Myriad Genetics Blog Finding out you’re one in a million can be life-changing Finding out you’re one in a million can be life-changing July 30, 2015 News Patients Kerri and Logan, who just turned one. Stanley was our first baby. He’s the bulldog my husband, DJ, and I adopted after we moved in together. We named him after the sports bar in Chicago where we met right after DJ graduated from Northwestern. I was in my junior year. We didn’t get together immediately – at the time we were dating other people. But it wasn’t long before we decided we wanted to be together. DJ was the first to want to get married. It took living together for a year before I knew I was ready, too. And it was the same way with kids. He was ready. I wanted to wait. When I turned 30 the timing suddenly felt right. I made an appointment to see my doctor who suggested I get a complete screening after she learned my Mother is Jewish and my Dad Irish Catholic. She also recommended we use Myriad Women’s Health and told me that until recently getting a test like that would have cost thousands. Now it’s much cheaper. “The chances he was also a carrier were very small. I wasn’t worried.” I took the test and two weeks later discovered I’m a carrier for only one disease – glycosylation type 1a, a metabolic disorder. The doctor reassured me the chances DJ was also a carrier were extremely small – like close to one in a million – so I wasn’t worried. I asked DJ to take the Foresight Carrier Screen just in case. The doctor called me right away with the results. Unbelievably we were both carriers for the same very rare genetic condition. The doctor told us that many children with this condition die even before they’re born and those who are born generally don’t make it to their first year. If they do survive they typically spend their lives in a wheelchair and can’t communicate. I remember thinking, “What the heck?!” It was so different from what we’d been expecting to hear. We spoke with Jessica, a genetics counselor at Myriad Women’s Health, and had a chance to ask ourselves what genetic conditions we could handle as a family. Prior to getting our DNA tested it had never occurred to us that anything could be wrong with our children. “No mistake about it – we were a one in a million couple.” Given how very low the odds were we also decided to take the test again. DJ is Puerto Rican and his family came from Spain. We really thought a mistake had been made. Myriad Women’s Health offered to let us take the test again, this time for free. No mistake about it – we were a one in a million couple. We decided we needed more time to think about what to do next so we put our baby project on hold. About five months later I ended up getting pregnant anyway. We were happy and freaking out at the same time. We also decided not to tell anyone. When I was about three months along we went ahead and had diagnostic testing done at Cedar Sinai Hospital in LA. Because the condition is so rare we could find only one lab that could evaluate the sample and it was all the way across the country at Emory University Hospital in Atlanta. Right around that time there was a huge crazy snowstorm and the lab was forced to shut down. It took forever to get the results. “This experience changed the way we’re having a family.” This story ends well. We have a healthy baby girl, Logan. Like her parents, she’s a carrier of glycosylation type 1a, which means she’s just fine. Everyone who meets her says she is the happiest little girl they’ve ever seen. We are beyond blessed. Still, we don’t think we can go through again what we did to have her – it’s just too emotional. When we’re ready for our second child we’ll pursue IVF in a way that allows us to test an embryo for this genetic condition. We share information about Myriad Women’s Health with our friends all the time. It’s so important to plan for your future and DNA testing makes it easier. There’s a 25 percent chance we’d have had an affected child and without the screening we’d never have known. Now we do know and it has changed the way we’re having a family. The Foresight Carrier Screen is easy, it’s so affordable, and it gives you information that’s really important to the future of your family. I’m not sure why everyone who wants a child isn’t having it done.