This Week with Trisomy 18

This week and today has been one of difficulty to put it mildly, but the Lord continues to be so faithful, and fill me with His peace. Several weeks ago I was so blessed when I learned that God had healed my little Zane's heart. The joy of that news was such an incredible blessing to me. However, as this week and particularly today's doctor's appointment drew near I began to get a little anxious as I do before each doctor's appointment since finding out about Zane's condition.

Some people have been asking, "If the heart is okay then do they still think he will not survive, and why?" From what I understand the addition of a chromosome on the 18th pairing will cause Trisomy 18 babies to be unable to mentally process vital activities such as breathing, eating, etc. once they are outside of the uterus. While these babies are safe in mommy's tummy the placenta and umbilical cord do that work for them. Having an understanding that just because the heart was okay didn't mean we were out of the woods, I knew this appointment may be a bit difficult.

So what did we learn today? The good news is they now feel very confident that Zane does not have a clubbed foot which is wonderful! Also, his cystic hygroma at the back of the neck and spine is almost completely resolved. They were also able to rule out a cleft lip, which is great! However one of my concerns, that he was not developing as I haven't gained weight in the past month, was confirmed today. Currently Zane is two weeks behind where he should be as far as his size goes, which isn't a great sign. The issue that I learned about today that seems more disconcerting is Zane's umbilical cord. As I have mentioned previously, there is a cystic mass in his umbilical cord, as well as having only one artery where there should be two. Today I learned that there are several cystic masses now in the umbilical cord and they are quite large. When the doctor pointed out to me where the mass was, and what I was looking at my heart sank. The largest cyst in his umbilical cord is about equal to the size of the width of Zane's body currently. I am amazed and blessed that Zane is still alive and fighting after seeing so many of those masses, so large clogging up his life source. The concern at this point is that I am very likely to miscarry because if the cysts continue to grow they will not leave room for the nutrients to move freely through the cord to Zane. Currently the amount of flow passing the cysts is incredibly small but still working. My little man needs prayer for these cysts to miraculously resolve.

I have to admit that today was very difficult, and definitely sobering. He is my little boy, and it just didn't look good. He is so precious, he has a little tiny jaw, tiny clenched fists, and low set ears but is still so adorable even on ultrasound. My heart broke as I longed to save him, and I couldn't keep from feeling helpless for a moment. However, the Lord reminded me gently "I am the one that raises the dead, I am the one that heals holes in a tiny baby's heart, if anyone can save Zane it will be Me." I do not know what the Lord has for my baby boy, but I know no matter His plan, it is far better than anything I could do on my own. I much rather trust Him to save Zane, than for it to be solely in my hands. Also, I felt so blessed today by the experience of that particular ultrasound before I received the update on what was being seen. I got to watch him in 3D real time, kind of like watching a video of him squirm around. We got lots of great pictures of him in 3D, and while we were on regular ultrasound they viewed his little feet and got him to move around. It was so much fun to watch his little toes wiggle and his teeny feet kicking back and forth. I continue to be thankful for the time that i have been blessed with to feel Zane alive inside of me, for every second I hear his heart pitter patter, and for each moment I get to see him on ultrasound. Please continue to pray for Zane as he continues to fight this big battle each day. Thank you all, and be blessed!

Trisomy 18 Has Nothing on God

Oh my God you have overwhelmed me! Though i have been found unfaithful, destitute in my weakness, and so undeserving, still You love me, You allow Your mercy and grace to abound, You remain faithful! You have filled me with a DIVINE joy and pleasure unmatched by anything this world has to offer! I am swept away by a raging river of Your love!

Over the past few weeks we have learned that my baby is a boy which makes him a Zane Owen! Zane means God's gracious gift, and Owen means young warrior! The doctors were seeing VSD (a hole in the heart), possible pericardial fluid (abnormal fluid around the heart), and were concerned about more severe defects such as transposition. Today I was seen at Duke Hospital to receive a fetal echocardiogram for a diagnosis of Zane's heart condition(s).

I am by no means a sonographer or a cardiologist. However, my experience in sitting through several ultrasounds has moderately trained my eyes to what the fetal heart should look like. Several weeks ago as they looked at Zane's heart, before anyone said a word I could tell something was wrong. I did not know what it was, but I could tell it did not look the way it should, and that is when I was informed of the VSD and suspicion for further defects. Today as Zane came up on the monitor I looked at his little heart for so long, and to me it looked completely normal, a drastic change from the previous ultrasound. However, I had to wait for the doctors to tell me what they were seeing. I assumed I was probably not seeing what I thought I was and continued to brace myself for the worst.

