Anastasia's Heart Journey

Our journey began during our 20 week ultrasound, which was a routine scan to determine gender, general development of organs, and overall health of the baby.  Everything appeared to be “normal”; however, we were told that our little bundle of joy was not in a favorable position and the heart could not be fully visualized.  We were assured that this is typical and were advised to return in 3 weeks for a repeat scan.
Feeling confident that all would be well, I showed up for my appointment, sans Stephen, fully expecting a quick scan for confirmation that everything was in perfect order.   An hour later I was told that something was amiss with the position of the heart in our baby girl’s chest and I would need to come back in 4 weeks for another look.  A few possibilities were mentioned as the cause of the positioning, including the possibility of nothing at all.
After a very long month of worrying we returned for our repeat scan, at which time we were told that the baby appeared to have a condition called Tetralogy of Fallot but we would need to see a pediatric cardiologist for a confirmation of diagnosis.  It was also mentioned that the baby’s wrists appeared to be in a fixed position which could signify a chromosomal problem.

A week later we were worked in to see a cardiologist at Vanderbilt.  After a fetal echocardiogram Tetralogy of Fallot was ruled out but a definitive diagnosis could not be established.  It was evident that the right atrium was enlarged but the reason could not be determined.  We were also told that there might be a hole in the heart (Ventricular Septal Defect, or “VSD”) but due to the poor positioning of the baby that could not be determined either (you see a theme here?).  We were advised to come back in 6 weeks for a repeat echo. 

In the mean time we had an amniocentesis to check for chromosomal abnormalities (trisomy 13, 18 and Di George to be exact), which came back negative.  The hands still appeared to be in a position that they referred to as radial club hands, but we would not know the severity or cause until birth.  It could be a birth defect that can be corrected over time or could be a neurological condition.
In mid December we had a repeat fetal echo, at which point a diagnosis was finally made (well, somewhat of a diagnosis anyway).  They were able to determine that our baby girl had a significant VSD and enlarged right chamber.  Due to the size of the VSD the pediatric cardiologist anticipated the necessity of open heart surgery at 3-4 months of age.  He also suspected that the enlarged chamber is due to the vessels being attached improperly (thank goodness that was not the case).

On January 16, 2011, at 11:48 pm, our beautiful little girl, Anastasia Alexia, was born via c-section.  It was a very exciting night, but also a very scary one.  Right before she was delivered, they made a call to the NICU team that was standing by.  About 6 people quickly entered the room for the big event.  She cried immediately upon entering the world, but it took them what seemed like forever to come and talk to us about her condition.  She was in the room with us, but they were working on her out of our eye shot, which was very unnerving!
The neonatologist finally came over (without the baby) to tell us that she was breathing well on her own, was stable, but was having a bit of an issue with her O2 so they would be taking her to the NICU.  Before leaving us he said, oh, before bringing her over, there is one more thing, she was born without thumbs.  WHAT?  To this day it amazes me that this was never discovered on one of the million ultrasounds that I had.  It was devastating news to receive laying on the OR table.  They finally brought her over to us for about 30 seconds, and then whisked her away.

They ran a battery of tests on Anastasia and luckily ruled out some really scary stuff.  After the first echo (that was done by a resident in the middle of the night) they said that they didn't think her heart condition was very significant.  The next day; however, they informed us that they had done a repeat echo which showed a significant VSD that would likely need to be repaired.  They also told us that there appeared to be other issue with the heart (due to the enlarged size they were thinking that she had a vessel problem) but could not be sure at this point.  She stayed in the NICU 4 days and was released to go home when I did.  They strongly suspected that she had Holt-Oram Syndrome, which was confirmed a few weeks later.
Shortly after turning 6 weeks old she began to deteriorate at lightning speed.   By 8 weeks she was in congestive heart failure and was one sick little girl.  After 5 days in the hospital, we brought her home with a feeding tube and lots of medication to help her while she waited for surgery.

At eleven and a half weeks old Annie had open heart surgery.  She had a very large VSD, very large ASD (that we didn't even know about even though it was as large as the VSD), and PDA.  All were successfully closed with just a small “residual” VSD.  Unfortunately, Annie had what appeared to be a case of malignant hyperthermia, which is a very rare anesthesia complication that is often fatal.  Luckily the anesthesiologist caught it in time and administered the “rescue” drug which stopped her rapid temperature increase (it got up to 104.1).  Poor baby girl also had to be put on ice packs to help keep her temperature down.

Right after surgery she was dependent on an external pacemaker to keep her heart beating in rhythm.  We were hopeful that this would correct itself, but in the end she had to have a pacemaker placed (a week after her OHS).  A day after her pacemaker surgery she was sprung from the PICU to the regular cardiac floor.  By the next day; however, she developed a serious infection and was moved back to the PICU.  There was a flurry of action and a lot of discussion as to what to do.  The general surgeons wanted to take the pacemaker out ASAP but the cardiothoracic surgeon said no way (apparently it was very difficult to place), and wanted to wait and see if the antibiotics would work.  They loaded her up with 3 different ones, not knowing what infection she had, but hoping that it wasn’t one of the deadly ones.  She responded well and quickly to the antibiotics, so she kept the pacemaker!  She was released from the hospital a few days later.

Annie has had some ups and downs over the past year, including 2 more trips to the operating room for 5 hour surgeries (pollicization).  She uses her pacemaker very little (only 3.6%) so it functions as a safety net for her in very rare instances.  She is still on a diuretic for diastolic dysfunction, but we are hopeful that after her next cardiac appointment that can be discontinued.

The past 18 months have been some of the toughest in my life, but all I have to do is look at my sweet princess and somehow all of the bad memories fade.  She is truly a special gift from God! 

Right After OHS:

What a Difference...16 Months Later:



  1. Thank you for sharing Annie's amazing story and joining my blog linking event. Made me tear up a little too. What a sweet little girl. Absolutely precious. Praying for your family!

  2. I applaud your bravery! I too have Holt Oram Syndrome, as did my mother, but we were unaware it was a genetic condition that could be passed along...until my son was born (nearly 20 years ago). I have very little expression, my son was very lucky and had only a small VSD that did not require any surgery. He also had a pollicization but only on the one hand that did not have a thumb. The left hand has a small, mostly non-functional thumb but we chose not to have additional surgery. I am so glad everything has turned out well for you and your daughter.