A few weeks of hell but only wonderful things to come.
For these past weeks been a constant terror in my life. This pregnancy came as a shock because I wanted to wait 2 years post wedding and I have issues with my weight and hx of high blood pressure. I do take medication for my bp but I never wanted to be on meds while pregnant because I know that would be one strike against my child. We all as moms to be want our child to have a fighting chance and not be faced so early on with obstacles. During my second ob visit my b/p was a little on the high side 120/82(diastolic) is my problem. The doctor said for my next visit they wanted to get a 24hr urine collection because it was too early for pre-eclampsia and just wanted to make sure my bp is just running the normal high. Before then my diastolic been under 76. Well for that visit they also wanted to finally do my prenatal labs and test for sickle cell anemia since my dh and I are both AA. I have no family hx of sickle cell and almost declined but went ahead anyway.
A few days later I get a call from the ob office and my heart raced when I notice the number come across my caller id. I knew it was not good. The doctor said my labs came back for 1:85 chance of Down’s and I tested positive for the sickle cell trait and now my husband will need to be tested next for sickle cell. I was upset and was in the process of leaving out for work. I could not believe that my baby might have down syn and sickle cell. I remember crying and telling my husband that I have so many dreams for this baby and now we have to face this. I was torn! I have two younger brothers on my mom’s side with autism and my husband works with physically/mentally challenged. I know how hard this can be but my thought was…what would happen to my child if my husband and I die? I’ve spent many nights crying and waking up from dreams thinking about what will happen to my brothers if my mom passed. I never want to put them in a home and have to worry about them being mistreated and now my child might be faced with this too.
We had a routine appointment already scheduled to meet with the doctor the next following week and they plan on doing another u/s and talk about my options for additional testing. My mind was all over the place. I would be fine one minute and next minute I was thinking the worse. I remember the first moment I found I out I was pregnant alone at home and I remember just praying up to my grandparents, stepfather and my mother in law to watch over my baby and be his/her guardian. During the u/s the technician looked for the some of the markers for ds but the baby fingers, back of the neck and nose appeared normal. Now u/s is not a definite way to r/o but can sometime catch down features. We met with the doctor and she sent me to the genetic counselor for info and procedures. I was scared about the amnio because I know the risk but I also work in a Genetics Lab and was concerned about my pregnancy being leaked out at work. My boss and one of the director’s knew and I expressed concerns about patient privacy and maybe anonymous name but that would not work. Even now at 22 weeks I still have not shared at work that I am pregnant. I did not tell anyone (friends and family) included of what was going on with the down syndrome and sickle cell possibility with the baby. I was so upset and hurt that we shared the pregnancy with everyone and now it might be something wrong. I did call my mom and ask her about the sickle cell….I was livid to find out that my biological dad had the trait and my mom knew and never told me. She just assumed it was no big deal. I wanted to go off on her so bad because I Felt this was something I should’ve known about; especially when you marry someone and you might have kids some day.
After meeting with the genetic counselor she broke down the numbers with me and a graph. Just because I have a 1:85 chance of down syndrome does not mean my baby is positive. That is for every 85 random births one baby will be positive. She also said the u/s can detect 50% of down cases and so far that negative u/s is still in our favor but still in the high risk category. The counselor also mentioned that babies are some tricky little creatures and like to play with our blood levels and my hx of blood pressure can also make my levels be abnormal too. Now was the option of amniocentesis or harmony testing. She told me that the harmony test can detect 99% cases of down syn and only my blood is required, nothing invasive like the amnio. I also had to account for insurance coverage and the bill for amnio(done in hospital) vs harmony test. The counselor said most insurance would rather pay for the blood test than the amnio based on the cost. The Harmony test is very new been around for 1-2 years but I went with that and only do the amnio if the harmony came back false positive or inclonclusive. My turn around time was 2 weeks due to the Christmas holiday and the genetic counseling office being closed. Well, the counselor called me the Friday before Christmas and said my results came back in with 99% of no down syndrome detected. That gives me 1:10,000 birth just like any normal pregnancy. I said no more testing and I will weigh my options based on the u/s and the results. My husband lab work also came back and he was negative so now the baby will either have the trait like me or none at all. Btw…please put me down for Team Pink! =)