Feature
May
12
One Small Step
by Weekly Staff
Can you imagine living your life being constantly hungry, no matter how much you eat? The Richards, a local family with two small children, are fighting a rare genetic disorder called Prader-Willi Syndrome, which causes constant hunger, short stature and intellectual challenges. To make matters worse, individuals with PWS have very slow metabolisms and can only eat about half of the calories a typical person does.
The future of children with PWS has typically been morbid obesity, diabetes and a life filled with constant struggles, ending in early death. With the capabilities of modern research, finding effective treatments and eventually a cure for PWS is possible. Promoting health and fitness while raising money for the Foundation Prader-Willi Research, a One SMALL Step 5K Event will take place beginning at 8 a.m. on Saturday, May 14 at Mulberry Park in Houma. There will be a 1/2 mile fun run at 8:30 a.m. and the 5K begins at 9 a.m.
Cade’s Story
On May 14, 2010 Cade Richard was born at 37 weeks weighing 5 pounds 13 ounces. He was taken to the NICU for observation due to minor respiratory problems; he remained there for 25 days. After four days of being in the NICU, doctor’s discovered that Cade might have a chromosome abnormality. At 4 weeks old he was diagnosis of Prader-Willi Syndrome.
Cade’s short life has been an ongoing struggle and he continues to face many obstacles including feeding struggles, obstructive sleep apnea, silent aspiration and developmental delays. He began physical, occupational and speech therapy at just 6 weeks old. Since Cade was 11 weeks old, he has been receiving growth hormones injections daily.
Now, turning 1 year on the day of the race, Cade has taught the Richard family so much about life. He has made great progress and he has a smile that will melt your heart.
Continue to follow Cade’s journey through an online blog at www.maegan0514.blogspot.com
About Prader-Willi Syndrome
Prader-Willi syndrome 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 and was 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, hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity and intellectual disability.
In recent years, the syndrome has been genetically characterized as an abnormality of chromosome 15, definitive diagnosis is now based on genetic testing.
What are the symptoms of Prader-Willi syndrome?
The symptoms of PWS are thought to be caused by 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 hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions and fertility. Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is unclear how the genetic abnormality causes hypothalamic dysfunction.
There are two generally recognized stages of the symptoms associated with PWS:
Stage 1
In the first stage, infants with PWS are hypotonic or “floppy”, with very low muscle tone. Weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. As these children grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed.
Stage 2
An unregulated appetite characterizes the second stage of PWS. This stage most commonly begins between ages 2 and 6 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, the combination of these problems will lead to morbid obesity and its many complications.
Is there a cure for Prader-Willi syndrome?
Currently there is no cure for PWS and most research to date has been targeted towards treating specific symptoms. For many individuals affected by the disorder, the elimination of some of the most difficult aspects of the syndrome, such as the insatiable appetite and obesity, would represent a significant improvement in quality of life and the ability to live independently. The Foundation for Prader-Willi Research is interested in advancing research toward understanding and treating specific aspects of the syndrome, with the goal of an eventual cure for PWS.
For more information visit www.fpwr.org and www.pwsausa.org.
