larynx) or aspiration (swallowed material gets past the larynx and into the lungs).
Managing reflux: Many individuals with MECP2 Duplication Syndrome have reflux and are at risk of their stomach contents getting into the airway. While a lot of attention gets paid to the risk of aspiration of food or fluids during swallowing, the risk of aspiration from reflux may be as great or greater for our kids and adults. In some cases, reflux problems can be managed well with medicines that reduce the volume of gastric contents and reduce the acidity.
Use of Antibiotics: At one extreme, some individuals with MECP2 Duplication Syndrome appear to have immune systems that offer a normal or almost normal level of protection. At the other end of the continuum, some are extremely vulnerable to infection. Many others are somewhere between the two extremes. Our son, for example, does get more respiratory infections than most other people and tends to be sicker, and sick longer than most other people. However, he does not seem to get as sick as many others.Depending where an individual is on this continuum of vulnerability there may be different approaches that doctors may use in prescribing antibiotics. For those with highest vulnerability ongoing use of antibiotics as a preventive measure may be appropriate. For those who have normal or nearly normal immune responses, antibiotics may be used sparingly just as they would be used for any other individual. For those some place between the two, antibiotics may be used aggressively but not on an ongoing basis. This may mean prescribing antibiotics at the first sign of a respiratory infection (even one that is probably viral) to prevent it form progressing into a serious bacterial infection.
Anesthetics Another example of more aggressive use of antibiotics is to prescribe a single large dose of antibiotics just before any procedure that involves general anesthesia. Our doctor adopted this after a few instances of our son getting pneumonia 48 hours after anesthesia, and it appears to have really helped.
Hospitalizations: When an individual is extremely ill or needs treatment that only hospitals can provide, hospitals are the best place to be. However, hospitals are also full of things that make people (especially those with weak immune systems sick). So, if your family member really needs to be there, make use of the hospital. If it isn’t essential, however, avoid the hospital. For example, we have been able to get IV fluids for our son at the doctors office and some other nursing procedures at home that have avoided several trips to the hospital.
Isolation? This is a difficult issue and I do not have a one-size-fits-all answer. Exposing individuals with a weakened immune system to someone with an infectious disease certainly seems like something to avoid. On the other hand, isolating them from all possible exposures may make them even more vulnerable and deprive them from social experiences. In general, we have chosen daily normal exposure in daycare, school, social activities, and we think this helped to strengthen our son’s resistance to infection. However, some individuals are so vulnerable that the risk becomes unacceptable.
Household Hazards: Some environmental conditions in our homes may contribute to risk. For example, some homes may have extremely dry air in the winter. This can dry out membranes and increase risk of respiratory infections. A humidifier may be helpful, but it is important that it is properly maintained and sanitized. If not infectious agents can grow in the humidifier and be spread into the home air along with the moisture. Hot water heaters can also grow very dangerous bacteria if they are set too low. Some years ago, a lot of people advocated for turning down hot water heaters to save energy and prevent scaldings. Unfortunately, this resulted in serious problems with bacteria growing in peoples hot water tanks. Most of us with typical immune systems are protected from exposure to infections like legionnaire disease, but those with weakened immune systems can be easily infected.