FPWR Blog

Study Uses Eye Tracking To Develop Biomarkers for Hyperphagia in PWS

Although hyperphagia (excessive appetite) is a hallmark of PWS, it's one of the most difficult features to accurately measure and characterize. Currently, the main tools in this area are questionnaires about food behavior and food interest. These can be answered by caregivers, or by the person with PWS. Although tremendously valuable, these measures are subjective, meaning they're influenced by the perception and opinion of the person filling them out.

To complement the information from these questionnaires, researchers are also working to develop objective biomarkers of food interest and hyperphagia in PWS. An objective biomarker is a reproducible and accurate measure, indicator or proxy.

Topics: Research

My Dreams Are Bigger Now Than Before My Son's PWS Diagnosis

A special contribution by guest blogger Laura Hollatz

I am a dreamer. Always have been, and always will be. When I was a little girl, I wanted to be Wonder Woman.  I also dreamt of living in a huge castle with all my friends that was made out of candy. I actually still dream about this, at least the castle and candy part. I could also fly and be anywhere in the world in under a minute. Yep, the good ole days when the sky was the limit. Dreams are good. A part of all our consciousness. They propel us to be the highest version of ourselves.

Topics: Stories of Hope

Our Grandchild With PWS Is Our Shining Star, Our Lovebug, Our Hero

A special contribution by guest bloggers Amy and Bob Chipetz

Brandon will be 5 years old on May 24. We remember seeing him, our first grandson, shortly after birth. We were all so elated of the arrival of our daughter and son-in-law's firstborn. Within 24 hours, concerns emerged about Brandon's sucking reflex which led to his eventual transfer into the NIC unit.

Everyone was simply ecstatic when he was discharged home 10 days later, and the struggle to get him the nourishment he needed given his feeding difficulties began. Brandon was a month old when the genetic testing returned with the diagnosis of PWS.

Topics: Stories of Hope

Dr. Yossi Tam Searching for Biological Basis of Osteoporosis in PWS

Individuals with PWS are at higher risk for osteoporosis than the general population. Osteoporosis is due to low bone mineral density and leads to weakened bone strength and increased risk for fractures. 

Dr. Yossi Tam at the Hebrew University of Jerusalem is working on a project to better understand the biological mechanism of increased osteoporosis in PWS. The project, "Role of the Endocannabinoid System In PWS-Induced Osteoporosis and Skeletal Growth," is funded by FPWR.

Topics: Research

Mom's Advice for PWS Parents: 'Watch Your Baby Fly!'

A special contribution by guest blogger Jennifer Terranova

We all have dreams when we plan a family. We all believe our babies will be the cutest, sweetest, most amazing little things in the whole wide world. We are all determined that our future little ones will achieve whatever their little heart’s desire. 

But when you give birth to a baby with a diagnosis, especially one which you have never even heard of, all of these thoughts swirl into one big pool of questions including: “now what” and “why us” and “can we even care for a baby like this?”.

Topics: Stories of Hope

2017 PWS Research Grants Cover Behavior, Genetics, Hyperphagia & More

We're thrilled to announce our first round of PWS research grants for 2017! Seven outstanding projects were selected for funding, totaling $795,221 in support. These projects address a variety of topics important in PWS, including behavior, genetics, and measuring hyperphagia

Topics: News, Research

Happy Dreams Return for Mom, as Baby Becomes Little Boy

A special contribution by guest blogger Becky McWilliams

When I became pregnant with my second child, I had endless dreams.

I dreamt about whether this mysterious little being would be a girl or another boy. I dreamt about the relationship that he or she would develop with our then 3 year old son, Jackson. I dreamt about all of the miraculous things that this little life would achieve. My dreams were filled with happiness. My dreams were filled with promise. My dreams were filled with hope.

The moment when my doctor told me that “the baby wasn’t growing correctly” is forever etched into my memory. Following this, a short period of repeated ultrasounds and static growth scans led to an unexpected and emergency delivery of this anticipated little being at a mere 33 weeks. The result; a 4 pound, 1 ounce magical baby boy that doctors immediately suspected something was “very wrong” with.

Topics: Stories of Hope

Dr. Ingrid Tein Studies Potential Benefits of CoQ10 in PWS

Many parents of individuals with Prader-Willi syndrome (PWS) have been faced with ambiguous information about the dietary supplement coenzyme Q10 (CoQ10). There are plenty of anecdotal reports of supplemental CoQ10 providing a great improvement in metabolic function and energy levels, which are so often disrupted in PWS, but also many stories about CoQ10 having little or no impact. We're currently lacking a controlled scientific study of the effects of CoQ10 in PWS, and the associated recommendations on proper dosing.

Dr. Ingrid Tein, an expert in metabolic disorders, received support from FPWR starting in 2016 for such a study — Mitochondrial Complex I Dysfunction in Prader-Willi Syndrome: A New Therapeutic Target — which is badly needed by the PWS community.

We recently had the opportunity to talk with Dr. Tein about her background and unique insights into PWS.

Topics: Research

A Beautiful Life: One Mother's PWS Journey from Fear to Hope

A special contribution by guest blogger and One SMALL Step host Rachael Petterson

Every night, for several weeks following my daughter Mae’s birth, I stayed up late reading medical journal articles and studies. I was determined to figure out why Mae did not cry, move her arms and legs, or open her eyes. The neonatal intensive care unit (NICU) doctors said that there might be something wrong with Mae, who was born two months early, but recommended we give her time.

The nurses said Mae was floppy. One told me that Mae was “special.” I walked into the NICU each morning with a pit in my stomach, fearful of what I might learn. My amateur scientific research made me feel like I was in control of something, even though logically I knew that the control I felt was an illusion. The day we had Mae transferred to a new hospital, a geneticist told me that she believed Mae had Prader-Willi Syndrome, or PWS. Several weeks later, tests confirmed the diagnosis. 

Topics: Stories of Hope

Biomarkers and Beyond: 2016 Update from PWS Clinical Trials Consortium

 

Over the past several years, the PWS community has been fortunate to see several potential therapies for PWS enter clinical trials. To date, the only FDA-approved drug for the treatment of PWS is growth hormone, but it's clear that new medications are needed to help those with PWS manage the insatiable hunger and behavioral challenges. Given the current pipeline, we are hopeful that over the next few years we will see therapies successfully break through and get FDA approval for PWS.

The PWS Clinical Trials Consortium is contributing to achieving that goal by addressing the key challenges of PWS clinical trials. This blog gives an overview of the Consortium's activities in 2016.

Topics: Research

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