January 24, 2002
No News Is Bad News
A preventable, deadly Jewish disorder remains a veritable secret within the Jewish community.
The Los Angeles Jewish community is harboring a deadly secret.
Thousands of Jews in Southern California, among hundreds of thousands worldwide, carry the gene for a fatal disease that's as prevalent as Tay-Sachs and just as devastating, but local Jewish leaders have failed to let the public know that the disorder exists -- and is now preventable.
One in 30 Ashkenazi Jews carries a genetic mutation responsible for familial dysautonomia (FD), a disorder of the autonomic and sensory nervous systems. It interferes with the body's ability to regulate itself and its processes; symptoms include inability to feel pain or temperature sensations, wild fluctuations in blood pressure and body temperature, and trouble with chewing, swallowing and digesting food.
Children with FD typically experience developmental delays, physical or cognitive, of varying severity. Their eyes don't produce tears, and some are at such risk for eye damage that they have to wear protective goggles. Many are fed through gastric tubes implanted in their stomachs to keep them from inhaling the food and liquid they don't have the coordination to send down the esophagus instead of the windpipe. Any kind of microbe or emotional upset can throw a child into a "crisis" that necessitates a race to the hospital.
Early death, most commonly in one's 20s, is generally caused by cardiac problems such as heart arrhythmia or a stroke caused by a sudden spike in blood pressure; renal failure, when constant fluctuations in blood pressure are too much for a young person's kidneys; or pneumonia caused by aspiration of food and drink into the lungs.
FD children are also at high risk for accidents. "They don't seem to have a good sense of where they are in space," said Sonia Peltzer, a physician with two FD children who is president of FD Hope, Inc., an organization devoted to raising awareness of the disease, raising money to support research, and creating a support network for affected families.
The disease becomes the focus of every household with an affected child. Mavis Feinberg, a Pacific Palisades resident whose grandson has FD, said of her daughter and son-in-law, "Their whole life has become caring for their son, because FD is so invasive in so many areas of their lives. It has a horrible impact on a family."
In a video produced by FD Hope, smiling, gap-toothed 9-year-old Andrew Slaw is shown playing outdoors like any other kid. He's in fourth grade in suburban Chicago, with no lag in mental abilities and no insurmountable problems with motor skills. But during the past five years, Andrew has been rushed to the hospital "in crisis" some 20 times, sweating and retching, his blood pressure and heart rate dangerously high. When a crisis occurs, "he looks like he wants to crawl out of his skin," said Andrew's mother, Ann.
When healthy children catch cold or get upset, their systems are able to regulate themselves, but anything that has an inflammatory effect on the body overloads an FD child's autonomic system. The GI tract shuts down, making it difficult to give a child nourishment and liquids. The subsequent drop in blood sugar or electrolyte imbalance can cause a child to go into seizure.
"We knew Andrew had difficulties from birth," said Ken Slaw, Andrew's father and FD Hope's vice president: Andrew coughed and gagged when he was fed and didn't gain weight as a baby. He had poor muscle tone and balance, although, his father said, "Andrew sometimes found genius ways of compensating for his difficulties." They finally took him to a neurologist when he was 4, after Ken accidentally slammed Andrew's fingers in a door -- and Andrew didn't feel any pain.
Although Andrew can handle food by mouth, he eventually received a gastric tube so that his parents and medical personnel can get nutrition and liquids into him when he's in crisis. Peltzer's daughter Sarah, 3, on the other hand, had a gastric tube implanted shortly after her diagnosis at two months of age and receives all her food and liquids through it.
Children who receive all their nutrition through "g-tubes" are given formulas such as Ensure or Pedialyte, blended foods like milk shakes, and pureed vegetables and fruits, Peltzer said. The kids with the most severe feeding problems lack the coordination to chew and swallow. "It's like having a mouth full of Novocain," she said.
With the family consumed by day-to-day care and medical emergencies, unaffected children in the family grow up fast. Ann Slaw said their daughter, Emily, 7, "often speaks like she's 47." While Emily is sometimes "displaced" by Andrew's illness, she added, "We try to make sure her needs are met."
Ann Slaw thinks living with a sick brother has made Emily "a more compassionate and insightful person." Similarly, Sonia Peltzer says her two older children, ages 6 and 8, who do not have FD, have become "sensitive to issues I don't think they would have been sensitive to otherwise. They're going to become really neat people."
