Joe’s Mission for Prader-Willi Syndrome

Miles 4 Siena 744b6e9d-ff37-4bf5-ad99-159d03eb79d9

On September 11, 2012, my baby cousin Siena was born. Shortly after, Siena was diagnosed with Prader Willi Syndrome (PWS), a rare genetic disorder that occurs in only 1 of 15,000 births. PWS typically causes low muscle tone, short stature, incomplete sexual development, developmental delays, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity.

Over the last year and a half, I have watched my cousin John and his wife Felicia devote their lives to raising Siena and making sure she lives as normal of a life as possible. Each day has been its own adventure, each one containing its own struggle, success story, and next step to helping Siena.

Currently, there is no cure for Prader Willi Syndrome. That’s where you and I can help. This May, I will be running the Cox Providence Marathon to raise money for Prader Willi Syndrome. I urge you to donate, because the struggle Siena and her parents have endured in only a year and a half’s time will only continue. Training for a marathon is tough, but Siena is the toughest person I know.Please click the green button to make your donation, and stay tuned for more updates. Tell your friends, and be sure to make #Miles4Siena go viral! -Joe DiMuccio

 Click Here To Donate To Joe’s Event Page

 Click Here To Create Your Own Page For The Person You Love

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Chapter Leaders Committee Announcement

PWSA (USA) has been listening to the feedback provided to the organization and we are excited to announce that throughout 2013, we have:

  • Participated in IEP meetings for students with PWS across the country to answer questions about PWS and recommend PWS appropriate educational and behavioral strategies.
  • Distributed hundreds of informational packets to care providers, medical, and school professionals.
  • Written hundreds of advocacy letters to support access to benefits for people with PWS.
  • Offered an understanding and supportive ear when parents need a place to talk.
  • Created the new e-letter School Times that in 4 months has a subscription list of over 400 people including both parents and school professionals.
  • Completed the Wyatt Special Education Advocacy Training – the first national PWSA (USA) Special Education Training.
  • Utilized Educational and Residential consultants to provide expert training to schools and residential programs across the country.
  • Assisted children and adults in crisis to receive treatment at the PWS program at the Children’s Institute in Pittsburgh.
  • Designed creative new resources such as the Older Child Package to assist families and caregivers of PWS.
  • Joined advocacy efforts to promote the support needs of people with PWS and their families.
  • Since 2008 PWSA (USA) has spent over $1,000,000 on Prader-Willi syndrome research sponsoring over 50 projects in a 10-year period.  PWSA (USA) keeps the momentum of research going by funding new and innovative research projects, maintaining the world’s largest PWS-specific medical database available to researchers and other professionals, sponsoring groundbreaking conferences like PWSA (USA)’s National Conference, and bringing together scientists of all disciplines for a Scientific Day conference.

We are excited to build on the success of 2013 and in the next few weeks you can expect to receive a call from a member of the Chapter Relations Committee. The purpose of this call is to discuss what PWSA (USA) has planned for 2014 and share our excitement about things to come. We look forward to talking to you soon!!

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What It Takes To Raise An Olympian

Our story begins with a little girl whose perseverance to survive astonished not only us, but the doctors as well. Having been born at 4 lbs 6 ounces and labeled as “failure to thrive” life has been a challenge.

Laney is the second of three daughters. She entered this world with strong determination and gusto. After years of testing, Laney was finally diagnosed with Prader Willi Syndrome. Prior to her diagnosis, we knew Laney was facing serious challenges, however, we were determined that Laney would have as normal a life as possible. With low muscle tone and developmental delays, we knew right away that it would take a special person to overcome the challenges that she faced.

Through extensive research, it became obvious that Colorado offered resources that would not only address our daughter’s challenges, but provide a better quality of life for our entire family. Therefore, in 2002 we moved our family to Evergreen, Colorado.

Laney soon showed an interest in skiing and we began to focus our attention on the National Sports Center for the Disabled (NSCD) in Winter Park, Colorado. This program gave our daughter the opportunity to not only excel at what she enjoys, but meet new friends, which can prove to be a challenge with people with disabilities. Goals are set and the athletes train accordingly. From the onset, our daughter had her sights set on an Olympic medal in alpine racing.


