The Risk Moving Forward

The final amniocentesis results finally came back about 10 days following the FISH results. These unfortunately left us with additional unknown and several questions. For the final amnio results the cells were left to grow for 7 – 10 days and then they were to be tested to determine the exact karyotype of the baby’s chromosomes. Well 10 days later the cells never grew and therefore we ended up with inconclusive results. We obviously felt once again like the exception rather than the rule but our genetic counselor proceeded to tell us that this was something she’s seen in trisomy 13 before so although it’s rare it is common. I’m not sure how one can use rare and common in the same sentence but we went with it.  So now were left with the question of what type of trisomy 13 was it? Was it the genetically inherited type where for some reason either my husband or I had an extra piece of the 13^th chromosome attached to one of our chromosomes?  Or was it in fact a genetic fluke in that it was a random event and had a small chance of occurring again? And lastly was it full trisomy 13 or was it mosaic, which we’ll never truly know but odds are it was full trisomy 13?

We were left asking ourselves, what now? I had read a lot about what other genetic testing could be done in the event we found out we were indeed a carrier for something. This would involve going down the IVF route and doing pre-implantation genetic diagnosis (PGD) of the embryos before they inserted back into the mother for implantation. Which I’m sure if you have any idea how much IVF costs this only would increase that cost significantly as well as complications.

Luckily, we had great resources available to us that recommended we do parental chromosome analysis to determine if my husband or I have any chromosome anomalies. So after some fight and several conversations with my ob/gyn I was able to get us both a prescription to get this blood test performed. All we had to do was go to one of the hospitals labs to get it drawn. Now herein comes even more complications. Evidently the hospital doesn't run these tests very often so the first attempt to get the blood drawn was halted due to the staff not knowing how much blood to draw or the correct tube to use. After several phone conversations the following day we finally were able to get our genetic counselor to straighten out the test requirements with the lab.

My husband and I went back the following evening to get our blood drawn. Now anyone that knows my husband knows he does not do needles well. He knew we wasn't going to be able to give nor watch the fertility injections and he has a history of passing out with getting blood drawn. We made sure the lab staff knew his history and we made sure he was laying down during the procedure. Once his blood was drawn we made sure he sat in the chair for some time and after a few minutes he said he was feeling well and let me get my blood drawn. As soon as I was finished my husband said he was getting lightheaded so we immediately had him sit back down. Two minutes later he was passed out and went in and out of consciousness a few times. In my opinion one of the scariest things I’ve seen him go through before. I’d rather not see that again so I was hopeful that this was the last time either one of us would have to get blood drawn for quite some time.  

Two weeks later, we finally received the results. Both of our chromosome analyses were normal. We were not carriers for trisomy 13. This was quite the relief. Now the only chromosome we were concerned about what the 7^th chromosome. We still wanted to know whether I was a carrier for cystic fibrosis. This was supposed to be tested back in April but wasn't for some reason. Luckily, if I was not a carrier my husband would be spared of any needles so we were hoping for that based on the previous experiences. But as far as trisomy 13 we were now at a 1% chance of having trisomy 13 happening again in a future child. That 1% is significantly high based on the typical risk for other 29 year olds who are having children but we weren't scared. We knew we wanted a family and we were willing to go whatever necessary to get there this was just part of our journey. 

Don't Try to Compare Loss

After the procedure I had no regrets but I did feel alone in my experience. Don't get me wrong I knew of several friends who had lost babies due to miscarriage but my situation was different. It wasn't a spontaneous loss of the baby. I didn't feel comforted by people who said they've been in my shoes. I highly doubt they have been. I didn't enjoy comments that told me miscarriage happens 1 in 5 pregnancies. It hurt when people would ask if I forgot to take my pre-natal vitamins. It killed my soul when someone would say maybe it had to do with what kind of workout activities I was doing although if they knew anything we went through to get pregnant they would have known I've been very restricted.

