Difference between revisions of "Main Page"

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(Added important thought from Oneida)
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This wiki was created by a [[User:PWSMom | PWS Mom]] and is particularly dedicated to the new generation of PWS children who are receiving the advantages of [[Overview | early interventions]].
 
This wiki was created by a [[User:PWSMom | PWS Mom]] and is particularly dedicated to the new generation of PWS children who are receiving the advantages of [[Overview | early interventions]].
 +
 +
== Important Thought ==
 +
 +
People with PWS clearly have metabolic problems. The problem is that most geneticists, once they've
 +
determined that a child does not have a previously identified inborn error of metabolism (IEM),
 +
just shrug their shoulders and say, "Hmmph, I guess that's just PWS,"
 +
without following up on the numerous clues in the urinary organic acid
 +
and acylcarnitine profiles that point to what is going on with
 +
metabolism in PWS. That's really too bad because, as is suggested by the
 +
results over the last year or so when children with PWS are supplemented
 +
with carnitine, CoQ10, B vitamins, creatine, iron and essential fatty
 +
acids, it may very well be that the metabolic aberrations in PWS are
 +
just as treatable as some of the other IEMs. That is, PWS needs to be
 +
conceptualized at least in part as its own inborn error of metabolism
 +
and investigated as such so that it can become as well-characterized as
 +
other IEMs in terms of describing the cascade of events it precipitates
 +
in various metabolic pathways that result in chronic low energy,
 +
hyperlipogenesis and constant gnawing hunger.
 +
 +
The PWS community needs a bright and intrepid geneticist or metabolic specialist
 +
who finally takes up the challenge of tracing out the various metabolic
 +
disturbances in PWS because it could very well lead to the development
 +
of a metabolic treatment protocol that significantly ameliorates a large
 +
chunk of what is going on in PWS. That would be a very big deal indeed
 +
for the tens of thousands of children with PWS and their families around
 +
the world who face a lifetime of difficult struggle because PWS
 +
continues to be seen primarily as the result of a central hypothalamic
 +
dysfunction even though the amino acid, urinary organic acids, and
 +
acylcarnitine profiles clearly show evidence of a primary metabolic
 +
disturbance.
 +
 +
Please read below for differences that you, as parents, can make for your children until scientists have closed this knowledge gap. Your child's future has not been written. Your child's future is very likely much brighter than you currently believe.
  
 
== New Diagnosis? - First Steps ==
 
== New Diagnosis? - First Steps ==

Revision as of 14:06, 20 February 2008

Contents

PWS Notes

PWS Notes is designed to provide useful background on Prader-Willi Syndrome (PWS) for parents and to organize medical information that may be helpful for future research directions.

This wiki was created by a PWS Mom and is particularly dedicated to the new generation of PWS children who are receiving the advantages of early interventions.

Important Thought

People with PWS clearly have metabolic problems. The problem is that most geneticists, once they've determined that a child does not have a previously identified inborn error of metabolism (IEM), just shrug their shoulders and say, "Hmmph, I guess that's just PWS," without following up on the numerous clues in the urinary organic acid and acylcarnitine profiles that point to what is going on with metabolism in PWS. That's really too bad because, as is suggested by the results over the last year or so when children with PWS are supplemented with carnitine, CoQ10, B vitamins, creatine, iron and essential fatty acids, it may very well be that the metabolic aberrations in PWS are just as treatable as some of the other IEMs. That is, PWS needs to be conceptualized at least in part as its own inborn error of metabolism and investigated as such so that it can become as well-characterized as other IEMs in terms of describing the cascade of events it precipitates in various metabolic pathways that result in chronic low energy, hyperlipogenesis and constant gnawing hunger.

The PWS community needs a bright and intrepid geneticist or metabolic specialist who finally takes up the challenge of tracing out the various metabolic disturbances in PWS because it could very well lead to the development of a metabolic treatment protocol that significantly ameliorates a large chunk of what is going on in PWS. That would be a very big deal indeed for the tens of thousands of children with PWS and their families around the world who face a lifetime of difficult struggle because PWS continues to be seen primarily as the result of a central hypothalamic dysfunction even though the amino acid, urinary organic acids, and acylcarnitine profiles clearly show evidence of a primary metabolic disturbance.

Please read below for differences that you, as parents, can make for your children until scientists have closed this knowledge gap. Your child's future has not been written. Your child's future is very likely much brighter than you currently believe.

New Diagnosis? - First Steps

I know the pain and depression that comes with hearing that your perfect baby has PWS. Everyone has a different way of making it through that pain. As you figure out your way, I have several steps that I believe are critical for the health of your baby. I welcome the addition to or modification of these steps by other parents:

  1. Bond with your baby
  2. Move/stimulate your baby
  3. Get your baby on Growth Hormone
  4. Contact your state Early Intervention/Birth to Three Program
  5. Get Organized! Start a Care Notebook for your child
  6. Contact Foundation for Prader-Willi Research and your state PWS Chapter
  7. Feed the brain (most important during first 12 months)
  8. Log onto online PWS Discussion Boards for support

What is a Wiki?

This site is a wiki designed to be edited by any interested member of the PWS community, including family, researchers, and others. If you see information that should be changed or added, please create an account (it's free and takes just seconds) and then click the Edit button at the top of any page. The best example of the power of wikis is the Wikipedia, the most comprehensive encyclopedia in history, which is assembled by regular people serving as writers and editors.

The PWS community has several excellent Mailing lists. However, these tend to both distract long-time participants by repeating the same info while not providing good information to new participants because of the lack of organization and poor searching. This wiki is designed as a complement to those mailing lists and other forums, such as the PWS websites. If you're writing an email about PWS that could be useful to others, please consider adding it to a page on this wiki to make the info more generally useful. Please be aware that while some mailing lists have restricted access, this wiki is open to anyone and so private information should not be shared.

Early interventions

Other health issues

PWS Community

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