Our Journey Begins


Thursday morning began with the usual exciting anticipation of another OBGYN appointment – this time with the added benefit of a thorough ultrasound and lots of screen time with our little boy. Our routine appointment and scan was expected to be around 40 minutes and take precise measurements of Walter’s growing anatomy. Now at 20 weeks, I began to feel Walter move around and kick just the week before, and I was pleased to find that Wally’s activity level – full of turns, waving hands, and determined yawns, seemed to match the high energy of his father.

Our little boy is growing at a great rate: right on target for his expected due date of October 15, 2014: weighing in at 12 ounces, long limbs for his age, and an already adorable little nose.   As the sonographer took snapshots of Walter’s feet, hands, face, head, leg bones, arm bones, kidneys, and brain, she hovered over his perfectly beating heart (140 BPM) for a good amount of time. I knew there was plenty to look at there, so initially didn’t think much of it. My sonographer pointed out the four distinct chambers of the heart, and this happy little momma assumed the best. Then she looked at the heart a second time, and a third, and again. My ultrasound ended up taking almost an hour and a half, followed by an unusually long anxious wait to speak with the doctor.

My OB sat down with me and was quickly able to pull up my records and sonogram photos from Walter’s ultrasound on her laptop. She began by reviewing each detail of Walter’s anatomy – all those parts of him growing perfectly in size and form. She then advised me that she had two concerns from the ultrasound and would be referring me to a perinatologist (high-risk pregnancy doctor) who will be able to look into her concerns further. These concerns she mentioned consisted of one soft marker (a possible indicator of other issues, but not a defect in itself), and a hard marker (a visible anatomical defect).

The soft marker is a choroid plexus cyst just under 4mm in size, on Walter’s brain. My doctor went on to explain that the cyst has zero effect on a baby’s brain function or development and that the cyst itself does not cause any detriment or problems directly and is likely to resolve by 28 weeks. She told me that 30 – 40% of normal babies have the cysts, and that many adults likely have cysts with no further issues. However, in a small percentage of these babies, the cyst shows a correlation to chromosomal defects when there is another marker present. She noted again that Walter had a perfectly shaped nose, correctly sized forehead and face, open (unclenched) waving hands, long legs, and no other indicators of chromosomal issues. It was merely a concern that we wanted to look further into.

The hard marker was a possible abnormality in Walter’s heart. It was not specified at the time and described as being a difference in size between some veins and arteries. Once again it was a concern, and not a diagnosis – something the perinatologist would look into and evaluate at that time. With these two concerns , my OB encouraged me to get the quadscreen blood-test (which I had previously opted out of) which examines levels of four elements of blood (hormones and proteins) for possible correlations to chromosomal defects. Once again the result from the quadscreen would be a guide, not a diagnosis or certainty.

I left the OB’s office with lab paperwork in hand, the address of the perinatologist, and reassurance from my OB that she would be calling the perinalogist directly to get me in to see her as soon as possible. My world sank. It was full of indicators, possibilities, concern, and correlation – nothing to “lose sleep over”, my doctor advised, but nothing to ignore either. I soon found that reaching Dan at work on base was much more difficult than was originally anticipated, and once I was able to speak with him, I found that actually speaking the words choroid plexus cyst, brain, and heart defect, was far more difficult than hearing them. Thankfully, Dan received my calls in time, and he was able to join me for the visit to the perinatologist that evening.

Initially, I had thought I would be waiting until Monday or Tuesday to see the perinatologist, but my OB’s call seemed to do the trick, and quickly we were headed to a 5:30 pm appointment. When we arrived, we met our perinatologist, who warmly indicated she was glad we could come in and was sending her staff home since it was late. She would be doing the ultrasound herself. As we began, she began the usual doctor small-talk, and then advised that she would be quiet for the rest of the ultrasound so that she could pay close attention to everything she was seeing, and would then answer all of our questions. This ultrasound was much more detailed than our original one, again examining every organ, extremity, and feature on Walter’s little body. When she finished, she pulled over a box of tissues and advised us we were not going to like what we heard, but that it would be okay. In both aspects, she was right.

She told us, that in her opinion, our Walter did not have a chromosomal defect such as Down Syndrome, Trisomy 18, or DiGeorges Syndrome. She said his features were perfect and normal, his other organs showed no problems, and that she felt the choroid plexus cyst was more or less an anomaly. She did acknowledge a possible correlation, and advised that down the road we may consider an amniocentesis for confirmation.

