Prader Willi Syndrome: My Child Can Eat Herself to Death
Rare Genetic Disorder Is Responsible
We all say it from time to time: "If I eat one more cookie, I'll die." But what if this were literally true?
Prader Willi Syndrome is a fairly rare genetic disorder--it happens about 1 in 12-15,000 births. A little glitch in chromosome 15 is responsible for the disease, but this little glitch causes many repercussions and heartache. When my daughter was born, she could not suck or cry or move very much. She was tested for many disorders, but it wasn't until she was three months old that we learned that she has Prader Willi Syndrome (PWS).
I immediately researched everything I could find about the disease, and what I found scared me. My innocent little girl who I had been feeding with an eye dropper to get enough food in for her to survive was going to have a voracious appetite? This weak little thing was going to eat from garbage cans?
What It Is Like to Have This Genetic Disorder
Sadly, by the time they are 2 or 3 years old, most people with PWS will begin to have an insatiable appetite. The message that they have eaten does not get to the brain because the hypothalamus does not function correctly. There is no drug or treatment that can take away the constant hunger. Because there is a spectrum for the disease, some people have more problems with hunger and food seeking, also called hyperphagia . As they get older, some people with the disorder are able to live at home, as long as they have constant supervision. Others have to live in a group home to protect them.
People with PWS are hungry all the time, but they also require fewer calories than a normal person. That means they can eat even less than a normal person, making it even harder to keep them from overeating. It is vital to avoid obesity, as it is very difficult for a person with PWS to lose weight. They need so few calories that it is nearly impossible to reduce the calories enough to be healthy and still lose weight.
Disease and Death in the Prader Willi Population
Death can happen quickly, even in a child whose weight is well-controlled. There are several severe gastric illnesses that parents have to worry about. One is stomach rupture and necrosis. Another is acute idiopathic gastric dilatation. For many people with PWS, respiratory problems are rampant. Because of weak muscle tone, breathing can be difficult. Acute respiratory illness with unexpected sudden death is a leading cause of death among people with PWS. Other conditions associated with PWS are sleep apnea, strabismus, hypogonadism, cognitive impairment, difficult behaviors, and hypotonia. If children become overweight, they are also at risk for diabetes, osteoporosis, and heart disease.
Early diagnosis and preventing obesity is very important. If weight is controlled, there is a good chance of having a normal life expectancy. In the past, the average life expectancy was 27 years old, but now that early diagnosis is more common, this seems to be changing.
Coping With the Specter of Obesity
So, how do we control our daughter's weight? Our kitchen is locked. We never leave food out where she can see it. No fruit bowl on the table. No candy dishes when guests are here. Since our daughter also has obsessive compulsive disorder (OCD), we have to keep to a very rigid schedule. If something changes in our routine, it is very difficult for her. We try to anticipate situations where she might be exposed to food. We can't attend many family and social events. We live with an extra presence in our home: the looming possibility of obesity.
Though I live with a high level of anxiety about our daughter's well-being, I also get a lot of satisfaction from seeing her grow to her potential. We know that it is likely that she will live in a group home eventually, so we try to treasure each moment we have her at home.