It became very apparent either people had experienced loss and I respected that and glad they were trying to be comforting or they had no idea and would immediately insert mouth into foot with an ignorant comment. Luckily I had a thick skin and a good friend who had told me as soon as everything started to happen that she apologized for the ignorant comments people would say to me. 

Now don't get my wrong I appreciated every single thoughts, prayer, note, card, text, and flower that was sent to me. They were all meant well and I know no one was meaning to be hurtful but sometimes things people said were not helpful. I just was struggling to really connect to anyone else who has walked in my shoes. I just wanted someone to eventually open up and say I've suffered loss but in a little different way similar to my situation. 

In attempt to not feel alone I started searching around on the Internet for articles, books, blogs, etc. that would help. Here are some of the resources I found that made me realize I wasn't alone in receiving some hurtful comments and advice but this also helped me realize I had to come clean and tell the whole story. 

Articles:
There Is A Story Behind Every Loss

I am the face of a Heartbreaking Choice

My Abortion at 23 weeks

Book:
Our Heartbreaking Choices

In conclusion, a piece of advice to myself and anyone else who has a co-worker, family member, friend, etc. experience loss. Don't try to say something that might make them feel better. Just say I'm sorry for your loss. Ask them if you can do anything. Ask them if they want to talk. I unfortunately experienced this first hand on the other side as a friend of a bereaved parent almost a year ago when one of my best friends lost their son. I didn't know what to say or do but I knew the last thing I wanted to do was accidentally offend them in some way shape or form. I quickly realized these items were off the list of things to say:

Six Things Never to Say to a Bereaved Parent

Coming Out about our TFMR

Unfortunately, we realized over the past year based on events that have happened to friends that life is not fair. It's hard to think that things don't happen for a reason especially since that is what everyone always says.  But no one is immune to suffering and asking why won't change the situation. Knowing why won't change it, however, you can change and choose to find the message in it all. We couldn't change the cards we were dealt but we did have the choice to make our decision moving forward. Beyond deciding to terminate our pregnancy we have decided to share our story and experience. Talking about any type of pregnancy loss or struggle to get pregnant is taboo to speak of in our society and through abortion into the mix and you might get into a heated discussion but it happens this is life. We figured we'd rather have love and support from friends and family then them left wondering and filling in the blanks themselves. So this is our story. My husband and I have come along way through the first year of our marriage. We've experienced things we hope no one else will have to go through. We became part of the one million people who have an abortion each year. We added to the statistic that states 1 in 10 abortions are made for medical 

reasons. And now we've become some of the few people have decided not to be silent. We don't need people to agree with us or debate with us as to why they think we were wrong. It was a decision that was for us to make as a couple. We do hope people will have a new realization that things aren't always as they seem. We hope people will express compassion to everyone they know and not be to quick to judge others. Do not think you know what you would do in someone else's situation until you are faced with it. Be a better friend and help them if they are in need. Let them know you are thinking about them.  

Always Knew Love

Many ask "how did you decide to choose what you did?" My husband and I have always been on the same page on when comes to choices that affect our life together. We knew our baby girl was given the diagonsis in which if she had made it to full term would have been very short and would have consisted of physical pain for her. We wanted a baby so badly but we knew what we had to do. We knew when we became parents at day one after conception we were responsible for the the welfare and protection of the life inside me. We decided to take on the lifetime of emotional pain ourselves so that our little one would not have to feel one moment of physical pain. Never did we imagine when we elected to get the screening test done we would make the decision to terminate but love is a powerful motivator and will make you bring great heartache upon ourself to spare a loved one from suffering. We feel we were given the opportunity to learn about our baby's condition in order to act upon it out of compassion and love. So that's what we did.  We ended a lifetime of suffering for our baby at 15 weeks and 5 days. Myself nor the baby felt anything. She was never touched my fear, she was never cold, never hungry, never alone and more importantly she always knew love.

