March 25, 2005/Adar II 14 5765, Volume 57, No. 30
Empty pages speak of tragic lossGenetic disease screening set for April 3
VICKI CABOT
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 Carol Lee Anatole celebrates her first birthday with her mother and brother, Michael. Photo courtesy of Phyllis Anatole |
Only this album is just half filled; it begins with a photo of Carol Lee Anatole as a newborn in March 1959 and ends with pictures taken some 16 months later on a family trip to the Grand Canyon. The rest of the pages are empty.
Carol Lee died at 20 months, a victim of Tay-Sachs disease, a fatal disorder that is transmitted genetically and is most predominant among Ashkenazic Jews. It is the most common of the so-called Jewish genetic diseases, a grouping of nine illnesses that occur more frequently in families of Eastern European Jewish descent. There is no cure, no treatment, and most children born with Tay-Sachs die before age 5.
Today, a simple blood test can determine if couples are carriers of Tay-Sachs and the other genetic diseases, but there were no such tests available when Phyllis and Ron Anatole were planning their family. They have two other children, a son, Michael, who is married, and the father of two healthy children, and a daughter, Ellen. Both Michael and Ellen are carriers; Michael's wife is not.
The Anatoles shared the photos and their story with Jewish News to encourage community members to take advantage of the April 3 genetic disease screening sponsored by the Greater Phoenix Genetic Diseases Project. They would be heartened if they could "help even one other family and save them from the tragedy we experienced," they say.
Carol Lee developed "beautifully" until she was 6 months of age, recalls Ron Anatole.
"She was holding her head up, turning over," says Phyllis Anatole. "Then she stopped."
Doctors puzzled over the regression.
"You never want to think that something is wrong," says Phyllis Anatole.
Carol Lee gradually lost all the developmental milestones she had achieved, became blind, had difficulty swallowing and suffered from petit mal seizures.
"She never walked, never crawled," says Phyllis Anatole quietly. Loud noises, even a touch, could cause a seizure. Then 5-year-old Michael had to be cautioned to play quietly and not disturb his baby sister.
At 13 months, local doctors referred the Anatoles to Los Angeles Children's Hospital. It was there a physician detected the telltale cherry red spot on Carol Lee's retina that was a sign of optic nerve deterioration and a Tay-Sachs indicator. And it was there that they were told that the disease was fatal.
Carol Lee died seven months later when hospitalized at Crippled Children's Hospital, waiting for a bed to become available at City of Hope in Los Angeles.
In her last hours, recalls Phyllis Anatole, she could just sit by her baby's side.
"I couldn't hold her, walk her. I could just gently smooth her hands."
Dr. Kirk Aleck, head of clinical genetics at St. Joseph's Hospital in Phoenix, and a member of the genetics disease project, says that the incidence of Tay-Sachs has "dropped dramatically" in recent years and attributes the decline to enhanced screening for the disease.
The test has a 98 percent carrier detection rate. If both parents are carriers, there is a one in four chance in every pregnancy of having a Tay-Sachs baby. Or, in other words, there is a 25 percent likelihood that each child will have the disease and a 50 percent likelihood that a child will be a carrier.
The local screening, the first since the mid-1970s when the Anatoles first pioneered the effort, is targeting Ashkenazic Jews between ages 18-45.
The testing is preventive, says Aleck, allowing couples to find out if they are at risk.
"Then they can make the reproductive decisions best for them and their family," he says.
The range of reproductive options include choosing not to have children, choosing to fertilize eggs in vitro and then selecting those embryos that are not affected, becoming pregnant and then testing the embryo in either the first or second trimester and considering terminating the pregnancy if the disease is detected, or choosing to do nothing.
Testing early is critical to allow couples and individuals to make the decisions that are right for them.
"The problem is that it takes a lot of money and a lot of foresight," says Aleck. The cost can exceed $1,000 for each partner.
The screening effort, spearheaded by Sherman and Andi Minkoff, provides the blood test at a cost of $36 for those of reproductive age; testing is available for those over age 45 at a cost of $250. Additional carrier testing for the other five Jewish genetic diseases - Bloom Syndrome, Fanconi Anemia, Gaucher Disease, Mucolipidosis and Niemann-Pick Disease - will also be available at reduced costs. The screening is being done by Genzyme Genetics.
Aleck says the particular disease panel was chosen because the four diseases are all severe children's disorders and recessive conditions, where both parents have to be carriers.
"It was a tough choice to decide what to test for," says Aleck, noting that budgetary constraints were a consideration.
Funding for the program was provided by grants from the Jewish Community Foundation, St. Jo-seph's Hospital and individual gifts. The Council for Jews with Special Needs has spearheaded the effort since its inception, and Jewish Family & Children's Service has played a key role in administering the project. Other collaborating agencies include the Deutsch Family Shalom Center at Temple Chai.
Marvin Arnstein, who lost two daughters to another of the four diseases included in the April 3 panel, familial dysautonomia (FD), tells a story similar to the Anatoles. He and his late wife, Shirley, did not know what was wrong with their daughter Ellen Gail, when she was born in 1951.
"Early on we picked up that something was not right. She never developed, never turned over," he says. She died (at age 15 months) without a diagnosis.
Lois Ruth, their third child, was born seven weeks later, and the Arnsteins soon began to detect similar frightening symptoms. FD is a genetically transmitted disease that affects the body's automatic functions including heart rate, breathing and swallowing.
But Lois lived until just short of her 30th birthday, a fairly common life expectancy for FD patients, earning an associate's degree at Phoenix College and marrying.
"She was a total joy," Arnstein says of Lois Ruth. He and his wife had two healthy children, a son David, who lives in Israel with his wife and two children, and a daughter Susie and grandson, Jared, here. None of them are afflicted with the condition.
