My son’s genetic syndrome is Prader-Willi Syndrome (PWS), which is a genetic mutation of the fifteenth chromosome, and affects many of the body’s systems. People with PWS have low muscle tone throughout their entire body, which affects their health in a variety of ways, but frequently in growth hormone levels, the respiratory system, endocrine system, and the digestive system.
That being said, each PWS person is completely unique, as all individuals created by God, but some will have very mild symptoms of this syndrome, and others will have more severe cases. As in any genetic condition, there are also other genetic abnormalities that may occur alongside PWS.
As infants in Prader-Willi Syndrome
PWS babies usually cannot suck adequately to feed themselves. They may need at the least extra assistance to suck, to eat, remain awake, or move. They also may not cry for food, and need to be fed on a schedule so that they will get enough nutrition. Gastronomy medications are frequently needed for reflux and any other medical conditions related to their disability.
At the next stage…
PWS babies and toddlers may not develop on a ‘normal’ schedule, due to low muscle tone or poor food absorption. They may not sit up until nine months, crawl until one year, or even walk until age three or four. However, there are also some that seem to stay developmentally and physically close to a ‘normal’ timeline. Once again, since the spectrum is very wide and depends on the individual child.
In childhood in Prader-Willi Syndrome
PWS children may begin the struggle with a strong urge to food-seek. Most PWS people have a condition termed hyperphasia, which is an inability to continue to feel the fullness of their stomach. In most households, cabinets and refrigerators may need to be locked up, and in others there may be a fully locked kitchen, as PWS people can lack self-control and literally eat themselves to death.
PWS children may also experience behavioral difficulties for a variety of reasons related to lack of regulation in the hypothalamus section of the brain. They may exhibit obsessive compulsive disorders, anxiety, mood swings and about 50% manifest autistic behaviors. They may also still continue to struggle with speech and physical strength, weight gain and diabetes, as well as other endocrine-related issues.
In adulthood in Prader-Willi Syndrome
These problems will continue to be present, and may even worsen until the children finish adolescence. As their ability to develop self-control begins to carry over, they will tend to see the need for structure around their eating habits as they progress into a working adult. The mental capacity of PWS people is varied, and with the arrival of modern medecine, more people are at a more average intellectual ability than below average.
Some individuals may need to live in a group home to have their diet and behavior structured, while others may be capable of functioning on their own with minor supervision. It simply depends on the PWS person and their ability to control their overwhelming drives.
General treatment options
PWS people usually have very little physical control over their food drives and/or behavioral control. While environmental controls are beneficial in PWS, they are not usually the whole answer in managing a person with PWS (yet, there are always exceptions). Many people benefit from a diet low in carbohydrates, and a defined eating schedule with controlled portions, which both helps the hyperphasia, and keeps their weight under control. Many also are on growth hormone injections, and take supplements to keep their bodies in good health. They may also need to take antidepressants and other mood-altering medications to regulate their inability to control themselves.
If you think your child has PWS, please contact the Prader-Willi Association. If you would like more information about helping with research for PWS, please contact PWSAUSA, or the Foundation for Prader-Willi Research. If you want more information about using a more holistic approach to treating PWS, then go to PWS Dots. All of these have Yahoo listservs and more Facebook pages than you can imagine, if you are interested. Or, please feel free to contact me by email and I can direct you to the proper group (s).