The Annual Membership Meeting for 2013 will be held by telephone on Sunday, December 8, 2013, at 8:00p.m., Eastern Standard Time. To join the call, please dial 1-213-493-0800. The Participant Access Code is 1076930#.
Receive updates on what Your Association has been doing during 2013, and where we’re headed in 2014. Our newly-appointed Executive Director, Ken Smith, will be present for the meeting. It will last approximately one hour.
PWSA (USA) Board Chair
A new resource from Prader-Willi Syndrome Association (USA) for families who have just received a diagnosis and have a baby in the NICU
Click Here to See This Resource
We are very pleased to share with you this wonderful publication that will be a tremendous resource for our new families. As you will read, it is thanks to the collaborative efforts of some wonderful families of a child with PWS who have a medical background, and many of our PWSA (USA) professional advisors. A special thanks goes to Colette and Eric Joncas who had the vision for this publication and were the main writers. It is wonderful that we have such talented parents were willing to give of their time and talents!
In the very near future our new website will be unveiled at which time this will be included, but meanwhile we want to share it with all of you, and we will send it to every new family who calls our office that has just had a child diagnosed with Prader-Willi syndrome. We have many wonderful resources for the new parent, but this will enable us to start them with just the information they need at that time.
Janalee Heinemann, MSW
Director of Research & Medical Affairs
Vice President, IPWSO
Posted in PWSA (USA), Research, Resources, Support, Uncategorized
Tagged Babies with PWS, NICU, Parents PWS, Prader-Willi, prader-willi resource, Prader-Willi Syndrome, Prader-Willi Syndrome Association, PWS, PWS Best Practices Guidelines, PWSA, Resource PWS
Dr. Merlin Butler, chairperson of our PWSA (USA) Scientific Advisory Board, is working with us to create a PWS growth chart for ages 3 – 18. We obtained a grant from Pfizer to create this growth chart and reproduce our PWS growth hormone booklet. Under the grant, both will be distributed to all pediatric endocrinologists around the nation. Dr. Butler helped create the infant growth chart that is in our PWSA (USA) growth hormone booklet and was published in the Pediatrics journal.
Criteria for the information needed:
- NOT on growth hormone treatment, or measurements taken prior to growth hormone treatment started.
- NOT enrolled in the rare disease consortium — sites at Florida, Vanderbilt, Kansas or Irvine, California (He has the data on these enrolled individuals.)
- CONFIRMED to have Prader-Willi syndrome by genetic testing.
- Height, weight, and/or head circumference data (single measurements or multiple measurements would be helpful
If you think you might have records that might at all be helpful, please contact Dr. Butler at email@example.com
This important project will be helpful to endocrinologists and pediatricians around the nation for years to come. It is wonderful to know that we have so many families willing to help advance medical care and research. Thank you!
PWSA (USA) Director of Research & Medical Affairs
Janalee Heinemann [PWSA(USA)], Jennifer Miller, MD [University of Florida], Theresa Strong, PhD [FPWR]
The Internet has proven a valuable place to learn about PWS, share experiences, and find out what other parents are doing to manage their child’s health. However, applying information gathered over the Internet to you child’s medical care can end tragically if the proper precautions aren’t taken. Here are some suggestions:
- Know Your Sources: When considering advice about medicines, supplements, or diets, consider the qualifications of the person or website providing the information. For individuals, what is their education, training and/or experience? For those giving medical advice, are they licensed, active in their field and well respected by colleagues? For organizations, where are they drawing the information from and are there any conflicts of interest (for example, could they benefit from the sale of a related product)?
The Genetic Alliance has a “Trust It or Trash It” tool that’s a good resource to help you weigh the quality of Internet materials http://www.trustortrash.org/#. Some examples:
- Think about TRUSTING IT if: The medical information is based on research of many people.
- Think about TRASHING IT if: The information is based only on someone’s opinion or individual experience.
