For Mother, Nowhere to Turn for Advice on Genetic Diseases
Tuesday, June 01, 2010
Cynthia Stern didn’t know where to turn.
Pregnant with her second child, she worried her unborn daughter would be afflicted with the same disease that was killing her one-year-old son. “I panicked,” the Barrington mother said. “I called everybody because I didn’t know what to do.”
The disease, known as Tay-Sachs, is an enzyme deficiency that causes fat to build up on brain cells, leading to paralysis, and eventually death. As Ashkenazi Jews, Stern and her husband were more likely to be carriers for Tay-Sachs, but both parents needed to have the gene for their children to get the disease.
GET THE LATEST BREAKING NEWS HERE -- SIGN UP FOR GOLOCAL FREE DAILY EBLASTThe lab at Miriam Hospital in Providence said only Stern was a carrier. But there was a mistake on the test, and, at the age of 1, their son Max was diagnosed with the disease.
When she found out she was pregnant again, Stern underwent three tests, all confirming that her daughter did not have Tay-Sachs.
Stern wishes she and her husband had someone to talk to—besides a doctor or a lab technician—about the chances that they could pass the disease on to their children. “I don’t know if people realize when you’re going in for that test how that can change and affect your life and those around you forever, so it’s important to have someone who is trained and well-versed,” Stern said.
In medicine, genetic counselors fill that role, but in Rhode Island, as with most states, the profession is unregulated.
A bill that is coming before the Rhode Island House for a vote today would change that.
The law would require that genetic counselors get licensed through the state, ensuring they have the same level of education and credentials, and meet the common standards of practice.
The Rhode Island Senate has already passed the bill. If it becomes law, Rhode Island would become just the seventh state to regulate genetic counseling. California, Illinois, Oklahoma, Tennessee, Utah, and Massachusetts already regulate genetic counseling.
In the absence of a genetic counselor, Stern leaned on the advice of a local doctor, who recommended that she go through with the pregnancy. The doctor told her that a healthy life would be a good thing for a house filled with so much sadness, Stern recalled.
Stern gave birth to her daughter on Sept. 14, 1998. She named her “Zoe,” which is from the Greek word for “life.”
Her son Max died about two months later, on Nov. 28, just one week shy of his second birthday.
Despite two short years that were filled with much pain and suffering, she said she would not have had it any other way. “He was one of the greatest things that ever happened to me and he made me who I am today,” Stern said.
But Stern believes she should have been able to make an informed choice about whether to proceed with the pregnancy. “Shouldn’t I have been able to make that decision instead of having it made for me?” she asked. “He suffered and died with no other options.”
