From the Jerusalem Post Science & Health Section , September, 1995
Pixies With a Problem
by Judy Siegel-Itzkovich
CHILDREN with Williams Syndrome (WS) have pixie faces with pug noses and the beguiling habit of hugging and even kissing complete strangers. This wouldn't be so bad, except that such extroversion can become downright dangerous as they grow older, and because the syndrome can include a variety of serious physical and cognitive problems as well.
So rare that it isn't even mentioned in some medical encyclopedias, WS affects one in 20,000 children (about five Israeli newborns each year), and was identified as a syndrome only in 1961. There are so few cases and the symptoms so varied, that physicians are likely to have difficulty recognizing it.
Variety Israel, a voluntary organization established in 1967 by former president Chaim Herzog, provides assistance to some 3,000 children suffering from a variety of medical conditions, some of them as rare as WS, who "fall between the chairs" of government responsibility. According to Variety volunteer Orka Eyal, the organization quickly deals with all applications and sends a volunteer to each home to investigate a child's needs. If no public agency is bound to help and the need is genuine, Variety provides actual goods or services, such as dental care, a computer or a caregiver, instead of giving each family money. It raises funds from entertainment and social events, private donors and the sale of gold, heart-shaped pins during a special campaign around the country last week. The original Variety organization was founded in the US 70 years ago, when a mother of eight left her youngest baby in a basket outside a circus tent, asking the entertainers to care for the child because she couldn't. There are now Variety "tents" (national organizations) in over 100 countries, including Israel.
The Williams Syndrome Society (WSS) was formed here two years ago by the parents of two children who developed it from a spontaneous mutation of a gene that causes the lack of an important body chemical called elastin that affects brain function.
It can also be transferred to offspring by carriers or parents suffering from the syndrome itself. "It is rather like the opposite of autism, for they are super-social and very outgoing. Fortunately, my daughter Rahel, now 101/2, has a relatively mild case that expresses itself mostly psychologically and dentally," says WSS chairwoman Gilat Blecher, an artist and single parent in Tel Aviv. "WS children are often missing teeth or have very small teeth, and they need expensive dental care. Variety Israel supplied NIS 2,000 ($650) in dental care for my daughter. But there are many children with all kinds [JU] of other symptoms, and some are severely retarded."
Completely unfamiliar with WS when Rahel was finally diagnosed at the age of seven, Blecher had difficulty finding experts on it. Despite Rahel's relatively mild case, her regular school was unwilling to keep her on, and she had to be transferred to a special-education school whose teachers were more able to deal with her. "Rahel, like most other WS children, has almost perfect pitch and would thus benefit from a musical education. WSS has founded a music-education fund to help finance lessons for the children. They also have strong linguistic ability. The super-sociability can be moderated but not eliminated, so they have to be watched at all times," explains Blecher. "Rahel reads and writes well, but has quite a lot of difficulty with math and little understanding of the meaning of money." Henrietta Allon, the mother of four children and wife of an artist, gave birth to a WS child four years ago. Neomi was 18 months old when it was diagnosed at the Beilinson Hospital cardiology institute, because she had a heart problem that, fortunately, does not at present require surgical attention. (WS can now be diagnosed in the fetus through amniocentesis.)
"My husband and I are not carriers, so it developed as a spontaneous mutation," says Allon, who is deputy chairman of WSS, which has 26 member families but believes there are over 100 such families around the country.
There is a WS organization and some 20,000 [sic, about 3,000 known] children with the syndrome in the US. "Some of the children in Israel have not been diagnosed, other families have not heard of us, and others know of our self-help group but, because of fear or stigma, don't want to become active." The organization sends out four mailings a year containing information about the syndrome, some of which it receives from the American society. It represents the needs of families before the authorities and voices their needs before the health, education and social welfare agencies. WSS has also established a roof body called Eitan, serving families that cope with children suffering from any of 25 rare syndromes in Israel.
Allon notes: "If you saw Neomi alone, you wouldn't notice anything unusual. But if you saw two WS children side by side, you would see that they look similar." Aside from the pixie face, they tend to have a broad mouth, full lips, small chin and swelling around the eyes. Those that are blue- or green- eyed may have a white "star" in their iris. Typical among WS sufferers is the narrowing of the major artery leading from the heart, called supravalvular aortic stenosis, which often must be remedied with open-heart surgery.
There may also be high levels of calcium in the blood, causing digestive problems. WS children tend to have feeding problems as babies and gain weight slowly. Some have kidney problems and are more likely to suffer from fractures. Their muscle tone may be poor, causing them to walk late. Most WS children have some degree of learning disability and fine-motor problems.
Because of the complexity in diagnosis, there will soon be an interdisciplinary clinic for diagnosing WS, the society announced. The location has not been finalized. This, hope Blecher and Allon, will make it easier for families to reach their organization and speed diagnosis. The earlier the disease is recognized, the better they can cope.
In the US, Blecher notes, many WS children attend regular schools.
