My son was born with Prader-Willi Syndrome (PWS). PWS 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. They also typically struggle with appetite regulation and control. Many lack the ability to know and understand what it means to be full.
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.
Prader-Willi people develop through several general stages as they grow into adults.
As infants PWS babies…
Prader-Willi 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.
They usually are completely floppy at birth, like a rag doll. When you hold a Prader-Willi baby, you must take care to support their arms and legs, as they will flop to their sides when held. This is the first sign that your infant is a Prader-Willi baby.
Feeding issues due to suck and swallowing difficulties, as well as digestive issues becomes a mother’s main duty. It is also at this stage that many parents are faced with the option of beginning growth hormone injections in their babies, a standard modern-day treatment for Prader-Willi people. Although, it is not necessary for their life, it is generally considered.
At the next stage…
PWS babies and toddlers may not develop on a ‘normal’ schedule, due to low muscle tone or poor food absorption. Their development may be scattered. They may emotionally be close to their age, but physically lagging in age.
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.
As a parent, it lies on us to cross the great divide of their development and support them with therapies and good quality medical care. Many parents opt at this point to try natural therapies, diet changes and some still opt out of growth hormone at this time, due to some of the risks involved.
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.
As parents we find ourselves, managing more of their behaviors at this stage. However, health maintenance does not mean that there are not medical issues that certainly crop up and must be tended to.
As Prader-Willi people develop into adults, their ability to develop self-control begins to rise. They definitely need structure around their eating habits as they progress into full adulthood. The mental capacity of PWS people is varied. Some will be mentally and emotionally challenged at a childhood level. Others are quite intelligent and are more capable. However, because of the overactive food drive in Prader-Willi people, they will be unable to live independently for the rest of their lives.
With the onset of medications to control the food drive in PWS people and medications for behavior, there is great hope for their future.
Basic healthcare for Prader-Willi
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.
Some develop other health conditions like diabetes and other health issues related to obesity.
Do you know someone who has PWS?
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).