Arnstein notes that ironically, he and his wife were tested for Tay-Sachs but not for FD.
He is insistent on the importance of testing.
Jen Schwarz, whose cousin has a child with Canavan Disease, another of the illnesses the project will screen, is equally adamant. She has worked as a member of the genetic disease project since its inception.
Schwarz was tested before she became pregnant with her first child.
"I had seen the devastating effects of this disease in my family," says Schwarz. Jacob Sontag, now age 9, requires care 24 hours a day.
"He can't walk, can't hold his head up, can't communicate other than through facial expressions," says Schwarz sadly.
Jacob's mother, Jordana Holovach, has become an ardent advocate for victims of the disease, lobbying tirelessly for federal funding and raising private contributions for Canavan research through the nonprofit Jacob's Cure organization.
Canavan is a degenerative disease, much like Tay-Sachs, that is caused by an enzyme deficiency and results in gradual deterioration and premature death.
Schwarz says that when she initially sought genetic testing a few years ago, she found a lack of awareness in both the medical and the Jewish communities.
"It wasn't a priority," she says.
In the mid-1970s, the Anatoles worked with two local physicians, the late Jay Cooper, an obstetrician/gynecologist, and Gerald Golner, a pediatrician, to raise consciousness and promote testing. A cadre of volunteers organized two screening programs, and the Anatoles provided a Tay-Sachs hotline out of their home.
"We had a marvelous turnout," says Phyllis Anatole of the screenings. She later went on to work with a genetics center here, overseeing their resource library, first as a volunteer and later as a paid employee.
Andi Minkoff says that she first became aware of the risk of Jewish genetic diseases through the Anatoles.
She credits the couple with undertaking a "labor of love," but notes that communal interest and support could not be sustained. She and her husband began thinking about revitalizing the effort several years ago.
"Around the country, people were doing it," says Andi Minkoff. "We felt there was a void here."
They assessed interest, meeting with representatives from local agencies and other interested individuals.
The first phase of the genetic disease project was an education and awareness effort in September 2002 aimed at local physicians and rabbis. With a $2,500 grant from the Jewish Women's Endowment Fund, secured by CJSN, a letter and accompanying educational materials were mailed to local physicians and clergy. A follow-up survey elicited little response, indicating the need for more intensive efforts.
"The sadly modest response indicated that there was a need to educate the public that genetic diseases are out there," says Becca Hornstein, CJSN executive director.
The project organizers then began to focus on phase two, organizing a local screening.
The April 3 event will include a panel discussion with Aleck; Ann Bogle, a certified genetic counselor; and Professor Joel Gereboff, who will speak on Jewish ethical considerations.
Each person to be tested will then have the opportunity to meet with one of four genetic counselors and then have blood drawn by one of the four phlebotomists.
The testing is confidential.
Schwarz and her husband, Steve, who have both been tested, have three healthy children, Max, almost 5, Kori, 2, and just-born Emma. She says that she is dismayed that many of her contemporaries have resisted being tested.
She feels that if doctors and rabbis were more proactive, more couples would be screened. Rabbis could incorporate information about the risk of Jewish genetic diseases in premarital counseling sessions.
The Anatoles agree, emphasizing that early testing is critical.
"They think it is not going to happen to me," says Schwarz of her contemporaries who shy away from the disturbing possibility.
Nina Feinzig has cystic fibrosis (CF), another of the diseases targeted in the upcoming screening. Now 32, she is awaiting a double lung transplant, as the disease takes its toll.
Cystic fibrosis is a genetic disorder that causes the body to produce excessive mucus, particularly in the lungs. It impedes respiratory function and digestion and impacts other bodily systems.
Feinzig credits her good health to her parents, the late Michael and Joy Feinzig, who resolved that their daughter, diagnosed at an early age with CF, would lead as normal a life as possible.
"My parents were told that there is no cure - and there still is no cure - but there were ways to make my life healthier," says Feinzig.
Modern medications could help with digestion and nutrition, daily pounding on the back could loosen mucus in the chest and other drugs could help with respiration.
Feinzig graduated from Shadow Mountain High School in 1991, active in BBYO and a host of other school activities. She received a bachelor's degree in fine arts and photography from the University of Arizona in 1997, where she was active in her sorority.
Her health began to deteriorate her senior year in college. She was hospitalized for the first time and was put on intravenous antibiotics to fend off the bacterial infections that are common in CF patients.
She returned to U of A for her last semester with a nebulizer to administer breathing treatments and new medications.
She has been hospitalized several times since then, her health declining after the premature deaths of her parents within months of each other in 2000. Her maternal grandfather is part of her support network as are friends and congregants from Temple Chai, where her parents were founding members.
"I try to make the most of every day," says Feinzig. "There is no other way to look at it."
Feinzig, who works as a pharmacy technician, has been on a waiting list for the lung transplant at the University of California San Diego Medical Center since November 2002.
Most CF patients do not live past their mid-30s; Feinzig is hopeful that the transplant will be successful and extend her life.
She looks forward to marrying and having children one day.
"I am a carrier because I have CF," she says simply, noting that if her husband is also a carrier, there is a 50 percent chance that they will have a CF child.
Testing is critical.
"You need to know your future," she says. "You don't want it to happen to you, but you need to know so you are able to make choices."
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Details
- What: Genetic disease education and screening event
- Who: Greater Phoenix Genetic Diseases Project
- When: 9:15 a.m.-2 p.m. Sunday, April 3
- Where: Ina Levine Jewish Community Campus, 12701 N. Scottsdale Road, Scottsdale
- Cost: $36, ages 18-45 for four-panel test; $250, over age 45; additional fee for additional testing
- Call: Kathy Rood, 602-452-4627