Bad News

So, I last left off with Greg and I finding out that we were both carriers of SMA. That meant that every pregnancy we have has a 25% change of having a baby affected with SMA.  In that same note, 50% of the pregnacies would result in a baby that was a carrier of SMA (like Greg and myself) but would not have the disease, and 25% would not even be a carrier at all.  That same week, I was rushed in to get an amniocentesis.

In this procedure, a long, very skinny needle was put through my abdomen and into the uterus to obtain amniotic fluid. It was not very painful at all and they did this while watching via ultrasound to make sure the baby or the placenta was not pierced by the needle. We met with a genetic counselor before the procedure to go over genetic diseases and options. We decided the counselor would e-mail me when the results were in so that Greg and I could conference call her if we were both working and get the results together.

                                              16 weeks....just before our world started falling apart!!

At this point, I was 17 weeks. I had an anterior placenta on the right side of my uterus and was just barely starting to feel the little guy move. The following week at work, I was desperate for some coffee and mixed some regular into my typical decaf coffee. The extra caffeine must have really made him move! I was sitting with my 2 managers at work interviewing a potential new nurse. I must have looked like a crazy person because Little Man kept kicking low and left and it kept making me jump!! That was the first time I realllly felt him moving! Such an amazing feeling!!!

We were told the results from the amniocentesis would take 4 weeks!! The wait was excruciating!! At 19 weeks, a nurse from my regular's OB office called to tell me they had results (my amniocentesis had to be done with high risk OBs with Maternal-Fetal Medicine at a different office). They had amnio results!!! They told me he was a boy (I already knew that) and that results read that chromosome testing was normal and he was only a carrier of SMA and would not be affected!! OMG! I broke out in tears immediately!! Relief and absolute GLEE washed over me! I couldn't believe it! I quickly called Greg to tell him the news! I then immediately called my mom to tell her!!

About an hour later, I had come down from the high of the news when I realized.....there is no way those could have been the amnio results....it was too soon! I work at the same hospital where I had the test done so I looked in my chart  in the computer (it is legal to do!). There were recent testing results sent via fax to my OB's office. I took a close look and saw that my OB's office was in fact wrong. There were results back from the amniocentesis regarding chromosomal testing.  Everything from that was negative for any type of chromosomal anomaly like Down's Syndrome or any other trisomy disorders. The SMA carrier results were actually my own results. When I had the amniocentesis performed, they also took my blood so that they could make sure the cells from the amniotic fluid were from the baby and not my own cells. The SMA results were MY blood results showing again that I was a carrier of SMA. I quickly called back the OB's office and left a message as well as leaving a message with the genetic counselor telling her what I was told and what I found in my chart. I was 99% sure at this point that I was correct and the OB's office was mistaken. I was absolutely devastated.

The next morning the genetic counselor called me to confirm that the only amnio results were in fact the chromosomal tests and NOT the genetic tests. The nurse from my OB's office then called to apologize for reading the information correctly and giving me the wrong results. UGH! Back to waiting....

At this point, all we could do was keep busy. I dove into work and school. Greg and I were tentative about talking about any future plans that would involve a baby. As the weeks went on, we started to put our guard down. There was a 75% chance the baby would be okay. I mean, the odds were in our favor. We again started making plans and imagining the holidays with our November baby. I started looking at baby shower themes. I have always loved the story of Le Petit Prince (The Little Prince). There were so many cute party ideas on Pinterest! :)

In the mean time, the bump started growing. I hit 20 weeks on June 26th! That day I went to a nursing leadership retreat. Most of the people there were middle-aged women. My table was full of them! I was fully showing at this point and they loved the fact that I was pregnant! Each of them had lots of advice and were so kind to me! They told me I would love motherhood as it was such a special experience.

20 weeks is where life falls apart. I will stop here and get to the darkness next time.

1.5 Years Later.....Innocence Lost

I know I am so sporadic when posting in this blog. I actually forgot I had one. However, life has brought me the biggest hurdle I have ever gone through. I am frantically searching for ways to cope and wake up each day. Spoiler...this is not going to be a happy blog any longer full of blissful marriage life, cute dogs, and traveling.

