Hyperphagia or the feeling of abnormal, constant hunger is one of the most life-threatening symptoms of Prader-Willi Syndrome. This typically begins to occur when children with PWS are 8-10 years old, but varies for every individual.
Over the years Siena has progressively become more and more fixated on food, but we have not yet seen food seeking behaviors that some of her peers with PWS have experienced. While, as of now, we do not have the need to lock our refrigerator, freezer, pantry or trash can we know many families that must do so to keep their child with PWS safe. The insatiable feeling and obsession with food can lead to obesity, diabetes and intestinal issues that can lead to death.
I cannot say Siena has a constant feeling of hunger at this point, but I can say that food is an obsession for her. She wakes up asking if it is “wake up time” so she can have breakfast. She is very aware of all food around her at ALL times, and food is constantly on her mind. There have been a few times in recent weeks that we have found her with food items we did not say she could have, in areas of the house they should not be. Now, listen. I have two other children, and so I know taking food without asking is not uncommon. But, when you find your child who has PWS with food they snuck out of the pantry, well it is a sinking feeling that is hard to describe other than just pure worry.
Because the symptoms of PWS affect every individual differently and some of these symptoms manifest over time, we must ALWAYS be on top of our game and ready for anything.I came across this article and wanted to share. Thank you for reading and your support. xo https://themighty.com/…/prader-willi-syndrome-what…/…
If you would like to donate to Siena’s fundraising page for the Foundation for Prader-Willi Research here is the link
Wow. I didn’t quite realize how emotional I would be counting down the days to Siena’s 11th Birthday and the 10th anniversary of Siena’s Prader-Willi Syndrome diagnosis, but here I am… a puddle of tears. Andrew Schoenberger has made a lot of videos for the girls and I thought today I would share Siena’s First Year compilation.
When we first heard the words “Prader-Willi Syndrome” we had no clue what anyone was talking about, and so please know that we completely understand if you have never heard of it either.
What is Prader-Willi syndrome?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.
PWS was first described by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi in 1956 based on the clinical characteristics of nine children they examined. The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass, and early-onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity, and intellectual disability.PWS results from an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.
The symptoms of Prader-Willi syndrome are likely due to dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including regulating hunger and satiety, body temperature, pain, sleep-wake balance, fluid balance, emotions, and fertility. Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is not yet clear how the genetic abnormality causes hypothalamic dysfunction.
The symptoms of PWS change over time in individuals with PWS, and a detailed understanding of the nutritional stages of PWS has been published. Overall, there are two general stages of the symptoms associated with PWS:
Infants with PWS are hypotonic or “floppy”, with very low muscle tone. A weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. These infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. As these babies grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed. Toddlers typically enter a period where they may begin to gain weight easily, prior to having a heightened interest in food.The symptoms change over time in individuals with PWS.
Childhood and Beyond
An unregulated appetite and easy weight gain characterize the later stages of PWS. These features most commonly begin between ages 3 and 8 years old, but are variable in onset and intensity. 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.In addition to obesity, a variety of other symptoms can be associated with Prader-Willi syndrome. Individuals usually exhibit cognitive challenges, with measured IQs ranging from low normal to moderate intellectual disability. Those with normal IQs usually exhibit learning disabilities. Other issues may include growth hormone deficiency/short stature, small hands and feet, scoliosis, sleep disturbances with excessive daytime sleepiness, high pain threshold, speech apraxia/dyspraxia, and infertility. Behavioral difficulties may include obsessive-compulsive symptoms, skin picking, and difficulty controlling emotions. Adults with PWS are at increased risk for mental illness. PWS is a spectrum disorder and symptoms vary in severity and occurrence among individuals.
Today we celebrate Rare Disease Day. “What does that mean?,” you may ask…
Well, for our family it is a way for us to bring awareness to Prader-Willi Syndrome, and to honor our daughter, Siena, who despite all the obstacles she faces, THRIVES while living with this rare disease. She amazes us every day with her wit and charm… and “occasional” stubbornness.
This little girl who had such low muscle tone when she was born that she could not suck from a bottle, didn’t walk until she was two years old, and has had speech, occupational and physical therapy since she was a baby IS NOW reading, writing, singing , dancing, swimming, playing clarinet and piano, and is hilarious! Her sense of humor leaves us in stitches!
Since Siena was diagnosed in 2011 there have been TREMENDOUS efforts made for the treatment of PWS, but we still do not have a cure. There may never be a cure, but WE HAVE HOPE that Siena will be able to live an independent life, FULL of happiness and making her dreams come true. While we would never want to change all of the amazing and RARE qualities that make Siena..well, Siena… we WILL do anything to help eliminate the challenges she faces today (which change daily) and the days that lie ahead.
According to Global Genes, approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease. THANKFULLY, Prader-Willi Syndrome has two amazing resources. The Prader-Willi Syndrome Association https://www.pwsausa.org/ and the Foundation for Prader-Willi Research https://www.fpwr.org/ and YES! you will see Siena on FPWR’s website! xo
Over the past 10 years we have supported FPWR and their research efforts to ensure that the most important scientific research is funded to find treatments for the many complications of PWS. Today there are many drugs in clinical trials that have the potential to change Siena’s future and possibly afford her that independent future that we dream of for her. In honor of Rare Disease Day and Siena, we’ll be giving to FPWR. If you feel inclined to give to a charity for Rare Disease Day, a very special Grandmother has pledged to match up to $12,000, so you can double your impact! Here is Siena’s Personal Fundraising Page!http://act.fpwr.org/site/TR?pg=personal&fr_id=1732…
RARE FACT : In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.
IF YOU KNOW SOMEONE LIVING WITH A RARE DISEASE GIVE THEM A SPECIAL SHOUT OUT TODAY.
And as always, THANK YOU, THANK YOU, THANK YOU for your love & support. xo
5 days til this Rare Girl turns 11 on March 12th! Prader-Willi Syndrome is caused by an abnormality of chromosome 15, and so for the next 15 days I will be sharing about our girl SiSi and her life living with PWS. February 28th we will also celebrate Rare Disease Day, so this falls at a perfect time because ALL DONATIONS made to the The Foundation for Prader-Willi Research are being matched by a special Grandmother now through Feb 28th! What better time to make your tax deductible donation?! Here is Siena’s BIRTHDAY CELEBRATION fundraising page!!! http://act.fpwr.org/site/TR?pg=personal&fr_id=1732…As always thank you for all the love and support you have shown our family over the years! (March 10th will mark 10 years since Siena’s diagnosis!!) xoxo
Thank you for visiting our page! Our sweet Siena was diagnosed with Prader-Willi Syndrome on March 10, 2011, two days before her first birthday, and at the time, it was earth-shattering. Although we finally had an answer we had searched for since she was born, we felt lost and alone. Thankfully, in November 2011, we were blessed to find our TRIBE and that was within the other PWS Families we met through the Foundation for Prader-Willi Research.
Since Siena was diagnosed there have been TREMENDOUS efforts made for the treatment of PWS, but we still do not have a cure. There may never be a cure, but WE HAVE HOPE that Siena will be able to live an independent life, FULL of happiness and her every dream. While we would never want to change all of the amazing and RARE qualities that make Siena..well, Siena… we WILL do anything to help eliminate the challenges she faces today and the days that lie ahead.
Over the past 8 years we have supported FPWR and their research efforts to ensure that the most important scientific research is funded to find treatments for the many complications of PWS. Today there are many drugs in clinical trials that have the potential to change Siena’s future and possibly afford her that independent life that we dream of for her.
In honor of Prader-Willi Awareness Month, Siena and all of her friends, we’ll be giving to FPWR. We are making a BIG ASK for anyone who would like to donate, to shoot for a minimum of $15 BY May 15th in recognition of 15th Chromosome. YOUR DONATION WILL will be matched up to $50,000 UNTIL MAY 15th, so you can double your impact!
Because of ALL of YOU, Siena has the confidence… the strength… the determination… to defy PWS. BECAUSE SHE WILL NOT GIVE UP, SHE WILL MOVE MOUNTAINS. And as always, THANK YOU, THANK YOU, THANK YOU for your love & support, it truly does take a village. xo