Winter Park Ski Resort has been instrumental in making our daughter’s dreams come true. As a family, we have become active in the NSCD, Ski Patrol and Competition Center. The NSCD gave us access to the Special Olympics and this is where Laney was able to achieve her dreams of becoming an Olympian. Through great coaching, tough training and race eliminations, Laney has been able to follow her goals of being a top athlete in her field. Every Olympic family has a unique story about their journey.

This is what it takes to raise our Olympian.

-Janet Reznik, mother of Laney (age 18 with PWS)

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On The Move 2014


Spring is just around the corner and most of you know what that means….. It is Prader-Willi Syndrome Awareness Season!  Spring is the main time that families and friends around the country spring into action for Prader-Willi Syndrome Association (USA). By hosting, participating and fundraising for “On The Move” we continue to make a positive difference in the lives of people and families living with PWS.

What is “On The Move”?

On The Move” s an awareness and fundraising campaign that:

  • Is designed to increase awareness of PWS and raise funds for PWSA (USA) and state chapters.
  • Grows support of the PWS community as a whole and Prader-Willi Syndrome Association (USA)’s numerous important family support services.
  • Includes an element of physical activity
  • Is undertaken by state chapters, affiliates, individuals and groups as a representative of the PWS community.

Why is “On The Move” important?

“On The Move” is very important in raising awareness of PWS and funding for PWSA (USA)’s key operations of support, research, education, awareness and advocacy.  Funding from “On The Move” is essential because it helps Prader-Willi Syndrome Association (USA) meet the multiple support needs of people living with PWS.  In the last year alone PWSA (USA) was able to do the following with the money raised from “On The Move” activities:

  • Participate in IEP meetings for students with PWS across the country (by phone or in person) to answer questions about PWS and recommend PWS appropriate educational and behavioral strategies.
  • Distribute hundreds of informational packets to care providers, medical, and school professionals.
  • Write hundreds of advocacy letters to support access to benefits for people with PWS.
  • Offer an understanding and supportive ear when parents need a place to talk.
  • Create the new e-letter School Times which in 4 months has a subscription list of over 400 people including both parents and school professionals.
  • Create and complete the Wyatt Special Education Advocacy Training – the first national PWSA (USA) Special Education Training.
  • Utilize Educational and Residential consultants to provide expert training to schools and residential programs across the country.
  • Assist children and adults in crisis to receive treatment at the PWS program at the Children’s Institute in Pittsburgh.
  • Design creative new resources such as the Older Child Package to assist families and caregivers of PWS.
  • Join advocacy efforts to promote the support needs of people with PWS and their families.
  • Spend over $1,000,000 on Prader-Willi syndrome research (in a 5 year period)
  • Sponsor over 50 research projects in the past 10 years.

Why have an “On The Move” Event?

Your involvement in OTM as an event organizer, fundraiser, and/or participant empowers you and educates others.  With the money you raise from your event we are able to continue and develop our support, research, education, advocacy and awareness capabilities.

One great thing about the On The Move is you get to choose where your funds go! If you want 100% to go to support that is great! If you want 100% to go to research perfect! If you want to split the funds between different services, no problem!

What can I do?

Plan An Event: Want to plan an event but don’t know where to start?   Through you can set up your event, ask participants for donations online through emails and social media, and registrations are automated through the process.

If you are having an OTM Event:

  1. Submit your PWSA OTM Event Agreement  to
  2. We will create a FirstGiving event at send you a log-in & password
  3. Log-in and add event information and pictures to customize your event page
  4. Send emails or post to your social network using the easy to use tools for registration and donations

Share Your Event: Already hosting an event? We would love to hear about it. Submit your event here and we will post it on our website, share it in our community blog and social media outlets .

Not hosting an event but still want to help out? Here are a few options:

Fundraise Online:

Want to raise awareness and money for Prader-Willi syndrome but you don’t have time for an event?

That’s fine! makes it easy to spread awareness and fundraise whether you are having an “On The Move “event or not.

