October 6, 2010
KUSA – She never got the chance to meet her, but Katie Dowdy will always consider her grandmother a guiding force in her life.
Dowdy was named after her grandmother Katherine, who died just a few months before she was born.
Dowdy’s paternal grandmother was in her 50s when she died from breast cancer. She was the mother of 9 children; her youngest was about 8-years-old when she noticed a lump in her breast.
“She decided not to tell anybody. Back in those days, you just put your nose to the grindstone, she didn’t tell anybody until it was too late,” Dowdy says.
When Dowdy was in her 20s, researchers with Creighton University contacted her father’s family, asking them to take part in a study looking at hereditary breast cancer, specifically the BRCA1 and BRCA2 genes, linked to breast and ovarian cancer.
Dowdy’s aunts were all tested for the genes, just one of them tested positive. Dowdy’s father agreed to be tested too. His test was positive. Then it was Dowdy’s turn.
“It came back that I was positive for the BRAC1 gene, which increases your chance from 12 percent to 87 percent for breast cancer and increases the ovarian risk. The geneticist I spoke to at the time suggested I get a full mastectomy by the time I’m 40, which when you’re not even 30, is quite a shock,” Dowdy said.
This news led Dowdy and her husband Jason in a new direction. They had been trying to have children, but were not successful. Given the news about Dowdy’s genetic history, they decided to learn more about fertility treatment.
Dr. William Schoolcraft of the Colorado Center for Reproductive Medicine told the Dowdy’s about the screening procedures that are a part of In Vitro [glossary]Fertilization[/glossary]. They learned about Preimplantation Genetic Screening (PGS), a form of genetic testing that allows couples at risk for certain chromosomal or genetic disorders to have [glossary]embryo[/glossary]s tested before a pregnancy is established.
“In general, we’re only screening for three genetic disorders routinely: Cystic fibrosis, spinal muscular atrophy and Fragile X. After that we only screen specifically if a patient has a very troubling family history for a specific problem, so we’re only looking for lethal or fatal disorders,” Schoolcraft said.
The Dowdy’s had seven viable embryos and five tested positive for the breast cancer gene. As disappointing as that news was for the Dowdys, they were blessed with a successful pregnancy. Reagan Annabel was born weighing 7 pounds and 12 ounces.
Katie and Jason Dowdy were overjoyed and say they have no regrets about their decision.
“We have a beautiful baby girl, who still has a chance of getting breast cancer, but it’s back to the normal population and not as high as some of the women in my family,” Katie Dowdy said.
For more information on reproductive medicine, go to www.colocrm.com.