Knowledge is crucial
(Editor’s note: This is the first in a four-part series about raising awareness of Ashkenazi genetic diseases.)
Jeanne Rogal was diagnosed with Gaucher disease in 1966 at the age of 3. Growing up, she struggled with its symptoms, including bone pain, anemia and an enlarged spleen.
By the time she was in junior high school, Jeanne looked “seriously pregnant,” her spleen having enlarged from the size of a fist to the size of a football, her mother Barbara Rogal, recalled.
Jeanne had her spleen removed in 10th grade. She joined band camp, but the pain in her bones was so severe that she never marched. She had her hip replaced three times.
In 1991, a treatment became available for Gaucher. Although now, at age 47, she has found ways to live with the disease, Jeanne’s medications cost about $500,000 a year, and she still tires easily and suffers from pain.
Gaucher is one of 18 identified genetic diseases prevalent among Ashkenazi Jews. None is curable. Some are terminal, while others cause discomfort and pain throughout their victims’ lives.
These diseases are unwittingly passed on to the children of parents who are both recessive carriers of the disease genes. A recessive carrier shows no symptoms of the disease. The only ways to know for sure whether one is a carrier of any of these diseases is to be screened for those genes or to have a baby who is stricken with disease.
Back in the 1960s, Barbara and her husband, Jay Rogal, did not have the option to be screened before their daughter was conceived, and are now advocating that all Ashkenazi Jews do so as part of their family planning.
“Of course, it’s better to have this information in your hands at a time when you can do something about it,” said Nancy Zionts, chief program officer at the Jewish Healthcare Foundation, one of the partners in a widespread community initiative to get the word out on the importance of these screenings, to provide subsidized screenings for 950 young people over the course of the next three years, and to make a push for health insurers to cover the costs of these screenings, which run about $4,000 a person.
One in five Ashkenazi Jews is a carrier for at least one of the 18 identified diseases: Gaucher; Cystic Fibrosis; Tay-Sachs; Familial Dysautonomia; Canavan Disease; Niemann-Pick (Type A); Fanconi Anemia (Group C); Mucolipidosis IV; Bloom Syndrome; Dihydrolipoamide Ddehydrogenase Deficiency; Familial Hyperinsulinism; Joubert syndrome; Nemaline myopathy; Spinal Muscular Atrophy; Usher Syndrome Type 1F; Usher Syndrome Type III; Glycogen Storage Disease, Type 1A and; Maple Syrup Urine Disease.
The “One in Five” campaign is funded by a three-year grant to Hillel Jewish University Center. Contributors to the grant are the JHF, the Highmark Foundation, Genzyme, the Fine Foundation and the Jewish Federation of Greater Pittsburgh, according to Dodie Roskies, project developer.
Roskies, who has worked on the initiative for about two years, was tapped to head it after the Rogals came to the JHF seeking help in their crusade to raise awareness.
“There are two problems, here,” Roskies said. “First, people are not educated about these diseases. Second, they are too expensive [when not covered by insurance].”
Much of the initiative is about convincing insurance companies to cover the screenings, showing them that preventative screenings are more cost effective than paying the medical bills of people afflicted by these diseases, Barbara Rogal said.
“We’re trying to figure out a systemic fix,” said Zionts. “A large component of this grant is about policy change.”
But most of the grant money will go to fund the free screenings, according to Roskies.
“Our goal is to screen as many people as our funds will allow,” she said. “Right now, we have funding to screen 200 people in year one, 300 people in year two, and 450 people in year three. But, if through knowledge of the screenings, more money comes in, we will do more screenings.”
While screenings are expensive, the One in Five campaign will be getting them done at a reduced rate through a partnership with the Victor Centers for Jewish Genetic Diseases, based in Philadelphia.
The identified 18 diseases are disproportionately present in the Ashkenazi Jewish population because of something called the “founder effect.”
“The Ashkenazi were originally a small population that expanded to a larger population,” said Dr. David Finegold, professor of pediatrics and human genetics at the University of Pittsburgh, who is assisting with the One in Five project. “Any population which starts small and gets big is unduly affected by deleterious genetic mutations.”
Other populations prone to genetic diseases because of the “founder effect” include the Mennonites and the Amish, Finegold added.
Knowledge is crucial in preventing the proliferation of these diseases. If young couples discover through screening that they are genetic disease carriers, they then can make informed decisions in family planning. Options for those couples would include adoption and in vitro fertilization, wherein a diseased embryo would not be implanted.
Education of the community has already begun. Roskies has spoken to area rabbis, urging them to spread the word to their congregants.
“We’re bringing the information to couples who are getting married,” said Rabbi Aaron Bisno of Rodef Shalom Congregation. “For many couples, this may be something they never thought about. From a Jewish perspective, it’s important to get this information to these couples. In a community with a defined gene pool, we know the risks [of genetic disease] are elevated.”
Equally important to getting the word out on the importance of screenings, is making those screenings accessible and affordable to everyone in the community, said Rabbi Alex Greenbaum, of Beth El Congregation of the South Hills.
“We need to raise funds to make these screenings possible,” Greenbaum said. “We need to talk to our insurance companies and get this covered. We’re living in a day and age where the reason G-d hasn’t stepped in is because he’s given us the tools to make this world a better place. With these screenings, we have the tools to eliminate these diseases, we just need to find a way to make the screenings accessible.”
The first free screening funded by the One in Five grant will be held at the Hillel JUC Wednesday, Oct. 13, for anyone in the Ashkenazi Jewish community between the ages of 18 and 29. Whereas some Jewish communities, such as Chicago’s, concentrates its screenings on older people, those in their early 30s for whom pregnancy may be a more immediate concern, the young adults on campus and who participate in J-Burgh are the perfect demographic, according to Linda Meyers, associate director of Hillel JUC.
“This is the population that’s not thinking about it,” she said, “and we want them to think about it.”
Pamphlets are already being distributed on the campuses, and Jewish studies classes are being visited, as are Jewish sororities and fraternities. A question and answer session with Finegold and genetic counselor Katie Long was held on the Carnegie Mellon University campus earlier this week, and a similar session will be held Monday, Sept. 20, 6 p.m. at the University of Pittsburgh’s William Pitt Union.
“Most students are confused as to why this is applicable to them at age 20,” said Brooke Heyman, student chair of the screening project. “But once we explain that these screenings are expensive, and this is information they may want to have in the future, and that this screening is free, they understand. We already have more than 60 students registered.”
(Next week: Genetic diseases, ethics and the evolving technology of screening.)
(Toby Tabachnick can be reached at firstname.lastname@example.org.)