Category Archives: Helpful hints

GERD, Reflux Medications, Osteoporosis & Calcium

CAUTION2Many 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. Continue reading

MECP2 Duplication Syndrome and Social Security Disability

lightbulbFamilies 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.

 

Home Oximeters

OximeterMany 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 Continue reading

Results of Pneumonia and Lung Infection Poll: Part 4 Hospital-Acquired Infections and Discussion

This post is a follow up to:

Question 9 asked Has your child/family member with MECP2 Duplication Syndrome ever developed pneumonia ….While in the hospital for another reason?  ….  Continue reading

New Improved Website

7 December 2009 – Just in case you haven’t seen it yet, I want to let everyone know about the new and improved MECP2 Duplication Syndrome Website and to congratulate everyone involved  on a job well done. First, Pam Albert, deserves everyone’s thanks for her dedication to the cause of better lives for children with MECP2 Duplication Syndrome and their families that goes far beyond just the website. The original website was a great asset to our family because it started to link us with other families and I know many other families feel the same way. Like all parents of children with severe disabilities, Pam has had more than enough on her plate to keep her busy, and she deserves a great deal of credit for the vision, energy, and organization to go beyond her own family to reach to all of us. 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.

Maintaining Walking: Speculations

I need to start this post with two disclaimers:

  1. Although we are delighted that our son can still walk independently at age 19 in spite of MECP2 Duplication syndrome, we can’t take credit for this. Like most parents, we do the best we can for our son, but we know that much of this is out of our hands. We can’t take credit for his successes, and we try not to blame ourselves when things don’t go so well.
  2. My thoughts that I am sharing below are only speculations, based on my own limited knowledge and experience. Families and professionals working with children or adults with MECP2 duplication syndrome are welcome to consider them as hypotheses, but they should not  be taken as advice or proven therapeutic approaches. Continue reading

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