- Look for Clinical Trials: Medical interventions (e.g., medicine, supplements, diet) might seem logical on paper and may be reported as beneficial by one or a few individuals, but until well designed clinical trials are performed, the safety and effectiveness of any intervention is unclear. Unexpected safety issues may arise, or it may turn out that anecdotal findings don’t hold up when evaluated in a rigorous clinical trial. Ideally, decisions will be guided by the results of clinical studies published in peer-reviewed medical journals.
Information about clinical studies can be found at http://clinicaltrials.gov/ or in the medical literature http://www.ncbi.nlm.nih.gov/pubmed/
- Inform Your Doctor: To properly care for your child, it’s critical that your doctor have a clear overall picture of all aspects of your child’s health. Thus, he/she needs to be fully informed of medications, supplements and dietary interventions you are doing or would like to consider. Any changes should be discussed ahead of time, so you can fully understand the risks and benefits in the context of your child’s health. If you are uncertain or don’t agree with your doctor’s recommendation or plan, seek a second opinion from a qualified medical professional.
- Take Care with Supplements: Keep in mind that the Food and Drug Administration (FDA) does not regulate supplements in the same way as it does drugs. FDA approved drugs undergo a rigorous review process to demonstrate safety and efficacy. In contrast, there are no requirements for manufacturers of supplements to demonstrate either safety or efficacy prior to marketing. Some supplements can be toxic if given when not necessary or in too high of doses. In addition, while FDA approved drugs undergo strict quality control to ensure lot-to-lot consistency, there is no formal oversight process to test the composition of supplements and ensure that it matches the label. Independent testing sites, such as ConsumerLab.com, or the NIH Office of Dietary Supplements (http://ods.od.nih.gov/) provide unbiased information about supplements.
- Recommended Websites:
- General Medical Information: WebMD, MedScape, MayoClinic, NIH MedlinePlus Medical Encyclopedia and University-based websites are usually good sources for general medical information.
- Prescription Drugs: The US National Library of Medicine Drug Information Portal http://druginfo.nlm.nih.gov/drugportal/drugportal.jsp
Follow-up to Dr. Rob Nicholls webinar
Dr. Nicholls did a wonderful job on describing the genetics of PWS and his involvement with some of the major breakthroughs in this area. We are very fortunate to have him on our PWSA (USA) Scientific Advisory Board. For more information on Dr. Nicholls webinar and his ride for research you can visit his website www.robsrideforresearch.com . I would just like to follow up on a couple of the questions asked during the webinar.
Janalee Heinemann – PWSA (USA) Director of Research & Medical Affairs
- Q – Amy: Many people ask “Why isn’t there a medicine for them to stop eating?” Many pharmaceutical companies have developed several products to improve appetite control, is this an area of research that is also being explored with PWS
A – The good news is that this is an area where there is currently more interest in using PWS for research than ever before! Several pharmaceutical companies wisely see PWS as the “window of opportunity” for finding breakthroughs in the area of appetite and obesity — and as we all know, there is a worldwide interest in coming up with answers to this complex and expanding problem. There are so many companies either looking at the potential of using PWS, or are in the early stages of doing a drug study on PWS, that we’ve established a collaborative PWS Therapeutic Development Team to track, encourage, and assist the progress of drug development for PWS. This team consists of those of us with a special interest and expertise from PWSA (USA), FPWR, and Pennington. An example of some of the pharmaceutical agents already in the planning stages are: a belornib, belviq, qsymia, and oxytocin. There are several others that we are tracking and working with companies to encourage further development. I would forewarn parents though that there many products touting appetite and weight control that are not effective for PWS. We will keep you informed of the progress of the research studies that appear the most promising.
- Q — There were several questions during the webinar on growth hormone that would take too much space to answer here, but it reminds me that I hope you are all getting our newsletter, The Gathered View. Over the last several years, we have had many articles on growth hormone in the newsletter. A small example is that in the most recent newsletter, I wrote a report from our international conference in Cambridge. The following are excerpts from the scientific portion of that conference that dealt specifically with growth hormone.
