Imagine a disease that strips a child of the routine autonomic and sensory abilities that we take for granted. A disease that affects a child's nervous system to such a degree that he or she cannot feel pain or produce tears, even when seriously wounded. The child becomes plagued with developmental delays, both physical and cognitive, and must be fed through gastric tubes to prevent inhaling food through the windpipe instead of down the esophagus. He or she experiences severe vision problems, breathing episodes, seizures, an absence of taste, cyclical vomiting, unstable blood pressure, fainting spells, excessive sweating, skin blotching and other abnormalities. The child also incurs numerous hospital stays, frequent surgeries and enormous medical bills. Worst of all, the disease statistically guarantees that the child will not live to see his or her preteens.
Familial dysautonomia (FD)is a parent's worst nightmare; a progressive, fatal, neurological and genetically transmitted disease that affects hundreds of Jewish children.
"Life for parents with an FD child is either a heaven or a hell," said Mavis Feinberg, president of the newly formed, locally based Familial Dysautonomia Cure (FD Cure). "It's like being on a grotesque roller coaster where when the child is not in crisis, you feel like you're at the top of the roller coaster. When it's not working, you're at the bottom of the pit, seeing the child suffer."
Those seeking a cure are struggling to get the word out to the Jewish community, because as with higher-profile genetic diseases -- Tay-Sachs, Crohn's and colitis -- the mutated gene that causes this disease is harbored by Ashkenazim -- 1 in 30 Jews of Eastern European Jewish descent are potential carriers. FD is as common as Tay-Sachs disease, and almost as common as the nonfatal Gaucher's disease.
Many are unaware that testing to discern whether a Jewish couple is predisposed to FD is available.
"We have to get the word out," said Dr. Felicia Axelrod, director of Dysautonomia Foundation's (DF) Dysautonomia Treatment and Evaluation Center at New York University Hospital, during a March Los Angeles visit. "We have to do a better job."
DF, which operates on $12 million a year in medical grants, was established by FD parents in 1951, two years after the disease was identified by Drs. Conrad Riley and R.L. Day. With 14 chapters worldwide, the Foundation works with 600 patients. Thirty percent of those afflicted with FD -- formerly Riley-Day syndrome -- reside in New York; another 30 percent in Israel.
"We want FD to become a household term in the Jewish community, like Tay-Sachs," said Anne Rainer, president of DF Southern California, whose son, Ben, and sister-in-law, Judy, both have FD.
DF is one of several organizations scrambling to find a cure. Familial Dysautonomia Hope, Inc. (FD Hope) was founded in 2001 by married family physicians Drs. David and Sonia Peltzer. The Newton, N.C., couple have endured a parental nightmare with the reality that two of their four children, Sammy, 5, and Sarah, 3, possessed FD.
Back in December 2002, a small group of FD Hope supporters -- among them then-Western Region board members Rabbi Morley Feinstein and former Israel Humanitarian Foundation Executive Director Geoffrey Gee -- met in a Tarzana residence to hear the Peltzers recount their agonizing, heartwrenching saga. Particularly frustrating for the couple were the trials of Sammy, who was hospitalized six times and met with 24 specialists before he was properly diagnosed; a common ordeal for FD parents.
"And not one doctor thought of FD," Sonia Peltzer said. "They all knew we were Jewish."
In 2000, the Peltzers enlisted an initially reluctant genetics researcher, Dr. Berish Rubin, now stationed at the biological sciences department at Fordham University in Bronx, N.Y. Rubin quickly became an enthusiastic FD researcher and made a major FD breakthrough in 2001: the isolation of the FD gene.
"I didn't know anything about FD 5 years ago," Rubin said at FD Hope's December meeting. "It has very honestly turned my world upside down. I see these children as my children."
The Peltzers, through FD Hope, want to establish a treatment center.
"We need to keep moving," Sonia Peltzer told roomful of potential donors. "We need help on the research end. We're asking for your help."
