Friday, February 17, 2012

Gray's Anatomy

On Valentines Day, 2012, our doctors confirmed a bit of tragic irony developing in our baby's breast: a broken heart.

The current official diagnosis is that our baby has a Double Outlet Right Ventricle (DORV), a very rare complication with complete Ventricular Septal Deviation (VSD), with various existing and potential valve issues. Simply put, the left ventricle of his heart didn't develop properly (that's the VSD), and both the aorta and pulmonary valve connect to the right side (that's the DORV). Thus instead of non-oxygenated blood pumping into one side and oxygenated blood pumping out the other, it's all mixed up together in our boy. Our doctors tell us this will essentially make it close to impossible for his lungs to oxygenate his blood without surgical intervention. Although this is a permanent condition, with a series of surgeries over the course of his early years, he has very good chances of being able to live a fairly normal, active, healthy life.

As complicated as it sounded to us and can seem, a broken heart really is very simple. Here are two very different ways to think about this. We hope they both help.

Keep It Simple
If medical jargon ain't your thing, or when it just seems to be getting too complicated to make sense of, what we find most helpful, and perhaps most important to remember, is that, as painful as a broken heart can feel, our baby won't feel it, at the very least until he's born. And, even after that, he'll go years without any inclination of what the pros are saying. If he can do it, we can do it too :) If this is your style, keep in mind that it is a wonderful miracle he has made it this far into our lives, and every moment we have with him--the kicks, the food cravings, the visible growth on mommy's belly--are amazingly beautiful little gifts. Then, run (or just click) away from here and read the other news in our growing family's chronicle.

Embrace Modern Medicine
If, on the other hand, you find solace in knowing the inner workings of our bodies, the remainder of this page shows the medical information we've received from our doctors and found online since the initial day of diagnosis (February 14th). If you find the scientific regalia helpful in navigating what is happening, we'll keep posting as much information as we receive and find in an effort to keep you as informed as we are, and maybe so we won't have to explain this too many times :)


Diagnosis: DORV with Severe VSD
During one of our anatomical ultrasounds (this one at Brooklyn Hospital on January 31st, 2012, where they check to make sure the baby is growing 10 fingers, 10 toes, and some other things we all tend to have), the doctor's noticed some abnormalities (they mentioned potential issues with the heart, but couldn't be sure) and asked us to go to a more comprehensive imaging center to for a more accurate diagnosis. We were referred from Brooklyn Hospital to Weil-Cornell Medical Center in Manhattan. There, on Tuesday the 14th, the ultrasound tech, another doctor, and the diagnosing doctor, Dr. Seena Abraham, confirmed our diagnosis. She might not have been the best at relaying the difficult news, but she did a great job of describing the condition, outlining the prognosis, and (literally) illustrating the inner workings of our baby's vasculature. Here are the 3 handouts she gave us (note that Dr. Abraham drew the hand-drawn diagram in what seemed like 60-seconds-flat):  















Future Directions: Surgery and Beyond
Later that week, Friday the 17th, we met with Dr. Jonathan Chen, who seconded the diagnosis, and mentioned he also conferred with 2 of his colleagues, Dr. Emile Bacha and Dr. Jan Modest Quaegebeur (or Q for short), to confirm this diagnosis. Although the severity of the diagnosis still is a little difficult to swallow, that we have 3 of the best doctors in the neonatal and pediatric cardiology world confirming the diagnosis and working together with our baby adds a lot of comfort. It also helps that they are hopeful the outcome will be positive. Here's a synopsis of what Dr. Chen told us:

Our baby will need to undergo 3 heart surgeries: 

The first will happen within the first few days of delivery. There are 2 options for the first one. Dr. Chen and his team will determine which is best, depending on imaging at birth. These options (as far as we understand it right now) are (1) a Blalock-Taussig Shunt and (2) a Norwood I procedure. These procedures are vastly different (the shunt can be laproscopic, Norwood is generally open heart; shunt has a high success rate, about 98%, Norwood has a lower but still high success rate, about 85%).

The other 2 (Glenn/Fontan; still invasive, slightly lower risk than the Norwood I), provided he can handle the first surgery and heals, will happen over the course of the next couple of years: Glenn usually at 6-9 months; Fontan usually by or before the age of 4.

While our doctors all have indicated there are very good chances he'll survive all surgeries and adapt well to his new vasculature, they all have reinforced the fact that these surgeries are considered palliative, not curative. That is, his heart will pump blood to the lungs, giving his body the oxygen it needs, but not as efficiently as ours because it will effectively have 3 chambers (1 ventricle, right), with a reconstructed series of bypasses from various arteries to various veins, all of which is more complicated than we can describe easily here. Ultimately, it sounds like he will eventually need a heart transplant at an older age.



Happy Thoughts 
One analogy that Peter thinks about that helps him make sense of this is high-altitude hiking and mountaineering. At sea level, a normal heart-lung system is in its optimal environment: we can get all the oxygen we need with normal effort and little-to-no exertion. The higher in altitude that we go, the more difficult it is to get the oxygen we need from our environment, requiring us all to adapt physiologically to the higher altitudes. As we reach and go above 10 thousand feet, we all need acclamation time, but most of us are capable of adapting to altitudes between 10 and 20 thousand feet, given the appropriate conditioning. Above 20 thousand feet, however, no one is able to adapt: we all are essentially starving ourselves of oxygen; there's not enough of it for our needs, and the longer we stay up there, and the higher we go, the lower our chances of survival.

Our baby will be born with a vasculature that is the equivalent of being above 20 thousand feet. The longer he lives and the more his body grows, the higher his base altitude equivalent. While no surgery will give him a sea-level vasculature, Surgery 1 will put him below 20 thousand feet, and Surgeries 2 and 3 will keep him there as his body grows and more demands are put on his heart.

With this in mind, of course we have our fears and worries, but we keep moving forward with smiles and laughter. We'll have 1 or 2 more comprehensive prenatal echocardiograms (ultrasounds), another consult or 2 with Dr. Chen, and we're being referred to another OB-GYN at Weil-Cornell to get us through the prenatal period on medical terms. On simpler terms, we're enjoying every kick, we're taking pictures of every added inch of girth on mommy's belly, and delighting in the process of rearranging and preparing for our newborn baby boy. It all seems to fit well: even with the worry and fear, there's an enormous amount of hope, smiles, laughter, and joy.

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