Chapter 04

After a very long weekend of nothing but crying and sleeping, my husband and I prepared for our specialist visit. We took our daughter to her grandmas and headed out to St Louis to visit Hospital X (name removed because my opinion on them isnt the best). We were going to meet with a genetic counselor, a maternal and fetal medicine specialist, and to get another ultrasound to take a look at Allie again and confirm the findings of the prior appointment. We get to the hospital and we are warmly greeted, I fill out a dozen forms and take a seat. I was sitting there among many other blissfully pregnant women and I couldnt take it. I just sat there as silent tears streamed down my face. I was finally called back to see the genetic counselor. She was a pleasant woman and was very kind to us. She asked us many questions regarding our family history and started telling us about the test they wanted me to do that day to confirm Allisons diagnosis – the amniocenteses. Well, I am not one to walk into a place and let them tell me what I am going to do. I had researched a lot over that devastating weekend, and I knew the risks involved with this procedure and I also knew there were other options. Having an amnio carried a slight risk of miscarrying my baby. I was not willing to do that. I had read about another test, a simple blood test, called the Maternit21 test. Its basically where they separate maternal blood from fetal blood and count the chromosomes of the fetus. Its a simple arm stick. No risk. This test would test for the 3 most common Trisomies – Trisomy 21, 18 and 13. I told her I wouldnt be having the amnio that day but instead I wanted this test I had read about – the Maternit21. Since they were guessing Allison had either 18 or 21 (the two most common of the three) then this test should be able to tell us what we are in for. If the test came back negative for trisomies, then I would consider a more invasive procedure. The geneticist gave me a quick arm stick and drew the blood they needed for the test. I would know the results in 5-10 days. This seemed like a lifetime but I didnt have any other choice but to continue to wait. Then she started describing the different trisomies to me that they were assuming Allison had. First was Trisomy 21. Downs Syndrome. I was very familiar. I had a great aunt with Downs and she was and is still one of my favorite people I have ever encountered in my life. I also have a childhood friend with a son with Downs. I was ok with Trisomy 21. That would have been the optimal choice with the options I had. Next was Trisomy 18, Edwards Syndrome. This is considered uniformly fatal and “incompatible with life”. There was that term again, and every time I heard it, it made my blood boil. The geneticist just explained those two trisomies. Trisomy 21 and Trisomy 18. So I asked her, “what is the third Trisomy that this test is for? Trisomy 13?”. The genetic counselor told my husband and I that Trisomy 13 is extremely rare. Only 1 in 16,000 live births are Trisomy 13 and with our age and our health and our family history she highly doubted that we were dealing with Trisomy 13. She also told us that of the three, this is the worst. Extreme birth defects, and the children never survive. Id be lucky to even carry to term. After a quick glaze over Trisomy 13, the genetic counselor sent me back into the waiting room. Back to the laughing pregnant women who were all talking about how they didnt know how they were going to handle having 2 or 3 children at home. I sat there, praying that I would have my daughter to bring home like these women, and finding myself very resentful at them and the way they were joking about their children being so burdensome. Now, if you know me personally, you know that I dont take well to this kind of chat anyway. So finally they call us back for the ultrasound. I have been dreading this for 4 days. I go in and lay down. As the nurse prepares to start, I burst into tears. I tell her I cant watch and to please turn my monitor off and tell me NOTHING that she sees. I cant hear that my baby is sick again, I already knew and I wasnt willing to listen to it again until a real doctor came in to discuss the findings with me. We sit in silence for 20 or so minutes, probably the most uncomfortable ultrasound that the poor tech had ever performed. I just cried the entire time. Then the Maternal Fetal Medicine specialist came in. He took the wand and looked for a moment or two himself and turned the machine off. He tells me that they dont see what the first ultrasound had shown, minus the cleft palate and lip. He said he didnt see a problem with her brain. Of course I burst into tears again, I was overjoyed. Then he said he did see a heart problem, but it wasnt what the previous ultrasound had found either. He called it Tetralogy of Fallot. We had heard of this! Much more common, much more treatable! He said of course the blood work hadnt come back but that we could POSSIBLY be dealing with something much less severe than a trisomy. We had hope! Maybe our daughter wouldnt die afterall! We both smiled for the first time in 4 days! We left for home feeling much lighter – stopping to get lunch together on the way. Little did we know in 6 short days, our world would crash down around us again……


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