Saying Goodbye without being able to say Hello

4:30 AM

Alarm goes off, shower, get dressed, no breakfast allowed today

5:00 AM

Get into car start drive to Louisville

6:00 AM

Stop at McDonald’s to use restroom and grab dear husband breakfast, still no breakfast for me

7:00 AM

Arrive in downtown Louisville. Drive around the block to locate the destination and scope out the protestors. I luckily am a great Googler and had found out that this clinic was very well known for large protests pretty much every day. There are already at least 10 protestors hanging outside of the clinic carrying very disturbing signs. We knew this was going to be quite the experience.

7:15 AM

Start to walk to the clinic. Stopped by the clinic escorts telling us the clinic will not open their doors until 7:30. It’s best to stay in our car to avoid having to listen to protestors scream at you while waiting to get inside. One of the escorts would come up to let us know when she saw the clinic staff arrive.

Waiting the 15 minutes seemed like an eternity. I was very anxious. I had step my upcoming day into four steps. And getting into the clinic past the protestors was step 1.

7:25 AM

Escort comes to get us from our car. We start out from the parking garage to the clinic front doors. As soon as we get down the stairs outside of the garage protestors are standing there waiting for us. They start to rattle off their propaganda, “We can help you. We have other options.” They said they have a facility nearby that can help us save our baby, etc. You get the idea. The escorts attempt to comfort us by saying we don’t have to listen to them and let us know that we almost to the front doors. This continues until we reach the front doors at the clinic where we are greeted by someone opening the door for the incoming patients.

7:30 AM

While waiting in line you can see the protestors through the tinted windows. I could not believe some of the chants or songs I heard. One patient was unlucky; she got followed by a rather intense protestor. He literally screamed in her face the entire way down the sidewalk until she reached the front door.

7:45 AM

Checked in and sitting the waiting room while the rest of the patients get registered.

8:00 AM

All patients are brought back into the facility alone. No friend, husband, family member is allowed back beyond the waiting room doors. We are told to sit in another room with chairs to wait to be called to for our procedures and then to get our lab work and ultrasound done.

8:15 AM

I am first to get my payment taken care of. The clinic director also proceeds to tell me that since I am here for a therapeutic termination that my husband can come back to sit with me until it is time for me to go into the procedure.  This might have been the best news of the day. I wouldn’t be alone sitting waiting and neither would my husband. After getting my payment taken care of, I then got my vitals taken, blood drawn, and ultrasound performed. I was absolutely dreading the ultrasound. I did not want to have to look. Luckily, there was not a screen other than the one for the ultrasound tech.

9:00 AM

My husband got to join me inside the clinic and in a private waiting room where we were separate from the other patients.

9:10 AM

We get to watch a video about the procedure. We then are taken into a counselor’s office to discuss any questions we had, the procedure, and to make sure I was making this choice myself and not anyone else was pressuring me to have this procedure performed.  We then went back to our waiting room until the doctor arrived.

9:45 AM

The doctor had arrived and I was taken back to a private room for to have the first part of the procedure completed. We were lucky to have found out the diagnosis as early as we did. I was just under 16 weeks and between 12 – 16 weeks the procedure was one day. After 16 weeks it turned into a two day procedure.

The doctor spoke to me for a few minutes. She first gave her sentiments that our baby had trisomy 13. She asked why we came traveled to Louisville. She was surprised to hear that there were not any facilities near where we lived. I told her I was glad to have a great ob/gyn practice that was although not able to perform the procedure themselves but were willing to help me do what I wanted and ultimately find this clinic for me.

She then explained the first part of the procedure which I had read a lot about online so I felt prepared. She inserted the laminaria into my cervix which are thin sticks made from a special seaweed material that widen as they absorb moisture from your body. This was probably the most physically painful part of the procedure. Immediately, I had some cramping and really felt uncomfortable. I then went back to waiting room. I was to keep the laminaria in for 2 hours before the second part of the procedure would occur. This was my step 2. Step 2 done and two more to go.