At that meeting, FD Hope insisted that they were merely $5 million away from curing this insidious disease.
"Literally, it would fund the research that will find a cure," Peltzer said.
Axelrod, who has assessed children stricken with this disorder at the Dysautonomia Treatment and Evaluation Center since it was founded in 1969, explained that DF, unlike FD Hope, is interested in not only gene approach, but clinical trials.
"They've put all their hope into one area," Axelrod said of FD Hope. "That is interesting. I hope they're successful. Anything that will help the children is welcome, but I don't think science works that way. We really want to acknowledge that it's important to treat patients. Our mission is not over."
Since the December FD Hope Western Region chapter meeting, internal politics led the chapter to break off from FD Hope national and reinvent itself in February as FD Cure, a Los Angeles-based 501(c)(3) nonprofit. Former members of the now-defunct FD Hope Western Region board presently sit on FD Cure's board, and FD Cure is already planning three local events, including a June 29 fundraiser. Rubin, who is among a group of researchers supported by FD Hope, is the singular focus of FD Cure's fundraising.
"He's a dedicated, brilliant researcher," said FD Cure's Feinberg, originally the FD Hope Western Region Board president, "and we feel if we can raise a lot of money, we can get there a lot faster."
"We want to get Dr. Rubin the amount of money he needs to do this job," she said, adding that a cure is between five and seven years away. "He needs $2 million. In terms of research, $2 million is not a lot of money."
"You can't put all of your faith in one laboratory," Axelrod cautioned regarding FD research. "No one can predict how much money it will take and how long it will take. It's very important to realize that at this point, many different technologies have to be looked at."
A conversation with Rubin places the FD carrier rate as closer to 1-in-26 or 1-to-27 than the broadly used 1-in-30 ratio. He told The Journal that a multimillion-dollar contribution would indeed produce a substantial breakthrough in FD treatment; closer to five years than to seven years. He does not want quibble with the $3 million fundraising goal discrepancy between FD Hope and FD Cure.
"The numbers are so hard," Rubin said. "Five million [dollars] will significantly impact the lives of these children. But if someone walked up the lab and said here's $2 million, I think it's achievable." Rubin also confirmed that such a donation has not happened yet, and that his laboratory has been working off of sporadic grants and contributions.
However, Rubin is reluctant to bandy around the word "cure."
"I have used the word 'cure' inappropriately before," Rubin said. "It's not a cure, because it would mean the complete eradication of all complications associated with FD. That's not going to happen. It's to have them lead more productive lives."
He clarifies that "the life-threatening crises that the children undergo should be definitely treatable. It's an interesting genetic disease in that it can be manipulated, and we're trying to find how best to manipulate the system so that the children make the protein they are lacking."
While Rubin knows that a major boost in research dollars will equal a major advance in conquering FD, he cannot guarantee comprehensive success.
"Science is so unpredictable," Rubin said.
Some might wonder if there is too much organizational competition in a field where the cure of this genetic killer is urgent.
"There is a problem with orientation in what they're looking for," Feinberg said. "Each group is looking for something completely different."
Downplaying any competition between FD labs, Rubin pointed out that his 2001 findings of the FD gene and similar findings made by the Foundation were published in scientific journals within a week of each other. The important thing to realize, Rubin observed, was that "both groups got to the same point. The medical community as a whole benefits because when two groups from different laboratories come to the same conclusion, that's a confirmation of the findings."
"There are a lot of areas of research that are worth pursuing," Rubin continued. "Many of them are not overlapping with what we're doing [i.e. clinical treatment of FD -- a Foundation specialty]. There's so much to be done and too few people working on it."
Different approaches notwithstanding, all FD organizations are singular in their intent to rid the earth of this damaging, deadly disease. And while results in the battle against FD have been slow, they have been forthcoming.
"We've been able to raise the life-expectancy rates," said David Brenner, a DF national board vice president .
