Saturday, August 7, 2010

When (and what) to disclose

It's always hard to be part of a genetics consult. It seems more encompassing than infectious disease or cards or the other organ specialties. It's a lot easier to say to a parent: "Mrs. Smith, I think that there's something wrong with the baby's liver (or even brain)" than just "I think that there's something wrong with the baby."

I wasn't thrilled to tell the mother at all that we were getting genetics to look at her new baby, which had been perfectly healthy as far as anyone knew up until 10 hours before (also known as the time of birth.) But at the same time, it's not the sort of thing you can completely withhold, either. Luckily, there was more to this particular patient than just having unusual facial features, so at least I could give the parents a reason I was calling the geneticist, instead of "your baby looks funny" (N.B. I would never actually say that, but it is hard to explain to a parent that their baby is dysmorphic in lay language. We usually use the word "differences," but I was having a particularly hard time in this case. We'd gone through me telling the family that the baby had some facial differences and the family insisting that the baby looked like their other kids. Which, fine, but when I see a picture of your other kids, I know that's not true and I don't want to disagree about it.)

Complicating the whole situation was the fact that the overnight team thought that the baby had Down Syndrome. I still am not exactly sure what the team said to the family, but when I came on it was immediately clear that the baby did not have Down syndrome. So I also wanted to let the family know that if they'd heard the words "Down Syndrome" to take those words out of their head. Unfortunately, to me and to the genetics team that came to officially consult, it was clear that the patient looked syndromic; however, there was no particular syndrome that sprang to mind.

I would say about 50% of genetics consults (fewer for experts, more for novices) fall into this category. Something is wrong and that something is...?? That's a really hard conversation to have with any family. Often, if the patient is on the floor or in the unit and going to stay for a while, we won't mention that genetics is coming until the testing is done and we have an answer (I usually will mention something vague like "we're doing some testing to see if we can come up with one answer that ties together everything that is going on with your child.") However, when the child is a well baby, they go home after 2-3 days, so we have to discuss it before results are back. It's a terribly hard conversation: "we've sent genetic testing; there may be a genetic disease that your child has, but I won't be able to give you any more information for at least 2-3 weeks. What questions do you have?" And then, of course, in this situation "well, I disagree with the overnight team; it's not Down Syndrome, but I don't know whether it's better or worse." (I didn't say that, either.)

I did my best. I told the family that until we know more, there's no point in starting to worry. I told them to enjoy the child, learn more about them as an individual and love the child for the next couple of weeks. I told them until we have answers, we'll deal with each problem as it comes up and troubleshoot each one. But it's hard. Genetics is a field people go into because they want to be able to give families answers. We hate vagaries and unconnected symptoms. I wish that there were a way to both be honest and open, but not throw parents into this diagnostic grey zone for weeks.