Oct. 08--With long eyelashes and a round face, Timothy Michael Carter was his parents' angel.
He was born in 2003 and was perfect in every way, says his mother, Angela Carter.
"He had kind of an angelic face," she said.
Then, when he turned about 6 months old, friends and family began to point out that he was "floppy."
As he grew older, he missed developmental milestones. He couldn't crawl and he couldn't sit up, Carter said.
She was in denial for a while, but then the doctors began running all kinds of tests to see what was wrong -- perhaps cerebral palsy or muscular dystrophy. But it wasn't either.
"The doctors didn't know what was wrong because they hadn't seen it before," Carter said.
She noticed that throughout the process, various doctors would ask the couple if they were Jewish. Once they replied no, the doctors moved on to other possibilities, she said.
"I didn't know why they were asking us that," she said.
When Timothy was 15 months old, the Carters took their son for a routine eye test. The doctor saw cherry-red spots in the back of the eye -- a sign of Tay-Sachs disease.
A blood test later confirmed it.
Tay-Sachs is a fatal genetic disorder, primarily known among people of Eastern European Ashkenazi Jewish descent, according to the National Human Genome Research Institute. It is also more common among infants and children.
Over just a few years, Tay-Sachs destroys a child's nervous
system. The child begins to have recurrent seizures, and his or her mental capacity diminishes. The child gradually regresses, eventually becoming blind, cognitively impaired, paralyzed and nonresponsive. Most sufferers die by age 5. There is no treatment or cure.
Timothy died just days before his third birthday.
"It was devastating," Carter said. "He was just amazing. He was our first child and we tried for a long time. He had gorgeous eyelashes and brown eyes. He was really special. Everybody doted on him."
Increasingly, as more screening is done, such genetic diseases typically associated with Jewish people are becoming more prevalent in the general population, said Dr. Michael Kayser, medical director of the Warren Clinic Center for Genetics and the Center for Genetic Testing at St. Francis.
"We're all at risk," he said. "These rare diseases pop up."
Although Ashkenazi Jews are at greatest risk, the next population with a higher risk are Irish Americans. Others at risk include Louisiana Cajuns and French-Canadians living near the St. Lawrence River, according to the Cure Tay-Sachs Foundation.
Carter and her husband are carriers, but don't have the disease.
Before Timothy was diagnosed, they had another child, Adam. At age 5, he is a carrier but he is healthy, she said.
"I want people to know that this gene is out there, even if they aren't Jewish," Carter said.
To help people -- especially those of Eastern European ancestry -- find out more about Tay-Sachs, as well as other common Jewish genetic diseases like cystic fibrosis, Gaucher and the BRCA genetic mutation, a seminar has been scheduled.
The seminar, which will feature doctors and specialists, is from 2 to 4:30 p.m. Sunday at the Charles Schusterman Jewish Community Center, 2021 E. 71st St.
Free genetic seminar Sunday
Who: If you are of Eastern European ancestry, you may be at risk for genetic diseases such as Tay-Sachs, cystic fibrosis, Gaucher and the BRCA genetic mutation for breast, ovarian, prostate and pancreatic cancers.
When: 2 to 4:30 p.m. Sunday
Where: Charles Schusterman Jewish Community Center's Barbara and Dave Sylvan Auditorium, 2021 E. 71st St.
Speakers: Dr. Michael Kayser, medical director of Warren Clinic Center for Genetic Testing at St. Francis; Dr. Laurie Flynn, medical director of the St. John Breast Center; and Jack Zenerhaft, a local attorney, University of Tulsa law professor and an ordained rabbi.
For more: The seminar is free. To RSVP, call Mindy Prescott at 935-3662 or e-mail mprescott@jewishtulsa.org.
Kim Archer 581-8315
kim.archer@tulsaworld.com
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