Tag Archives: Infections

Some thoughts on preventing pneumonia

pneumonia1I 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

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Sepsis, Septicemia, SIRS, and Septic Shock

This possepsist is not intended as medical advice, but it may suggest a topic to discuss with your child’s or loved one’s doctor. Sepsis is a difficult topic and the content may be disturbing to some readers. It is potentially life-threatening and there are no guaranteed ways of preventing or treating it, but the more that families know about sepsis, the better they can protect their family members, particularly those with MECP2 Duplication Syndrome.

September 13, 2015 is World Sepsis Day, but protecting individuals with MECP2 Duplication Syndrome from sepsis is something we need to think about every day.

What is Sepsis?

Sepsis is a condition caused by the body’s inflammatory response to an infection. Continue reading

Susceptability to Influenza in MECP2 Duplication

mouseRespiratory infections are a major challenge for individuals with MECP2 Duplication Syndrome. They are a major source of illness and are frequently life threatening. Most of the focus on studying these infections has focused on bacterial pneumonia. A recent study, however, looked at the effects of influenza A, a virus, on MECP2 Duplication laboratory mice. Continue reading

MECP2 and the Immune System

mouseI usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading

New Research on the Immune System in MECP2 Duplication Syndrome

clinImmBauer, 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.  Continue reading

Begging for research! Interferon Gamma, bone formation & MECP2 Duplication

lightbulbDo the pieces of the puzzle fit?

Here are some known facts:

1. MECP2 Duplication Syndrome results in deficient interferon gamma that produces poor resistance to certain kinds of infection.

2. Individuals with MECP2 Duplication Syndrome often develop osteoporosis.

3. Individuals with MECP2 Duplication Syndrome are at risk for bone fractures.

4. Interferon Gamma plays a significant role in the formation and maintenance of bones.

SO, it seems likely that the low levels of interferon gamma might be responsible for low bone density and frequent fractures in individuals with MECP2 Duplication Syndrome. Continue reading

My Research Wish List

Dear Researchers,

I know that a lot of people are hoping for cure for MECP2 Duplication Syndrome and perhaps a “Cure” for Rett syndrome at the same time. I am not going to claim that I wouldn’t welcome this, it sounds really great, but I have to say that I think it also sounds pretty optimistic to think this will happen within my child’s lifetime or in lifetimes of any of the children or adults who currently have MECP2 Duplication Syndrome.

So, I want to say that I would be very happy to have some research help find some things that will just make living with MECP2 Duplication Syndrome a little easier, just in case the “cure” isn’t at hand. I will start my list with just two things that I think could be achievable”

1. The seizure disorder associated with MECP2 Continue reading

H1N1 + MECP2 = ?

4 November 2009 – About H1N1 and MECP2

Many parents of individuals with MECP2 Duplication naturally have been concerned about the H1N1 virus because most who have MECP2 Duplication have weak immune systems and are very vulnerable to respiratory infections. There isn’t much information available, but here are some bits of information. Of course, this is not intended as medical advice, and individuals and families are, of course, advised to get individual medical advise from their own doctors.

Vaccination

Our son, David, received the H1N1 vaccine eight days ago and the regular flu vaccine about two weeks earlier. He tolerated the vaccine well and so far he has not gotten sick, even though many people around him have been sick. Of course, we can’t tell if this is just luck or the vaccine has already kicked in. In any case, the vaccine did not harm him and it appears to have helped so far. He had the adjuvanted, dead-virus version of the vaccine. Live virus vaccines may not be a good choice for individuals individuals with MECP2 Duplication because their immune system may not be adequate, but that is a matter to discuss with your doctor.  It is important to remember that vaccines take time to work, and can take as much as three weeks before they provide good protection. However, even if they don’t provide complete immunity, they can help reduce the severity of the illness.

Surviving H1N1

Tess & Greg O’Connell from Australia shared this story about her son’s H1N1…

Our 7 year old son, Travis, had previously been admitted to hospital one week prior to having H1N1 with sepsis, a bowel obstruction and pneumonia. So his immune system had taken quite a beating. The signs and symptoms we observed were a high temperature that would not come down, even after taking panadol [for North Amrricans, this is the same as Tylenol]. He was shivering even though he was hot, his skin was pale and clammy to touch. A wet sounding cough and runny nose. He was extremely lethargic and had started to vomit.

We were very lucky when we presented to the hospital that one of the emergency doctors recognized us and immediately started Trav on the Tamiflu antibiotics, and IV fluids as he was dehydrated and would not take fluids orally. It took several days before we started to see any improvement in his health and he got a lot worse before there was an improvement.

We took Trav to hospital within the first 24 hours of him becoming unwell, and were told that in order for the Tamiflu to be effective it needs to be started within the first 48 hours of becoming unwell with H1N1. I am not sure how accurate this is, but we were also told that once you have had H1N1 you cannot have it again.

What has your experience been?

If you have had experience with H1N1 or flu vaccine in an individual with MECP2, please consider sharing it using the comments section below.

Medical Fragility & Pandemic Planning

This post may be disturbing to some readers, but the implications of the H1N1 pandemic for children and adults with MECP2 Duplication Syndrome, who are epileptic, or who are otherwise medically fragile. The current concern about the H1N1 pandemic is a difficult topic for families of children with MECP2 Duplication Syndrome or other disabilities associated with medical fragility.  Families who are already challenged  with significant health needs on a daily basis may have difficulty even thinking about the potential complications of a pandemic. Although this is a difficult topic, it is a topic that needs to be carefully considered. Although the H1N1 virus has not been associated with severe illness in most individuals, the Center for Communicable Disease’s September 4, 2009 edition of Morbidity & Mortality Weekly Review Report states that 67% of the children who died from H1N1 in the US so far are children with significant pre-existing health conditions (almost all of these were developmental disabilities).

Continue reading