10:00 AM

For the next hour and a half my husband and I hung out in one of the waiting rooms away from the rest of the patients. On this particular day there were around 15 women there getting similar procedures to terminate their pregnancy.  Some were very early on in their pregnancy and would be given medical abortions to stop their pregnancy. And the others were there for surgical abortions which would require surgery including general anesthesia. During this downtime, my husband tried to catch a cat nap while listening to music. I watched a movie to help pass the time and keep my mind from thinking about what was really going on and the pain I was in. I couldn’t bear to cry in the clinic. I put on my strong face and carried that with me for the rest of the day.

11:40 AM

It was time for other patients and me to be moved downstairs to surgery prep. At this time my husband was to go back to the original waiting room with the other people who were there accompanying their respective patients. We all went down stairs and were told to change into gowns. We were given lockers for our belongings. Then we told to move onto our hospital gurney.

Waiting in this cold room was quite a lonely experience and somber. There were 6 other women in the room awaiting their turn for surgery. We were first greeted by the doctor and then the anesthesiologist. We signed that we understood the risks involved with the anesthesia. Then one by one the nurse inserted an arterial catheter for and IV. A few of us including myself were given Pitocin via an IV to help the cervix dilate even more.

One by one were wheeled into the operation room with about 15 – 20 minutes between each patient from what I could estimate without any clock or watch. This was the hardest time for me. I was left with only my thoughts. Nothing to distract me: no noise, no talking, nothing to watch, not even a clock. I spent a majority of the time holding back tears and emotion as the room was so silent you could have heard a pin drop. I actually was so tired due to the lack of sleep over the past few days I kept drifting to sleep for a few seconds and awaking back up. 

12:30 PM

It was finally my turn. The nurse wheeled me into the operating room. I was assisted onto the table and my legs were placed in stirrups. My D&E procedure was ready to be performed. All of the proper tools that assisted the doctor had been put into perfect location and new sterile tools were being opened for me.  The anesthesist said she was going to hook me up to an IV that would make me sleepy. I replied that I was so tired I'm just going to close my eyes. Step three was complete and I was drifting off to sleep for the next ten minutes with the procedure was completed. 

12:50 PM

The next thing I remember was waking up in the recovery room. I vaguely remember being helped off the gurney into the chair in recovery. The only reason I recall that was because I remember the nurse telling my to hold my sanitary napkin in place. Now step four was upon me: get awake and stay awake so I could be released from recovery. I knew the best way I would come out of anesthesia was to talk based on previous experience. So I'm pretty sure I was asking all kinds of questions and might have been chatting with another patient in the room. I felt as if I drunk so who knows what I said. I also remember wanting to get the catheter out of my arm. I was told several times I had to keep it in my arm until I was changed. 

The nurse handed me  Advil and ginger ale once I seemed awake enough. I refused the Advil as I cannot swallow pills but gladly accepted the ginger ale. I was so thirty as I hadn't had more than a few ounces of water upon waking up which at this time was seven hours ago. I was also slightly hungry but the only thing they had to offer was crackers and being gluten free I just asked for more ginger ale. 

1:00 PM

I'm not entirely sure how long I was in recovery but it couldn't have been long. Before I knew it I was being asked to use the restroom and then change back into my clothes. This was quite the experience as their was a step back unit the locker room. I am pretty sure I almost fell over getting back in there. The feeling of having a fun night out of drinking was still present. I successfully changed back into my clothes and then was told to come back to the recovery room so remove the catheter. It felt so great to have this removed. After that the nurse said I seemed so alert, from talking of course, that I was ready to be released. She went over the post-op instructions and gave me a prescription for antibiotics. I was then escorted back up to my husband and we were free to leave. 

1:20 PM 

After a big hug, we were on our way back to our car. The protestors were gone and the city was quiet. We arrived back into the car I immediately took some pain medicine along with a snack and large bottle of water. We were on our   two hour drive back home together and I was no longer pregnant. 

