When you're pregnant you go to the those 20 week ultrasound appointments anxiously waiting to hear the gender of your baby, but unfortunately, with baby boy it was also the first time we heard there was an abnormality with his heart.
I remember walking out into Hopkins' parking lot that day and both Nate and I saying how that put quite the damper on our excitement of knowing we were welcoming a little boy to go with our two little girls. From there we of course made probably every parent's mistake- we read Dr. Google. Dr. Google I learned likes to stress to you the worst case scenarios. Though they told us what they saw on the ultrasound could be absolutely nothing we had to wait two weeks to follow up with Hopkins Pediatric Cardiology.
That's a long time let me tell you to read a lot of negative, not very hopeful stuff on the internet. After experiencing two healthy pretty much worry free pregnancies I was surprised to learn how common congenital heart defects were and the wide range of defects that existed and all the different implications of how those could impact his quality of life. It was a bit overwhelming. So though Google will give you loads of information when faced with a medical unknown I wouldn't recommend over reading the internet at that time.
What we found out two weeks later was that they did in fact see something on the ultrasound. He had not only one larger tumor growing on his heart but possibly several other smaller ones. At that point there was nothing they could do but monitor them and gamble on them not causing him any problems. Though the tumors were not cancerous they could cause life threatening problems. "The positioning within critical areas in the heart could lead to lethal arrhythmias and chamber obstruction.
Tumors obstructing the right-side inflow or the outflow of the ventricles can lead to decreased cardiac output, atrial and caval hypertension, fatal hydrops (development of fluid around the heart), and death. Congestive heart failure and a low cardiac output can occur when the tumor extensively involves the myocardium or the ventricular papillary muscles. Cyanosis and decreased peripheral pulses can result. Death occurs because of obstruction of ventricular blood flow, arrhythmias, valve stenosis, or loss of functional myocardium secondary to extensive tumor involvement." These tumors would continue to grow as he grew throughout the pregnancy, but if he made it past his uterine stay where their growth peaked after that they actually started to regress in size so if they did not cause him problems during pregnancy it was pretty safe to say they wouldn't afterwards.
But not only could we do nothing throughout the pregnancy but just pray the tumors caused him no problems, we were also informed more times than not these cardiac tumors were usually connected with a genetic disorder called tuberous sclerosis. Again google more aless informed me, "The classic clinical triad of tuberous sclerosis includes mental retardation, epilepsy, and facial angiofibromas. The presence of multiple cardiac rhabdomyomas (the tumor) often precedes the manifestation of the cutaneous and neurologic features of the disease." Tuberous sclerosis in simple terms is a disease that causes tumors to grow on major organs of the body. Though again the tumors were noncancerous with each organ they grew on they could cause a variety of problems.
Not only did we face a lot of unknowns the remaining four months of my pregnancy but there would be lots of medical testing and procedures after his birth. As you know he made his debut without any complications from the heart tumors. At sixteen months he still sees a cardiologist every few months but the tumors regressed and/or are continuing to regress for the larger one as expected.
Seizures were the next manifestation of the disorder they expected to see because the next organ the tumors usually made their appearance at was the brain but again no further signs of the disorder have been found at this time. We are incredibly blessed and fortunate! We met with his neurologist and a genetics counselor the other day, and they were quite happy with him.
While there they talked about getting genetics testing done. A genetics test could confirm he has the disorder or give us an 85% likely negative that he doesn't. There's also the possibility the results could be inconclusive in which case they would still label him with the disorder. We are inconclusive here on what we should do. Obviously if we could get the negative- yay case closed!
He is developmentally totally on track and has shown no further complications or evidence of the disorder so I would hate to place the label that will come with the diagnosis when if he has it it's obviously very mild and may not cause him problems for years- if ever- down the road. No matter how mild his symptoms may be and no matter how little medical attention he may need a positive or inconclusive genetics test result could make it hard for him to obtain certain insurances when he gets older. When he gets older he may want to know if the heart tumors were caused by a mild version of the genetic disorder because if so unfortunately a passing down of the disorder could be anywhere from mild to severe for his own children, but if we wait he could obtain life insurance before doing a genetics test and make that decision for himself. If he is positive then all of us would have to go through genetics testing as well to see if the girls had the possibility of passing it down to their children.
He s doing so well and we all feel so hopeful and optimistic for his future so if we knew we were getting a negative result it'd be a no brainer to just do it but a positive would be opening a whole can of worms I'm not sure about opening right now. If we choose not to do the genetics testing we just follow up with neurology once a year unless of course something concerning warrants her attention sooner.
I really feel like not knowing the results of a genetics test isn't much different right now than not knowing any of our children's medical futures and what they may face in their individual journeys ahead. But I do know after almost two years of all this crazy medical uncertainty that followed a year of two miscarriages I am so thankful that this is where we've ended up. He's here and at sixteen months he's doing fantastic and is such an incredible blessing to our family.
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