One Small Step for Lincoln: PWS Research Gives Me Hope

A special contribution by guest blogger Kristine Mosca

There was nothing more exciting than to hear that we were expecting our fourth child. I had delivered three beautiful children already and felt more than ready to welcome our fourth baby into the world. But when Lincoln was born a month early via C-section, the operating room was silent. We knew something wasn't quite right. We quickly discovered that not only was he unable to cry, he was very floppy, and had no suck reflexes either.  

Topics: Stories of Hope

Want to Make Friends? New Online Groups Build Social Skills in PWS

A special contribution by guest blogger Elizabeth Roof

Elizabeth Roof is a Senior Research Specialist at the Vanderbilt Kennedy Center and directs six research programs with children and adults with rare genetic disorders including Prader-Willi syndrome. Since 1995, she has personally evaluated more than 300 individuals with PWS. She has given a number of talks and presentations at international, national, and local conferences about current research practices and implications for treatment. She has helped write and produce three YouTube videos with FPWR and IPWSO on best practices in PWS, including her latest video on improving social functioning. Elizabeth with be joining us this year at FPWR's Annual Family Conference in Indianapolis, IN, August 25-27. Join us!

Many people believe that teens and adults with Prader-Willi syndrome don’t care much about making and keeping friends. We know, after seeing hundreds of people with PWS, that this just isn’t true for most. Many teens and young adults with PWs complain that they're lonely, they don’t have many opportunities to make friends, and it's hard to keep friends over time. A lack of social connection can make you lonely, anxious, and depressed. This is a very real struggle for many with PWS. They want to have friends, they want to do things out in the community, and they long for real connection with someone who accepts and understands them. We all do. Having friends and social opportunities mean less depression, isolation and psychiatric issues as people age.

Topics: News

PWS Clinical Trials Alert: April 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

LaSalle Gene Research Paves Way for PWS Sleep and Metabolism Therapies

Sleep disorders are common in Prader-Willi syndrome (PWS). These are associated with central and obstructive apnea, disrupted sleep, and excessive daytime sleepiness. But why exactly do individuals with PWS have abnormal sleep patterns?

Dr. Janine LaSalle has uncovered an exciting new link between the missing genes in the PWS region of chromosome 15, and genes that control our circadian rhythms (i.e., our daily sleep-wake cycle). This intriguing discovery opens the way for new therapies to regulate sleep and metabolism in PWS, which Dr. LaSalle is currently investigating with support from FPWR. I recently spoke with Dr. LaSalle about her background, the current research in her lab, and her outlook on PWS.

Topics: Research

Art Auction Combines One-of-a-Kind Art AND Support for PWS Research

4/17/2017 — Note: Bidding closed yesterday, but you can still see these beautiful pieces of art on Facebook!

Twenty unique paintings are available to the highest bidders in a unique art auction benefiting the Foundation for Prader-Willi Research (FPWR). Each piece of art, beautifully painted on a 12×12 canvas, was created specifically for this art show by individuals with Prader-Willi syndrome (PWS).

Topics: News

New Evidence Supports Benefits of Hippotherapy

A new study highlighted in Medical News Today further supports the benefits of hippotherapy with regards to behavioral tasks and cognitive development. Hippotherapy is the use of horseback riding as a therapeutic or rehabilitative treatment.

Topics: Research

Bearden Research Transforming Understanding of Mental Illness in PWS

Behavior and mental health issues are an important part of Prader-Willi syndrome (PWS). In particular, one of the most challenging aspects for families to face is the onset of psychosis (i.e., mental illness characterized by symptoms, such as delusions or hallucinations, that indicate an impaired contact with reality). Recognizing the early — or “prodromal” — signs of psychosis can be a very effective path to intervention and treatment.

While relatively new to the PWS community, Dr. Carrie Bearden has extensive experience studying the causes of psychosis in neurodevelopmental disorders, and has recently been funded by FPWR to identify these early signs of mental illness in PWS. I recently talked with her about her background, research, and perspective on PWS.

Topics: Research

Multidisciplinary PWS Clinic Opens At Vanderbilt University

A new multidisciplinary PWS clinic at Vanderbilt University provides comprehensive and innovative care of children and adults with PWS. The clinic will enable patients to see a variety of PWS specialists in one location, easing the burden on patients and their families.

Topics: News

I Turn to PWS Research for Hope, and to Other PWS Moms for Help

A special contribution by guest blogger Maegan Richard

Maegan shared her story via our Stories of Hope questionnaire.

How has your child exceeded your expectations?

When Cade was born, he was so lifeless and fragile. He kept the doctors on their toes and frazzled as to what was going on with him. When we finally got the diagnosis of Prader-Willi Syndrome at 4 weeks old and met with the local geneticist, he didn't give us much hope, or much any information, really...other than the struggles he'd face.

He was right to some degree, we have faced and currently face various struggles, but we have gotten so much more from Cade. He loves with every bone in his body and is the most genuine little boy you'll ever meet. I've always had high expectations for Cade and continue to, but one thing he has definitely exceeded as far as my expectations go is the ability to be happy. His happiness makes everyone who comes in contact with him smile!

Topics: Stories of Hope

Schaaf Research Connects Missing MAGEL2 Gene to PWS Symptoms

Prader Willi syndrome (PWS) results when a set of key genes on chromosome 15 are missing and/or inactive. Figuring out the role played by each of these genes in PWS is a major goal for PWS research. One of the genes in the PWS region is called MAGEL2.

Dr. Christian Schaaf is actively pursuing the question of how a missing — or disrupted — MAGEL2 gene translates into the classic symptoms of PWS and related genetic disorders. He's particularly interested in testing the connection between MAGEL2 and autism-like behaviors.

Dr. Schaaf's work has been supported by FPWR in two funding cycles. I recently talked with him about his background, research, and focus on PWS.

Topics: Research

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