After over an hour of looking and a few minutes of measuring the doctor gave me the best news of my pregnancy to date! Zane's heart is completely normal! That is nothing less than a miracle straight from Zane's Daddy and mine that is smiling down on us from heaven. I really believe the Lord healed and corrected sweet Zane's heart over the past few weeks. The only problem that was seen was that the heart was measuring a little small for my gestation, but the heart was perfectly proportional and looks as though it will continue to grow correctly. Zane, like every other baby, will just need as much time as possible to develop before I am holding him in my arms. I am overwhelmed by God's love through this miracle, He is so so good to us!

The Trisomy Journey Continues

I would like to start with a verse..
Psalm 139: 13-16

For you formed my inward parts; you knitted me together in my mother's womb. I praise you, for I am fearfully and wonderfully made. Wonderful are your works; my soul knows it very well. My frame was not hidden from you, when I was being made in secret, intricately woven in the depths of the earth. Your eyes saw my unformed substance; in your book were written, every one of them, the days that were formed for me, when as yet there was none of them. 

The last week was difficult to say the least but the Lord is soo faithful. Three days in the past week I had contractions that only stopped for a few hours in that time period. Doctors had attempted an amniocentesis the week prior but were unsuccessful because I began contracting during the procedure and they were unable to get the needle through the wall of the uterus. Basically the needle would push the wall all the way to the bottom and never go through. As many of you may know, a side effect of amniocentesis is miscarriage when it is attempted before 20wks. It was in these days of contracting that I did not feel the baby move. I was also receiving messages from someone I have known for quite a while that they were praying the baby would die, and that I was selfish to want to bring this child into the world. Finally because the contractions had  not let up I called the on-call doctor, and she suggested that it was probable that I was miscarrying . She said it was too early for me to be seen in labor and delivery, and if I saw blood i needed to go to the ER. Otherwise I could setup an appointment Monday with specialists I am working with through this pregnancy. 

So how was He faithful in this time? He has surrounded me with so much encouragement. On Sunday I went to a man named David who has been one of the major spiritual influences in my life and he and one other prayed for the baby. Then my pastor, Marc, allowed me to come in front of the church and share my story, and he prayed over me. After that we had a time of fellowship and so many surrounded me to encourage and pray for me. One man, not knowing of the messages I had received, began praying that God would come against anything evil spoken over this child, and I was completely broken by God's love to send him my way with that prayer. He just used one of His children to affirm to me in such a time of need that He has a deep and unshakable love for each child. 

The blessing did not stop there, late Sunday night my sweet little one began to move inside of me and tears of joy just streamed down my face! He is so faithful! The next morning my sister, and best friend, who is expecting my precious niece, Kayleigh, had an appointment and she was kind enough to let me come along with her and have the doctors check for a heartbeat just to make sure everything was okay. She would not have had it any other way, she is really an amazing woman. That morning we heard Kayleigh and my baby's heartbeats, both strong in the 150s! Then a church member that has already gone above and beyond to increase awareness of my baby's situation and the need for prayer, blessed me once again. Having considered the pain of not knowing whether your child is alive inside of you, this person went and bought me a pink stethoscope so that as I progress, in those times of concern, I will now be able to stop and listen and have peace. 

God is so faithful. In such a time of adversity He overwhelms me with peace, and surrounds me with His love by speaking to me through His children. I am so grateful for everyone's prayers and obedience to His calling, and I pray for blessings over all of you. My sister and I will be headed to an ultrasound appointment tomorrow, we hope to find out the sex and the doctors will be trying to gauge the extent of heart defects that the baby has. Please continue to pray, each prayer is such a treasure to me. Be blessed!

How I Have Been Blessed in This Time

One night I was sitting alone in my room, shortly after hearing the news about my baby's chances of having trisomy 18. I was on my knees in the floor, feeling as though the weight of the world was resting on my shoulders. I felt as though all sense of joy had left me. When I am really happy I sing to myself, often without noticing that I'm doing it. In that moment on that particular evening I couldn't remember the last time I caught my self singing, I had lost my song. Finally, the biggest weight of all was the question of whether this was somehow punishment for the things I had done wrong in my life. I try to live a lifestyle that is honoring to the Lord, but have often failed. I began weeping, and begging the Lord for mercy over my baby's life, asking for a miracle. Then in a few final words I asked that God would give me peace, and speak to me directly through what I would read next in scripture.

I tend to read the bible in order, more strategically, and not so much picking random pages each day. On that day I was in Isaiah, and thus far it had focused on God's judgement and wrath, which did not really inspire much confidence that the next chapter would lift my spirits. However, as only God can time things, the timing was perfect. My next chapter was Isaiah 12, and it was unimaginably encouraging. Literally each word touched me, and applied to exactly where my heart was. I would encourage anyone to read it to see how fitting it was. It has been one of the biggest blessings, a sort of calm in this storm I have found myself in the center of.

