RESEARCH, RESEARCH, RESEARCH!

I have to admit SCIENCE was NOT my best subject growing up, and I always thought, “well, I won’t really need it in the future anyway”!!   Boy, was I wrong!  Here I sit with a daughter with Prader-Willi Syndrome, trying to raise money for its research… and hence, SCIENCE!

Having just attended the Foundation for Prader-Willi Syndrome Research’s Scientific Day in Indianapolis, I must tell you that most of the SCIENCE is STILL over my head!  BUT, what I do understand is that without it, Siena would not be where she is today.  The researchers and scientists that are funded through FPWR are CHANGING THE FUTURE for those living with Prader-Willi Syndrome.  And while I may not have understood every “sciencey” word, I had to hold myself back from running up and hugging each and everyone of the doctors and scientists for dedicating their lives to making a difference in ours.  They are truly celebrities to us!

So now, since I am helping to promote the 2nd Annual Philly Live Life Full Gala being held on December 2nd to benefit the Foundation for Prader-Willi Syndrome Research, I thought I might help you all to understand what exactly the gala will help fund!  From Endocrinology to Mental Health to Obesity the project categories are diverse to cover all the many challenging symptoms associated with PWS.

The first project I would like to introduce is one I found extremely interesting that was presented by Tony Holland, MD, and involves vagus nerve stimulation to help treat temper outbursts and emotional dysregulation that characteristically affect people with PWS.

Here is the link to read more about Dr. Holland’s project.  https://www.fpwr.org/fpwr-funded-projects/proof-of-concept-study-of-vagus-nerve-stimulation-from-an-external-device-in-pws-year-2/

Thank you for reading and hope this will help you get excited about raising money for research!!  OH!!!  And EARLY BIRD TICKETS ARE NOW AVAILABLE FOR THE GALA!

https://www.fpwr.org/events/2017-live-life-full-gala-philadelphia/

cropped-2017girlssummer-2143-edit.jpg

2nd ANNUAL LIVE LIFE FULL PHILLY

I am guessing you all know I have a slight obsession for raising awareness about Prader-Willi Syndrome, haha!!!!!

While I am normally found photographing conferences or various fundraisers for The Foundation for Prader Willi Research (FPWR group page), this year I was invited to join the planning committee for the 2nd Annual Live Life Full Gala in Philadelphia on December 2, 2017!!!!! I am so excited to help make this an amazing event and raise money for PWS research!!!!

We are looking for sponsors, silent auction items, as well as gala attendees (HINT, HINT)!!!! Please contact me if you or anyone you know may be interested in becoming involved AND PLEASE HELP ME SPREAD THE WORD!!!! HUGE THANK YOUS to Kate Yingling Schumacher & Trisha Hawthorne for joining the planning committee with me!!!! And of course, this wouldn’t even be possible without two amazing, super-hero PWS moms who pull it all together – Rebecca Wolf McWilliams & Samantha Chipetz!!! xo

Yes, I may be slightly obsessed with raising awareness for PWS, but I am COMPLETELY OBSESSED with finding a way to help our sweet Siena to LIVE LIFE FULL!!

#takethatPWS #cantstopwontstop #sienaeve #LiveLifeFullPhilly2017

Save The Date

That’s a Wrap #PWSAWARENESSMONTH

Today is the last day of Prader-Willi Awareness Month, thank you for following our journey.
We had a very rough beginning to our 2017 and know first-hand how important it is to educate our community about rare diseases. In January, when Siena suffered extreme abdominal pain, we went to our local Emergency Room and were sent home TWICE with them telling us it was just constipation. Two characteristics of PWS – high pain threshold and slow digestive system had masked a life-threatening abscess that was causing a major infection in Siena’s body. Thankfully….VERY THANKFULLY… we ended up at a hospital that was knowledgeable about Prader-Willi Syndrome and took the steps needed to find the abscess. Siena was put on IV antibiotics and had to fast for 6 days while she remained hospitalized, and continued antibiotics for 2 weeks after being sent home.
We are still doing testing and trying to figure out what caused the abscess and it could turn out it has nothing at all to do with Prader-Willi Syndrome. BUT, the fact remains that we could have lost our sweet, sweet girl because our local ER did not have the knowledge about PWS, nor did they listen when I tried to explain to them about her high pain threshold. Instead, we were sent home and told to double up on the mirilax and give her an enema.
KNOWLEDGE and AWARENESS is what SAVED our daughter’s life. Scary, however, that we had to drive almost 2 hours to find it. The reason we tell our story is not for anyone to ever feel sorry for us or for Siena, but to spread AWARENESS and KNOWLEDGE about Prader-Willi Syndrome…. so that hopefully the next time she needs emergency medical attention, we can get the care needed right away…. so that someday, our words will find the ears and mind of someone who will find a CURE.
“If I can’t find the cure, I’ll
I’ll fix you with my love
No matter what you know, I’ll
I’ll fix you with my love
And if you say you’re okay
I’m gonna heal you anyway
Promise I’ll always be there
Promise I’ll be the cure”
#cantstop #wontstop #PWSAWARENESSMONTH #PraderWilliSyndrome #SienaEve

PWS Awareness Month Kick-Off

May is Prader-Willi Syndrome Awareness Month and I would like to kick off my month of PWS posts with the announcement of the 2nd Annual Live Life Full Gala being held at Punchline in Philadelphia on December 2nd ! I am so excited to be serving on the honorary committee this year!!!! Save the Date and stay tuned for more posts as we honor PWS all month long! XoIMG_8681

World Rare Disease Day 2017

16711979_10154591715589051_7500975312260275522_nToday is World Rare Disease Day. This day has come to mean a lot to our family since Siena was diagnosed with Prader-Willi Syndrome, but this year it hits even closer to home. In January Siena spent a week at Nemours Children’s Hospital after they discovered an abdominal abscess causing a life threatening infection. Twice she had been sent home from a local hospital with the diagnosis of constipation, and I cannot even stomach to think about what could have been, were it not for our gut instincts, knowledge of PWS and guidance from Siena’s PWS specialist/endocrinologist. We still do not know what caused the abscess, and are left with more questions and more of the unknown.

This entire experience has truly opened my eyes to the importance of advocating for our Rare Disease community. So today I ask you to wear your favorite pair of jeans in support of RARE DISEASE DAY and our girl Siena and if you tell just one person about the meaning of this day, you never know what impact that could have on the future of Rare Disease. #WRDD2017  https://globalgenes.org/