Tuesday, May 23, 2006

I don't know why, but I was more anxious about today's genetic counseling than I was about the appointment with Dr. Watts last week. I was nervous and frustrated before that one, today, I was just weepy and emotional. I don't understand it, but that's how it was.

When they (finally) called us back, they of course offered their sympathies. It's difficult to accept that they were heart felt when neither of them had ever laid eyes on us before today, and only knew of our cases through their medical charts, but we'll get back to that conversation later.

They asked a lot of silly questions that we'd already answered 100 times about family history and the incidence of past abnormalities (of which there is only one, the children's aunt, who has Downs, and has no bearing on our case.) He asked about gestational illnesses, and environmental factors and medications during the pregnancy. He asked if either Alexis or Nova had been autopsied, or if we'd had tissue samples frozen... Eventually, he got down to business, and surprised me by telling me that he had Alexis' genetic testing results too. We never knew she was tested for anything until after Nova was born, so we'd never gotten any results about her.

Apparently, both children tested negative for any known genetic anomalies, and no syndromes were detected in either child. Now for the complicated stuff.

In families that have one CHD baby, the chances of having another increase with each CHD baby born, however, this tends to be true with the less complex CHDs, such as ASD or VSD. These are the most common CHDs, and benign when compared to the defects my children had.

The incidence of families with multiple children with complex heart defects such as Tetralogy of Fallot and Pulmonary Atresia is considerably lower. According to Dr. Wagstaff, it's quite rare. His office has, in fact, never seen a family who experienced multiple complex congenital heart defects. His office handles all of the genetic testing for CMC, and considering the volume of CHD patients that came through CVRU while we were there, and knowing that they're nearly all tested for genetic causes, that is mind boggling. We're talking about at least five years worth of CHD families. I have no way of putting a number on it, not with any real accuracy, but I'd venture a guess that it's somewhere in the range of a thousand, and that's being conservative.

His opinion is that there is something potentially toxic in the combination of Scott's genes with mine. Separately, we have no greater chance of having a CHD child than the general population, but together, our risks are greatly increased, and on the same sliding scale. Right now, if Scott and I were to have another child together, we'd be facing a 20% to 40% chance of that child being another heart baby with complex defects. (Recall that in other CHD families, there is a 5% to 10% of a third CHD child.)

He also believes that the children we have in common, Kassi, Bren and Terra, have a slightly increased risk as well, something like a 1.5% chance, as opposed to the general population's 1% chance, while the children we each have from previous marriages have the same chance as the general population.

Of course, these are his medical opinions, but the truth is, our situation is so rare that there's no concrete data, no research results to refer to. For all intents and purposes, it is his untested hypothesis. Whatever this genetic problem is that's caused by the mixing of our genes (assuming that's the case - there's always the chance that it was a total fluke, lousy luck, plain and simple) can not be tested for, named, or in any way isolated or explained, therefore, the risks cannot be accurately forecasted.

As unusual as our situation seems to be, apparently he feels that we're not the only family it's ever happened to, and thinks that there is probably research being done on it somewhere as we speak - and he asked if we'd be interested in participating in it if his office could find any being done. You guys know me, and you already know the answer, right? Of course I said yes. It stands not only to benefit science and cardiological medicine in general, but there's a real chance that the findings could directly benefit my grandchildren. So we're hoping to hear from them, or from some independent research organization, the sooner the better.

Now back to those sympathies Dr. Wagstaff offered. It isn't that I doubt the fact that he "feels for" us, as people, he is human, and seemed very nice. But as he spoke about our case, recited numbers and ratios, and his eyes glazed over a little bit, I realized something. He was doing his best to treat us as bereaved parents and as patients, and doing a fair job of it, but in truth, we were an opportunity to learn.

His mind was reeling at the possibilities for new knowledge. I can appreciate that, to be honest. I'm naturally curious, and have a true appreciation for learning. In his case, I'd have probably felt the same. He absolutely vibrated with a thirst for knowledge.

I suppose other people might have been offended, or put off by it. Personally, it made me smile. That's the kind of folks that CHD families need, the thirsty ones, the ones who crave the answers to the hard questions, because we all deserve the answers.

***Good Lord, as son as I say it's a rare situation, I find this site about another family with a second baby with a complex heart defect. I don't know a lot about their history, or about HLHS, or whether it's of the variety that the geneticist was referring to. All I know is that this family deserves a happy ending, so keep them in your thoughts, please.

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posted by Erin @ 2:35 PM   4 comments

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Donovan "Nova" LeClair

Monroe, North Carolina
Nova was our second child to be born with congenital heart defects. We lost our daughter at 12 days after open heart surgery in 2001. Nova was born 12/2/05, with Pulmonary Atresia with VSD. He lived 6 weeks after surgery, and passed away on April 6th, 2006. This blog is his story, and the on-going story of how our family is dealing with the loss of our beautiful boy.
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