What the perinatologist could diagnose was that Walter has a congenital heart defect known as Tetralogy of Fallot. She told us that the main concerns in the defect are a hole between the lower chambers of the heart, and a narrowed pulmonary artery. She explained that in utero Walter’s body functions just fine: his body receives all of the oxygen rich blood it needs, and has no effect on his growth or development. Because my body provides oxygen to Walter through his umbilical cord, he would not face any problems until birth when he is breathing on his own. Essentially, the narrowed artery will not allow Walters heart to supply enough oxygenized blood to his body on his own. The result is what is commonly referred to as a “blue baby”.   She told us that the surgery to correct the defect is highly successful and well – studied. We were told how “Tets babies” post-surgery grow up to live normal lives: smart, big, and active. Questions of where I would deliver, and when this surgery would occur still lingered, but she was able to give us hope, solace, and a concrete diagnosis we could research.

It was 7:30pm by the time we left the perinatologist’s office, and she explained that I would need to meet with the Fetal Heart Program team at DC Children’s National Hospital for an echocardiogram, and further evaluation of Walter’s condition. She also indicated that she was calling the head fetal cardiologist at Children’s Hospital at home tonight to see how soon they could see us.

On our ride home we were happy. I never thought that a confirmation of a heart defect requiring open-heart surgery in our unborn child could give me such relief, but it did. We had words to look up, answers to be had, a path to follow, and all with an expert medical team as our guide. Best of all, we understood that Walter’s condition did not come with any increased risk of pre-term labor, and after his initial surgery he would be like any other little boy. We love him so much already, and our biggest fear was that we would never have the chance to meet him, or maybe know him for only moments. There are no guarantees in life, but with odds in our favor and God guiding the hands of our doctors, we have every reason to be joyful. Still, there were many unanswered questions and fears, and despite what my OB advised, I did lose sleep that night. It wouldn’t be until meeting with the Fetal Heart Team at DC Children’s that we would have a clearer picture of what Walter’s future holds.

Walter's face at 20 weeks
Walter’s face at 20 weeks

 

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15 thoughts on “Our Journey Begins

  1. Such a beautifully written and clear picture of your first day on the journey to heal Wally. Before the battle we gather the facts and pray! I love you!

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  2. Hi Frances – all of the information you’ve provided greatly reassured me that Walter really will be just fine. Having worked many years in OB as a nurse practitioner and examining countless obstetrical patients the one thing that I realized was that having a good perinatologist really helps. I had a couple of patients whose babies were diagnosed early on with a Choroid Plexus Cyst. During their 3rd trimesters the repeat ultrasound in both cases revealed a complete resolution of the cyst. One patient who was near and dear to my heart who was diagnosed with the cyst, had an early amniocentesis whose result showed a trisomy at the time but the perinatalogist that was involved with the case questioned the amino result and encouraged a second amino by a different provider. The second result was normal. The baby was born without any problems. I stayed in touch with that mom and the baby reached all of her developmental stages appropriately and went on to become a stellar student, graduating the university with honors and is just an all around amazing and selfess, giving person today. I do belive that for sure Walter will be a very special child that will bring so much love to you that your life will never have been so enriched. Hugs to your whole family.

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    • Joanne, you always have the perfect insights and your notes (and email) are so beautiful. This information, in particular, give us even more insight and helps to have the “personal” medical touch with your experience. Thank you, thank you – sending love your way, and missing you and your awesome family.

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  3. You are blessed to have so much loving support, an abiding faith, access to the best medical help,and a clear vision of the importance of Walter in God’s plan for you and Dan. Will be praying and sending you loving thoughts.

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  4. Dearest Frances I must be a copycat in saying that your post was beautifully written. Please know that your faith will bring you through. Needless to say you are in our hearts and prayers

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  5. Frances and Dan,
    Your unconditional love and joy for Walter rings loud and clear in every beautiful word! You both are going to make amazing parents! We’re praying for you and little Walter – God has incredible plans for him, just trust in Him. 🙂
    God bless

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  6. Thank you for the detailed description of the beginning of this jornery. We will be following you with our hearts and prayers. You will not be alone. You have so many who love you, Dan and Wally.

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