Tag Archives: health care

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

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

stethToday 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. 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).

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