Leah Rubino of Monroe Township walked around the room at the East Brunswick Jewish Center (EBJC) showing photos of her two young nephews, lying together, looking like any other two happy babies. However, the brothers, Josh, 10 months old, and Benny, almost two years, are not like most children their age.
Because they suffer from Canavan disease, a progressive, fatal neurological disorder most commonly found in Ashkenazi Jews, neither is able to crawl, sit, stand, or talk. They will eventually lose their ability to swallow and to see, and — unless a cure is found — they are unlikely to live past age 10.
Canavan is one of a host of genetic diseases more pronounced in Ashkenazi Jews than in the rest of the population. While there is no cure, genetic testing can determine if potential parents are carriers.
Rubino’s sister, Jennie Rosenblum of Brooklyn, had a screening panel done during her first marriage before she had her older son, now 8 years old and disease-free. Because Rosenblum was told she tested negative as a carrier for all Jewish genetic diseases, she thought it unnecessary to be retested when she married her current husband, Gary Landsman; both parents need to be carriers for a child to be afflicted.
The family has since learned that Rosenblum was actually not screened for several major Ashkenazi diseases, including Canavan, when she was first tested. The error was compounded, Rubino said, when no medical personnel who viewed the file over the years noticed the oversight.
She told Rosenblum’s story May 15 during a program sponsored by EBJC focusing on the importance of and advances in genetic screening. Featured speakers were Elena Ashkinadze, senior genetic counselor at Rutgers University’s Robert Wood Johnson Medical School in New Brunswick, and Sherry Grumet, oncology genetic counselor at the cancer risk assessment program at Monmouth Medical Center in Long Branch.
Both counselors said they urge every couple considering having children to undergo genetic screening to determine if they are both carriers of any of the many thousands of genetic diseases.
Ashkinadze told the gathering that while working in pediatric genetics she watched “beautiful babies” be born who would soon begin to suffer “devastating” symptoms like seizures and loss of body functions before dying of Tay-Sachs, another genetic disease significantly more pronounced among Ashkenazi Jews.
If both parents are carriers of a genetic disease, said Ashkinadze, each child they conceive will have a 25 percent chance of having that disease. So, while “most babies will be born perfectly healthy,” she asked, “why take a chance?”
She said most health insurance carriers will cover the cost of screening, but those not covered should know that competition has driven down costs in recent years. “I can get you a great screen for $99,” Ashkinadze said.
Too often couples come in for screening when they are already expecting a child, Ashkinadze said. At that stage, if testing shows the fetus has Tay-Sachs, Canavan, or Gaucher, another of the more than 30 primarily Jewish genetic diseases, options are limited. “It is a painful dilemma,” she said. “Most couples choose to terminate the pregnancy.”
However, if the couple learns beforehand that both partners are carriers, they can still have a baby through in-vitro fertilization using their own eggs and sperm; fertilized eggs are tested, and only those shown to be healthy are implanted, Ashkinadze said.
She said the word seems to be getting out in the community. “Just today I saw a young lady who is engaged and came in because her rabbi in Highland Park told her to go get genetic testing.”
Grumet spoke of the genetic proclivity among Ashkenazi Jewish women for a BRCA gene mutation that indicates an increased risk for developing breast, fallopian tube, and ovarian cancer. A warning sign, she said, is having a mother, sister, or aunt who developed the disease at a young age.
“If someone tells me their mom died at 37” from breast cancer, Grumet said, “it’s an immediate red flag” that there is a likelihood of the daughter being a carrier.
Ashkenazi Jews are also at increased risk for developing male breast cancer and pancreatic, prostate, melanoma, and other cancers because of gene mutations, Grumet said.
While a BRCA mutation is rare in the general population, one in 40 Ashkenazim carry it, and of those, up to 85 percent will develop breast cancer.
“Eleven percent of all breast cancer in Ashkenazi Jews is BRCA-related,” said Grumet, adding, “Why wouldn’t you want to know if you have the BRCA mutation?”
BRCA-related breast cancer also tends to be more lethal and difficult to treat than other forms. Ovarian cancer is particularly insidious because, although highly treatable in its early stages, it is often asymptomatic until it is advanced; at that stage, said Grumet, survival rates are low.
For those who have the BRCA mutation, Grumet said, mammograms and breast MRIs start for these women as early as their late 20s, said Grumet. Some women choose to have breasts and ovaries removed prophylactically to head off the cancer, she said.
Rubino said in her nephews’ case, family members began to notice things were not right when Benny was about six months old, but several doctors told them the baby was normal. Finally, they had him evaluated by a third neurologist when Jennie was pregnant with Josh.
Rubino said her sister had an ominous feeling when she received a call telling her to come into Manhattan immediately without an appointment and bring Josh, then just 2 weeks old, with her. The brothers require significant amounts of care, including physical and occupational therapy and feeding, around the clock.
“Can you imagine being told that both your children have Canavan — and by the way, they’re both going to die?’ asked Rubino.
To help with expenses and help fund research into Canavan, Rosenblum has started a crowd-sharing page (gofundme.com/savebennyandjosh), which, as of June 5, has raised $1,147,260 toward its $1.5 million goal, administered through Rechav Lev, Inc., a Brooklyn-based nonprofit.