First reported in 1949, FD occurs when a child receives a chromosome bearing the genetic mutation causing FD from each of his or her parents. When each parent is a carrier of the gene, there's a one-in-four chance a pregnancy will result in a child with FD; children who inherit the gene from just one parent don't have FD but are carriers themselves.
The mutation developed exclusively within the Ashkenazi Jewish community and is one of several diseases associated with that population. The two most devastating Jewish genetic diseases besides FD that occur frequently are Tay-Sachs, a metabolic disorder that attacks the central nervous system, and Canavan disease, which causes degeneration of the brain from earliest childhood. The most common is Gaucher's disease, carried by one in every 12 Ashkenazi Jews, in which an enzyme deficiency typically causes orthopedic problems and blood abnormalities.
Although the Sephardi community is not as well studied as Ashkenazi Jews, researchers recently discovered the gene mutation for a disease called hereditary inclusive body myopathy, a progressive muscle disorder affecting Middle Eastern Jews in their 20s and 30s.
An enormous breakthrough in FD research came just a year ago, when scientists at Fordham University in New York isolated the genetic mutation that causes the disease. That made it possible for people to be screened for the FD gene, the way many prospective parents of Ashkenazi background get tested for Tay-Sachs. Labs in Israel, New York, Houston, and here in Los Angeles are set up to test people for FD.
The discovery of the gene threw into high gear the efforts of those close to the disease to publicize it. "The Jewish community in general has to jump on the Jewish genetic disease bandwagon and push public education and testing," said Michael Rancer, a library administrator at UC Berkeley and a member of FD Hope's board of directors whose son, David, died of FD last May at age 11.
Rancer is trying to get his local Federation involved in a joint program with UC San Francisco Medical Center to provide testing and encourage Bay Area Jews to get tested, and he said that the Jewish Federation of Metropolitan Chicago has a "model program" publicizing the prevalence of the FD gene.
At present, there are about 350 youngsters with FD worldwide, but a one in 30 occurrence of the mutation means there are upwards of 20,000 carriers in the greater Los Angeles area.
However, Mavis Feinberg said, Jewish leaders in Los Angeles haven't seemed interested in getting the word out about FD; she said she hasn't had a response to queries she's made to Jewish organizations and half a dozen rabbis. "I don't think people realize how neglected, ignored, and shunned this Jewish disease is," she told The Journal, adding that one rabbi said to her, "I don't want to bring it up because I don't want to upset my congregation."
Dalia Laitin, a genetic counselor at University Children's Genetics Lab, affiliated with Childrens Hospital in Los Angeles, said that the local Orthodox community is concerned enough about Jewish genetic diseases to offer routine screening to teenagers at Los Angeles yeshivot, but non-Orthodox synagogues don't seem motivated to spread the word.
When her lab came up with a panel screening for Jewish genetic diseases about a year and a half ago, allowing people to be tested for several disorders at once, Laitin said she tried getting congregations to publicize the program without success. "I contacted several non-Orthodox synagogues, but they were either busy or not interested in publicizing this program to their congregations," she told The Journal.
Along with testing, those involved in the fight against FD work hard to raise money for research, pointing out that research on this disease has implications for people suffering from other forms of dysautonomia, including Parkinson's disease, autism, panic disorders, and autonomic problems caused by diabetes and high blood pressure.
"Because of the small number of identified individuals with this disease, there is little government support for research," said Sondra Mallow, a Jacksonville, Fla., mother of three FD children. But, she says, "we have hope ... that we all live to see the day the disease is eradicated."
Michael Rancer has hope, too, but his is tinged with the knowledge that their cause has a long way to go. "We are years away from a cure," he said. "Although our goal is to make [David] the last child to die from FD, we know that's not realistic."
For more information about familial dysautonomia, log on to www.fdvillage.org, e-mail email@example.com, or call Mavis Feinberg of FD Hope at (310) 459-1056. For more information about the spectrum of Jewish genetic diseases, see the Web site for the National Foundation for Jewish Genetic Diseases, www.nfjgd.org . To find out how to get tested for familial dysautonomia and other genetic diseases, call University Children's Genetics Lab at (323) 669-2271.