A young boy called the police in the middle of the night, telling them his home had been invaded and his entire family killed. The intruders were still in the house but he had hidden in the bathroom, so far avoiding detection.
Imagine his mother's surprise when she stepped out to get the paper that morning, still in her nightgown after a completely normal night, and was met by the police SWAT team.
The boy had Prader-Willi (PWS) syndrome. Confabulation is a common trait of people with PWS. He probably believed what he told the police, maybe he had seen a television show with that plot. Whether or not he believed it, he would never admit it wasn't true.
Now imagine you are one year out of college, in your early twenties, and you make the choice to live in a group home where you will have little control over your life - time will be highly structured and your food and money totally controlled by others - food because you are incapable of doing it yourself and money because you’d use it to buy food.
Prader-Willi syndrome is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.
The primary symptoms of PWS:
- a chronic feeling of hunger – hyperphagia
- low muscle tone - hypotonia
- very slow metabolism
- short stature (if not treated with growth hormone)
- incomplete sexual development
- social and motor deficits
This is a severely pared down list. More comprehensive and scientific symptoms are here and here.
“All people with PWS have cognitive and developmental disabilities and most have some level of mental retardation. Their average IQ is 70."
It’s not officially on the Autism spectrum but many people with PWS have behavior traits that seem awfully like Autism.
At birth the babies don't have a sucking reflex and, ironically, as infants and toddlers often suffer from failure to thrive. The hyperphagia seems to turn on late in childhood.
People with PWS usually have very small hands and feet. I’ve not seen this explained specifically but it seems to me to be connected with either the hypotonia or failure to mature sexually.
There are common facial anomolies - a narrow face with almond-shaped eyes, a small mouth with thin upper lips and down-turned corners.
Elizabeth was a twin, the eighth and ninth children of a 41 year-old mother. Her brother weighed well over seven pounds and she weighed more than six. They are now 46 and she is among the first generation of people with PWS to survive into middle-age. (The boy is more than fine, tall and healthy with a beautiful wife, two wonderful kids and a very successful career.)
Elizabeth’s specific diagnosis was difficult and gradual as were her treatment and education. In the 1960s and ‘70s almost no one in the medical community had ever heard of PWS. I believe it was in the late 1980s that knowledge of PWS and its specific symptoms and genetic makeup began to become more widespread though the syndrome was originally described in the 1960s.
Often people with PWS are born with crossed eyes and soft palates. Elizabeth had surgery on her eyes as a baby and is due for another one before long as one eye seems to have begun wandering off to the right. Her soft palate gives her more of a speech impediment than I've observed in others but a recent evaluation found that speech therapy wouldn’t provide much benefit that she couldn’t achieve on her own by speaking slowly and enunciating carefully.
People with PWS don't create enough saliva which makes conscientious dental hygiene crucial. Perhaps they make up for that with excessive production of earwax - we recently underwent a course of hydrogen peroxide ear washing just to enable the doctor to remove the impacted earwax that has been causing her hearing difficulties.
The PWSAUSA website refers blandly to “some behavior problems” which makes me chuckle. I’ve heard these problems described like this by a professional caregiver: “You can have a knock-down drag-out at the breakfast table if someone gets two extra raisins in their Raisin Bran.” One year before Elizabeth entered her current and truly excellent group home, and before costs had escalated to current levels, our county spent over $30,000 keeping her on holds in the locked psychiatric crisis ward because of the outbursts of temper that required police intervention. The outburst could be caused by someone disagreeing with her on an innocuous subject or by her perceiving meaning or even a tone in someone’s words that the speaker may have never intended. Anytime she (or many other people with PWS) can’t find some possession, even if it’s clearly been misplaced or if she hasn’t begun to look for it very seriously, she assumes it has been stolen and at one time she would then escalate quickly to violent rage. Another young woman tore her bedroom door off its hinges when she couldn’t find something she was looking for, insisting it had been stolen by a roommate. “Some behavior problems,” indeed. Most adults with PWS now take SSRIs and some kind of anti-psychotic medication.
In the past, people with PWS tended to die early of the effects of obesity. The obvious effects, of course, are heart and vascular disease and diabetes which are compounded by the slow metabolism and hypotonia of PWS. There are, however, less obvious ways that PWS kills. It's surprisingly easy for an overfilled stomach to rupture, particularly if it's walls are weakened by frequent weight loss and gain and I was surprised to learn that water can be deadly toxic. In the past 20 years, knowledge and treatment have progressed significantly thanks in large part to The Prader-Willi Association. As I understand it, it was begun and continues to be run largely by parents of people with PWS. It sponsors research and offers support and outreach and contributes to vastly better lives for the people and their families and caregivers. Genetic research generally has exploded in the time since Elizabeth's diagnosis and with the rise in obesity, hyperphagia and satiety are receiving more scientific attention.
Whether people with PWS live with their families or in group homes, best practice is to keep all food under lock and key. Even garbage and pet food should be locked – all food-like substances.
Group homes for the developmentally disabled, in my experience, generally house four people, often of mixed gender, with personal care staff in numbers that vary according to the needs of the residents. In Minnesota every effort must be made to encourage as much autonomy, independence and "normalcy" for the residents as they can manage. This requirement creates inevitable tension with PWS because the effective management of the syndrome requires strict, even rigid structure to create anything like a normal life.
In most group homes normalcy includes responsibility for household chores. In PWS homes unlike most others, those chores never involve food or the kitchen. In PWS homes the kitchens are locked, open only when staff is present and even then residents are not allowed to enter.
This is the briefest overview of PWS I could manage without making it a series of lists and web links. There are more symptoms with more varying frequency, and there are more dangers. I have made superhuman efforts (seriously, superhuman) to keep it near 1,000 words. There will be more.
I won’t include many pictures in the interest of Elizabeth’s anonymity. There are facial anomalies associated with PWS which are visible in the four year-old picture above and there are many more illustrations of that on the links included.
Finally, a recent picture. Every year the senior class of a local Catholic school puts on a prom for the disabled community. This is a picture of Elizabeth, in black, and one of her roommates arriving, escorted by a staff member. The staff member is a few inches over six feet tall. I blurred the faces a bit. Elizabeth met her date inside.