I'm not sure if I am resuming blogging to find an outlet for my grief and sanity or to help others who find themselves in the devastating circumstance that I did.....or maybe for both.

Catch up: The past year and a half was mainly spent working, traveling, and starting a master's program. I am still working two jobs....inpatient pediatric nursing and legal nurse consulting. I started an online Master's program in Nursing Leadership and Administration in August 2014. Greg and I took trips to Venice and the Adriatic Coast (via a cruise down the coastline) in May/June 2014 and to Amsterdam, Brussels, and Luxembourg in April/May 2015. The biggest change of the year.....I am currently SUPPOSED to be 6 months pregnant.

Supposed to be. What a hellish ride my first pregnancy was. Greg and I started talking about being ready to start a family in the summer of 2014. I got my IUD removed in September of that year. However, being me...I initially freaked out a little and took oral birth control for the rest of the year. I focused on healthy eating and ramped up my workouts.  I turned 30 in December of that year. For some reason, that milestone made me feel officially ready to start trying to get pregnant.

Being the pessimist I can sometimes be, I thought it would take us at least 6 months to get pregnant. Ha! We actually got pregnant the first month trying in January, but lost that pregnancy to a chemical pregnancy (a very early miscarriage before most people even know they are pregnant). I was OK with the chemical pregnancy as I am pretty well educated in the fertility process and understand that MORE than 1 in 4 pregnancies will end up in some sort of miscarriage.

The very next month, February, I officially got pregnant.  Early pregnancy was quite easy for me. I felt almost guilty for how fast we fell pregnant and how little symptoms I had. I never had full blown morning sickness.....I would feel a little queazy with some indigestion if I didn't eat at least every 90 minutes but I never even threw up once. The biggest early pregnancy symptom I had was extreme fatigue. But, I never missed work and even kept up my workout schedule which I feel really helped keep all my symptoms at bay. I did feel like I started gaining weight quickly, but I also went on vacation to Amsterdam, Brussels, and Luxembourg between weeks 10 and 12. Since I couldn't drink....we ate a lot! For as slim as the Dutch are, they sure eat a lot of fried foods and cheese! :)

At 8 weeks we had our first ultrasound. The little nugget was there with a healthy heartbeat! We went in for our 12 week appointment just a few days after we got back from vacation. We brought my mom along for the scan to see the first pictures of the little nugget actually looking like a baby now instead of just a jelly bean. My OB offered first trimester prenatal genetic screening at that appointment. Neither Greg nor I had any family history of genetic diseases, but working as a pediatric nurse for the last 8 years I knew I didn't want to bring a child into the world with any known disease that would cause a lack of decent quality of life. I see too many children suffering every single day. I couldn't knowingly put my own child through that. Greg felt the exact same way. So we had the genetic testing done through a company called Progenity.

Two weeks later....the nurse emailed me to let me know the results were back. I called the office and asked her if she could wait to tell me the gender until Greg could conference call in with me (we were both at work that day).  She said no problem and then told me the baby results were OK chromosomally but my blood work indicated that I was a carrier of SMA or Spinal Muscular Atrophy. Later that day, Greg and I conferenced called the office and found out we were having a BOY! :)

SMA is recessive genetic disorder in which if someone has SMA they lack the gene that allows for proper firing of motor neurons responsible for muscle movement. Most babies affected with it appear normal at birth, but then start missing milestones like head control and sitting up. The disease is progressive and eventually babies lose the ability to breath. SMA has a 95% fatality rate. There are 4 types of SMA that are determined by severity. Most babies affected are type 1 and typically die between 6 months and 18 months of life.

Since I was a carrier of SMA (not affected by the disease but carried only 1 gene to pass along to my baby, not 2), Greg needed to get tested to make sure he was not a carrier. During this time, we found out that 1 in 40 people are carriers of SMA. During the 2 weeks it took to get Greg's results back, we were a little concerned but not too worried. What were the chances BOTH of us were carriers of this?!

(I just realize this got super long and I will stop here for now.)