- An eight year study on growth hormone treatment (GHT) demonstrated that GHT is a potent force for counteracting the clinical course of obesity in children with PWS. (Nienke Bakker, The Netherlands)
- The conclusion of an Italian study further confirms that long-term growth hormone treatment in adults with PWS significantly improves body composition, muscle size and quality, and increases muscle strength and exercise tolerance. (Graziano Grugni, Italy)
- In a Scandinavian study looking at growth hormone treatment (GHT) in adults with PWS to see if there was an increased risk of sleep apnea due to GHT, they compared those treated with GHT or a placebo for 12 months. They did a baseline and a follow-up sleep study. It was found that GHT in adults with PWS is not associated with an increased risk of sleep apnea.(S. Farholt, Sweden)
If you do not get our PWSA (USA) newsletter, to assure that you are kept updated on the latest information regarding Prader-Willi syndrome, please click here to sign up for membership or contact our Communications Specialist, Ben Karp at firstname.lastname@example.org . Signing up as a member, you will also have access to all the past newsletters that have a wealth of information. Also, remember that for specific medical questions or problems, you can contact me, and for non- medically related issues, you can contact our other two support counselors, Kate Beaver or Evan Farrar. Just call 800-926-4797.
Dear Friends and Families,
If you attended Tuesday nights webinar on “Research For Prader-Willi Syndrome and Rob Nicholls Ride For Research”, thank you so much for attending and participating in a great Questions and Answers session. The participation we received from friends and families is what made this webinar so great.
For those of you who missed the webinar click here for a full recording of Research For Prader-Willi Syndrome and Rob Nicholls Ride For Research . We hope you will find it helpful and informative and consider donating to my Ride For Research across the United States to make our future research endeavors possible.
In this blog, we are sharing some important follow up information:
Thank you again and remember when we work together anything is possible!
Dear PWSA (USA) Friends and Families,
If you attended last weeks Webinar on “Getting Ready For School” Presented by Michelle Holbrook, Heather Molzer and Kate Beaver, thank you so much for attending and participating in a great Questions and Answers session. The participation we receive from friends and families is what makes these Webinars so great.
For those of you missed the webinar click here for a full recording PWSA (USA) Getting Ready For School Webinar . We hope you will find it helpful and informative. In this blog, we are sharing some important follow up information:
Posted in Advocacy, Prader-Willi Syndrome Association (USA), Prader-Willi Syndrome Awareness, PWS Best Practice Guidelines, Support
Tagged Prader-Willi, Prader-Willi Support, Prader-Willi Syndrome, Prader-Willi Syndrome Association, PWS, PWS Resources, PWSA, PWSA (USA)
“Effective advocacy comes from research, planning and preparation. Successful advocates know that is important and what is not worth fighting about. When you finish this book, you will have acquired the knowledge and skills you need to be an effective advocate. You will avoid the mistakes that prevent many parents from successfully advocating for their children.” -Pam and Pete Wright, FETA
From Emotions to Advocacy
In the remaining weeks of summer, if you have a school aged child with PWS, consider finishing your summer by reading the book, From Emotions to Advocacy (FETA). Written by Pam and Pete Wright, the Founders of Wrights Law, FETA is an essential resource for parents seeking to work collaboratively and effectively with their child’s school. And, as its title suggests, FETA focuses on moving parents from emotions (i.e. fears about school, anger about what has happened, etc.) to effective advocacy (i.e. focusing on the child’s needs, problem solving, etc.) which is essential for the success and wellbeing of a student with PWS. FETA provides parents with an array of practical information including:
- How to organize your child’s school file
- Writing effective IEP goals
- Understanding test scores
- Preparing effective letters and documentation
- Strategies for preventing and resolving school conflict
And more! As a Crisis Counselor at PWSA (USA) I keep my copy of FETA in arm’s reach at all times because it is one of my go to resources to understand special education advocacy. FETA is a single volume tool box you can return to again and again for guidance and advice. Make sure it is on your shelf this school year.
Order a copy today at http://www.wrightslaw.com/store/feta.html
Evan Farrar, PWSA (USA) Crisis Intervention and Family Support Counselor