On a separate note, I am 17 weeks today and had another doctor's appointment. It was my first time meeting this doctor, and he was amazing, possibly the best OB I have met thus far, and I have met quite a few over the past few years. The biggest blessing of this appointment was hearing that sweet little heart beat, so baby has made it through another week, and another day. Please continue you your prayers, it is such a powerful tool that we have all been blessed with.

Life since learning about Trisomy 18

Since I learned that my child has a greater than 90% chance of having Trisomy 18 my life has been unimaginably different. I found that from day one to today my attitude, as well as my understanding continues to change. 

After the first appointment, when I had almost no understanding of what was really going on, from my perspective having a baby with Down's Syndrome would have been a blessing. Now I am praying and hoping that I will at least have the opportunity to hold my child. The doctor's are not optimistic at all and I am a realist, but I have also seen the miraculous healing power of God firsthand. From what I understand they do not expect my baby to survive very long after the birth, if he/she makes it that far at all. If this baby lives it will be purely by the grace and power of God. 

While I believe this news is hard to handle for anyone that is faced with it. I believe in most cases mothers are the most severely impacted by an indication that their child has Trisomy 18. It impacts so many, especially the fathers, but most mothers have an instant connection with their child as soon as they know they've conceived. As I sit through each ultrasound I know that this child is as much my child as Isabella and David are. My love for this child is just as strong as it is for my others, and continues to grow with every kick, every ultrasound, and every passing day. 

What amazes me most about this experience is the many questions I have been faced with and will continue to face. First was life or death, termination or continuation of my child's life. That was the easy one for me. I have an irreplaceable sense of peace knowing that this is in God's hands and knowing that His will is best. I know whatever the outcome I will have peace. 

Amniocentesis was the next dilemma I was faced with. It has a 0.5% risk of miscarriage but without it doctors would have a more difficult time knowing the best way to proceed once the baby is born. Should they do comfort care, or try to operate and repair the baby's heart. My struggle with this decision is the risk, 0.5% may not seem too major but I always seem to be the exception and not the rule with medical procedures. Kind of what can go wrong will go wrong. A prime example would be how the first attempt to do the amnio. failed because my uterus started contracting during the procedure and the doctor was unable to get the needle to breakthrough the uterine wall. Now I am left contemplating whether or not I should allow them a second attempt.

There are other questions that are more ominous, questions which I usually prefer not to think about. I know that the Lord can do a miracle and completely save and heal this baby, but I do not know whether or not that is what He will do. So I am faced with wondering if I should choose to try and treat aggressively or to give the baby comfort care, and worst of all wondering if in a few months I will be responsible for handling funeral arrangements for my child. The thought of this is unbearable, and immediately weighs me down when it enters my mind. I don't want to lose my baby, I really, really don't. 

I cry once everyday, but the hardest days are those when the baby doesn't move, or when I have a doctor's appointment, or when I have contractions. Never knowing whether your child is dead or alive is so incredibly hard, you cannot even put it into words. My breath catches before each ultrasound, and I stare at the screen without blinking searching for the heartbeat or some minor movement. Once I know the baby is okay I am left fighting back, what seems like, gallons of tears and intense nausea. The only way I think people would be able to begin to understand the emotions that I and many others face in this situation is to be a parent themselves. As a parent just imagine if you knew something was horribly wrong with your child, and the next phone call you received would be a doctor telling you if your child had lived or died. The intensity of that emotion is what I face each day, and is at it's strongest on the really hard days. 

Although I cry everyday, I also have joy. The Lord is so gracious, he gives me continued peace, and a reason to smile each day. I cannot wait to see whose lives he touches with my baby's life, but I know that some and possibly many will be deeply impacted by my sweet little baby. I have another ultrasound in 2 weeks and I will post an update then! Please continue to pray and believe in His faithfulness and sovereignty!

What is Trisomy 18???

So what is Trisomy 18? When I first heard these words I could not remember them five minutes later. This is just not something that we hear about commonly, even though it affects so many around us. This genetic defect, also known as Edward’s Syndrome, is a chromosomal defect that occurs during conception. It is caused by either the egg or the sperm not splitting properly, and creating an extra chromosome in the eighteenth pairing where there should only be two.

It sounds harmless enough, but it can have some very devastating impacts on the developing fetus. Some effects of this defect include mental retardation, clubbed limbs, severe heart defects, low birth weight, a large cystic mass at the back of the neck, and much more. The prognosis for babies with Edward’s Syndrome is extremely poor; 90% do not survive past their first year, 50% do not survive past the first day, and less than 10% are able to survive up to adolescence. Obstetricians offer first trimester screenings to expectant mothers to find if their baby is showing an indicator for this defect or any others. A woman under the age of 35 is highly unlikely to have positive results, and before the screening most women are given odds of 1 in 10,000 that their child will have a genetic defect. Below is a site for the Trisomy 18 foundation, a resource that has been very useful for me.

