Myriad Genetics Blog An IVF Nurse Becomes an IVF Patient An IVF Nurse Becomes an IVF Patient March 25, 2013 clinical An IVF nurse that needs IVF, how ironic? That is the thought that kept running through my head as I stared at our Counsyl results. Smith-Lemli-Opitz? What was this? I had never heard of it and certainly did not expect to be a carrier of this. Smith-Lemli-Optiz? How could these 3 words be changing all of our plans? I read the report over and over. How could this be happening? It all started when a doctor I work with came back from a conference and informed us of this new test called Counsyl. She described this test, how it tests for multiple recessive diseases, like cystic fibrosis and spinal muscular atrophy, and how its costs were less than just getting screened for cystic fibrosis. I knew this test sounded like something I wanted to do, along with my husband. I wanted to “make sure” we did not carry anything on the test. I assumed we did not but felt it would be the responsible thing to do. I worked with Counsyl to set up our clinic to offer the test to our patients. When my husband and I decided we were ready to start a family, I expressed my desire for both of us to do Counsyl testing. I explained what it was to my husband, and he agreed that we should do it. We completed the test and sent them to Counsyl, then waited for our results. I will never forget the feeling I felt when I first saw our results. I remember just glancing over them, as I just knew our results would be fine. I knew we would both be carriers of something, but I never expected we would both carry the same thing. I read over the description of SLO, what it is and what symptoms it causes. I remember a pit forming in my stomach and disbelief that we would need to do preimplantation genetic diagnosis (PGD). That night I lay in bed doing as much research online as I could about SLO. There are varying degrees of severity; however, the mutations we both carried were associated with the severe form of the disease. This meant our children could be born with heart problems, developmental delays, cleft palate, and would possibly need a feeding tube. I could not believe that those three letters were changing my life and all of my plans. Joe kept saying 1 in 4 is not that bad, that means there is a 3 in 4 chance of having a healthy child. To put it in perspective for him, I compared the chance that our child could have this disease with Russian roulette, in which the chance of dying is 1 in 6. Our chance of having an affected child was higher than that. That seemed to hit him, and he really understood the seriousness of our situation. Our plans to start a family were on hold, and the fact we had to do IVF became a reality. The next Monday at work, Dr. Whitworth called me to talk about our results. She said this was serious, and we needed to do PGD. We talked about what SLO is and what we would do. She said that when Joe and I were ready, we could start our cycle. She told me she believed we would have a healthy child. Still, I felt like I was in a fog as I wrapped my mind around this new path we were going down. We took some time to discuss when we wanted to proceed. We also talked with our families, and they were all supportive. We decided to go ahead and meet with Dr. Whitworth together, and to meet with Amy Jones, an embryologist, to discuss the actual process of PGD. Being an IVF nurse, I knew how to plan a single gene PGD cycle, but I did not know the lab process. I also felt it was important for Joe to be as involved as possible and know what would be happening. In order to test the embryos for our particular mutations, a probe had to be made using our DNA along with our parents’ DNA. They would then use the probe to detect the presence or the absence of our specific mutation in our embryos. Our probe took 3 months to build, so in May of 2011 it was ready. We started our IVF cycle in September and had our embryo transfer on October 18th. We transferred 1 unaffected embryo. After a VERY long ‘2 week wait’ on October 28th we received our pregnancy test results…POSITIVE!! We did have an amnio at 16 weeks to confirm that our baby did not have SLO and were relieved to find I was carrying a healthy baby girl. Our beautiful daughter, Kinley Jo, was born on July 11, 2012 at 4:59pm. Jennifer, Joe and Kinley Jo were recently featured in a video about the Counsyl Test. Watch it here and share it with others. Jennifer, Joe and Kinley