Heartbreaking Decisions

So what now, you might ask? Well the preliminary amnio results were due back 3 days after the test. The lab would do a FISH test. FISH stands for fluorescent in situ hybridization. FISH testing is a relatively new cytogenetic technique that allows a cytogeneticist to determine how many copies of a particular chromosome are present without having to go through all of the steps involved in producing a karyotype. For example, FISH analysis can quickly tell you how many number 13 chromosomes are present, but it cannot tell you anything about the structure of those chromosomes. In our case that is what we needed to know. Was there an excess of the 13^th chromosome in the baby’s DNA. The final results which would be the full karyotype of the chromosome including the structure would not be available for at least 7 -10 days as the cells had to be left to grow.

In the meantime we discussed our options and made our plan A., plan B., etc. Now this is where our story gets to the point of major decision that no one should ever have to go through. Do you carry the baby to full term and hope it can live for a few days, weeks, or months? Or do you terminate the pregnancy to save the baby from suffering if it does make it to full term?

 I think my husband and I made this decision on what we would do depending on the results we were given after the testing the first night after learning about the possibility of the trisomy 13. We had gone into the original screening test saying we wanted to know if there were any problems ahead of time so we could plan accordingly. We bot are engineers who are very scientific and know that advanced in modern medicine have been huge. We determined we would be part of the population that utilizes the advanced testing regardless whether we were “at risk” for anything or not. I t was covered by insurance it was a “no brainer” to us. Never did we imagine we would be one of those couples that were given heartbreaking information that would make us choose.  

We knew that carrying a trisomy 13 baby to full term was already not likely. We knew even more that bringing a trisomy 13 baby into the world was not going to be much of a life for the baby. We didn’t want to bring our child into this world just to suffer. We wanted this baby so badly and we had gone through a lot to even get to this point. But we knew we had to follow our heart if we did receive the some of the worst news that any parent could possibly receive.

Learning things we never thought we would before.

At the genetic counselor’s office we were explained the science of trisomies and the calculated risk for our situation. We originally thought that the screening test meant there was a pretty much 100% chance we had a baby with trisomy 13. She explained that in fact based on my age upon conception, the age I would be at delivery, and the gestational age of the baby our risk was actually only about 1 in 6 or 14%. Hearing this statistic helped us a bit but we knew we wouldn’t be for sure until we went through the level II ultrasound and then the amniocentesis.

The level II ultrasound, which most pregnant women have done around week 20, would be a very detailed ultrasound that looks at the anatomy of the baby. At this time I was only 15 weeks and 2 days but we were hopeful the ultrasound would be able to confirm or deny any of the trisomy 13 soft markers such as polydactyl (extra fingers or toes), clenched hands, clubbed feet, cleft lip/palate, heart defects, enlarged kidneys, and neural tube defects.

The amniocentesis (amnio) is prenatal test where a small amount of the amniotic fluid is removed for testing. The sample of amniotic fluid is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for a full chromosome analysis. The amnio can be done between after 15 weeks. The accuracy is about 99.4%. There is a small risk that an amniocentesis could cause a miscarriage (less than 1%, or approximately 1 in 200 to 1 in 400). But at this point the risk of having the amnio done was less than the risk of us having a baby with a trisomy so we knew we had to go through with the testing. 

We decided to proceed with the ultrasound and then based on those results we would then get the amnio done following the ultrasound. 

What is a trisomy?

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Trisomy 13 occurs in about 1 in 16,000 newborns.

Trisomy means three copies of one chromosome. In this case, for trisomy 13, it would have been three copies of the 13^th chromosome. Trisomies can occur with any chromosome, but often result in miscarriage, rather than live birth. For example, Trisomy 16 is the most common trisomy in human pregnancies, occurring in more than 1% of pregnancies; only those pregnancies, in which some normal cells occur in addition to the trisomic cells, or mosaic trisomy 16, survive. This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common trisomies are trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), trisomy 9, trisomy 8, and trisomy 22.

Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent.  Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Half from the mother and half from the father. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes.