Jenessa's Journey

CHAPTER ONE: The SKY IS FALLING I remember the sound of the telephone the day my doctor called with the results from my Alpha feto-protein (AFP) test. She said the results were "off," and that she probably had just made a mistake on my due date. She explained that if your due date is calculated incorrectly, and you take an AFP test too early, then the results can come out wrong. She was certain that explained the "funny" results. Well, maybe. Or maybe I should take another AFP test in another week. Without getting too nervous, I agreed to the additional test. You know, just to be sure. After all, I wanted to rule out the possibility that my baby might have Down syndrome, so I could relax and enjoy the rest of my pregnancy. So on May 26, my birthday, I took the blood test. Again. The alpha feto- protein test is also known as the “triple screen” test. Blood is drawn from the expectant mother between 16-18 weeks of pregnancy. A laboratory then measures the levels of three substances: 1. Alpha feto-protein: a protein produced by the liver of the fetus. 2. Estriol: a pregnancy hormone. 3. 3. Human Chorionic Gonadotropin: another pregnancy hormone Elated levels of alpha-fetoprotein can indicate the presence of a neural tube defect such as spina bifida or anencephaly. (Failure of the brain to develop.) Low levels of alpha feto-protein and estriol, combined with elevated levels of HCG, can indicate Down syndrome. However, abnormal levels in this triple screen test are not by themselves diagnostic. They merely indicate a risk and that further tests, such as ultrasound or amniocentesis, should be considered. When I heard from my OBGYN, she was concerned and confused. The results hadn't changed; the count was still "off." She still felt everything was probably OK, as these tests were sometimes inconclusive. After all, the baby had a good, strong heartbeat, and her growth rate was in line with her gestational age. But she suggested that I see a specialist, called a perinatalogist. (At the time I didn’t even know what that was, let alone how to spell it.) There I could be given one of those new high-tech ultrasounds, where you get a clearer view of the baby. They could do special measurements, and give me an amniocentesis if they thought it was necessary. That way, we could rule out for sure any chromosomal disorders. Before we even had a chance to digest what all of this might mean, my husband Bill and I were sitting in the perinatalogists office. Only a few days had passed since the results from the first tests; those days had been spent wandering around in a fog. Now we were listening as the doctor explained the ultrasound procedure to us, which seemed simple enough. They would look, they would measure, they would calculate. Depending on the findings, they would decide whether or not to proceed with the amniocentesis. Because their equipment was so high-tech, the amnio could be done with the smallest of risks. The ultrasound was amazing! I could see my baby's tiny face. The fingers, the feet....wow. In past ultrasounds I could barely make out the baby (I always thought the baby looked more like an alien than an actual child.) This time I could see the eyes, the nose, the tiny little arms and legs...and when the baby rolled over with legs apart, my husband and the doctors assured me we were expecting a girl. The technicians measured her femur lengths, which are usually shorter in babies with Down syndrome. Hers were normal. Her features looked normal. Her brain measurements were normal. All of her internal organs measured normal. Next they measured her neck, which is usually a big, tell-tale sign. Short, thick necks are commonplace in kids with Down syndrome. Hers was normal. The technicians were all starting to smile, and the tension in the room was easing with each bit of good news. Only one more hurdle: her heart. If this appeared normal too, the doctors felt the amnio wouldn't even be necessary. But, in the next five minutes, everything changed. Her heart had a hole between three of its four chambers. One of her arteries was too small, and not enough blood was flowing where it was supposed to flow. Before long, Dr. Douglas King, MD, a specialist in Pediatric Cardiology, was brought into the room. He began circling the "defects" on the screen. He explained to us what was wrong with our baby's heart. He used a pointer on the screen to show us the specific defects, and explained to us the inner workings of the heart. His first diagnosis was twofold; our baby had Tetralogy of Fallot and a complete Atrioventricular Canal Defect. (Complete medical explanations can be found by visiting the American Heart Association at www.heart.org.) I had no idea what this man was talking about; I didn't want to understand. I couldn't even make out the heart on the screen, let alone the vessels and chambers. I couldn't listen anymore. So Bill listened, and Bill understood. I remember thinking OK, OK, she has a heart defect. That doesn't mean she has Down syndrome. But the doctors felt that because of her AFP results and this, we should go ahead with the amnio. We agreed. Results from an amnio generally take about 2 weeks to get back, but the doctors were aware of a lab using a new process that could provide answers within 48 hours. They agreed to have my blood sent to this particular laboratory, so we wouldn't have to spend the next two weeks worrying. The amnio itself was mostly uneventful and just a bit uncomfortable, but nothing I couldn't handle. Bill held my hand throughout the procedure, and then, that was it. We were "excused" and could go home. Just like that. Get dressed and go home, and pretend that this entire appointment hadn't taken place. Oh, wait. The doctor wanted to discuss our options with us. If the test did in fact come back positive, meaning that the baby would have Down syndrome, of course, we could choose to keep the baby (how nice to be given that option.) But we needed to “be prepared for the many challenges that a child with Down syndrome would bring.” He said life as we knew it would no longer exist, and we would need to come to grips with that. (I already had three children; life had never been the same after any of them!) He went on and on, and explained that in Oregon we had until the 24th week to legally terminate a pregnancy. He suggested we give this some serious thought. Did he really need to say that? Did he think we were just going to go home and not think about it?? Next, Dr. King came back into the room. He explained that if we decided to keep the baby, he would support us fully and be there every step of the way. He impressed upon us the seriousness of her heart defects, and the extreme medical challenges she would face. He would do periodic echo-cardiograms (basically an ultrasound of the heart) through my belly, and keep us posted on the growth her heart made in-utero. My head was spinning. I couldn’t speak. Bill and I exchanged glances and thoughts (the way married people do,) but said nothing. As I was dressing and preparing to leave, a nurse came in and gave us a handout on Down syndrome, which I quickly threw into my purse. Somehow I managed to finish dressing, and we left the office without making a scene.