It’s a syndrome you wouldn’t wish on your worst enemy, among the cruelest conditions that exist. Yet despite the fact that Prader-Willi Syndrome means insatiable hunger for its victims – who would beg, borrow or steal food and overeat themselves to death if allowed to follow their instincts – today there is good news.
When I last interviewed doctors and families about PWS 17 years ago, victims in the Third World died by the age of 15 and in the Western world by 40. Today, however, growth hormone can improve their physical condition and, if fortunate enough to live in a caring and controlled environment, PWS patients can live to 60 or even 70.
The incurable disorder, discovered in 1956 by 3 Swiss physicians, Drs. Andrea Prader, Dr. Alexis Labhart and Heinrich Willi, is caused by a mistake – a missing piece of chromosome #15. The parents are not “to blame”; while genes are involved, PWS is not an inherited disease in almost all cases. In about 70% a deletion is found on the chromosome donated by the father, although the father’s chromosomes are normal. In less than a third of PWS cases, the paired chromosomes are normal, but both allels of the chromosome #15 pair came from the mother.
Statistically, there is one case of PWS per 25,000 births – with 400,000 such patients in the world and 140 in Israel. Although few laymen have ever heard of it, medical students do learn about it, and neurologists who don’t treat know where to refer patients.
The national center for the care of PWS patients of all ages was established at Jerusalem’s Shaare Zedek Medical Center (SZMC) and recognized by the Health Ministry.
As the satiety center in the brains of PWS patients doesn’t function, compulsive eating and obsession with food are the major problems. But they are not the only ones: Motor development is poor and delayed; speech and language problems are common, perhaps because poor muscle tone affects vocal muscles or less saliva is produced.
The average IQ in a PWS child is 70, with a range from 40 to 105. There are behavioral problems, including stubbornness and violent temper tantrums that increase with age after the preschool years, when most patients are pleasant and cooperative.
Male patients are sterile due to hypogonadism; pregnancies among the women are extremely rare. Dental problems are frequent due to constant eating (among those whose diet is uncontrolled), as well as thick saliva, bruxism (teeth grinding) and poor oral hygiene.
Most are naturally short with more fat than muscle, and they have small hands and/or feet. These symptoms are usually ameliorated, as nearly all of them receive human growth hormones. Cross eye, myopia, sleep apnea, scoliosis and even Type II diabetes are more likely in PWS patients than the general population. They tend to have a high threshold of pain and a dysfunctioning body thermostat; thus they won’t complain of pain until infection is severe.
Many will put anything into their mouth – including garbage – but two-thirds of them are unable to vomit. It’s obvious that all these problems put great pressure on families, and some parents of PWS children have been known to divorce because of this.
Many of the youngsters get into trouble with the law by stealing food right under the noses of store owners, because they know they’ll get caught and be arrested by the police. At the police station, they were sure to be fed.
FOR MY first article in 1997, I interviewed one-time Israel Air Force commander Maj.- Gen. (ret.) Herzl Bodinger, a businessman who had left military service less than a year before. He and his actress wife Urith Boger have a son, Doron, then 15, who was born with the syndrome, which some time until he was diagnosed. Their other three children are normal.
“PWS is worse than a drug addiction, because drugs are not available in abundance throughout society, but food is,” Bodinger said then. “Food is an incredibly significant part of our social life and culture, and it’s all around us. That makes the risks, and the temptations, so great.” Boger, who had quickly noticed that the baby was not nursing properly and always seemed sleepy during the day, established but Urith felt he wasn’t nursing properly, and he always seemed sleepy during the day.
During the first two years of life, a PWS baby is weak and hypotonic, like a rag doll.
“They don’t have the strength to suck; you have to feed them with an eye dropper,” Bodinger explained. “But then suddenly, when they are toddlers, everything changes.
They suddenly want to eat everything; they seem addicted to food.”
When Doron lived at home, his parents had to put locks on their refrigerator and cupboards. “At night, we turn on an alarm that rings if Doron goes into the kitchen,” Bodinger said then. “When he was in kindergarten, he would bargain with classmates to get their 10 o’clock snacks. He was like Houdini; he became adept at breaking into metal closets.”
Urith established the Israel Prader-Willi Syndrome Association (www.pwsil.org.il) and ran it out of her Ramat Hasharon home when Doron was 10 years old; now he is 32 and lives in Kfar Tikva, a village home for adults with a variety of syndromes. Starting in June, Boger – who is currently pursuing her doctorate in Hebrew literature – hopes to hand over the reins of her association to the young father of a PWS patient.
Today, Boger is much more optimistic.
“We in the association did important things.
There is a law now that the National Insurance Institute must automatically recognize all PWS patients as having 100% disability.
But there is more to do. There are two hostels in the country for PWS adults [the larger one in Mevasseret Zion and the other in Karmiel], but at least one more is needed.
And PWS children should be accompanied to school by a trained assistant. There is no disorder with a greater burden of care.”
