Wednesday, February 11, 2009

CHD Awareness Week - Post 3

Well oh crud - I didn't post yesterday, so I guess I'll have to do 2 posts today to make up for it. As you can imagine, this topic is near and dear to me, and I have learned a lot in the past few years. Once we got the news of our daughter's condition, I pretty much got a crash course in pediatric cardiology - as do other heart parents. In this post, I will talk a little about heart defects, what are they, how do they form, and other facts about them.

A congenital heart defect is basically any abnormality in the heart that is present when the child is born (that's what "congenital" means). It can be mild - perhaps a problem with a valve, or a small hole that maybe only warrants a "wait and see" approach; or it can be anywhere on the continuum to severe. The set of defects that Zoe has are known collectively as "single ventricle defects" - because there is only a single working ventricle in the heart. According to the American Heart Association, these types of defects are some of the most complex defects that there are. Interestingly enough, my daughter has Hypoplastic Right Heart which is rarer than it's counterpart Hypoplastic Left Heart, however, in this case the rarer defect of Hypoplastic Right Heart is LESS severe than Hypoplastic Left Heart, although they are generally treated with the same set of 3 surgeries. It goes against the norm of things that are more common are usually not as big a deal as things that are less common. Go figure.

As many of you know, the heart is one of the first things to develop in an embryo. The heart starts forming and beating before the woman even knows she is pregnant - within the first few weeks of development. No one knows what causes them. In some instances it can be caused by a specific illness the mom had if it was early enough, or perhaps some medication she was on. Some defects are associated with Downs Syndrome (AV Canal defects) but for the most part it's completely random and no one knows why they happen.

Because the heart starts forming so early, when something goes wrong in it's development, the heart will kind of form itself in a different way because of the initial thing that goes wrong, and that can lead to other defects, which is why a child RARELY only has 1 defect, there usually are multiple. Zoe has Pulmonary Valve Atresia, and Ebstein's Anomaly, AND an Atrial Septal Defect (or an ASD - a hole between her 2 atriums). I think in her case, the ASD formed so that blood could have somewhere to go because there was no way to get out of the right side of her heart since those 2 valves are not functioning. And obviously, with no blood flow, the right side of her heart did not grow. Normally a hole in the heart (a VSD - Ventricular Septal Defect or an ASD) is a bad thing, but with single ventricle defects, the doctors want there to be one so the blood has somewhere to go to get out of the heart in some way.

One question I got asked a lot when I was pregnant was if I would need a C-section or whether they would do surgery in utero. The answer to both of those is "no". Babies with heart defects don't generally have problems before they are born. The reason for this is: 1. They are getting oxygen from mom anyway, through the placenta. 2. They aren't using their lungs yet, 3. There are some natural holes in the heart that everyone has before they are born. These are the Ductus Arteriosis and the Foraman Ovale. Normally, these close within a few hours to a few days after birth. Babies with heart defects can tolerate labor and delivery just fine, and are generally pretty pink when they are born. They don't run into trouble until those holes start closing, shutting off their oxygen supply (if that is the type of defect they have). Interestingly, sometimes in a healthy baby, those holes DON'T close on their own, which is also a heart defect! (They are called Patent Ductus Arteriosis, and Patent Foramen Ovale) However a pretty simple surgery, or even medicine can fix that for them.

There are at least 35 heart defects that have been identified, and roughly 1 out of every 100 babies is born with one. In the world of birth defects THIS IS A LOT. Here are some ways to put it in perspective. I have about 163 friends on my Facebook page - statisically, 1 of them would have been born with one. There were about 100 people in the last office I worked in. Statistically, 1 of them would have been born with one. I had about 1500 kids at my high school. Again, statistically speaking, there would have been about 10 to 15 kids with a heart defect at my high school. Who were they? I don't know, maybe in actuality we didn't have any, but I would be willing to bet there were some. Maybe there really weren't any because nearly 30 years ago(my age), they were still learning about new surgical techniques for these, and mortality was a lot higher. We are doing better now, however, deaths from heart defects are still the leading cause of birth defect related deaths in infants during their first year.

There is still a great need for awareness and research. Before I had Zoe, I knew nearly nothing about heart defects. Most people don't, which is pretty shocking to me considering how common they are. As far as research dollars go, heart defects are really underfunded. For example, for every dollar provided by the National Instistutes of Health (NIH) only 1 penny goes for pediatric research in general, and only a fraction of that penny will go for research for heart defects. The American Heart Association took in over $600 million dollars last year (according to their annual report) but spent only $10.1 million on heart defect related research. There is a lot more to do, clearly.

I will touch on more information in my next post about what you can do, what is being done, and where you can go to find more info.

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