PWS Awareness Month Day #2 : A Little Background on Prader-Willi Syndrome (taken from http://www.fpwr.org)
Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity.
There are two generally recognized stages of the symptoms associated with PWS, but today I want to focus on the second stage as this is the most life threatening. An unregulated appetite characterizes this stage of PWS and most commonly begins between ages 2 and 8 years old. Individuals with PWS lack normal hunger and satiety cues. They usually are not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is lower than normal. Left untreated, this combination of problems leads to morbid obesity and its many complications.
Because of this children and adults with PWS are usually on much stricter diets than their peers. During PWS Awareness Month, many families and friends have decided to commit themselves to a healthier lifestyle… whether this be to give up an unhealthy food or start an exercise program. So Andrew Schoenberger & I have joined this effort. Andy will be foregoing chips, desserts and all alcohol until June 1st!! I have decided to give up cheese (eek!) and liquor and to try to be overall healthier with food choices, as well as to get more active! If you would like to join us, comment and post what you are doing 🙂 We will keep you posted on our progress!!!
There are days that we remember so vividly, that we can recall what we were wearing, what the weather was like and even what we ate that day…. For me the day our child was diagnosed with Prader-Willi Syndrome is one of those days.
March 10, 2011- My brother, Keith, was visiting from California to celebrate Siena’s first birthday which was two days away. He was going to help me paint the living room (as I have a knack for deciding to paint right before lots of people will be at my house AND for roping people into helping me do it…) He had to run out for a minute to pick up keys he had left at a hot yoga class HE had roped ME into doing the night before. In the 40 minutes he was gone, life as I knew it would forever be changed. About 10 minutes after he left the phone rang, I answered, it was the geneticist who had seen Siena the week before. The blood tests were back from her methylation test. Siena tested positive for Prader-Willi Syndrome he informed me and offered to see us as soon as we could make it in to the hospital to answer questions (which we did the next morning). I have to admit that for a brief moment I felt a slight relief, after a year of searching, finally we had an answer… And then when that moment ended, a million new questions and unknowns came flooding in. I will never forget calling my husband at work to tell him the news. Before this day I had never heard of Uni Parental Disomy, never experienced a sleep study, never fathomed I could give my child a shot every day, never dreamed I would be writing this blog. It was a day that I mourned the loss of all the dreams I had for my child. It was the day I told myself, “we will never be normal again.”
March 12, 2014 – As we prepare to celebrate Siena’s 4th Birthday, I look back on that day and am filled with pride. Proud of how far we have come as a family, proud to have such a supportive network of family and friends and insanely proud of my sweet, sweet Siena. She has come so far and makes our hearts smile every day. She is an adoring little sister, looking up to big sister, Isla, and she is a caring and nurturing big sister to little Lucca. She is so brave through her sleep studies, her blood tests and nightly shots. Siena faces many daily challenges and we do not know what the future has in store, but we do know for certain that her “fan club” will be there with her every step of the way. Today our dreams for our child are larger than life. Today this is OUR normal.
Happy Birthday to our Sweetest Siena! Xoxo
“It takes a village to raise a child.” ….. that village came to life at South Hills Park on Saturday afternoon. Thank you just doesn’t seem like enough… Having you all there means more than you can ever know. People always ask us, “how do you do it all?”…. the truth its, we couldn’t do ANY of it without this amazing body of support. We love you all very dearly, and want you to know that just having you all there with us made the day so special.
Andy, Jamie, Isla, Siena & Lucca
Poppy was in charge of taking the girls to riding this week. The girls are growing quite fond of their ponies, Cinnamon and Miss Lily !
Join us on Sunday, July 14th at The Vineyard at Hershey and SavorTheSip to support The Foundation for Prader-Willi Research (FPWR). Guests of this charity wine festival will enjoy gourmet food by the JDK Group, handcrafted wine, live music by Silver City Rodeo & Occasions Disc Jockeys and tons of amazing auction items!! Purchase tickets today at http://bit.ly/savorthesip
About 6 months after learning Siena had Prader-Willi Syndrome, we photographed the wedding of Katie & Todd Foose. They were such a FUN couple… .We had an inkling that we wanted to befriend these newlyweds.:) .. Little did we know how powerful that friendship would become, little did we know how big their hearts were or how much they would love our girls. Saying that we have been touched by their support and advocacy for Siena is a total understatement. Katie & Todd write a blog called Table for 2, and after you read their latest post for Fig, you’ll understand why we look back on the day we met the Fooses and view it as one of the best days of our lives. Xoxo
Today is Rare Disease Day – Our daughter, Siena, has Prader-Willi Syndrome – a genetic disorder that is rare to most of the public, but a disease we live with every day. People all over the world, from every walk of life, live with a huge array of rare diseases.
Please participate in Rare Disease Day by sharing how a rare disease has affected your life. Is there an organization that has helped you?? Nominate them here and Siena’s HUGS will pick one winner by the end of today and donate $200 to the chosen organization…(if any business would like to join in the donation – let us know!!!)
Thank you for showing your SOLIDARITY with rare disease patients around the world.
Siena’s HUGS Foundation will be holding an Awareness Day on March 10th at the Annville Antique Station. Please join us!