FPWR Blog

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

Everything and More: A Father's Journey Into the World of PWS

A special contribution by guest blogger Tony Chambers

When I was 10 years old, I realized I was never going to see my dad again. He didn’t die, he just packed up and disappeared one day. I was 4 when my mom knocked on his empty apartment door wondering why he didn’t pick me up from daycare. I guess it took me a few years to realize what was going on. I grew up with everyone else’s dad and with my grandfather, who from a distance, had a huge impact as a male figure in my life. This is important to understand when it comes to being Daniel’s father.

Topics: Stories of Hope

Identifying the Role of the 'Hunger Hormone' Ghrelin

There are numerous hormones that are intricately involved in connecting the stomach to the brain and telling us when we are hungry or full. One of these hormones is ghrelin, which is often referred to as "the hunger hormone." Although individuals with PWS have higher than typical levels of ghrelin, it is still unclear whether higher ghrelin drives hyperphagia in PWS. The underlying cause for higher levels of ghrelin in PWS is also unknown.

Teasing out the role of ghrelin will help direct potential therapies targeted at the ghrelin system. Dr. Jeffrey Zigman at the University of Texas Southwestern is working to answer some of the questions around ghrelin with his project "Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome?." The project explores whether high ghrelin in PWS is "good" or "bad."

Topics: Research

How One Family Turned March Madness into PWS Awareness

Nikol Maher, mom to Jack, turned her fear into determination using the family's love of sports.

Tell us about your family and how you connected to FPWR.

Jack was diagnosed with PWS when he was 3 weeks old. The news devastated our family and we could not begin to explain how fearful we were for our sweet boy. In that moment, we were overwhelmed by all of the medical procedures, terminology, and services Jack needed. As we waded through this new life, we needed something to give us hope. Jack is lucky to have a big, supportive extended family who adore him. Within 6 months, his aunts and uncles decided to start a fundraiser to raise money that we could donate to FPWR.

We knew that Jack's future depended on the crucial research that FPWR was funding and we were determined to do whatever we could to support them.

Topics: Stories of Hope

New Study on Social Functioning Intervention for Young Adults with PWS

Family members and caretakers of individuals with PWS know that those individuals are often the friendliest people in a room, particularly when they are young children eager to give a hug.

However, people with intellectual or developmental delays often suffer from social isolation, loneliness, depression, and anxiety, all of which can contribute to poor health.

An FPWR-funded project will recruit young adults for a group intervention aimed at improving social skills, perceptions and thinking, and managing a range of social and emotional issues.

Topics: Research

Harvesting Hope for PWS: Rachael Fischer and Julie Foge

While most of us spent this last Thanksgiving morning prepping a feast, watching football or entertaining family, Rachael Fischer and Julie Foge rose before the sun to host more than 850 runners for the 2nd annual Harvesting Hope 5K race.

The event took place in Stapleton, a suburb of Denver, and drew participants from 15 states! This incredible effort raised more than $50,000, and a whole lot of awareness, for Prader-Willi syndrome research.

 

Topics: Stories of Hope

Study Ties PWS Characteristics to PC1 Enzyme Deficiency [VIDEO]

FPWR is excited to share a new discovery in Prader-Willi Syndrome! Columbia University Medical Center researchers Lisa Burnett, PhD, and Rudolph Leibel, PhD, have published a breakthrough discovery in the Journal of Clinical Investigation that changes our understanding of PWS and opens up new avenues for therapeutic development.

Topics: Research

The Changing Force of My Daughter's Future ... Me

A special contribution by guest blogger Gwyn Spearman

It starts with one SMALL step...

That sums up our approach to dealing with our "new normal." We have taken small steps, toward big dreams, goals, hopes, and expectations for Ellie. First, we navigated the diagnosis. We researched. We connected with other families. We became involved with the Foundation for Prader-Willi Research. We learned to advocate and educate. We hosted our first event called One SMALL Step. And, we haven't looked back.  

This picture reminds me of so many things. I love it for how strong Ellie looks sitting up all by herself. Sitting took lots of hard work and determination on her part. She looks so confident in this picture, and proud of herself.  

Topics: Stories of Hope

De-Risking PWS Drug Development Through Preclinical Screening

Any drug development process proceeds through several stages in order to produce a drug that is safe, efficacious, and has passed all regulatory requirements. The discovery phase converts what we have learned about the causes and the biology of the disease through basic research into new drug candidates.

Before drug candidates can be tested in humans, they need to show they are safe and efficacious in animal models of the disease. This second phase, called preclinical stage, requires developing animal models that recapitulate at least some of the features or mechanisms of the disease for which the drug has been developed. When successful, drug candidates are typically tested in humans in clinical trials through three phases namely I,II and III before approval. A drug that is shown to be safe and effective in these three phases can be approved and marketed to the public.

Topics: Research

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