To understand where I am coming from, I need to give a little background.  I grew up in a middle class family, went to college, met the man of my dreams. We moved to Kansas City for medical school together. We graduated and moved to Michigan for our residencies. We got pregnant just before I started my first ‘real’ job as a hospitalist. I was 29, healthy, and didn’t have any reason to think anything could be wrong with my pregnancy. I had all of the testing that was offered and it was all within normal limits.  I continued to ride horses and was the high point winner in my age group at the Color Breed Congress in Tulsa when I was 16 weeks pregnant with sweet baby C. Life was great.  I loved my job.  My husband was doing well in his orthopedic surgery residency and was applying to fellowships. And then, one cold February morning (February 21st to be exact…fat Tuesday), I drove to work, got out of my car, and slipped on ice. I managed to pull myself up and waddle into work ( I was about 30 weeks pregnant).  The secretary in my office looked at me when I walked in and knew something was wrong.  I burst into tears (stupid pregnancy hormones) and told her what happened.  She got me a chair, I sat down, and had my first contraction.  I was in labor. I went up to the OB floor of my hospital and checked in.  It was too soon for me to have my baby and I was starting to freak out.  I called my husband who was on an elective rotation at a trauma hospital 45 min south of where we lived…and I worked 45 min north of where we lived.  I told him I fell.  He said, ‘well you are ok right?’ and I told him that I was having contractions and getting checked out.  He still wasn’t that concerned. But then I told him the contractions were 2-4 minutes apart. Then he freaked out.  He drove up to my hospital in *less* than 1.5 hours. The physicians taking care of me did a good job.  They were able to slow my contractions.  They did an ultrasound to make sure I wasn’t having an abruption from the trauma of the fall.  There wasn’t any sign of abruption but they did find that I had polyhydramnios, which is too much amniotic fluid around the baby.  I was discharged home with instructions to follow-up with my doctor the following day. I went to see my doctor and we talked about the possible causes and what the plan would be. He arranged for me to see the MFM (maternal fetal medicine aka high risk) doctor and have a high level ultrasound the following day.  My husband was unable to go with me to the appointment because he had to work, so I went alone.  BIG mistake. You have to remember, I am a doctor.  I’m not an idiot.  And I know when you are doing an ultrasound and focusing on certain parts and that they don’t look right.  I could tell by the tech’s face. After the 45 minute long ultrasound that I knew wasn’t normal, I met with the physician.  He was an older man and was to-the-point.  He told me something was very wrong with my unborn baby’s brain.  He said he didn’t know exactly what it was and that we needed to do more testing. We talked some more but I don’t really remember what was said. I was given orders for labs and a fetal MRI and left the office in a daze. I called my friend who was a senior OB resident and told her what had happened.  I was hysterical.  She called my attending OB physician and he arranged for me to return to the MFM clinic that same day to have an amniocentesis. (An amniocentesis is when they use an ultrasound and stick a giant needle into your uterus and remove some of the fluid around the baby). I was supposed to go to work after that appointment.  I called the office and explained that something was wrong with my baby but I didn’t know what and that I needed to have more tests done.  I didn’t go into work.  I pulled over and called my husband.  He came home and we went to the amniocentesis together. That day started the weekly emotional and mental assault on my husband and I.  Despite being in medicine, diagnostic testing takes time and results take time.  It took 2-3 weeks for all of the amnio results to come back because they have to grow the cells for a week before they can do the karyotype and other testing. The week after my amnio, I went to have my fetal MRI.  We drove to Ann Arbor at 5 in the morning for the test because they wanted the fetus to be as still as possible.  Apparently babies sleep in the womb and the mornings are the best time to perform these tests (I had no idea). We waited to make sure the radiologist was able to see what he needed to see, then we left and got breakfast. That was a Thursday. I went to work later that day to work the ‘swing’ shift.  ( A very busy shift doing admissions in the ER).  I got a phone call from my attending OB physician who said he got the results of the fetal MRI.  I still remember what he said to me.  He said, “I have to be honest with you Susan, I had to hit the books on this one”. It was something so rare my doctor had never heard of it in his 30 years of practice.  So, I googled it.  BAD idea. I called my friend that is a pediatrician and told her what my doctor said.  He said my baby had lisencephaly and that it looked like it was Miller-Dieker syndrome.  My friend immediately said, “Don’t google it!”.  Too late, I already had. I left the ER in tears.  I went back to my office.  I called my husband. (Luckily he had switched rotations, It was now the beginning of March and he had arranged a rotation at my hospital so that he would be close to me during the end of my pregnancy). He came and took me home. We still didn’t have the official amniocentesis results, and with the MRI read, the MFM physician requested that they do the sequencing for Miller-Dieker syndrome. The following day I had an appointment scheduled with the MFM physicians in Ann Arbor to go over the MRI and to have a genetic counselor consultation.  My husband and I went together to the appointments.  I had an ultrasound before I was going to meet with the physician and the counselor.  I couldn’t watch the ultrasound.  It wasn’t a happy opportunity for me to see my unborn child.  I sat on the ultrasound table with tears rolling out of my eyes. The physician came in and went over the results of the tests, which we already knew.  And we also knew what it likely meant because we had been reading about MDS and lisencephaly.  It meant that our child might not live.  It meant that she would be severely mentally retarded, would have seizures that were so bad they wouldn’t be able to be controlled. It meant that she wouldn’t walk or talk.  It meant that she probably wouldn’t live more than a couple of years if she survived the rest of the pregnancy and delivery. Then we went down the hall and met with the genetic counselor.  We reviewed the tests, again. We reviewed what they meant, again. And then the counselor said something that I will never, ever forget.  She said, “In the state of Michigan you can’t terminate a pregnancy after 24 weeks.  But you can in other states. Would you like a list?”. I was appalled. I am pro-choice. But I could not fathom that.  I was 7 months (33 wks) pregnant! The following day was a Saturday.  It was the day of my baby shower.  At this point in my life, it was the worst day of my life. The following week, we got the official amniocentesis results showing a mutation in chromosome 17.  Our daughter had Miller-Dieker syndrome.

**edited to correct dates