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.
December 2018 Update
This is PWSMom. I have not worked on this Wiki for many years now because my attention has been drawn elsewhere. I am updating this site at the urging of a new PWS Dad.
I believe that the histamine 3 receptor inverse agonist is a direct hit for PWS. This has not yet been proven. I believe, however, that all of the data that are currently available are consistent with this hypothesis.
Pitolisant is safe and fast-acting and appears to touch upon all aspects of PWS. It has been approved in the European Union for narcolepsy with or without cataplexy and should be approved in the US for the same indication in 2019 You can read about it and follow the science of pitolisant at www.chionfoundation.org.
I believe that my son is the first child with PWS to go on pitolisant. He has now been on it for years. It has been life-altering for him and for our family. He is now 14-years-old and a freshman in high school. He is in all college preparatory classes and mostly has A's. (He has an excellent and really hard history class that he finds challenging, but he is rising to the challenge and hopefully will get his grade up before the end of the semester.) He still loves theatre, although we have discouraged him from doing the school musical this year. We want to give him a little more time to master the transition from a little Montessori school to a very large urban public high school. He is a Boy Scout and goes on camping trips. This weekend he will be spending the night in a bat cave and exploring caves with the Scouts. He can run a 5 kilometer race in under 30 minutes. He walks the mile to and from high school by himself most days. (He does bum a ride from his sister whenever he can.) His BMI is between 20 and 21. He appears to be progressing through puberty normally and making his own testosterone. This past fall he went to his Homecoming Dance with a beautiful and kind and amusing young lady who also has PWS and who is also on pitolisant. The two kids had so much fun that the tried to stay to the end of the party and we had to make them leave because we were tired waiting at home for them. Before the dance, they went out to dinner at a fancy restaurant. They sat at a table by themselves while we sat at a table in a back room completely out of eye- and ear-shot. They ordered on their own, ate on their own, and shared dessert. It was quite a wonderful evening for all of us.
I am very, very optimistic for the future of my son and the children born after him with PWS.
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:
- Bond with your baby
- Move/stimulate your baby
- Get your baby on Growth Hormone
- Contact your state Early Intervention/Birth to Three Program
- Get Organized! Start a Care Notebook for your child
- Contact Foundation for Prader-Willi Research and your state PWS Chapter
- Feed the brain (most important during first 12 months)
- Log onto online PWS Discussion Boards for support
There are many supplements discussed on this site and elsewhere. It seems that not everything works for every child, so you need to experiment to see what works for your child. My suggestion would be to start as early as possible and to start gradually, adding just one thing at a time and seeing how that goes. So, maybe add one thing give it at least a week (if you are the impatient sort) or a month if you can tolerate going more slowly. This way you can get a sense of whether or not something is working and/or whether or not your baby responds poorly to something. Today, if I were to do my best guess, I would start with:
- omega 3 fatty acids from fish oil - 500 mg for a baby can up dose gradually as child ages
- Iron (be careful of dose because high levels can be toxic) - consider using Ferrochel -ferrous bisglycinate
- CoQ10 (squirt directly into mouth so it doesn't stick to the sides of the bottle)
- Vitamin B12 (shots are best)
- Carnitine fumarate (start at 1/4 capsule - may cause diaper rash if dosed to high)
- Creatine (low dose - maybe a 1/8 of a scoop)
- Vitamin D (test blood levels and aim for blood levels above 50)
- B multivitamin (like a B-100)
Also, if you are feeding your baby breast milk, please consider increasing the quality of your milk (and helping your own health) by taking fish oil (2 – 3 grams? a day) and eating lots of good protein and good fat. Try to minimize sugar and grain as much as possible. You can change the quality of your breast milk in the same way that the quality of cow’s milk can be changed by what the cow eats.
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.
- Human Growth Hormone
- Paradigm shift related to metabolism
- B12 shots
- Carnitine fumarate
- Leaky genes
- occupational therapy
- physical therapy
- Essential Fatty Acids
- Hip helpers may help muscle tone
- Dr. Ross Greene's views on aggressive behavior
- Sleep and PWS
- Whole-body vibration
- Sensory integration
Other health issues
- Health Care Guidelines from PWSAUSA
- Ketogenic Diet
- Intestinal blockage/constipation
- Bacteria in gut
- Social Issues
- Medical Research
- Nonverbal Learning Disorder
- Pet therapy
- Mild Phenotype
- Low Tone
- Artificial Sweeteners
- New Generation
- PWS stories, please add your story here
- Mailing lists
- PWS websites
- PWSMom, the site's creator
- Inspirational Words