PROF. VARDA GROSS-TSUR, a senior pediatric neurologist at SZMC who heads the hospital’s national PWS syndrome center, told The Jerusalem Post that 130 of the country’s 140 diagnosed patients from all over the country are treated there. “We are multidisciplinary, with experts in neurology, psychiatry, psychology, dietician and others as well as consultations with specialists in other fields called in,” said Gross-Tsur, who with Boger organized a conference on PWS at Kfar Hayarok recently. “We work holistically and have a lot of experience.
Since we treat almost all individuals with the syndrome we are involved in some research projects mainly dealing with hypogonadism, the etiology and its treatment.
We will hope soon to publish an article on the signs of prenatal PWS. We found that there is a typical combination of symptoms such as polyhydramnios, decreased fetal movement, a discrepancy between the head circumference, which grows more than the abdominal circumference.
It is a suspicious finding. The mother can do amniocentesis and a specific methylation test can enable a diagnosis of the syndrome. In such a case termination of pregnancy can be performed if the couple wants to.”
Geneticists know a huge amount more about the syndrome today than they did 17 years ago, Gross-Tsur added. “There is much more awareness of the disorder today families communicate and help each other.
Homes for patients, with a secure food environment, can help them keep their weight stable. Besides growth hormone, which improves the way they look, they also get calcium and vitamin D against osteoporosis, effective psychiatric treatment and hormonal replacement therapy. There quality of life improved very much and I hope that a solution to the hunger will be found soon.”
DR. LARRY GENSTIL, a psychologist who runs the Mevasseret Zion hostel for 16 PWS adults and teaches at SZMC’s school in the pediatrics department, brought some of the world leaders in treating PWS patients to the Kfar Hayarok conference. They were four from the US, two from Germany, oe from Chile and one from New Zealand – members of the International Prader-Willi Syndrome Organization (IPSO)’s professional provider/caregiver board, as is Genstil.
They told the Post at Shaare Zedek that they are experts in day-to-day control and support of patients, not actual medical care.
The board chairman is Dr. Norbert Hoedebeck- Stuntebeck from Germany; other members besides Genstil are Mary Ziccardi, Dr. Janice Forster and Jackie Mallow of the US; Susanne Blichfeldt of Denmark; Dr.
Fanny Cortes of Chile; John Ford of New Zealand; and Hubert Soyer of Germany.
None of the foreigners except for one had been to Israel before, but they were impressed by what they heard and saw during their visit. The provider/caregiver board members converse via Skype every two months to update each other.
Genstil noted that Abu Ghosh, the Arab village outside Jerusalem, has the highest incidence of PWS in the world due to consanguinity (inbreeding by first cousins). Forster, a developmental neuropsychiatrist from Pittsburgh with nearly three decades of experience in the field, said she provides knowhow about managing the needs of residents in live-in PWS facilities around the world. Soyer, who runs facilities for 6,000 disabled, including PWS patients, in Bavaria.
“These include group homes and sheltered workshops to give them jobs. We are thinking of adding PWS children as well.”
“Patients come from every ethnic and socioeconomic group in the world,” said Cortes. “No one knows how long they will be able to live, but they are living healthier today, even though they show premature aging.”
Today, said Genstil, locks on cabinets and refrigerators are not the only way of controlling patients’ food intake. “We use exercise and motivational therapy, and they get a lot of vegetables and other low-calorie food on their plates. Patients get only 1,000-or-so calories a day, but in five daily meals so they have the feeling that they are eating more.”
There is no magic pill – no psychiatric drug – that can help them, but the IPSO board members said they hope that someday there will be. In the meantime, neurotransmitters, hormones like oxytocin and hypnotism were considered as possible treatments, but they have not been proven to help.
“The patients think about food a lot of the time, but that’s not the same as hunger,” said Forster. “Their brains don’t process cues like other people. The syndrome is very complicated. It’s still a black box. Even today, the best-proven methods of prolonging life are environmental measures in group homes.”
“Our patients have no problem fasting for Yom Kippur or Ramadan, but once they start eating after a fast, they can’t stop,” said Genstil.
There are even people with both PWS and anorexia, who are less hungry, but enjoy food more than regular people do. Even though most patients have below-average intelligence levels, one of the PWS individuals is a highly intelligent 13-year-old girl with an IQ of 120. “She is very good at math and articulate. She described to me what it feels like when she feels satiated in her mouth. She can even create her own satiety with guided imagery and use it when she wants.”
As patients may get in trouble with the law by stealing food, Genstil said he meets with policemen in the Mevasseret Zion station to familiarize them with the syndrome. “Some like to get arrested for theft, because then the policemen feed them. If affected families move to a new area, it’s a good idea to give them photos of patients so they can be identified before they get into trouble. There are even cases of sexual services in exchange for food.”
When people from churches see them pleading for food, they feed them to be kind,” said Mallow. “When they are stressed, their judgment is terrible. But they can sometimes seem very competent and very sweet and charming.”
“When you meet people with the syndrome, often it’s actually fun. They are social, nice people and have a sense of humor. But the stresses in the family are enormous,” said Ford. “Parents get little sleep, and often they break up.” The staff members of group homes are under constant pressure, and they have to be extremely well motivated and trained and to care a lot about the residents. Without them, PWS patients would have much shorter lives.