If you want to set up your own fundraiser/awareness page online for FREE:

  1. Go to “PWSA On The Move 2014
  2. Click the “Fundraise” Button
  3. Set up your own fundraising page and start sharing with friends and family through the simple email and social media tools

Attend an  Events Across The Country  

March 29, 2014 – Running Of The Bears 5k – Vestal, NY

April 6, 2014 – Florida  On The Move – River Ranch, FL

May 3, 2014 – 1st Annual Fighter Jhett Classic – Indianapolis, IN

May 3, 2014 – PWANY Walk – Syracuse, NY

May 10, 2014 – 4th Annual On The Move – Oconomowoc, WI

May 17, 2014 – Walk N Roll – Middletown, CT

May 18, 2014 – On The Move Dinner -Queens, NY

May 31, 2014 – Hunter Lens 5th Annual PWSA Golf Event – Lakeville, MA

Visit our website to see all the events across the country

Advocate For On The Move: 

For more information on how you can advocate for “On The Move” call Ben Karp, Communications Specialist for PWSA (USA) at 941-312-0400 or email

Order Your “On The Move” Logo Items Today

The PWSA (USA) “On The Move” Logo Items are a unifying symbol of hope and awareness in our community.  Last year, hundreds of “On The Move” logo items were distributed nationwide and were worn by advocates just like you in support of PWS Awareness.  This year we have a new logo and new products that we are sure you will enjoy! To order today contact Pam Ferrara at 941-312-0400 or email

We look forward to celebrating this “On The Move”  Season with you and our entire PWS community!

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PWSA (USA) Collaboration with Pharmaceutical Companies

Janalee Heinemann, MSW

PWSA (USA) Director of Research & Medical Affairs 

Hopefully by now you have all read the exciting news either in the New York Times article or in the press release by the pharmaceutical company Zafgen about the exciting clinical trial results on the phase 2 study of Beloranib in patients with PWS. The drug effectively reduces body fat content while allowing patients with PWS to eat more food without gaining weight and hunger related behaviors are improved.

This is just one example of how we impact research on PWS besides direct funding to research. In 2012 I helped the president and CEO of Zafgen to coordinate a meeting during our Hyperphagia Conference in Baton Rouge at Pennington. The goal was to put together a collaborative team that could move a clinical trial forward. We had that meeting in November 2012. For those of you that don’t know much about research, to get approval from the FDA, work with the appropriate clinical and research sites, get IRB approval, recruit appropriate candidates for the research, deal with the complexity of a placebo-controlled, randomized double-blind study, and to calculate the results, is a HUGE project that often takes several years. To go from our 1st meeting in November 2012  and have the results publicized less than 14 months later is an incredible victory for Zafgen, the researchers (principal investigator was Dr. Jennifer Miller who is on our PWSA (USA) clinical advisory board), and for our families with PWS.

Just today I talked to another pharmaceutical company that wants to start clinical trial in a couple months on another drug that holds a lot of promise for impacting the hyperphagia. I have already worked with them over the last 2 years on getting FDA approval, finding out what sites might be viable for this research, and how we can promote recruiting candidates, etc. This is just a few of the exciting types of support we give to help move research forward.

We have put together a great collaborative PWS Therapeutic Development Team including myself, Rob Lutz, PWSA (USA) board member, Jim Kane, PWSA (USA) research advocacy chair, Theresa Strong, FPWR scientific chair, Dr. Steve Heymsfield, with Pennington Biomedical Research Center, and other members from FPWR and PWSA (USA).  We all want what’s best for our children with PWS and are committed to working together to improve the quality of their lives.

In this same spirit of collaboration, we would like to announce that FPWR is having a Webinar on what you need to know about PWS Clinical Trials by Theresa Strong and Dr. Jennifer Miller.  I think this webinar would be of benefit for many of our families, so please consider attending.

This is an exciting time for Prader-Willi syndrome research. Together we are moving mountains!

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Seeking Clues To Obesity In Rare Hunger Disorder

by Andrew Pollack

Lisa Tremblay still recalls in horror the time her daughter Kristin pulled a hot dog crawling with ants from the garbage at a cookout and prepared to swallow it.

Kristin has a rare genetic abnormality that gives her an incessant, uncontrollable hunger. Some people with the condition, called Prader-Willi syndrome, will eat until their stomach ruptures and they die. And, not surprisingly, many are obese.

“She’s eaten dog food. She’s eaten cat food,” said Ms. Tremblay, who lives in Nokomis, Fla. When Kristin, now 28, was a child, neighbors once called social welfare authorities, thinking Kristin was not being fed because she complained of being hungry so much.

Once an obscure and neglected disease, Prader-Willi is starting to attract more attention from scientists and pharmaceutical companies for a simple reason: It may shed some light on the much broader public health problems of overeating and obesity. Read full article

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Best Idea Grants for Hyperphagia in Prader-Willi Syndrome Announced

The Prader-Willi Syndrome Association (USA) and The Foundation for Prader-Willi Research (FPWR) announce support for three research grants aimed at advancing the understanding and treatment of hyperphagia in Prader-Willi syndrome (PWS).  Hyperphagia, or excessive hunger, is a defining feature of PWS, a rare genetic disorder. Individuals with PWS require constant supervision and highly restricted access to food or they will rapidly develop life-threatening obesity. Compounding the problem, a slower than normal metabolism means that people with PWS require far fewer calories than those in the general population.  Constant hunger is part of life for those with PWS.

Research projects were submitted in response to a request for “Best Idea Grant” proposals, following the second International Hyperphagia Meeting at the Pennington Biomedical Institute in Baton Rouge, Louisiana in late 2012.  This meeting brought together leading scientists in obesity, appetite and PWS research, to share findings and generate new ideas about hyperphagia.  Grant proposals submitted for consideration were reviewed by world experts in hyperphagia and PWS.  Funding to support the research is provided by One SMALL Step walks, an international fundraising effort in the PWS community.

Three projects have been selected for funding. Dr. Rudolf Leibel of Columbia University will use stem cells derived from individuals with PWS to learn how loss of a key PWS-region gene leads to hyperphagia.  Dr. James Houghland of Syracuse University will develop a drug to target ghrelin, a ‘hunger hormone’ that is abnormally high in persons with PWS.  Dr. Eric Hollander of Albert Einstein School of Medicine will determine if treatment with oxytocin curbs appetite and improves behavior in children with PWS.  Additional support for Dr. Hollander’s project is provided by Prader-Willi Angels.

“We’re thrilled to be collaborating with PWSA(USA) to support these exciting projects to improve the lives of those with PWS.  Currently, hyperphagia and the resulting life threatening obesity represent the major obstacle to healthier, more independent lives for those with PWS” said Theresa Strong, Chair of FPWR’s Scientific Advisory Board.  Ken Smith, Executive Director of PWSA(USA) agreed.  “These cutting edge research projects will help us better understand what drives hunger in PWS, and how we might reduce the burden of hunger in people with PWS.  We also believe that insights into hunger and satiety in PWS will provide a window into understanding the obesity epidemic in the general population.”

About the Prader-Willi Syndrome Association (USA) (

For over 35 years PWSA (USA) has taken the lead, internationally, in raising vital funds, promoting key advocacy and encouraging collaborative research in support of Prader-Willi syndrome and providing support and educational materials for families and caregivers. Hyperphagia and obesity are cardinal features of PWS and a focus of its research efforts.

About the Foundation for Prader-Willi Research (FPWR) (

Established in 2003, the mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research. FPWR is dedicated to fostering and supporting research that will advance the understanding and treatment of PWS, allowing individuals with PWS to lead more healthy and fulfilling lives.

About Prader-Willi Angels (

Founded in 2011 by Jeannine & Jerry Kowal after their daughter Caitlin was diagnosed with PWS, Prader-Willi Angels (PWA) seeks to raise funds to support research initiatives geared toward solving the challenges of PWS, with a particular focus on curing hyperphagia. PWA partners with fellow research-oriented organizations to help accomplish its goals.

About One SMALL Step

The One SMALL Step walks for Prader-Willi syndrome research are an international, PWS community-wide fundraising effort.  In 2013, One SMALL Step walks were held in more than 70 locations around the world, and raised more than $1.3 million to support PWS research.

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Season Greetings!

Season Greetings Everyone and A Happy New Year!

One of the most critical components of PWSA (USA) support is the medical coverage. Parents and professionals call daily with anything from a medical question to a serious medical crisis. Support and information is provided via phone, information is emailed and faxed, and consultation is provided by members of the PWSA  (USA ) Clinical Advisory Board when needed

-Janalee Heinemann, Director of Research & Medical Affairs-

The clock is ticking and we’re still $48,100 short of our goal to raise $100,000 by tomorrow night. A shortfall like this could impact our ability to provide critical medical coverage for children, adults and families with PWS in the coming months.

If you believe that every person with PWS deserves to reach their full potential…if you’re not willing to stand by while kids go undiagnosed…you can help right now.

Please give generously today.

Tomorrow is the last day to make your year end donation for 2013.  Please don’t let us start the New Year without your support. A child’s life depends on it.

Thank you,

-Ken Smith, Executive Director, Prader-Willi Syndrome Association (USA)

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Looking Ahead To The Holidays

By: Janalee Heinemann, Director of Research & Medical Affairs

The holidays are typically a food fest in our country – and can be a time of stress for our PWS families. With good planning, it is possible to make it a happy holiday for all.

If you will be with relatives, carefully plan ahead of time and communicate the importance of food control with all involved. Make sure all attending know the “rules of engagement” and agree to cooperate.

See that someone at all times is clearly in charge of your child with PWS. Clearly define when you are “changing guards”. As Dr Linda Gourash states, “When everyone is in charge – no one is in charge.”

If your child is old enough, rehearse the “rules” before the special day and come to a mutual agreement on what your child will be allowed to eat. You can barter, i.e. “Do you want a little extra turkey and dressing, or do you want a piece of pie as your special treat?”

It is okay to request that Grandma and other relatives tuck away tempting items during your visit and to discreetly check with you prior to offering your child a treat.

Make sure you know what everyone is bringing, so there are no surprises on what the choices will be.

Grandpa and Grandma, or aunt and uncle may want to bring a special gift toy to compensate for the food they have to deny your child.

Go over with the hostess or your family the plan to contain accessibility to food. This will help prevent your child from sitting near bowls of food, rolls, or condiments. Many people do not consider how many calories children can consume with the extras – sugar, butter, catsup, etc.

After eating when people are just visiting make sure food is put away or, if left out, someone is responsible for guarding it.
Your child must have the security of knowing you will be strong in your commitment to keep them protected from food – in spite of themselves. Giving in, even once, means several battles ahead. Consistency is the key.

Of course, each family must judge their own situation based on their child’s food drive and their own regulations on treats. Some families are raising their children to never have any sweets – no exceptions. Others (like ours) just go by calories and the weight of the child, trying to keep the diet less in quantity with more variation of food. Often, the most important thing is to prevent food sneaking or food demands. There is a large variance in the food drive of children with PWS. Some will ask or beg for more food, but make no significant attempts to sneak food. On the other hand, some will go to great extremes to get food, and are incredibly cleaver at doing so.


The holidays have an extra risk factor for our older children and adults with PWS. There have been individuals with PWS who have died of gastric rupture and necrosis. Some of these were over the holidays or special events and due to a food binging episode that led to necrosis (deadening of the tissue) of the stomach wall and a perforation (tear) in the stomach. In most of the deaths, the person with PWS was relatively slim, so there was no great concern about weight gain. Keep in mind that a person with PWS, who is slim still does not have total food control. When a child or adult with PWS has many opportunities for food ingestion, the lack of feeling full, the high pain threshold, and a weak vomiting reflex – then there is the potential of filling the stomach dangerously full. Because there are many food binging episodes of our children and adults with PWS, most not having such disastrous results, we think there are probably other factors that play into this life-threatening situation, which we are currently researching. One hypothesis is that due to prior food binges, and stomach muscle weakness, certain areas of the stomach wall become thinner putting this area at risk. Please see that the safety and security that your child deserves is provided. Click here for full story

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 Help Us Kick Off This Years Angel Drive!


If there were no educational materials about Prader-Willi syndrome available for schools, physicians, parents, supportive living staff, and relatives.


If there was no one to call during a medical emergency, for help with school issues, or for assistance with placement or insurance denials.

Many people can imagine, as this was our world 38 years agobefore the Prader-Willi Syndrome Association (USA).

This holiday season is a critical time for PWSA (USA).

Your financial contribution will ensure that in 2014, programs and services for those affected by Prader-Willi syndrome continue, grow, and are available to all of those in need.

The time is now. The need is real.

Be an Angel for PWSA (USA) by clicking here and making a donation to the holiday Angel Drive.

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