Heart of the Matter, Part 2

The Echo

A few weeks ago I finally had the fetal echo(cardiogram) that I mentioned in my first Heart of the Matter post. The echo is simply a sonogram in which they look at the heart in detail.

My wonderful boyfriend was able to make it to this appointment, and I was very thankful for that. Since he lives so far away, this is only the second appointment he has been to. We knew the doctor could potentially tell us serious news about our daughter's heart, so there was a lot of anxiety walking into the ultrasound room....now a very familiar place to me.

As usual the technician began the appointment by squeezing the warm gel onto my ever growing baby bump. She picked up the wand, and in a few seconds little Pippa appeared up on the screen. The technician did her best to make us comfortable as she went about her assessment. The small talk was not enough to keep me from wondering what every click she made meant.

After about a half hour of taking all sorts of pictures and videos of our girl's heart, she left the room to get the doctor. He came in and picked up the wand, then began repeating a lot of the same things the technician did. As he was doing so, he and the technician exchanged medical talk that was beyond my understanding.

21 week sonogram... Pippa salutes!

Suddenly, I became very flush and lightheaded. I am not sure if it was the anxiety of the appointment, the now forty-five minutes of pushing and prodding by the sonogram wand, Pippa's kicks and punches back at the wand which was apparently disturbing her, or all the heat being generated by the equipment, but I felt as if I was about to either vomit or pass-out. The technician obviously noticed my discomfort, which I was trying to hide so the doctor could finish up. She began to fan me with a folder she was holding and I rolled onto my side a bit, which marginally alleviated some of my dizziness.

The doctor finished up quickly, and I slowly began to regain my composure. He then started to tell us what he had seen. Unfortunately, he didn't have any conclusive answers. The doctor told us he was suspicious based on what he saw that there was a heart defect, but the heart was still too small for him to be sure and make a definite diagnosis. He referred us to a pediatric cardiologist, and said we should schedule with him in approximately three weeks.

That appointment was on Friday.

Another Echo

It progressed very similarly to the first echo, although I was alone at this appointment. The faint feeling even returned about thirty to forty minutes into the echo. From this I conclude that anything over a half hour is too long for a sonogram. Luckily this time there was a tower fan in the room, and once this was turned on and pointed directly at me I felt tremendously better.

Unlike the first exam, however, the cardiologist had answers for me about what is going on with Pippa's heart. It was not the news I was hoping for, but the news I had been bracing myself for.

The Diagnosis

The doctor told me that based on what he saw, he is quite certain that Piper's heart has an AV Canal defect. As I mentioned in the first Heart of the Matter post, this is the most common heart defect in babies with Down syndrome. What this means is the septum of the heart (the part dividing the two left chambers and the two right chambers) is not complete. Also, there should be two separate valves between the top and bottom chambers (the atria and the ventricles), but due to the incomplete septum there is just one large valve. This defect allows for co-mingling of the blood returning from the body and the blood returning from the lungs.

 

Normal Four-Chamber Heart
 



Heart with AV Canal Defect



Pippa will need open heart surgery around two to six months in order to fix this defect, but the doctor explained that the defect will not affect the rest of my pregnancy or her birth. The doctor also assured me that the surgery has an extremely high success rate, and her Down syndrome will not increase the risk of the surgery.

Even so, I cannot help but be worried about what the future holds. I am trying to just relax and take it one day at a time, but the thought of my little girl undergoing such a serious surgery at such a young age terrifies me. I know that Piper Grace is a fighter already though, and she is strong like her momma. In the meantime, all I can do is stay calm and carry on.

Heart of the Matter

Walking into my most recent doctor’s appointment all I could think was, “What if he sees something wrong? Will my baby need to have open heart surgery? Will she be okay….? Will her heart be strong enough for her to make it full-term and through delivery?”

Cause for Concern

Now I wasn’t just being crazy and worrying for no reason. After finding out my daughter’s diagnosis, I started looking up all the information I could as what it (Down syndrome) would actually mean for her life. Sadly, most of what I knew about Down syndrome is what I learned from TV shows. I knew certain physical characteristics such as upward slanted eyes and shorter statures, and of course I was aware of the developmental delays. The more I read, the more concerned I became. Not about the challenges of raising a child with DS, but about her health in general.

One of the more serious issues she could possibly face is a heart defect. Approximately 50% of all children with Down syndrome have some type of heart problem, the most common being an AV canal defect (atrioventrucular septal defect). This is basically a hole in the heart between two of the chambers, an atria and a ventricle. Holes can occur in other places within the heart as well, and each is termed differently (ASD, or atrial septal defects; VSD, or ventricular septal defect; and PSD, or patent ductus arteriosus). The treatment depends on the size of the hole. Children may need surgery, or if the defect is minor then it is monitored as the hole may close on its own.

Since my doctors are well aware of the possible congenital heart problems associated with Down syndrome, they are doing all they can to determine prenatally if there are any complications. Around 16 weeks, I had an appointment for a Level 2 ultrasound, where they looked at all my baby’s anatomy in detail to ensure everything is developing as it should be. More importantly they were looking at the heart for any indications of problems. As I revealed in the opening sentence of this post, I can’t even begin to describe how nervous I was walking into that appointment. I knew so much of my daughter’s future could be based on what the doctor saw that day.

The Appointment

So there I was, laying on the table with my shirt pulled up. The technician came in and squeezed a blob of blue goo onto my little bump. Within seconds, I saw my little peanut up on the screen. I was simply amazed at the sight and was filled with “warm fuzzies". I tried my best to keep those feelings and not let my nervousness overtake me as she started the diagnostic portion of the ultrasound. She did some of the same wiggling, clicking, and measuring that she did at my 12 week appointment, but this time her reactions were much more what I had been hoping for. The arms and legs were proportionally as they should be. There were ten fingers and ten toes. There were two itty bitty kidneys. The facial structure was developing normally. Then she zoomed in for a look at my little girl’s heart, and I could see the tiny muscle pumping away. It looked beautiful to me, but of course I had no idea what a defect would look like.

I glanced at the technician, but she had a poker face this time and I could not gauge by her reaction what she was seeing. She gently excused herself, and momentarily returned with the doctor. He scooted the stool over to the table where I was laying and picked up the little wand that determined so much of the future. The wiggling commenced and soon he was zoomed in on the heart. He clicked a couple times, froze the picture, and began to explain what was on the screen. The doctor pointed out the valves in the heart, and noted that they fully touched each other during this point of the heart beat (which the image was paused on). That was a great thing!!

 



Pippa at 16 weeks

 Sigh of Relief

Based on the ultrasound, the chances of a major heart defect are greatly reduced. The doctor reminded me that the heart is still quite small, and they weren’t able to see everything yet. I will have one of these detailed ultrasounds at every appointment (about once a month), and around 24 weeks the doctor will perform a fetal echo in order to listen for any murmurs that may not be visible on the ultrasound. Although there is still a possibility that my baby’s heart will have an issue, I know I will be much less nervous walking into these future appointments. The bright side to all these appointments is that I have the opportunuity to see my little nugget every time!