Prader-Willi Syndrome (PWS) is a result of an abnormality on the 15th chromosome. PWS typically causes low muscle tone, short stature, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. Social and motor deficits are also common. PWS occurs in males and females equally and in all races. There is currently no known cure for this genetic disorder.
5-year-old, Siena (www.sienaeve.com), was diagnosed with PWS in March 2011 two days before her first birthday. When we first received this diagnosis, we were of course devastated, and it felt our world had come to a screeching halt. However, over the past four years we have come to realize that this is by no means the end of the road for Siena or any child with Prader-Willi Syndrome. Everyone who meets our sweet Siena falls in love with her immediately. Unfortunately though, because of PWS, Siena has experienced developmental delays, the most severe being her speech. Siena receives Speech, Occupational & Physical Therapies through the IU13 and will be starting KINDERGARTEN this coming school year. She will get to ride the bus with her big sister, Isla!
Siena's team of doctors and specialists are hands down some of the best in the world. She is followed by endocrinologist, Dr. Jennifer Miller, who she visits annually at the University of Florida, and who monitors Siena's Human Growth Hormone dosaging (Siena's receives an injection every night before bed). Dr. Miller is involved in some of the top PWS research studies, in which Isla, Siena & Lucca have all had the priviledge to be participants. Siena also has scoliosis, which is followed annually by Dr. Harold VanBosse at Shriner's Hospital in Philadelphia. Siena takes several supplements and medications to help with the many symptoms of Prader-Willi Syndrome; fish oil for overall brain and cognitive development, carnitine for daytime sleepiness and narcolepsy, PharmaNAC for skin picking, pre and probiotics to help with slow emptying of stomach, and synthroid for hypothyroidism. To monitor her dosages properly, she must have her blood drawn and tested every three months. Due to severe sleep apena, Siena had her adenoids removed in June 2011 and again in November 2013, at this time she also had tubes put in her ears and her tonsils removed. Siena takes all of this in stride and usually better than most of us adults!
Over the past year we have noticed an increase in her interest in food, and although she is still tiny at only 37 lbs, we monitor what she eats and what food we have around her very closely. It is also very important to keep her active. Siena has been swimming all summer and goes to therapeutic horseback riding once a week- she LOVES it and it has really helped control her scoliosis!
A person with Prader-Willi Syndrome lives with a constant feeling of hunger, their brain believes it is starving and their metabolism uses drastically fewer calories than normal (approximately 60% less calories of a typical peer). This can lead to excessive eating, diabetes and life-threatening obesity. In addition, PWS can cause low muscle tone, short stature if not treated with growth hormone, scoliosis, speech apraxia, obsessive-compulsive disorder, difficulty controlling emotions, cognitive delays, skin picking, mental illness and incomplete sexual development. While there are medications and surgeries to help control many of these symptoms, there is no known cure for the hunger and our children are left feeling as if they are starving, even when their bellies are full.
We are extremely humbled by our fellow PWS Families, amazing doctors who love our kids so much and most definitely by our community of friends and family who have been by our side over the past 4 years. I can't say life for Siena will always be easy, but we do know that with all of your support there will always be someone willing to lend a helping hand.
All proceeds from Siena's PWS Walk 2015 directly benefit Siena's Special Needs Trust. Her Trust helps pay for visits to her doctors, surgeries, medications, therapies, physical activites and all things that help Siena lead a healthy and happy life. We thank you from the bottom of our hearts for all your help! And PLEASE help continue to spread the word, raising awareness for Prader-Willi Syndrome will help bring understanding and acceptance to the PWS community and could possibly bring us closer to finding a cure!!
Andy, Jamie, Isla, Siena & Lucca Schoenberger