 Trisomy 18 Foundation

How This Trisomy 18 Journey Began

I found out on a cool day in January, 2011 that my husband and I were expecting our third little edition. Our relationship had been an uphill battle almost since the beginning. It was my love for my husband and my faith in God that kept me, and keeps me committed to this marriage. He and I had been doing well, and I felt that we were finally working through the major issues, but it was about the same time that i became pregnant with this baby that things started on a fast downhill slope. It was a few days after I told my husband about the baby that he informed he was feeling divorce would be the best thing. Ours is an incredibly long story that has us currently living separately, and me adamantly committed to the well-being of my children, as well as praying for and believing in God's power to make the changes necessary to bring reconciliation to this marriage.

However, this is not our story, it is our baby's. I had decided to have the first trimester screening for the first time with this child. I hadn't done it with my other two, but that was because I was unaware that it would include an extra ultrasound! I love ultrasounds and was excited to have any chance to preview my baby before his or her debut into the world. I never anticipated that the tests would return any abnormal results.

I was actually told by the ultra sound tech. on the day of my screening (2 weeks after the blood tests) that I probably had nothing to worry about because I was so young. (I am in my early 20s) I like most other women was given 1 in 10,000 odds that my baby would have a genetic defect, any genetic defect. I sat for 45mins with my dad near by, watching my little baby move around, its little heart beating a strong rate of 169BPM. It was only after having this time to become even more attached to my sweet child that a doctor I was meeting for the first time approached in my patient room saying, "I have horrible news."

At first I assumed the doctor was joking b/c I was so unsuspecting, but as I studied his face I became acutely aware that his distress was genuine. He talked for several minutes explaining my results and what my baby was indicating. The only words I remember hearing were "lethal" and "incompatible w/ life", I believe that I was literally in a mild stage of shock. There was one last thing he spoke about that I will never forget, the word "termination" was what he used. He suggested I ended my baby's life so strongly, he all but told me it was what I should do. The most I spoke in that brief meeting was to say, "I will keep my baby. I will not have an abortion" and when he hinted that I would change my mind, I responded with this, "I don't believe that this is my choice. I have strong convictions about this and I will not change my mind."


A few days later I sat down with perinatal specialists and genetic counselors who helped me to understand everything that I was told and could not take in a few days prior. My baby had a cystic hygroma (fluid at the back of the neck) measuring 8mm, a clenched fist, a clubbed foot, one artery in the umbilical cord where there should be two, a cystic mass in the umbilical cord, and they were suspicious of HYDROPS (fluid in the abdomen, heart, and lungs). My blood tests that screen HCG levels and PAPPA levels had strongly indicated Trisomy 18 or Trisomy 13. Everything combined, the doctors felt very confident that my baby had Trisomy 18. I had gone from odds of 1 in 10,000 to 1 in less than 2 that my baby has trisomy 18.


At this point I know that all results remain unchanged. The baby still has the hygroma, refuses to open that little hand, has a clubbed foot, one artery in the umbilical cord, and is adamant about not letting all of us know whether we are seeing a he or a she, a Zane Owen or a Michaela Brianna. The changes and new information I have received have not at all resembled good news. The cystic mass in the umbilical cord has increased in size and we now know that the baby has a Ventricular Septal Defect (VSD). The doctors are highly suspicious of more extensive problems with the heart, as am I, but they were unable to get the necessary angle to tell me with certainty what they were looking at. I am not an expert by any means, but I have seen enough ultrasounds to know what those little fast beating hearts are supposed to look like. I have always been able to see each chamber, but with my child I just could not see those chambers. Before doctors told me of the heart defect I had told my sister that something was wrong with the heart. I did not know what it was, I could just see something was wrong.


On that day I agreed to allow them to attempt an amniocentesis which would give the baby a true diagnosis. I had been strongly opposed to this because of the slight risk of miscarriage with the test, but with this new information the doctors felt that having a diagnosis would be extremely beneficial in coming up with a birth plan. Helping all of us make a decision on whether comfort care would be best, or if the baby would be a candidate for the necessary heart surgery. The amnio. didn't work and was extremely uncomfortable.


Today I would ask that any reading this pray diligently for God's will in this baby's life, and for His continued peace to fill my heart. Pray that He will give me discernment and wisdom in making the many life or death decisions that I am faced with that directly affect my baby. I am currently reconsidering the amnio. and I am scheduled for another ultrasound in two weeks, and a fetal echocardiogram when I reach 22wks gestation.