FPWR Blog

Your Child Is So Much More Than a PWS Diagnosis

A special contribution by guest blogger Melissa Demand

Melissa shared her story via our Stories of Hope questionnaire.

How has your child exceeded your expectations?

We were lucky that in NICU and through our geneticist, we only heard about what he wouldn’t be able to do physically. They really had no idea what was going on. He was so small and weak. Every day we’d concentrate on how much he ate or doing his physical therapy exercises. We didn’t know what would happen when we left that hospital. We didn’t have a PWS diagnosis.

It wasn’t until Kemett was 3 months old that we found out he had PWS. We were relieved that this was what is was, compared to other diagnoses it could have been. Kemett is an amazing boy. He is only 3½, but he is so smart, loves to read, is funny, loving and kind. He goes to a typical preschool and is keeping up with his peers — sometimes is even faster than them. We are so proud of the person he is becoming.

Topics: Stories of Hope

Will Vagus Nerve Stimulation Effectively Treat Behavior in PWS?

Vagus nerve stimulation (VNS) offers the possibility of a unique, non-pharmacotherapy for treating behavior in PWS, Prader-Willi syndrome. A small pilot study involving three patients with PWS has shown promising results, and next steps are already underway to further investigate this possible treatment.

Topics: Research

Your Child Can and Will Have Successes You Can Barely Imagine


A special contribution by guest blogger Dan Yashinsky

Dan shared his story via our Stories of Hope questionnaire.

Topics: Stories of Hope

PWS Clinical Trials Alert: January – March 2017

For more information on the opportunities below, as well as others, please visit our PWS Clinical Trials Opportunities page or clinicaltrials.gov (and search for "prader-willi"). We encourage members of the PWS community to seek out information that will help them decide whether participation is right for them. Please contact the study coordinators directly for important details about each study and to answer any questions you may have. Some trials may have funds available to support travel to study sites.

In addition to new studies, there may be changed criteria for older studies, so please read through carefully, check out the clinical trials webpage, and see how you might be able to contribute.

Topics: Research

What I Wish They Had Told Me About PWS

A special contribution by guest blogger Amber Rector

The day I found out I was pregnant, I imagined myself carrying to term, pushing out a healthy baby and going home the standard two to three days later. I would arrive home with my new bundle of joy, and we would adjust to life as a family of three. My complaints would focus on sleep deprivation and diaper blow-outs.

None of that happened.

Topics: Stories of Hope

Cell Culture Model Used to Study How PWS Genes Regulate Hormones


Hormones are little messengers that circulate in the body, carrying important information from one location to the next, and triggering the appropriate response to that information. Numerous hormone levels are altered in PWS. These include hormones that regulate feelings of hunger and fullness, hormones that impact development, growth, and puberty, and hormones that control metabolism. For example, growth hormone deficiency is well known to the PWS community andgrowth hormone treatment has shown to be an effective therapy, improving several clinical outcomes including body composition, height, muscle function, bone density, metabolism, development, and cognition.

Topics: Research

Don't Worry About the Small Stuff and Be Patient


A special contribution by guest blogger Teri Douglas

Teri shared her story via our Stories of Hope questionnaire.

Topics: Stories of Hope

How to Address the Challenges of Developing PWS Therapies

Prader-Willi syndrome (PWS) is a complex disorder, and, to date, supportive care and growth hormone therapy are the only treatments available. The rarity of PWS, the fragmentation of experts and stakeholders involved at each stage of therapeutic development, and limited funding add layers of complexity in the development of safe and efficacious PWS therapies.

Therapeutic development is a risky process that often requires more than 10 years and billions of dollars to complete. Unfortunately, 90 percent of drugs fail due to a lack of effect in patients.

The research plan for PWS needs to be comprehensive and proactive and include the right programs and tools to overcome these challenges and fill existing gaps. FPWR’s grant program and other research initiatives developed over the last decade have greatly advanced our basic understanding of both the genetic and molecular mechanisms of PWS, opening avenues for therapeutic development.

FPWR’s 5-year research plan for PWS comes at a crucial moment to accelerate the development of therapies by acting at each stage of the therapeutic development pathway.

Topics: News, Research

There is Goodness and Hope Up Ahead


A special contribution by guest blogger Anna Beasley

Anna shared her story via our Stories of Hope questionnaire.

How has your child exceeded your expectations?

In so many different ways, she just keeps fighting. We weren't given a lot of hope at first, but to look at all she has done and is doing. It's amazing!!

Who has helped you in your PWS journey?

My husband, her sisters, friends and the whole family, really. We have been blessed to have such great support! We were also able to find an amazing group of doctors and medical staff that have provided us with so much more hope.

Topics: Stories of Hope

Temperature May Impact Gene Expression in Mice During PWS Research

There are several mouse models used in PWS research, each missing some part of the DNA that is absent in PWS. Two of the most commonly used mouse models are the Snord116 mouse and the Magel2 mouse. Each of these has a deletion of the respective PWS-related gene.

These "deletion" mouse models are some of the best available tools for research, and they have provided a tremendous amount of valuable information to help us better understand PWS. However, to date, these mouse models have not mimicked all of the symptoms of PWS. For example, one model may have intense food-seeking behavior and overeat, but not develop obesity. Another model may be obese and have poor muscle function but not display the drive for food.

Topics: Research

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