"When I first started, there was little known on this disorder. Fifty percent of the children died by the age of 5," Axelrod said.
Compared to statistics prior to 1982, patient longevity has improved dramatically.
"We were able to see the impact of our treatment," Axelrod said, adding that now 40 percent of patients treated live over 20 years of age.
The 2001 discovery of the gene has inflated hopes of curing FD with people such as Axelrod because of what is now known about the nature of this disease.
"It's almost the antithesis of cancer," she said, breaking the paradigm down into layman terms. "The gene is not dead or missing, it's just not functioning. This is wonderful because we can manipulate it."
For the time being, awareness of FD is crucial.
"This is a time bomb," Feinberg said. "These patients are dying, most of them, in childhood. A lot of them are misdiagnosed. It's crucial that a lot of people give a lot of money. People have to get off this political track and get onto the track that these children need our help."
The current mission, as DF's Brenner articulated, is to "inform the public of the necessity of prenatal testing."
And the Peltzers stress how easy it is for couples of Ashkenazic heritage to learn if they are prone to FD.
"You can be tested tomorrow to see if you're have the genetic [predisposition] for this and 10 other mutation disorders," Peltzer said.
Rainer wants "to help prevent future generations from having to deal with this disease as well as helping to identify undiagnosed or misdiagnosed children that are in our Jewish community today."
Word is getting out there. The first Sunday in June is FD Day in New York City, where patients and their families fly in from all over the world to participate in the DF-sponsored event. During this annual gathering, Axelrod updates the FD community on progress in research and runs workshops. Over Oct. 3-4, 2002 the National Institute of Health (NIH) held the very first conference on FD and other dysautonomias at the Doubletree Conference Center in Rockville, Md.
"The work on the horizon is a very encouraging thing," said Dr. Alan Guttmacher, deputy director of the National Human Genome Research Institute of the NIH. "The focus on FD will being results soon, and also an understanding of aspects of the disease. The solutions are coming."
At the December FD Hope gathering, Rabbi Mark Diamond, vice president of the Board of Rabbis of Southern California, vowed to help "get the word out to every synagogue newsletter" and to dispatch FD speakers to area congregations.
A March DF gathering in Tarzana attracted a cross section of Jewish Los Angeles, including the Bureau of Jewish Education's Dr. Kenneth Schaefler, director of special education and psychological services, and Esther Elfenbaum, director of early childhood services; Sally Weber, director of Jewish community programs, and Dr. Amy Gross, director of counseling of Jewish Family Service; Barbara Luftman of the Tay-Sachs Organization; Dawn Reiner and Norma Freeman of Stephen S. Wise Elementary School; Wilshire Boulevard Temple's Susan Tivoli; and Valley Beth Shalom's preschool director Audrey Freedman-Habush.
Despite the hardships of raising FD children, the Peltzers remain optimistic that a cure will be found soon.
"We had Sarah and Sammy for a reason," Sonia Peltzer said. "They touch so many people's lives."
For now, the race to get the word out, and the hope for a cure, continues.
"Time is our worst enemy," Rubin said.
For more information on genetic testing and treatment of Familial Dysautonomia, contact the national Dysautonomia Foundation (DF) at (212) 949-6644; visit the DF Web site at www.familialdysautonomia.org or e-mail DYS212@aol.com . Locally, contact Anne Rainer at the DF's Southern California Chapter at (818) 345-0354. FD genetic testing and education materials are available through the chapter for distribution.
For information on Familial Dysautonomia Hope, Inc., call (828) 466-1678; visit www.fdvillage.org .
Familial Dysautonomia Cure (FD Cure) will hold a brunch fundraiser honoring the vice president of the board of directors Geoffrey Gee, with entertainment by singer Brian White, at University Synagogue in Brentwood on June 29 at 10:30 a.m. For information, contact Mavis Feinberg at (310) 459-1056.
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